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Gene: Mks1 MGI:3584243

Gene Summary

Name:

MKS transition zone complex subunit 1

Synonyms:

B8d3, Meckel syndrome, type 1, avc6

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal nail morphology		Mks1^{tm1a(EUCOMM)Wtsi}	HET		Early adult	3.63×10^-05
increased circulating creatine kinase level		Mks1^{tm1a(EUCOMM)Wtsi}	HET		Early adult	4.37×10^-07

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	50% (1 of 2)
Lung	N/A	heterozygote	Ambiguous
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	50% (1 of 2)
Uterus	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
blood vessel	0.0%
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
oesophagus	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyer's patch	0.57% (1 of 176)
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle tissue	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Histopathology

Images

2 Images

View images

Legacy Phenotype Associated Images

Mks1^{tm1a(EUCOMM)Wtsi}
HET, Female, WTSI

Mks1^{tm1a(EUCOMM)Wtsi}
body, HET, Female, WTSI

Mks1^{tm1a(EUCOMM)Wtsi}
head, HET, Male, WTSI

Mks1^{tm1a(EUCOMM)Wtsi}
forearm, HET, Male, WTSI

View all 154 images

Mks1^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Human diseases caused by Mks1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Mks1 (7 diseases)
Human diseases predicted to be associated with Mks1 (2676 diseases)

The table below shows human diseases associated to Mks1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Meckel Syndrome	Asplenia, Optic atrophy, Aplasia/Hypoplasia of the iris, Micrognathia, Lobar holoprosencephaly, P...	ORPHA:564
Meckel Syndrome, Type 1	Camptodactyly of finger, Asplenia, Hypoplasia of the bladder, Abnormal cardiac septum morphology,...	OMIM:249000
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Joubert Syndrome With Ocular Defect	Encephalocele, Molar tooth sign on MRI, Foot polydactyly, Hydrocephalus, Hand polydactyly, Cerebe...	ORPHA:220493
Joubert Syndrome	Encephalocele, Abnormality of neuronal migration, Episodic tachypnea, Foot polydactyly, Hydroceph...	ORPHA:475
Bardet-Biedl Syndrome	Hepatic fibrosis, Multicystic kidney dysplasia, Finger syndactyly, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Joubert Syndrome 28	Hypertelorism, Molar tooth sign on MRI	OMIM:617121

The table below shows human diseases predicted to be associated to Mks1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 2	Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S...	ORPHA:93403
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Syndactyly, Type Iv	Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ...	OMIM:186200
Polydactyly, Preaxial Ii	Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t...	OMIM:174500
Synpolydactyly 1	Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl...	OMIM:186000
Short Rib-Polydactyly Syndrome	Horizontal ribs, Polydactyly, Short tibia, Polyhydramnios, Absent or minimally ossified vertebral...	ORPHA:1505
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Meckel Syndrome, Type 8	Polydactyly, Cleft upper lip, Encephalocele, Anophthalmia, Pericardial effusion, Enlarged kidney,...	OMIM:613885
Polydactyly, Postaxial, Type A1	Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly	OMIM:174200
Polydactyly, Preaxial Iv	1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ...	OMIM:174700
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Meckel Syndrome	Asplenia, Optic atrophy, Aplasia/Hypoplasia of the iris, Micrognathia, Lobar holoprosencephaly, P...	ORPHA:564
Ventricular Septal Defect 1	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall...	OMIM:614429
Mosaic Trisomy 9	Camptodactyly of finger, Asplenia, Polyhydramnios, Renal dysplasia, Micrognathia, Hip dislocation...	ORPHA:99776
Femoral-Facial Syndrome	Ventriculomegaly, Micrognathia, Long penis, Short femur, Abnormal rib morphology, Cleft palate, T...	ORPHA:1988
Meckel Syndrome, Type 1	Camptodactyly of finger, Asplenia, Hypoplasia of the bladder, Abnormal cardiac septum morphology,...	OMIM:249000
Polydactyly, Postaxial, Type A10	Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly	OMIM:618498
Brachydactyly, Type C	Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr...	OMIM:113100
Carpenter Syndrome 1	Conductive hearing impairment, Coxa valga, Optic atrophy, Toe syndactyly, Micrognathia, Flared il...	OMIM:201000
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab...	ORPHA:3269
Polydactyly, Preaxial I	Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu...	OMIM:174400
Stromme Syndrome	Deeply set eye, Jejunal atresia, Wide mouth, Wide nasal bridge, Micrognathia, Hydrocephalus, Opti...	OMIM:243605
Orofaciodigital Syndrome I	Polydactyly, Bifid tongue, Wide nasal bridge, Median cleft lip, Radial deviation of finger, Alveo...	OMIM:311200
Mosaic Trisomy 1	Camptodactyly of finger, Renal cortical cysts, Lateral ventricle dilatation, 2-3 finger syndactyl...	ORPHA:1692
Lipedema	Edema	OMIM:614103
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short lingual frenulum, Microdontia, Thoracic dysplasia, Pulmonary hypoplasia, Cleft...	OMIM:614091
Distal Trisomy 17Q	Vesicoureteral reflux, Genu valgum, Renal duplication, High palate, Hallux valgus, Wide mouth, Bi...	ORPHA:3379
Pallister-Hall-Like Syndrome	Renal dysplasia, Anterior hypopituitarism, Micrognathia, Short ribs, Hydrocephalus, Toe syndactyl...	OMIM:241800
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Dilated third ventricle, Renal cortical cysts, Ventriculomegaly, Recurrent aspiratio...	ORPHA:397715
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Spina bifida, Abnormal l...	ORPHA:945
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Polyhydramnios, Hepatomegal...	OMIM:306955
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Horizontal ribs, Short tibia, Ambiguous genitalia, Bifid tongue, Hypoplastic facial bones, Pulmon...	OMIM:616300
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Periportal fibrosis, Wide anterior fontanel, Short long bone, Bicornuate uterus, Mi...	OMIM:263210
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Malforma...	OMIM:615415
Odontochondrodysplasia 1	Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Pulmonary hypoplasia, Neph...	OMIM:184260
Hallux Varus And Preaxial Polysyndactyly	Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus	OMIM:234280
Polydactyly, Postaxial, Type A9	Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:618219
Genitopalatocardiac Syndrome	Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Micrognathia, Renal cy...	OMIM:231060
Trisomy 13	Abnormal antihelix morphology, Optic atrophy, Aplasia/Hypoplasia of the iris, Median cleft lip, A...	ORPHA:3378
C Syndrome	Renal cortical cysts, Toe syndactyly, Micrognathia, Hip dislocation, Dislocated radial head, Radi...	OMIM:211750
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Diabetic Embryopathy	Hydronephrosis, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Abnormality of the pancr...	ORPHA:1926
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Short phalanx of finger, Small hand, Perianal abscess, Long philtrum, Pericardial effusion, Wide ...	OMIM:614684
Rubinstein-Taybi Syndrome 1	Polydactyly, Polyhydramnios, Flexion contracture, Wide nasal bridge, Micrognathia, Flared iliac w...	OMIM:180849
Cutis Laxa, Autosomal Recessive, Type Ic	Hypoplasia of the thymus, Wide nasal bridge, Micrognathia, Peripheral pulmonary artery stenosis, ...	OMIM:613177
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Patent ductus arteriosus, Abnormality of the philtrum, High palate, Mids...	ORPHA:2863
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Knee flexion contracture, Unilateral wrist flexion contracture, Cerebellar dysplasia, Perisylvian...	OMIM:616531
Meckel Syndrome, Type 6	Absent gallbladder, Abnormal internal genitalia, Hepatic fibrosis, Cleft upper lip, Aplasia of th...	OMIM:612284
Polysyndactyly With Cardiac Malformation	Polyhydramnios, Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Dupli...	OMIM:263630
Santos Syndrome	Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre...	OMIM:613005
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Abnormal cardiac septum morphology, Abnormal thorax morphology, Renal agenesis, Uppe...	ORPHA:294975
Meckel Syndrome, Type 3	Polydactyly, Hepatic fibrosis, Multicystic kidney dysplasia, Hydrocephalus, Malformation of the h...	OMIM:607361
Pseudotrisomy 13 Syndrome	2-3 toe syndactyly, Holoprosencephaly, Cyclopia, Postaxial hand polydactyly, Posteriorly rotated ...	OMIM:264480
Feingold Syndrome 1	2-3 toe syndactyly, Asplenia, Polyhydramnios, Wide nasal bridge, Micrognathia, Everted lower lip ...	OMIM:164280
Alg9-Cdg	Hypoplasia of the bladder, Pericardial effusion, Micrognathia, Abnormal left ventricular outflow ...	ORPHA:79328
Short-Rib Thoracic Dysplasia 18 With Polydactyly	2-3 toe syndactyly, Thoracic hypoplasia, Ventriculomegaly, Short ribs, Micrognathia, Polycystic k...	OMIM:617866
Frontonasal Dysplasia 1	Anterior basal encephalocele, Conductive hearing impairment, Cranium bifidum occultum, Joint cont...	OMIM:136760
Marden-Walker Syndrome	Micrognathia, Camptodactyly, Pulmonary hypoplasia, Cleft palate, Talipes equinovarus, Hypoplasia ...	OMIM:248700
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg...	OMIM:208540
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Patent ductus arteriosus, Retrognathia, Macrotia, Crossed fused renal ectopia, Low-set ears, Vent...	OMIM:618142
Short-Rib Thoracic Dysplasia 12	Respiratory insufficiency, Pulmonary hypoplasia, Median cleft lip, Holoprosencephaly, Limb underg...	OMIM:269860
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Deep philtrum, T...	ORPHA:261120
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Epiphyseal st...	OMIM:214100
Wolf-Hirschhorn Syndrome	Conductive hearing impairment, Wide nasal bridge, Micrognathia, Hip dislocation, Biliary tract ab...	OMIM:194190
Trisomy 1Q	Camptodactyly of finger, Ventriculomegaly, Toe syndactyly, Cleft palate, Multicystic kidney dyspl...	ORPHA:261344
Tarp Syndrome	Short sternum, High palate, Tongue nodules, Hypoplasia of the radius, Micrognathia, Clinodactyly,...	OMIM:311900
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Microgn...	ORPHA:90652
Triploidy	Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia affecting the eye, Abnormality of the panc...	ORPHA:3376
Sweeney-Cox Syndrome	Asplenia, Polyhydramnios, Wide nasal bridge, Micrognathia, 2-4 finger syndactyly, Bilateral talip...	OMIM:617746
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Tapered finger, Microdontia, Micrognathia, Elevated hepatic transaminase, Smooth philtrum, Thromb...	OMIM:620005
Distal Tetrasomy 15Q	Nephroblastoma, Retrognathia, Patent ductus arteriosus, Abnormal sternum morphology, High palate,...	ORPHA:314588
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ...	OMIM:611134
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Conductive hearing impairment, Spina bifida occulta, Everted lower lip vermilion, Posteriorly rot...	OMIM:617877
Basal Cell Nevus Syndrome 1	Palmar pits, Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Short distal phalanx of the ...	OMIM:109400
Pallister-Hall Syndrome	Precocious puberty, Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Hip dislocation, Dista...	OMIM:146510
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Non-midline cleft lip, Spinal dysraphism, Micrognathia, Holoprosencephaly, Cleft pal...	ORPHA:1908
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Horizontal ribs, Ambiguous genitalia, Bifid tongue, Thoracic hypoplasia, Renal dysplasia, Lateral...	OMIM:613091
Conotruncal Heart Malformations	Transposition of the great arteries, Double outlet right ventricle, Complete atrioventricular can...	OMIM:217095
Angioedema, Hereditary, 6	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619363
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Horizontal ribs, Ambiguous genitalia, Lateral ventricle dilatation, Thoracic dysplasia, Pulmonary...	OMIM:263520
Autosomal Recessive Spondylocostal Dysostosis	Meningocele, Camptodactyly of finger, Short thorax, Long philtrum, Finger syndactyly, Rib segment...	ORPHA:2311
Orofaciodigital Syndrome Xviii	Urinary incontinence, Genu valgum, Short philtrum, Diastema, Cervical ribs, Brachydactyly, Single...	OMIM:617927
Fryns Syndrome	Polyhydramnios, Wide nasal bridge, Camptodactyly, Cleft palate, Rocker bottom foot, Ventricular s...	OMIM:229850
Cranioectodermal Dysplasia 1	Wide nasal bridge, Stage 1 chronic kidney disease, Microdontia, Malformation of the hepatic ducta...	OMIM:218330
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conductive hearing impairment, Wide nasal bridge, Delayed eruption of teeth, Pericardial effusion...	OMIM:235510
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Horizontal ribs, Short phalanx of finger, Thoracic dysplasia, Pulmonary hypoplasia, Early ossific...	OMIM:208500
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, 2-3 toe syndactyly, Hypoplasia of the brainstem, Renal dysplasia, Cerebellar h...	OMIM:236500
Congenital Disorder Of Glycosylation, Type Il	Long philtrum, Abnormal cardiac septum morphology, Wide mouth, Pericardial effusion, Polycystic k...	OMIM:608776
Cornelia De Lange Syndrome 1	2-3 toe syndactyly, Delayed eruption of teeth, Micrognathia, Elbow flexion contracture, Hypoplast...	OMIM:122470
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st...	OMIM:615779
Primary Ciliary Dyskinesia	Double outlet right ventricle, Asplenia, Conductive hearing impairment, Polysplenia, Hydrocephalu...	ORPHA:244
Mosaic Variegated Aneuploidy Syndrome 1	Nephroblastoma, Short sternum, Ambiguous genitalia, Multicystic kidney dysplasia, Long philtrum, ...	OMIM:257300
Pentalogy Of Cantrell	Abnormal pericardium morphology, Absent gallbladder, Non-midline cleft lip, Encephalocele, Ventri...	ORPHA:1335
Phenobarbital Embryopathy	Mandibular prognathia, Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Hypospadi...	ORPHA:1919
Intellectual Disability, Wolff Type	Camptodactyly of finger, Hypoplastic superior helix, Non-midline cleft lip, Macrotia, Wide nasal ...	ORPHA:3080
Roberts-Sc Phocomelia Syndrome	Wrist flexion contracture, Absent thumb, Polyhydramnios, Wide nasal bridge, Tetraphocomelia, Elbo...	OMIM:268300
Chromosome 1Q41-Q42 Deletion Syndrome	Ventriculomegaly, Pulmonary hypoplasia, Holoprosencephaly, Cleft palate, Talipes equinovarus, Ven...	OMIM:612530
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Asplenia, Ventricular septal defect, Micrognathia, Camptodactyly, ...	OMIM:619123
Syndactyly Type 4	Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand...	ORPHA:93405
Gracile Bone Dysplasia	Asplenia, Slender long bone, Ankyloglossia, Hydrocephalus, Flared metaphysis, Microphthalmia, Dec...	OMIM:602361
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Respiratory insufficiency, Encephalocele, Ventriculomegaly, Abnormality...	ORPHA:93274
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Deeply...	ORPHA:2570
Endocrine-Cerebroosteodysplasia	Thick upper lip vermilion, Ventriculomegaly, Micrognathia, Median cleft lip, Holoprosencephaly, F...	OMIM:612651
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Horizontal ribs, Short tibia, Micrognathia, Pulmonary hypoplasia, Lateral clavicle hook, Cleft pa...	OMIM:617925
Meckel Syndrome, Type 2	Meningocele, Polydactyly, Encephalocele, Anencephaly, Renal cyst, Intestinal malrotation, Bile du...	OMIM:603194
Tarp Syndrome	Micrognathia, Pulmonary hypoplasia, Pectus excavatum, Alveolar ridge overgrowth, Hypoplasia of pr...	ORPHA:2886
Hypoglossia With Situs Inversus	Asplenia, High palate, Hypodontia, Polysplenia, Micrognathia, Situs inversus totalis, Narrow mout...	OMIM:612776
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Ventricular septal defect, Micrognathia, Agenesis of corpus callosum, Short philtrum,...	ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Lateral ventricle dilatation, Micrognathia, Camptodactyly, Posterior r...	OMIM:611209
Carpenter Syndrome	Patent ductus arteriosus, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial f...	ORPHA:65759
Meckel Syndrome, Type 5	Cleft upper lip, Anencephaly, Postaxial foot polydactyly, Renal cyst, Bile duct proliferation, Po...	OMIM:611561
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia, Unbalanced atrioventricular canal defect, Toe syndactyly, Thoracic aortic aneurysm, Pos...	OMIM:619657
Holoprosencephaly 5	Macrotia, High palate, Syntelencephaly, Lateral ventricle dilatation, Deep philtrum, Hypotelorism...	OMIM:609637
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Atrioventricular canal defect, Polyhydramnios, Isomerism, Esophageal atresia, T...	OMIM:314390
Cardiac-Urogenital Syndrome	2-3 toe syndactyly, Cor triatrium sinister, Wide nasal bridge, Pericardial effusion, Patent urach...	OMIM:618280
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Dysphagia, Cleft palate, Hearing impairment, Posteriorly rotated ears, Patent fo...	OMIM:618494
Meckel Syndrome 14	Retrognathia, Cyanosis, Hepatic fibrosis, Pneumothorax, Micrognathia, Polycystic kidney dysplasia...	OMIM:619879
Renpenning Syndrome	Mandibular prognathia, Decreased testicular size, Macrodontia, Short philtrum, Anal atresia, Pect...	ORPHA:3242
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Genu valgum, Ventricular septal defect, Ventriculomegaly, Shor...	OMIM:615630
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Atrioventricular canal defect, Asplenia, Polyhydramnios, Micrognathia, Posterior rib fusion, Noni...	OMIM:265380
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Retrognathia, Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal lung lobation, Ab...	ORPHA:2631
8P23.1 Microdeletion Syndrome	Atrioventricular canal defect, Tapered finger, Abnormal cardiac septum morphology, Wide nasal bri...	ORPHA:251071
Pseudoaminopterin Syndrome	Hip subluxation, Asplenia, Short 4th metacarpal, Microdontia, Micrognathia, Clinodactyly of the 5...	ORPHA:221120
Czeizel-Losonci Syndrome	2-3 finger syndactyly, Micrognathia, Pulmonary hypoplasia, Spina bifida occulta, 1-2 finger synda...	ORPHA:2437
Microphthalmia With Limb Anomalies	Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h...	OMIM:206920
Syndactyly-Polydactyly-Earlobe Syndrome	Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2...	OMIM:186350
Cranioectodermal Dysplasia 2	Horizontal ribs, Polydactyly, Biliary cirrhosis, Polyhydramnios, Wide nasal bridge, Microdontia, ...	OMIM:613610
Microgastria-Limb Reduction Defect Syndrome	Truncus arteriosus, Renal dysplasia, Elbow dislocation, Phocomelia, Hepatomegaly, Ectrodactyly, A...	ORPHA:2538
Pierpont Syndrome	Everted lower lip vermilion, Large fleshy ears, Smooth philtrum, Deep palmar crease, Short palm, ...	OMIM:602342
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Micrognathia, Supernumerary nipple, Recurrent sinusitis, Pectus excavatum, Overlapping toe, Posta...	OMIM:213980
Hydrolethalus Syndrome 1	Polyhydramnios, Micrognathia, Median cleft lip, Duplication of phalanx of hallux, Postaxial hand ...	OMIM:236680
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary hypoplasia, Overlapping toe, Smooth philtrum, Cutaneous syndactyly, Posteriorly rotated...	OMIM:618316
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Micrognathia, Pectus excavat...	ORPHA:1507
Holzgreve Syndrome	Cleft upper lip, Renal agenesis, Hand polydactyly, Hypoplastic left heart, Renal hypoplasia, Clef...	OMIM:236110
Polydactyly, Postaxial, Type A5	Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly	OMIM:263450
Trisomy 17P	Tapered finger, Micrognathia, Smooth philtrum, Cleft palate, Orofacial cleft, Polycystic kidney d...	ORPHA:261290
Robinow Syndrome, Autosomal Recessive 1	Bifid tongue, Micrognathia, Hypoplastic labia majora, Pectus excavatum, Dislocated radial head, R...	OMIM:268310
Duane-Radial Ray Syndrome	Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Facial pal...	OMIM:607323
Diaphanospondylodysostosis	Micrognathia, Narrow pelvis bone, Absent in utero rib ossification, Cleft palate, Talipes equinov...	OMIM:608022
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Thoracic hypoplasia, Ventriculomegaly, Micrognathia, Pulmonary hypoplasia, Short femur, Pleural e...	OMIM:616897
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Wide anterior fontanel, Enlarged kidney, Micrognathia, Pectus excavatum, Pulmonar...	OMIM:618272
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd...	OMIM:618167
Scarf Syndrome	Short sternum, Enamel hypoplasia, Long philtrum, Perineal hypospadias, Bifid scrotum, Hepatocellu...	ORPHA:3134
Myoectodermal Gonadal Dysgenesis Syndrome	Bifid distal phalanx of the thumb, Sensorineural hearing impairment, Long philtrum, Cutaneous fin...	OMIM:618419
Chromosome 16P13.3 Deletion Syndrome, Proximal	High palate, Abnormality of the kidney, Polysplenia, Micrognathia, Clinodactyly of the 5th finger...	OMIM:610543
Multiple Synostoses Syndrome 1	Thick upper lip vermilion, 2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short ha...	OMIM:186500
Cerebrooculofacioskeletal Syndrome 3	Cutaneous photosensitivity, Ventriculomegaly, Low-set ears, Cerebellar hypoplasia, Micrognathia, ...	OMIM:616570
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Wide nasal bridge, Hepatic steatosis, Hepatomegaly, Bilateral sensorineural hearing impairment, S...	OMIM:619418
Fetal Trimethadione Syndrome	High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Short nose, Hypospadi...	ORPHA:1913
Cantu Syndrome	Broad first metatarsal, Patent ductus arteriosus, Thick upper lip vermilion, Cardiomegaly, Coxa v...	OMIM:239850
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Ventricular septal defect, Secundum atrial septal defect, Complete...	OMIM:613854
22Q11.2 Duplication Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Micrognathi...	ORPHA:1727
Meacham Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cardiac total anomalous pulmonary venous con...	OMIM:608978
Acrorenal-Mandibular Syndrome	Toe syndactyly, Micrognathia, Elbow flexion contracture, Hip dislocation, Pulmonary hypoplasia, A...	OMIM:200980
8P23.1 Duplication Syndrome	Deeply set eye, Ventricular septal defect, Long philtrum, Toe syndactyly, Thick vermilion border,...	ORPHA:251076
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect, Long philtrum, Wide nasal bridge, Optic disc hypo...	OMIM:619306
Multiple Acyl-Coa Dehydrogenase Deficiency	Proximal tubulopathy, Renal cortical cysts, Wide anterior fontanel, Glycosuria, Jaundice, Polycys...	OMIM:231680
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Polyhydramnios, Wide nasal bridge, Toe syndactyly, Hepatoblastoma, Hepat...	ORPHA:373
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, De...	OMIM:613751
Ectrodactyly-Polydactyly Syndrome	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab...	ORPHA:1892
Fryns Syndrome	Non-midline cleft lip, Ventriculomegaly, Abnormal cardiac septum morphology, Micrognathia, Pulmon...	ORPHA:2059
Chromosome 15Q25 Deletion Syndrome	Dilatation of renal calices, Cleft upper lip, Ventricular septal defect, Abnormal cardiac septum ...	OMIM:614294
8p23.1 deletion syndrome	Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect	DECIPHER:39
Pierpont Syndrome	Everted lower lip vermilion, Smooth philtrum, Uplifted earlobe, Deep palmar crease, Hearing impai...	ORPHA:487825
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Supernumerary nipple,...	OMIM:312870
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tapered finger, Delayed eruption of teeth, Micrognathia, Camptodactyly, Pulm...	OMIM:619148
Cystic Echinococcosis	Peritoneal abscess, Abnormality of the pancreas, Jaundice, Splenic cyst, Elevated hepatic transam...	ORPHA:400
Focal Dermal Hypoplasia	Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Upper limb asymmetry...	ORPHA:2092
Alveolar Echinococcosis	Abnormal pericardium morphology, Pancreatic cysts, Biliary cirrhosis, Hepatic cysts, Pedal edema,...	ORPHA:284
Jeune Syndrome	Abnormal sternum morphology, Short thorax, Abnormality of the liver, Cone-shaped epiphysis, Aplas...	ORPHA:474
Caudal Regression Syndrome	Vesicoureteral reflux, Ambiguous genitalia, Arrhinencephaly, Renal agenesis, Missing ribs, Pulmon...	ORPHA:3027
Donnai-Barrow Syndrome	Short sternum, Non-acidotic proximal tubulopathy, Ventricular septal defect, Wide anterior fontan...	OMIM:222448
Gombo Syndrome	Clinodactyly, Radial deviation of finger, Abnormal heart morphology, Microphthalmia, Brachydactyly	OMIM:233270
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Respiratory insufficiency, Tapered finger, Ventriculomegaly, Tapered toe, Renal dysplasia, Abnorm...	OMIM:608836
Joubert Syndrome 18	Intrahepatic biliary atresia, Lobulated tongue, Retrognathia, Ventricular septal defect, Arrhinen...	OMIM:614815
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hypoplastic pubic bone, Hypoplastic ilia, Short ribs, Short long bone, Micrognathi...	ORPHA:1865
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, Absence of labia majora, Micrognathia, Pulmonary hypoplasia, Pectus exca...	ORPHA:2990
Orofaciodigital Syndrome Xvii	Retrognathia, Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fing...	OMIM:617926
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Polysplenia...	OMIM:613807
Hydrolethalus	Retrognathia, Polyhydramnios, Deeply set eye, Anophthalmia, Gingival cleft, Micrognathia, Arrhine...	ORPHA:2189
Acropectoral Syndrome	Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx	OMIM:605967
Thanatophoric Dysplasia	Patent ductus arteriosus, Respiratory insufficiency, Gray matter heterotopia, Ventriculomegaly, L...	ORPHA:2655
Senior-Loken Syndrome 8	Pancreatic cysts, Polydactyly, Hepatic cysts, Vascular dilatation, Stage 5 chronic kidney disease...	OMIM:616307
Ulbright-Hodes Syndrome	Pneumothorax, Humeroradial synostosis, Micrognathia, Pulmonary hypoplasia, Phocomelia, Abnormal f...	ORPHA:3404
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport...	OMIM:263200
Nephronophthisis 16	Patent ductus arteriosus, Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, P...	OMIM:615382
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal cardiac septum morphology, Micrognathia, Holoprosencephaly, Cyclopia, Postaxial hand pol...	ORPHA:2166
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal long bone morphology, Hypoplastic ilia, Abnormality of the...	ORPHA:140976
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Renal dysplasia, Pulmonary hypoplasia,...	ORPHA:3032
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ...	OMIM:613095
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, Epiphyseal stippling, Camptodactyly, Intrahepatic biliary dysgenesis, Hepatosplenom...	OMIM:614866
Joubert Syndrome 14	Meningocele, Encephalocele, Ventricular septal defect, Optic atrophy, Deeply set eye, Hydrocephal...	OMIM:614424
Mmep Syndrome	Triphalangeal thumb, Mandibular prognathia, Ventricular septal defect, Median cleft lip, Split fo...	ORPHA:3434
Marshall-Smith Syndrome	Irregular dentition, Ventriculomegaly, Recurrent aspiration pneumonia, Hallux valgus, Microdontia...	OMIM:602535
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Hypoplasia of the thymus, Joint contracture of the hand, Micrognathia, Jaundice, P...	OMIM:214110
Schinzel-Giedion Midface Retraction Syndrome	Ventriculomegaly, Hypoplastic labia majora, Hepatoblastoma, Thickened cortex of long bones, Posta...	OMIM:269150
Fibular Hemimelia	Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Renal dyspl...	ORPHA:93323
Biemond Syndrome Type 2	Hypogonadism, Hydrocephalus, Hypospadias, Preaxial polydactyly, Hypogonadotropic hypogonadism	ORPHA:141333
16P13.11 Microduplication Syndrome	Ventricular septal defect, Craniosynostosis, Hand polydactyly, Atrial septal defect, Coarctation ...	ORPHA:261243
Microphthalmia With Limb Anomalies	Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos...	ORPHA:1106
Polydactyly, Postaxial, Type A8	Genu valgum, Postaxial polydactyly	OMIM:618123
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Hepatocellular ...	OMIM:619902
Thomas Syndrome	Cleft upper lip, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Oligohydramnios, Hypopla...	ORPHA:3316
Distal Monosomy 7Q36	Non-midline cleft lip, Symphalangism affecting the phalanges of the hand, Macrotia, Hernia, Wide ...	ORPHA:1636
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Renal cyst, Hepatomegaly, Pachygyria, Decreased liver function, Low-set ear...	OMIM:614870
Ciliary Dyskinesia, Primary, 40	Patent ductus arteriosus, Atrioventricular canal defect, Congenitally corrected transposition of ...	OMIM:618300
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Aortic root aneurysm, Recurrent urinary tract infections, Stage 5 chronic kidne...	ORPHA:730
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Polyhydramnios, Gastroesophageal reflux, Tapered finger, High palate, Wide ...	OMIM:620070
Holoprosencephaly	Abnormal antihelix morphology, Respiratory insufficiency, Spinal dysraphism, Abnormality of neuro...	ORPHA:2162
Orofaciodigital Syndrome Vi	Conductive hearing impairment, Renal dysplasia, Toe syndactyly, Micrognathia, Periventricular nod...	OMIM:277170
8P Inverted Duplication/Deletion Syndrome	Wide nasal bridge, Micrognathia, Hip dislocation, Everted lower lip vermilion, Abnormality of the...	ORPHA:96092
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Hypoplastic colon, Short ...	OMIM:200995
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Micrognathia, Camptodactyly, Overlapping toe, Pleural effusion, Arthrogrypo...	OMIM:617822
Dysosteosclerosis	Short diaphyses, Delayed eruption of teeth, Micrognathia, Sclerotic scapulae, Hypoplastic vertebr...	OMIM:224300
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Disorganization, Mouse, Homolog Of	Limb duplication, Cleft upper lip, Sensorineural hearing impairment, Hand polydactyly, Hip disloc...	OMIM:223200
Synpolydactyly 2	Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar...	OMIM:608180
10Q22.3Q23.3 Microduplication Syndrome	Abnormality of the philtrum, Deeply set eye, Hypotelorism, Microretrognathia, Hypospadias, Abnorm...	ORPHA:276422
Axial Mesodermal Dysplasia Spectrum	Abnormality of the liver, Microtia, Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia, Mi...	ORPHA:1834
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Deeply set eye, Finger syndactyly, Hypotelorism, Hydrocephalus, Clinoda...	ORPHA:251046
Frank-Ter Haar Syndrome	Camptodactyly of finger, Mandibular prognathia, Deeply set eye, Wide mouth, Delayed eruption of t...	ORPHA:137834
Satb2-Associated Syndrome Due To A Pathogenic Variant	Gastroesophageal reflux, High palate, Long philtrum, Deeply set eye, Abnormality of globe locatio...	ORPHA:576283
Becker Nevus Syndrome	Abnormality of the scrotum, Supernumerary ribs, Hypoplastic labia minora, Supernumerary nipple, P...	ORPHA:64755
Robinow Syndrome	Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Hypoplastic labia majora...	ORPHA:97360
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Conductive hearing impairment, Wide nasal bridge, Camptodactyly, Palmoplantar hyperkeratosis, Acu...	OMIM:280000
Craniofaciofrontodigital Syndrome	Polyhydramnios, Palmoplantar cutis laxa, Finger joint hypermobility, Abnormal cerebral vascular m...	ORPHA:363705
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Stage 5 chronic kidney disease, Brachydactyly, Hepatic cysts	OMIM:613819
Tonne-Kalscheuer Syndrome	Widely spaced teeth, Decreased testicular size, Micrognathia, Velopharyngeal insufficiency, Pulmo...	OMIM:300978
Hyperparathyroidism, Transient Neonatal	Patent ductus arteriosus, Ventriculomegaly, Short ribs, Short long bone, Enlarged kidney, Splenic...	OMIM:618188
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha...	ORPHA:488232
Meckel Syndrome, Type 11	Polydactyly, Occipital encephalocele, Polycystic kidney dysplasia	OMIM:615397
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Flexion contracture, Optic atrophy, Wide nasal bridge, Flared iliac wing, ...	OMIM:617303
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Short 5th finger, Abnormality of the anus, Lateral ventricle dilatation,...	OMIM:607872
Ciliary Dyskinesia, Primary, 25	Gastroesophageal reflux, Immotile cilia, Polysplenia, Recurrent sinusitis, Recurrent otitis media...	OMIM:615482
Genitopalatocardiac Syndrome	Non-midline cleft lip, Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Wide nas...	ORPHA:2075
Distal Monosomy 13Q	Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the thumb, Encephalocele, Abnormal ca...	ORPHA:1590
Mpdu1-Cdg	Renal cortical cysts, Wide anterior fontanel, Decreased response to growth hormone stimulation te...	ORPHA:79323
Jawad Syndrome	Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t...	OMIM:251255
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm,...	OMIM:173900
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Abnormal morp...	ORPHA:2141
Aicardi Syndrome	Bifid ribs, Cleft upper lip, Dilated third ventricle, Precocious puberty, Lateral ventricle dilat...	OMIM:304050
Dextrocardia	Pancreatic hypoplasia, Abnormality of abdominal situs, Hydrocephalus, Abnormality of the pulmonar...	ORPHA:1666
Acrocallosal Syndrome	Tapered finger, Everted upper lip vermilion, Optic atrophy, Abnormal cardiac septum morphology, T...	OMIM:200990
Atelosteogenesis, Type Ii	Thoracic hypoplasia, Micrognathia, Bifid humerus, Flat acetabular roof, Talipes equinovarus, Pulm...	OMIM:256050
Hartsfield Syndrome	Respiratory insufficiency, Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly, Hyperte...	ORPHA:2117
Meckel Syndrome 13	Occipital encephalocele, Polycystic kidney dysplasia, Micrognathia	OMIM:617562
Oculoauriculovertebral Spectrum With Radial Defects	Triphalangeal thumb, Vesicoureteral reflux, Aplasia/Hypoplasia affecting the eye, Preaxial hand p...	ORPHA:2549
Chromosome 20Q11-Q12 Deletion Syndrome	Deeply set eye, Camptodactyly, Short philtrum, Adducted thumb, Hypertelorism, Tarsal osteovalgus,...	OMIM:614257
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Abnormally large globe, Tapered finger, Wide nasal bridge, Cleft palate, Hearing impairment, Abno...	OMIM:239300
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Coxa valga, Narrow greater sciatic notch, Delayed ossification of carpal bones, Anal atresia, Lym...	OMIM:617425
Burn-Mckeown Syndrome	2-3 toe syndactyly, Cleft upper lip, Conductive hearing impairment, Mandibular prognathia, Ventri...	OMIM:608572
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Knee flexion contracture, 2-3 toe syndactyly, Abnormal renal collecting system morphology, Polyhy...	OMIM:616809
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Meningocele, Missing ribs, Duodenal stenosis, Intestinal malrotation, De...	ORPHA:1759
Hennekam Syndrome	Camptodactyly of finger, Conductive hearing impairment, Wide nasal bridge, Delayed eruption of te...	ORPHA:2136
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Macrotia, Wide mouth, Clinodactyly, Macroglossia, Everted lower lip vermili...	OMIM:616789
Acro-Renal-Mandibular Syndrome	Micrognathia, Hip dislocation, Pulmonary hypoplasia, Uterus didelphys, Rudimentary to absent tibi...	ORPHA:958
Chime Syndrome	Microdontia, Hip dislocation, Osteolysis, Cleft palate, Short palm, Hearing impairment, Ventricul...	ORPHA:3474
Nephronophthisis 2	Stage 5 chronic kidney disease, Enlarged kidney, Pulmonary hypoplasia, Absence of renal corticome...	OMIM:602088
Perlman Syndrome	Nephroblastoma, Retrognathia, Deeply set eye, Wide nasal bridge, Broad alveolar ridges, Micrognat...	ORPHA:2849
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Retrognathia, Patent foramen ovale, Patent ductus arteriosus, Short sternum, High palate, Ventric...	OMIM:620113
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Abnormal aortic morphology, Abnormal lower lip morphology, Ventricular sep...	ORPHA:1166
Ververi-Brady Syndrome	Metaphyseal irregularity, Macrotia, High palate, Wide mouth, Clinodactyly of the 5th finger, Ever...	OMIM:617982
Scarf Syndrome	Short sternum, Enamel hypoplasia, Long philtrum, Bifid scrotum, Barrel-shaped chest, Cryptorchidi...	OMIM:312830
20Q11.2 Microdeletion Syndrome	Deeply set eye, Abnormality of the ear, Camptodactyly, Short philtrum, Adducted thumb, Hypertelor...	ORPHA:444051
Femoral-Facial Syndrome	Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Micrognathia...	OMIM:134780
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar...	OMIM:208530
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Atrial septal de...	OMIM:616546
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Microphthalmia, Syndromic 9	Truncus arteriosus, Wide nasal bridge, Micrognathia, Anophthalmia, Ventricular septal defect, Atr...	OMIM:601186
Bardet-Biedl Syndrome 16	Polydactyly, Recurrent respiratory infections, Hypogonadism, Renal dysplasia, Stage 5 chronic kid...	OMIM:615993
Coach Syndrome 2	Hepatic fibrosis, Molar tooth sign on MRI, Hydrocephalus, Elevated hepatic transaminase, Apneic e...	OMIM:619111
Orofaciodigital Syndrome Type 3	Irregular dentition, Lobulated tongue, Short sternum, Stage 5 chronic kidney disease, Thoracic ky...	ORPHA:2752
Trisomy 18	Camptodactyly of finger, Non-midline cleft lip, Chiari malformation, Narrow pelvis bone, Holopros...	ORPHA:3380
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Respiratory insufficiency, Coxa valga, Abnormal ...	ORPHA:2484
49,Xxxxy Syndrome	Coxa valga, Renal dysplasia, Delayed eruption of teeth, Taurodontia, Hip dislocation, Elbow dislo...	ORPHA:96264
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Polydactyly, Hernia, Ventricular septal defect, Ventriculomegaly, Hydrocephalus, ...	OMIM:602501
Aarskog-Scott Syndrome	Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Everted lower lip vermilio...	ORPHA:915
Periventricular Nodular Heterotopia 7	2-3 toe syndactyly, Micrognathia, Elbow contracture, Contracture of the proximal interphalangeal ...	OMIM:617201
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus, Syndactyly, Postaxial hand polydactyly, Polymicrogyria	OMIM:615938
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Retrognathia, High palate, Hip contracture, Micrognathia, Elbow flexion contracture, Internally r...	OMIM:617468
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, 2-3 toe syndactyly, Bifid tongue, Ventriculomegaly, Micrognathia, ...	ORPHA:818
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Anophthalmia, Orbital encephalocele, Agenesis of corpus callosum, Congen...	OMIM:164180
Charlie M Syndrome	Triphalangeal thumb, Non-midline cleft lip, Macrotia, Finger syndactyly, Wide nasal bridge, Micro...	ORPHA:1406
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Missing ribs, Posterior rib fusion, Spina bifida occulta, Abnormal rib morphology, ...	ORPHA:1797
Smith-Lemli-Opitz Syndrome	Hip subluxation, 2-3 toe syndactyly, Micrognathia, Bifid uvula, Hip dislocation, Pulmonary hypopl...	OMIM:270400
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Patent ductus arteriosus, Long philtrum, Toe syndactyly, Micrognathia, Renal agenesis, Hydrocepha...	ORPHA:171839
Tetrasomy 5P	Cyanosis, Micrognathia, Pulmonary hypoplasia, Overlapping toe, Short hallux, Pericallosal lipoma,...	ORPHA:3309
Coach Syndrome 1	Hepatic fibrosis, Multiple small medullary renal cysts, Encephalocele, Cirrhosis, Wide mouth, Mol...	OMIM:216360
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Chudley-Mccullough Syndrome	Gray matter heterotopia, Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydroceph...	OMIM:604213
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Agnathia-Otocephaly Complex	Mandibular aplasia, Conductive hearing impairment, Micrognathia, Secundum atrial septal defect, P...	OMIM:202650
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Distal Trisomy 5Q	Absent thumb, Macrotia, Ventricular septal defect, Long philtrum, Aplasia/Hypoplasia of the gallb...	ORPHA:96097
Congenital Alveolar Capillary Dysplasia	Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Asplenia, Absen...	ORPHA:210122
Developmental And Epileptic Encephalopathy 66	Anemia, Ventricular septal defect, Macrodontia of permanent maxillary central incisor, Widely spa...	OMIM:618067
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Mandibular aplasia, Narrow internal auditory canal, Hypopla...	ORPHA:990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus, Cutis marmorata, Postaxial hand polydactyly, Polymicrogyria	OMIM:615937
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Anencephaly, Bifid uvula, Camptodactyly, Malformation of the hepatic...	OMIM:614175
Distal Monosomy 10P	Hearing abnormality, Non-midline cleft lip, Macrotia, Abnormality of the elbow, Ectopic anus, Wid...	ORPHA:1580
Walker-Warburg Syndrome	Metatarsus valgus, Ventriculomegaly, Abnormality of neuronal migration, Bifid uvula, Lissencephal...	ORPHA:899
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Cleft upper lip, Foot oligodactyly, Ventricular septal defect, Anterior encephalocele, Bilateral ...	OMIM:601357
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Respiratory insufficiency, Flexion contracture, Lateral ventricle dilatation, Micrognathia, Elbow...	OMIM:210710
Heterotaxy, Visceral, 7, Autosomal	Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ...	OMIM:616749
Hypertelorism, Microtia, Facial Clefting Syndrome	2-3 toe syndactyly, Cleft upper lip, Conductive hearing impairment, Short 5th finger, Microtia, M...	OMIM:239800
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Thick upper lip vermilion, Camptodactyly, Overlapping toe, Smooth philtrum, Thin lower lip vermil...	ORPHA:363444
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Multicystic kidney dysplasia, Conductive hearing impairment, Sensorineur...	ORPHA:261197
Mucolipidosis Ii Alpha/Beta	Hip subluxation, Coxa valga, Micrognathia, Flared iliac wing, Camptodactyly, Hip dislocation, Hyp...	OMIM:252500
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Dextrocardia	OMIM:606217
Vacterl/Vater Association	Non-midline cleft lip, Ambiguous genitalia, Abnormal cardiac septum morphology, Abnormal rib morp...	ORPHA:887
Holoprosencephaly 11	Polysplenia, Holoprosencephaly, Proptosis, Cleft lip, Cleft palate, Hypotelorism	OMIM:614226
Meckel Syndrome, Type 7	Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Multicystic kidney dysplasia, Stag...	OMIM:267010
Bardet-Biedl Syndrome 10	Renal cyst, Polydactyly, Renal insufficiency, Hypogonadism	OMIM:615987
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Conductive hearing impairment, Micrognathia, Bifid uvula, Camptodacty...	OMIM:300373
Atelosteogenesis Type I	Thoracic hypoplasia, Rhizomelia, Short long bone, Micrognathia, Abnormal pancreatic duct morpholo...	ORPHA:1190
Nephronophthisis 13	Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Int...	OMIM:614377
Cerebrooculonasal Syndrome	Macrotia, High palate, Anophthalmia, Long philtrum, Abnormal tragus morphology, Widely spaced tee...	ORPHA:66625
Anophthalmia Plus Syndrome	Non-midline cleft lip, Anophthalmia, Aplasia/Hypoplasia of the earlobes, Spina bifida, Hypertelor...	ORPHA:1104
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Ambiguous genitalia, Aplasia/hypoplasia of the femur, Micrognathia, Disl...	ORPHA:2839
Skraban-Deardorff Syndrome	Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla...	OMIM:617616
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Brachydactyly, Lateral ...	OMIM:615633
Chung-Jansen Syndrome	Macrotia, Tapered finger, High palate, Long philtrum, Deeply set eye, Hip dysplasia, Micrognathia...	OMIM:617991
Greig Cephalopolysyndactyly Syndrome	Preaxial hand polydactyly, Ventriculomegaly, Joint contracture of the hand, Preaxial foot polydac...	OMIM:175700
Coffin-Siris Syndrome 1	Conical tooth, Coxa valga, Delayed eruption of teeth, Microdontia, Spina bifida occulta, Dislocat...	OMIM:135900
Multiple Pterygium Syndrome, Escobar Variant	Absence of labia majora, Micrognathia, Hip dislocation, Pulmonary hypoplasia, Camptodactyly, Disl...	OMIM:265000
Baraitser-Winter Syndrome 1	Patent ductus arteriosus, Retrognathia, Cleft upper lip, Sensorineural hearing impairment, Long p...	OMIM:243310
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly	OMIM:616890
Bent Bone Dysplasia Syndrome 2	Short sternum, Short tibia, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,...	OMIM:620076
Charge Syndrome	Polyhydramnios, Micrognathia, Secundum atrial septal defect, Lop ear, Holoprosencephaly, Dysphagi...	OMIM:214800
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,...	OMIM:617610
1Q21.1 Microduplication Syndrome	Hip dysplasia, Hydrocephalus, Hip dislocation, Hypospadias, Cryptorchidism, Tetralogy of Fallot, ...	ORPHA:250994
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Situs inversus totalis, Dextrocardia, Recurrent otitis media	OMIM:618948
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Gastroesophageal reflux, High palate, Pierre-Robin sequence, Glossoptosis, Wide nasal bridge, Dee...	OMIM:613604
Joubert Syndrome 37	High palate, Deeply set eye, Wide nasal bridge, Joint hypermobility, Hypertelorism, Posteriorly r...	OMIM:619185
Aicardi Syndrome	Bifid ribs, Cleft upper lip, Precocious puberty, Ventriculomegaly, Small hand, Malabsorption, Hip...	ORPHA:50
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Vertebral hypoplasia, Abnormal cardiac septum morphology, Micrognathia, Epiphyseal stippling, Pul...	OMIM:308050
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Ventricular septal defect, Short ribs, Short long bone, Thoracic dysplasia, ...	OMIM:615503
1P36 Deletion Syndrome	Camptodactyly of finger, Abnormality of the anus, Abnormal cardiac septum morphology, Ventriculom...	ORPHA:1606
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventriculomegaly, Micrognathia, 2-3 toe cutaneous syndactyly, Smooth philtrum, Cleft palate, Atro...	OMIM:618454
Cornelia De Lange Syndrome 5	Retrognathia, Gastroesophageal reflux, High palate, Small hand, Long philtrum, Widely spaced teet...	OMIM:300882
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Epiphyseal stippling, Hepatomegaly	OMIM:614859
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Horizontal ribs, Ambiguous genitalia, Thoracic hypoplasia, Long philtrum, Ventricular septal defe...	OMIM:617895
Diamond-Blackfan Anemia 6	Triphalangeal thumb, Ventricular hypertrophy, Patent ductus arteriosus, Cleft upper lip, Retrogna...	OMIM:612561
Orofaciodigital Syndrome Type 5	Non-midline cleft lip, Bifid tongue, Cleft soft palate, Bifid uvula, Abnormal oral frenulum morph...	ORPHA:2919
Renal Tubular Dysgenesis	Proximal tubulopathy, Pulmonary hypoplasia, Nephropathy, Multiple renal cysts, Bilateral single t...	ORPHA:3033
Wolf-Hirschhorn Syndrome	Abnormal cardiac septum morphology, Micrognathia, Abnormal lip morphology, Abnormal thorax morpho...	ORPHA:280
Nephrosialidosis	Nephrotic syndrome, Pericardial effusion, Nephropathy, Bone-marrow foam cells, Ascites, Renal ins...	OMIM:256150
Chromosome 3Q13.31 Deletion Syndrome	Macrotia, High palate, Ventriculomegaly, Short philtrum, Alobar holoprosencephaly, Hypertelorism,...	OMIM:615433
Polydactyly, Postaxial, Type A7	Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ...	OMIM:617642
Orofaciodigital Syndrome Type 6	Conductive hearing impairment, Abnormality of neuronal migration, Micrognathia, Abnormal oral fre...	ORPHA:2754
Bardet-Biedl Syndrome 4	Polydactyly, Hypogonadism, External genital hypoplasia, Abnormality of the kidney, Brachydactyly,...	OMIM:615982
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Short phalanx of finger, Ventriculomegaly, Renal dysplasia, Micrognathia, Microdontia, Bifid uvul...	OMIM:266920
Thanatophoric Dysplasia, Type I	Metaphyseal irregularity, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Short greater sciati...	OMIM:187600
Warburg Micro Syndrome 1	Macrotia, Deeply set eye, Optic atrophy, Wide nasal bridge, Micrognathia, Joint hypermobility, Ov...	OMIM:600118
Pallister-Hall Syndrome	Atrioventricular canal defect, Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, ...	ORPHA:672
Marden-Walker Syndrome	Camptodactyly of finger, Renal dysplasia, Micrognathia, Bifid uvula, Metatarsus adductus, Abnorma...	ORPHA:2461
Greenberg Dysplasia	Short phalanx of finger, Thoracic hypoplasia, Micrognathia, Tetraphocomelia, Epiphyseal stippling...	OMIM:215140
Nabais Sa-De Vries Syndrome, Type 2	Polyhydramnios, Gastroesophageal reflux, Multicystic kidney dysplasia, Tapered finger, High palat...	OMIM:618829
Neu-Laxova Syndrome 1	Ventriculomegaly, Toe syndactyly, Micrognathia, Camptodactyly, Pulmonary hypoplasia, Lissencephal...	OMIM:256520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Respiratory insufficiency, Cerebellar dysplasia, Agenesis of cerebellar vermis, Ventriculomegaly,...	OMIM:613153
Poland Syndrome	Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd...	OMIM:173800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Thoracic hypoplasia, Short long bone, Micrognathia, Pulmonary hypoplasia, Micromelia, Narrow mout...	OMIM:224410
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Complete atrioventricular canal defect	OMIM:619142
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Non-midline cleft lip, Radioulnar synostosis, Clinodactyly of the 5th finger, Limitation of joint...	ORPHA:2725
Turnpenny-Fry Syndrome	Tapered finger, Microdontia, Pectus excavatum, Overlapping toe, Hypoplasia of the primary teeth, ...	OMIM:618371
Bardet-Biedl Syndrome 17	Polydactyly, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot polydactyly, R...	OMIM:615994
Emanuel Syndrome	Truncus arteriosus, Multiple joint contractures, Delayed eruption of teeth, Ventriculomegaly, Mic...	ORPHA:96170
Kaposiform Lymphangiomatosis	Pancreatic cysts, Anemia, Abnormality of the ischium, Pericardial effusion, Enlarged kidney, Abno...	ORPHA:464329
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Deeply set eye, Fle...	OMIM:610758
Spondylocostal Dysostosis 4, Autosomal Recessive	Bell-shaped thorax, Short thorax, Myelomeningocele, Ectopic anus, Neurogenic bladder, Hydrocephal...	OMIM:613686
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Cerebellar hypoplasia, Micrognathia, Hydrocephalus, Hypertelorism, Dandy-Walker malformation	ORPHA:1538
Dpm1-Cdg	Knee flexion contracture, Abnormal dentate nucleus morphology, Hepatic fibrosis, Ventriculomegaly...	ORPHA:79322
Weiss-Kruszka Syndrome	Horizontal crus of helix, Ventricular septal defect, Microtia, Exaggerated cupid's bow, Bicuspid ...	OMIM:618619
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Median cleft lip, Phocomelia, Holoprosencephaly, Cyclopia, Hea...	ORPHA:3186
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Renal cortical cysts, Wide anterior fontanel, Ventriculomegaly	OMIM:609180
Catel-Manzke Syndrome	Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Glossoptosis, Micrognathia...	ORPHA:1388
Emanuel Syndrome	Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Hearing impairment, Broad ja...	OMIM:609029
Orofaciodigital Syndrome Iii	Short sternum, Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Pectu...	OMIM:258850
Acrocardiofacial Syndrome	Camptodactyly of finger, Hallux valgus, Truncus arteriosus, Wide nasal bridge, Toe syndactyly, Cl...	ORPHA:2008
Isolated Polycystic Liver Disease	Gastroesophageal reflux, Abnormality of the pancreas, Vascular dilatation, Polycystic liver disea...	ORPHA:2924
Ivic Syndrome	Absent thumb, Short femur, Thrombocytopenia, Hearing impairment, Short 1st metacarpal, Carpal syn...	OMIM:147750
Microphthalmia, Syndromic 12	Retrognathia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Micrognathia, Pul...	OMIM:615524
Poland Syndrome	Spina bifida occulta, Abnormal rib morphology, Absent hand, Vesicoureteral reflux, Abnormality of...	ORPHA:2911
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular...	OMIM:220210
Developmental And Epileptic Encephalopathy 36	Flexion contracture, Small hand, Hydrocephalus, Microretrognathia, Hypertelorism, Hepatomegaly, L...	OMIM:300884
Pagod Syndrome	Meningocele, Ambiguous genitalia, Multicystic kidney dysplasia, Encephalocele, Abnormal testis mo...	ORPHA:991
Alg3-Cdg	High palate, Abnormal uvula morphology, Neural tube defect, Pulmonary hypoplasia, Macroglossia, L...	ORPHA:79321
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	2-3 toe syndactyly, Cleft upper lip, Gastroesophageal reflux, Short 5th finger, Low-set ears, Ven...	OMIM:600987
2Q24 Microdeletion Syndrome	Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty...	ORPHA:1617
Aa Amyloidosis	Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k...	ORPHA:85445
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Metatarsus valgus, Cleft upper lip, Sensorineural hearing impairment, Ve...	ORPHA:261236
Mullegama-Klein-Martinez Syndrome	Polydactyly, Sensorineural hearing impairment, Long philtrum, Abnormal cardiac septum morphology,...	OMIM:301022
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Bifid ureter, Camptodactyly, Metatarsus adductus, Spina bifi...	ORPHA:500095
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul...	OMIM:607941
Acromelic Frontonasal Dysostosis	Short tibia, Polydactyly, Ventriculomegaly, Periventricular nodular heterotopia, Optic nerve hypo...	OMIM:603671
Heterotaxy, Visceral, 2, Autosomal	Atrioventricular canal defect, Double outlet right ventricle, Asplenia, Transposition of the grea...	OMIM:605376
Monosomy 18P	Abnormal antihelix morphology, Macrotia, Micrognathia, Hypodontia, Short philtrum, Downturned cor...	ORPHA:1598
Ciliary Dyskinesia, Primary, 1	Asplenia, Conductive hearing impairment, Immotile cilia, Communicating hydrocephalus, Chronic sin...	OMIM:244400
Ring Chromosome 21 Syndrome	Cutaneous photosensitivity, Small hand, Clinodactyly, Azoospermia, Syndactyly, Holoprosencephaly,...	ORPHA:1445
Cousin Syndrome	2-3 toe syndactyly, Wrist flexion contracture, Humeroradial synostosis, Micrognathia, Camptodacty...	OMIM:260660
Fetal Encasement Syndrome	Bilateral trilobed lung, Upper limb undergrowth, Lower limb undergrowth, Congenital diaphragmatic...	OMIM:613630
Fibrochondrogenesis 1	Dumbbell-shaped long bone, Camptodactyly, Cleft palate, Narrow greater sciatic notch, Short palm,...	OMIM:228520
Chromosome 9P Deletion Syndrome	Tapered finger, Micrognathia, Clinodactyly of the 5th toe, Prominent antihelix, Thin vermilion bo...	OMIM:158170
Congenital Disorder Of Glycosylation, Type Iy	Macrotia, Deeply set eye, Wide mouth, Widely spaced teeth, Micrognathia, Clinodactyly, Hypospadias	OMIM:300934
Carpenter Syndrome 2	Wide nasal bridge, Camptodactyly, Talipes equinovarus, Posteriorly rotated ears, Narrow palate, A...	OMIM:614976
H Syndrome	Cleft upper lip, Hallux valgus, Recurrent fractures, Malabsorption, Enlarged kidney, Abnormality ...	ORPHA:168569
Prune Belly Syndrome	Congenital posterior urethral valve, Abnormality of the bladder, Pectus excavatum, Abnormality of...	ORPHA:2970
D-Bifunctional Protein Deficiency	Retrognathia, High palate, Long philtrum, Ventriculomegaly, Thoracic hypoplasia, Micrognathia, El...	OMIM:261515
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co...	OMIM:613496
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia, Orofacial cleft	OMIM:611638
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Patent ductus arterio...	ORPHA:2547
Atelosteogenesis Type Ii	Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha...	ORPHA:56304
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Camptodactyly of finger, Multiple joint contractures, Ventriculomegaly, Lobar holoprosencephaly, ...	ORPHA:468631
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Short phalanx of finger, Retrognathia, Moyamoya phenomenon, Abnormal hand morphology, Small hand,...	OMIM:300845
Bohring-Opitz Syndrome	Polyhydramnios, Flexion contracture, Tapered finger, Wide nasal bridge, Micrognathia, Camptodacty...	OMIM:605039
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bifid uvula, Hydrocephalus, Cleft palate, Omphalocele	OMIM:258320
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts, Long philtrum, Wide anterior fontanel, Ventriculomeg...	OMIM:618548
Opitz-Kaveggia Syndrome	Multiple joint contractures, Micrognathia, Camptodactyly, Broad hallux, Radial deviation of finge...	OMIM:305450
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short 5th finger, Optic atrophy, Wide nasal bridge, Everted lower lip vermilion, Bilateral sensor...	OMIM:220500
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	2-3 toe syndactyly, Stapes ankylosis, Ventriculomegaly, Lobar holoprosencephaly, Smooth philtrum,...	OMIM:614701
Chromosome 6Pter-P24 Deletion Syndrome	Posteriorly rotated ears, Rocker bottom foot, Patent foramen ovale, Ventricular septal defect, Hi...	OMIM:612582
Alagille Syndrome	Deeply set eye, Ventricular septal defect, Nephrotic syndrome, Renal hypoplasia/aplasia, Microgna...	ORPHA:52
Myhre Syndrome	2-3 toe syndactyly, Pericardial effusion, Camptodactyly, Overlapping toe, Radial deviation of fin...	OMIM:139210
Smith-Magenis Syndrome	Mandibular prognathia, Deeply set eye, Everted upper lip vermilion, Abnormality of the dentition,...	OMIM:182290
Greig Cephalopolysyndactyly Syndrome	Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Agenesis...	ORPHA:380
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Asplenia, Ascending tubular aorta aneurysm, Abdominal situs ambigu...	OMIM:270100
Otopalatodigital Syndrome, Type I	Conductive hearing impairment, Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatar...	OMIM:311300
Trisomy 8Q	Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Bifid tongue, High palate, Wide...	ORPHA:1752
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the philtrum, Finger syndactyly, Abnormality of the elbow, Radioulnar synostosis, ...	ORPHA:3268
Braddock-Carey Syndrome 1	Enamel hypoplasia, Multicystic kidney dysplasia, Macrotia, Small hand, Ventricular septal defect,...	OMIM:619980
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad first metatarsal, Polydactyly, Atrioventricular canal defect, Biliary cirrhosis, Unbalanced...	OMIM:619534
Inverted Duplicated Chromosome 15 Syndrome	2-3 toe syndactyly, High palate, Ventricular septal defect, Deeply set eye, Clinodactyly of the 5...	ORPHA:3306
1Q21.1 Microdeletion Syndrome	Abnormal cardiac septum morphology, Wide nasal bridge, Toe syndactyly, Talipes equinovarus, Vesic...	ORPHA:250989
Primary Pulmonary Hypoplasia	Cyanosis, Pneumothorax, Patellar hypoplasia, Abnormal breath sound, Asthma, Micrognathia, Secundu...	ORPHA:2257
Juberg-Hayward Syndrome	Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal carpal...	OMIM:216100
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Sensorineural hearing impairment, High palate, Wide nasal bridge, Deeply set eye, T...	OMIM:618342
Diaphanospondylodysostosis	Enlarged thorax, Short thorax, Myelomeningocele, Missing ribs, Narrow pelvis bone, Multiple renal...	ORPHA:66637
Distal Monosomy 12Q	2-3 toe syndactyly, Micrognathia, Elbow flexion contracture, Median cleft lip, Overlapping toe, U...	ORPHA:96149
Campomelia, Cumming Type	Pancreatic cysts, Lymphedema, Polycystic kidney dysplasia, Polysplenia, Polycystic liver disease,...	OMIM:211890
Momo Syndrome	Thick upper lip vermilion, Dental malocclusion, Short sternum, High palate, Long philtrum, Delaye...	ORPHA:2563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Respiratory insufficiency, Flexion contracture, Encephalocele, Hypoplasia of the brainstem, Cereb...	OMIM:253800
Immunodeficiency 47	Leukopenia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Sensor...	OMIM:300972
Holoprosencephaly 7	Lobar holoprosencephaly, Median cleft lip, Holoprosencephaly, Cleft palate, Hypoplasia of the bra...	OMIM:610828
Verheij Syndrome	Vertebral fusion, Short 5th finger, Long philtrum, Abnormal cardiac septum morphology, Wide nasal...	OMIM:615583
Trisomy 4P	Camptodactyly of finger, Abnormal antihelix morphology, Preaxial hand polydactyly, Radial club ha...	ORPHA:1738
Joubert Syndrome With Ocular Defect	Encephalocele, Molar tooth sign on MRI, Foot polydactyly, Hydrocephalus, Hand polydactyly, Cerebe...	ORPHA:220493
Kagami-Ogata Syndrome	Retrognathia, Patent ductus arteriosus, Bell-shaped thorax, Coxa valga, Ventricular septal defect...	OMIM:608149
Oculodentodigital Dysplasia	Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Optic atrophy, Toe...	ORPHA:2710
Charge Syndrome	Polyhydramnios, Aortic arch aneurysm, Optic atrophy, Abnormal cardiac septum morphology, Delayed ...	ORPHA:138
Autoinflammation, Immune Dysregulation, And Eosinophilia	Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Eo...	OMIM:618999
Classical-Like Ehlers-Danlos Syndrome Type 2	Shoulder dislocation, Hallux valgus, Pericardial effusion, Micrognathia, Hip dislocation, Elbow d...	ORPHA:536532
Turner Syndrome Due To Structural X Chromosome Anomalies	Biliary cirrhosis, Enlarged thorax, Short 4th metacarpal, Gonadoblastoma, Micrognathia, Elevated ...	ORPHA:99413
Mosaic Monosomy X	Biliary cirrhosis, Enlarged thorax, Short 4th metacarpal, Gonadoblastoma, Micrognathia, Elevated ...	ORPHA:99228
Monosomy X	Biliary cirrhosis, Enlarged thorax, Short 4th metacarpal, Gonadoblastoma, Micrognathia, Elevated ...	ORPHA:99226
Turner Syndrome	Biliary cirrhosis, Enlarged thorax, Short 4th metacarpal, Gonadoblastoma, Micrognathia, Elevated ...	ORPHA:881
Cat Eye Syndrome	Micrognathia, Cleft palate, Hearing impairment, Rectal fistula, Vesicoureteral reflux, Ventricula...	OMIM:115470
Johnson Neuroectodermal Syndrome	Atresia of the external auditory canal, Patent ductus arteriosus, Retrognathia, Conductive hearin...	OMIM:147770
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Micrognathia, Radial bowing, Pulmonary hypoplasia, Lower limb undergrowth, I...	ORPHA:3035
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Polydactyly, Deeply set eye, Clinodactyly, Hypertelorism, Narrow mouth, Malar...	OMIM:615984
22Q11.2 Deletion Syndrome	Meningocele, Hypoplasia of the thymus, Truncus arteriosus, Micrognathia, Abnormal thorax morpholo...	ORPHA:567
Schinzel-Giedion Syndrome	Ventriculomegaly, Delayed eruption of teeth, Micrognathia, Abnormal thorax morphology, Camptodact...	ORPHA:798
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Ventricular septal defect, Narrow palate, High palate, Long philtrum, M...	OMIM:617022
Congenital Myopathy 17	Dental malocclusion, Respiratory tract infection, Mandibular prognathia, High palate, Long philtr...	OMIM:618975
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cereb...	OMIM:617967
Ogden Syndrome	Thick upper lip vermilion, Metatarsus valgus, Everted upper lip vermilion, Ventriculomegaly, Mini...	OMIM:300855
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Cleft lower lip, Cleft upper lip, Fusion of gums, Abnormal mandible morpholo...	ORPHA:401942
Momo Syndrome	Short sternum, Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick ...	OMIM:157980
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4	3-Methylglutaconic aciduria, Cerebellar hypoplasia, Pulmonary hypoplasia, Apnea, Neonatal death	OMIM:615228
Tetrasomy 9P	Abnormal cardiac septum morphology, Renal dysplasia, Micrognathia, Bifid uvula, Pulmonary hypopla...	ORPHA:3310
Hajdu-Cheney Syndrome	Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Dislocated ra...	OMIM:102500
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis, Abnormality of the urinary system, Occipital encephalocele, Agenesis of cere...	OMIM:213010
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Subvalvular aortic stenosis, Complete atrioventricular canal defect	OMIM:217085
Suleiman-El-Hattab Syndrome	Polydactyly, Wide nasal bridge, Smooth philtrum, Hearing impairment, Patent foramen ovale, Ventri...	OMIM:618950
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Miller-Dieker Syndrome	Clinodactyly of the 5th finger, Lissencephaly, Abnormal upper lip morphology, Nephropathy, Omphal...	ORPHA:531
Microcephaly-Micromelia Syndrome	Short tibia, Absent thumb, Aqueductal stenosis, Humeroradial synostosis, Simplified gyral pattern...	OMIM:251230
Branchiootorenal Syndrome 1	Renal steatosis, Vesicoureteral reflux, High palate, Renal dysplasia, Renal malrotation, Microdon...	OMIM:113650
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hip contracture, Long philtrum, Hypoplastic ilia, Delayed eruption ...	ORPHA:85201
Chromosome 18Q Deletion Syndrome	Conductive hearing impairment, Ascending tubular aorta aneurysm, Optic atrophy, Toe syndactyly, B...	OMIM:601808
Autosomal Recessive Amelia	Non-midline cleft lip, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs, Micro...	ORPHA:1027
Orofaciodigital Syndrome Xv	Lobulated tongue, Hydronephrosis, Ventriculomegaly, Molar tooth sign on MRI, Midline notch of upp...	OMIM:617127
Kury-Isidor Syndrome	High palate, Finger syndactyly, Ventricular septal defect, Widely spaced teeth, Long philtrum, Hi...	OMIM:619762
Stormorken Syndrome	Asplenia, Anemia, Howell-Jolly bodies, Deeply set eye, Hematuria, Short philtrum, Stroke-like epi...	OMIM:185070
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Preaxial hand polydactyly, Large hands, Orofacial cleft	ORPHA:85287
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Abnormal morphology of the radius, Median cleft lip, Holoprosencephaly, Hyperte...	ORPHA:2165
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Flexion contracture, Hallux valgus, Wide nasal bridge, Delayed eruption of teeth, Bifid...	ORPHA:261537
Boomerang Dysplasia	Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Finger sy...	ORPHA:1263
Arima Syndrome	Renal tubular atrophy, Hepatic steatosis, Brainstem dysplasia, Hepatomegaly, Postaxial hand polyd...	OMIM:243910
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration, Neoplasm of the liver, Elevated hepatic transaminase, Chronic ...	ORPHA:1454
Mosaic Trisomy 14	Camptodactyly of finger, High palate, Ectopic anus, Wide mouth, Narrow chest, Micrognathia, Hypop...	ORPHA:1703
Keratoconus Posticus Circumscriptus	Vesicoureteral reflux, Cleft upper lip, Recurrent urinary tract infections, Clinodactyly of the 5...	OMIM:244600
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis, Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Micrognathi...	OMIM:602418
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Microtia, Renal hy...	ORPHA:1770
Bardet-Biedl Syndrome 19	Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart...	OMIM:615996
Temtamy Syndrome	Short toe, Genu varum, Thick lower lip vermilion, Micrognathia, Aortic aneurysm, Clinodactyly of ...	ORPHA:1777
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Patent ductus arteriosus, Anophthalmia, Ventricular septal defect, Hydrocephalu...	ORPHA:77298
Raine Syndrome	Micrognathia, Microdontia, Pulmonary hypoplasia, Cleft palate, Gingival overgrowth, Arthrogryposi...	OMIM:259775
Fontaine Progeroid Syndrome	Respiratory insufficiency, Conductive hearing impairment, Pneumothorax, Recurrent aspiration pneu...	OMIM:612289
Freeman-Sheldon Syndrome	Camptodactyly of finger, Polyhydramnios, Deeply set eye, Long philtrum, Wide nasal bridge, Ulnar ...	ORPHA:2053
Roberts Syndrome	Wrist flexion contracture, Micrognathia, Long penis, Phocomelia, Radial deviation of finger, Clef...	ORPHA:3103
Fanconi Anemia, Complementation Group W	Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology, Polysplenia, Renal hypopl...	OMIM:617784
Congenitally Uncorrected Transposition Of The Great Arteries	Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp...	ORPHA:860
3C Syndrome	Atrioventricular canal defect, Ventriculomegaly, Ectopic anus, Micrognathia, Cleft palate, Orofac...	ORPHA:7
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral ...	OMIM:600666
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short tibia, Spinal dysraphism, Thoracic hypoplasia, Coxa valga, Micrognathia, Epiphyseal stippli...	ORPHA:96334
Orofaciodigital Syndrome Type 1	Lip pit, Wide nasal bridge, Micrognathia, Elevated hepatic transaminase, Median cleft lip, Postax...	ORPHA:2750
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Conductive hearing impairment, Toe syndactyly, Micrognathia, Elbow con...	OMIM:304120
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	2-3 toe syndactyly, Abnormality of the upper limb, Gastroesophageal reflux, High palate, Deeply s...	ORPHA:502434
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Micrognathia, Hydrocephalus, Abnor...	ORPHA:3301
Chromosome 13Q14 Deletion Syndrome	Micrognathia, Hip dislocation, Everted lower lip vermilion, Overlapping toe, Holoprosencephaly, A...	OMIM:613884
Ectrodactyly-Polydactyly	Postaxial hand polydactyly, Split foot, Split hand	OMIM:225290
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Abnormal testis morphology, Aplasia/Hypoplasia of the lungs, Bilateral single transverse palmar c...	ORPHA:1548
Ellis Van Creveld Syndrome	Atrioventricular canal defect, Delayed eruption of teeth, Microdontia, Abnormal oral frenulum mor...	ORPHA:289
Mowat-Wilson Syndrome	Asplenia, Conductive hearing impairment, Tapered finger, Hallux valgus, Abnormal cardiac septum m...	ORPHA:2152
Orofaciodigital Syndrome V	Bifid tongue, Bifid uvula, Median cleft lip, Postaxial hand polydactyly, Cleft palate, Optic disc...	OMIM:174300
Fryns Microphthalmia Syndrome	Macrotia, Anophthalmia, Neural tube defect, Abnormality of the ear, Microphthalmia, Bilateral cle...	OMIM:600776
Cerebrofaciothoracic Dysplasia	Bifid ribs, Cleft upper lip, Ventriculomegaly, Wide mouth, Narrow chest, Rib fusion, Sprengel ano...	ORPHA:1394
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges...	OMIM:176240
Structural Heart Defects And Renal Anomalies Syndrome	Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ove...	OMIM:617478
Orofaciodigital Syndrome Xiv	Bifid tongue, Micrognathia, Broad hallux, Holoprosencephaly, Postaxial hand polydactyly, Cleft pa...	OMIM:615948
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Flexion contracture, Tapered finger, Toe syndactyly, Micrognathia, Everted lower lip vermilion, S...	OMIM:619720
Temtamy Preaxial Brachydactyly Syndrome	Abnormally large globe, Optic atrophy, Microdontia, Micrognathia, Abnormal optic disc morphology,...	ORPHA:363417
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Ascending tubular aorta aneurysm, Truncus arteriosus, Microdontia, Micrognathia, Bifid uvula, Cam...	OMIM:612474
3Mc Syndrome 1	Conductive hearing impairment, Short 5th finger, Abnormality of the abdominal wall, Spina bifida ...	OMIM:257920
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Johanson-Blizzard Syndrome	Anemia, Abnormality of the pancreas, Sensorineural hearing impairment, Abnormal cardiac septum mo...	ORPHA:2315
Kapur-Toriello Syndrome	Camptodactyly of finger, Patent ductus arteriosus, Cleft upper lip, Conductive hearing impairment...	OMIM:244300
Holoprosencephaly 9	Prominent antihelix, Optic nerve hypoplasia, Holoprosencephaly, Postaxial hand polydactyly, Cleft...	OMIM:610829
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Gout, Decreased glomerular filtratio...	OMIM:618061
Focal Dermal Hypoplasia	Short phalanx of finger, Bifid ureter, Short 4th metacarpal, Chiari malformation, Delayed eruptio...	OMIM:305600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Micrognathia, Hypop...	OMIM:616171
Smith-Magenis Syndrome	Conductive hearing impairment, Wide nasal bridge, Toe syndactyly, Micrognathia, Taurodontia, Abno...	ORPHA:819
Tricuspid Atresia	Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept...	ORPHA:1209
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Radioulnar synostosis, Pectus excavatum, Abnormal palate morphology...	ORPHA:3270
Catel-Manzke Syndrome	Micrognathia, Bifid uvula, Camptodactyly, Short femur, Hyperphalangy of the 2nd finger, Ulnar dev...	OMIM:616145
Joubert Syndrome 1	Brainstem dysplasia, Central apnea, Postaxial hand polydactyly, Enlarged fossa interpeduncularis,...	OMIM:213300
Vacterl With Hydrocephalus	Retrognathia, Anophthalmia, Aqueductal stenosis, Absence of the sacrum, Renal hypoplasia/aplasia,...	ORPHA:3412
Intellectual Developmental Disorder, X-Linked 108	Deeply set eye, Thin upper lip vermilion, Clinodactyly of the 5th finger, Long philtrum	OMIM:301024
Zttk Syndrome	Ventriculomegaly, Bifid uvula, Unilateral lung agenesis, Cervical ribs, Intestinal atresia, Ventr...	OMIM:617140
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep...	OMIM:615297
Nephronophthisis 19	Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th...	OMIM:616217
Metatropic Dysplasia	Camptodactyly of finger, Abnormal metaphysis morphology, Aplasia/Hypoplasia of the lungs, Narrow ...	ORPHA:2635
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Sensorineural hearing impairment, Cutaneous finger syndactyly, Toe syndactyly...	DECIPHER:46
Chromosome 10Q26 Deletion Syndrome	Toe syndactyly, Micrognathia, 2-3 toe cutaneous syndactyly, Radial deviation of finger, Smooth ph...	OMIM:609625
Lessel-Kreienkamp Syndrome	Patent ductus arteriosus, Patent foramen ovale, Dental malocclusion, Gastroesophageal reflux, Hyp...	OMIM:619149
Gaucher Disease Type 1	Pedal edema, Pericardial effusion, Increased bone mineral density, Osteolysis, Hepatomegaly, Thro...	ORPHA:77259
Oculofaciocardiodental Syndrome	2-3 toe syndactyly, Abnormal cardiac septum morphology, Delayed eruption of teeth, Peripheral pul...	ORPHA:2712
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication	OMIM:188740
Laterality Defects, Autosomal Dominant	Asplenia, Heterotaxy, Situs inversus totalis	OMIM:601086
Cerebrooculofacioskeletal Syndrome 1	Knee flexion contracture, Flexion contracture, Coxa valga, Sensorineural hearing impairment, Join...	OMIM:214150
Floating-Harbor Syndrome	Precocious puberty, Congenital posterior urethral valve, Microdontia, Dislocated radial head, Cel...	ORPHA:2044
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis	OMIM:614844
2q37 monosomy	Thin upper lip vermilion, Deeply set eye, Brachydactyly	DECIPHER:44
Mohr Syndrome	Conductive hearing impairment, Bifid tongue, Micrognathia, Partial duplication of the phalanges o...	OMIM:252100
Cerebrooculonasal Syndrome	Conductive hearing impairment, Optic nerve hypoplasia, Postaxial hand polydactyly, Cleft palate, ...	OMIM:605627
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Angioedema, Sensorineural hearing impairment, Small vessel vasculitis, Pericardia...	ORPHA:36412
Trichohepatoenteric Syndrome 1	Bifid uvula, Galactosuria, Hepatomegaly, Renal cortical microcysts, Splenomegaly, Hepatic fibrosi...	OMIM:222470
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, High palate, Long philtrum, Deeply set eye, Short philtrum, Coarct...	OMIM:618929
Wilson-Turner Syndrome	Tapered finger, Small hand, Deeply set eye, Microtia, Micrognathia, Malar prominence, Thin upper ...	ORPHA:3459
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Tapered finger, Small hand, Long philtrum, Microtia, Deeply set eye, Clinodactyly, Bifid uvula, E...	OMIM:618089
Gand Syndrome	Deeply set eye, Wide mouth, Wide nasal bridge, Short philtrum, Thin upper lip vermilion, Hypertel...	OMIM:615074
Borjeson-Forssman-Lehmann Syndrome	Short toe, Macrotia, Tapered finger, Deeply set eye, Shortening of all distal phalanges of the fi...	OMIM:301900
Achondrogenesis Type 2	Pierre-Robin sequence, Hypoplastic ilia, Short ribs, Short long bone, Delayed proximal femoral ep...	ORPHA:93296
Craniofacial Microsomia	Conductive hearing impairment, Micrognathia, Cervical ribs, Cleft palate, Atresia of the external...	OMIM:164210
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Wide anterior fontanel, Polycystic kidney dysplasia, Elevated hepatic transaminas...	ORPHA:26791
Thakker-Donnai Syndrome	Macrotia, Ventricular septal defect, Rectovaginal fistula, Communicating hydrocephalus, Anal atre...	ORPHA:1780
Multiple Pterygium Syndrome, X-Linked	Polyhydramnios, Cleft upper lip, Flexion contracture, Increased susceptibility to fractures, Vert...	OMIM:312150
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	High palate, Tapered finger, Deeply set eye, Short philtrum, Downturned corners of mouth, Bilater...	ORPHA:85280
Aymé-Gripp Syndrome	Tapered finger, Pericardial effusion, Camptodactyly, Pericarditis, Cleft palate, Posteriorly rota...	ORPHA:1272
Halperin-Birk Syndrome	Flexion contracture, High palate, Ventriculomegaly, Colpocephaly, Perimembranous ventricular sept...	OMIM:618651
Anencephaly 2	Anophthalmia, Cleft maxillary alveolar ridge, Anencephaly, Median cleft lip, Median cleft palate	OMIM:619452
Microphthalmia, Syndromic 2	2-3 toe syndactyly, Flexion contracture, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-...	OMIM:300166
Heme Oxygenase 1 Deficiency	Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p...	OMIM:614034
Holoprosencephaly 14	Ventriculomegaly, Median cleft lip, Holoprosencephaly, Cyclopia, Cleft palate, Double outlet righ...	OMIM:619895
Thanatophoric Dysplasia Type 1	Respiratory insufficiency, Ventriculomegaly, Short femur, Abnormal metaphysis morphology, Hearing...	ORPHA:1860
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pancreatic hypoplasia, Retrognathia, Arachnodactyly, Biliary hyperplasia, Perimembranous ventricu...	ORPHA:83617
Forsythe-Wakeling Syndrome	Macrotia, Deeply set eye, Nephrotic syndrome, Low-set ears, Thrombocytopenia, Osteoporosis	OMIM:613606
Recombinant 8 Syndrome	Camptodactyly of finger, Abnormality of the anus, Micrognathia, Abnormal oral frenulum morphology...	ORPHA:96167
Opitz Gbbb Syndrome	Ventriculomegaly, Recurrent aspiration pneumonia, Micrognathia, Tracheomalacia, Abnormality of th...	ORPHA:2745
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatic fibrosis, Deeply set eye, Elevated hepatic transaminase, Thin up...	OMIM:232400
Syngap1-Related Developmental And Epileptic Encephalopathy	Macrotia, High palate, Abnormal tongue physiology, Wide mouth, Deeply set eye, Hypospadias, Narro...	ORPHA:544254
Arthrogryposis, Distal, Type 2A	Wrist flexion contracture, Polyhydramnios, Ulnar deviation of the hand or of fingers of the hand,...	OMIM:193700
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Hypopl...	ORPHA:2476
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Aplasia/Hypoplasia of the lungs, Micrognathia, Abnormality of the upper urinar...	ORPHA:2145
Platyspondylic Dysplasia, Torrance Type	Genu varum, Short thorax, Metaphyseal cupping, Abnormal carpal morphology, Short foot, Pulmonary ...	ORPHA:85166
Robinow Syndrome, Autosomal Dominant 3	Short phalanx of finger, Bifid tongue, Micrognathia, Camptodactyly, Cleft palate, Gingival overgr...	OMIM:616894
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Small hand, Widely spaced teeth, Abnormality of the kidne...	ORPHA:459061
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus, Abnormal oral cavity morphology, Micrognathia, Hydrocephalus, Short phi...	ORPHA:1516
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Congenital Heart Defects And Skeletal Malformations Syndrome	Camptodactyly, Smooth philtrum, Aortic root aneurysm, Narrow maxilla, Ventricular septal defect, ...	OMIM:617602
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Flexion contracture, Hallux valgus, Optic atrophy, Delayed eruption of teeth, Wide nasa...	ORPHA:261552
Fraser Syndrome 1	Conductive hearing impairment, Abnormality of the anus, Wide nasal bridge, Cleft palate, Cupped e...	OMIM:219000
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, 11 pairs of ribs, Triphalangeal thumb, High palate, Absent forearm, Wide nasal bridg...	OMIM:201170
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Abnormal cerebellar vermis morphology, Hydrocephalus, Cerebellar hypoplasia	ORPHA:2703
X-Linked Intellectual Disability, Schimke Type	Knee flexion contracture, Vesicoureteral reflux, Hip contracture, High palate, Deeply set eye, El...	ORPHA:85285
Adams-Oliver Syndrome 2	Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar hypoplasia, Micrognathia, Hydrocep...	OMIM:614219
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Atrioventricular canal defect, Gastroesophageal reflux, Tapered finger, High palate...	OMIM:613792
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Dumbbell-shaped long bone, Thoracic hypoplasia, Pulmonary hypoplasia, Limb undergrowth, Metaphyse...	OMIM:151210
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Microdontia, Micrognathia, Broad hallux, Slender finger, Cle...	ORPHA:251028
Kallmann Syndrome-Heart Disease Syndrome	Midgut malrotation, Double outlet right ventricle, Sensorineural hearing impairment, Short lingua...	ORPHA:2326
Robinow Syndrome, Autosomal Recessive 2	Cleft soft palate, Micrognathia, Camptodactyly, Broad hallux, Absent uvula, Gingival overgrowth, ...	OMIM:618529
2Q37 Microdeletion Syndrome	Nephroblastoma, Abnormal aortic morphology, Multicystic kidney dysplasia, Conductive hearing impa...	ORPHA:1001
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Rib fusion, Slender finger, Contracture of the proximal inter...	OMIM:609813
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia...	OMIM:615285
Double Outlet Right Ventricle	Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ...	ORPHA:3426
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Cirrhosis, Abnormality of the upper limb, Encephalocele, Absent ...	ORPHA:974
Acrofacial Dysostosis 1, Nager Type	Absent thumb, Conductive hearing impairment, Hallux valgus, Toe syndactyly, Micrognathia, Hip dis...	OMIM:154400
Iniencephaly	Spinal dysraphism, Mandibular aplasia, Lissencephaly, Holoprosencephaly, Arthrogryposis multiplex...	ORPHA:63259
Arthrogryposis, Distal, Type 1C	Retrognathia, Camptodactyly of finger, Wrist flexion contracture, High palate, Hip contracture, E...	OMIM:619110
Fanconi Anemia, Complementation Group O	Absent thumb, Stage 5 chronic kidney disease, Hypoplasia of the radius, External genital hypoplas...	OMIM:613390
Jacobsen Syndrome	Flexion contracture, Ventricular septal defect, Macular hypoplasia, Micrognathia, Missing ribs, H...	OMIM:147791
Ciliary Dyskinesia, Primary, 20	Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis, Recurrent otit...	OMIM:615067
Miller-Dieker Lissencephaly Syndrome	Thick upper lip vermilion, Polydactyly, Recurrent aspiration pneumonia, Delayed eruption of teeth...	OMIM:247200
Tetraamelia Syndrome 1	Urethral atresia, Asplenia, Cleft upper lip, Micrognathia, Hydrocephalus, Renal agenesis, Anal at...	OMIM:273395
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat...	OMIM:309350
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Conductive hearing impairment, Tapered finger, Small hand, Optic atrophy, Sensorineural hearing i...	OMIM:618672
Mosaic Trisomy 16	Patent ductus arteriosus, Ventricular septal defect, Wide mouth, Craniofacial asymmetry, Short fe...	ORPHA:1708
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Retrognathia, 2-3 toe syndactyly, Deeply set eye, Deep philtrum, Wide nasal bridge, Thick vermili...	OMIM:620098
Intellectual Developmental Disorder, Autosomal Dominant 66	Aortic root aneurysm, Secundum atrial septal defect, Clinodactyly of the 5th finger, Toe clinodac...	OMIM:619910
Baller-Gerold Syndrome	Absent thumb, Aplasia of metacarpal bones, Micrognathia, Bifid uvula, Aphalangy of the hands, Ano...	OMIM:218600
Intellectual Developmental Disorder, Autosomal Dominant 2	Deeply set eye, Prominent fingertip pads, Cholesteatoma	OMIM:614113
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus, Hypertelorism, Narr...	ORPHA:83473
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Hearing abnormality, Mandibular prognathia, Abnormal finger morphology, Large iliac wing, Abnorma...	ORPHA:2511
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Preaxial foot polydactyly, Multinodular goiter, Bilateral triphalangeal thumbs, Renal cyst, Posta...	OMIM:138790
Acropectoral Syndrome	Abnormal thorax morphology, Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Joubert Syndrome 9	Hepatic fibrosis, Encephalocele, Molar tooth sign on MRI, Ventriculomegaly, Episodic tachypnea, S...	OMIM:612285
Al-Raqad Syndrome	Deeply set eye, Joint laxity, Atrial septal defect, Short nose, Thin upper lip vermilion, Narrow ...	OMIM:616459
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Hip dysplasia, Anal atresia, Hypertelorism, Microphthalmia, Abnormal lo...	ORPHA:195
14Q22Q23 Microdeletion Syndrome	Short 4th metacarpal, Ventriculomegaly, Toe syndactyly, Micrognathia, Cupped ear, Short palm, Hea...	ORPHA:264200
Hardikar Syndrome	Hypoplasia of the bladder, Cleft soft palate, Elevated hepatic transaminase, Portal inflammation,...	OMIM:301068
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Genu valgum, Molar tooth sign on MRI, Clinodactyly, Spindle-shaped finger, Hypertelorism, Triangu...	ORPHA:166024
Aicardi-Goutieres Syndrome 9	Optic atrophy, Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Pericardi...	OMIM:619487
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip subluxation, Subvalvular aortic stenosis, Flexion contracture, Tapered finger, Ischemic strok...	OMIM:619503
3P25.3 Microdeletion Syndrome	Tapered finger, 2-3 finger syndactyly, Micrognathia, Overlapping toe, Broad hallux, Cleft palate,...	ORPHA:435638
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Patent foramen ovale, Rieger anomaly, High palate, Small hand, Ventricular septal d...	OMIM:270450
17Q12 Microduplication Syndrome	Polyhydramnios, Deeply set eye, Finger syndactyly, Toe syndactyly, Atrial septal defect, Tracheoe...	ORPHA:261272
Autosomal Recessive Polycystic Kidney Disease	Micrognathia, Fat malabsorption, Cholangiocarcinoma, Pulmonary hypoplasia, Hepatoblastoma, Hepato...	ORPHA:731
Lambotte Syndrome	Retrognathia, Macrotia, Ventricular septal defect, Preaxial foot polydactyly, Semilobar holoprose...	OMIM:245552
Donnai-Barrow Syndrome	Sensorineural hearing impairment, Wide anterior fontanel, Ventricular septal defect, Congenital d...	ORPHA:2143
Disorder Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Deeply set eye, Microtia, Hypoplasia of penis, Short philtrum, Short nose, Spina bif...	ORPHA:2983
Recombinant Chromosome 8 Syndrome	Micrognathia, Camptodactyly, Gingival overgrowth, Hearing impairment, Posteriorly rotated ears, D...	OMIM:179613
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Dental malocclusion, 2-3 toe syndactyly, High pa...	OMIM:606232
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Cleft upper lip, Broad proximal phalanges of the hand, Optic nerve hypop...	OMIM:607597
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Ambiguous genitalia, Bifid tongue, Ventriculomegaly, Ectopic anus, Micrognathia, Urethrovaginal f...	ORPHA:93271
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Partial atrioventricular canal defect, Polysplenia, Chronic sinusitis, Intestinal malrotation, Si...	OMIM:619608
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Ventricular septal defect, Wide nasal bridge, Recurrent otitis media, Long nose, Bra...	OMIM:619995
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Bifid uvula, Smooth philtrum, Arthrogryposis multiplex congenita, Posteriorly rotated ears, Rocke...	OMIM:618622
Joubert Syndrome 2	Brainstem dysplasia, Central apnea, Postaxial hand polydactyly, Nephronophthisis, Enlarged fossa ...	OMIM:608091
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Clinodactyly of the 5th finger, Pulmonary hypoplasia, Congenital diaphragmatic he...	OMIM:601163
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Hepatic failure, Ventriculomegaly, Polycystic kidney dysplasia, Cys...	ORPHA:228308
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Glue ear, Retrognathia, Hepatic failure, Wide mouth, Secundum atrial septal defect, Clinodactyly ...	OMIM:619758
Moebius Syndrome	Short phalanx of finger, Micrognathia, Bifid uvula, Camptodactyly, Facial diplegia, Radial deviat...	OMIM:157900
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	2-3 toe syndactyly, Lobulated tongue, Deeply set eye, Clinodactyly of the 5th finger, Short philt...	OMIM:613443
Denys-Drash Syndrome	Nephroblastoma, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Wide ante...	OMIM:194080
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Ventr...	OMIM:614576
Neu-Laxova Syndrome	Flexion contracture, Ventriculomegaly, Abnormality of neuronal migration, Micrognathia, Bifid uvu...	ORPHA:2671
Infantile Sialic Acid Storage Disease	Metaphyseal irregularity, High palate, Nephrotic syndrome, Abnormal thorax morphology, Hydrocepha...	OMIM:269920
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Hematuria, Microphthalmia, Cleft palate, Hearing impairment	OMIM:120433
Campomelia, Cumming Type	Pancreatic cysts, Aplasia/Hypoplasia affecting the eye, Multicystic kidney dysplasia, Abnormality...	ORPHA:1318
Helsmoortel-Van Der Aa Syndrome	Polydactyly, Tapered finger, Wide nasal bridge, Microdontia, Broad hallux, Everted lower lip verm...	OMIM:615873
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, High palate, Deeply set eye, Clinodactyly, Protruding ea...	ORPHA:85279
Congenital Disorder Of Glycosylation, Type Ia	Flexion contracture, Pericardial effusion, Elevated hepatic transaminase, Nonimmune hydrops fetal...	OMIM:212065
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia, Micrognathia, Hypoplasia of penis, Hyp...	ORPHA:1046
Treacher-Collins Syndrome	Conductive hearing impairment, Hypoplasia of the thymus, Wide nasal bridge, Micrognathia, Tooth a...	ORPHA:861
Meier-Gorlin Syndrome 7	2-3 toe syndactyly, 2-4 finger syndactyly, Urethral stricture, Pulmonary hypoplasia, Breast aplas...	OMIM:617063
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Pulmonary hypoplasia, Hypertrophic cardiomyopathy, Cardiomegaly, Neonatal death...	OMIM:614096
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Tympanosclerosis, Asplenia, Enamel hypoplasia, Atrophic gastritis, Chronic active hepatitis, Mala...	OMIM:240300
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormality of the elbow, Deep philtrum, Thick lower lip vermilion, Hydrocephalus, Pectus excavat...	ORPHA:2701
Omodysplasia 2	Wide nasal bridge, Micrognathia, Dislocated radial head, Hypoplastic distal humeri, Limited elbow...	OMIM:164745
Cdkl5-Deficiency Disorder	Deeply set eye, Hallux valgus, Deep philtrum, Broad proximal phalanges of the hand, Everted lower...	ORPHA:505652
Nephronophthisis 9	Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Microphthalmia, Syndromic 8	Cleft upper lip, Mandibular prognathia, Split foot, Microphthalmia, Widely-spaced maxillary centr...	OMIM:601349
Lowry-Maclean Syndrome	Atrioventricular canal defect, Abnormality of the abdominal organs, Micrognathia, Cleft palate, T...	ORPHA:2409
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Bladder trabeculation, Micrognathia, Pulmonary hypoplasia, Large fleshy ears, Cl...	OMIM:614080
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Patent foramen ovale, 2-3 toe syndactyly, Mandibular prognathia, Lateral ventricle ...	OMIM:618914
Intellectual Developmental Disorder, X-Linked 30	Thick upper lip vermilion, Macrotia, High palate, Deeply set eye, Hydrocephalus, Short nose, Thin...	OMIM:300558
Hydrolethalus Syndrome 2	Ventriculomegaly, Molar tooth sign on MRI, Micrognathia, Anencephaly, Hydrocephalus, Preaxial foo...	OMIM:614120
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	High palate, Long philtrum, Deeply set eye, Micrognathia, Joint hypermobility, Thin upper lip ver...	ORPHA:480907
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Respiratory insufficiency, Atrioventricular canal defect, Ventriculomegaly, Aplasia/Hypoplasia of...	ORPHA:1120
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Metatarsus valgus, Mandibular prognathia, Toe syndactyly, Micrognathia, Aplasia/Hypoplasia of toe...	ORPHA:3082
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Optic atrophy, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Bone marrow ...	ORPHA:505248
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Patent ductus arteriosus, Anemia, High palate, Megaloblastic anemia, Cystathioninuria, Microtia, ...	OMIM:277380
1Q41Q42 Microdeletion Syndrome	Deeply set eye, Hypotelorism, Submucous cleft hard palate, Pulmonary hypoplasia, Congenital diaph...	ORPHA:250999
Xq27.3Q28 Duplication Syndrome	Thin vermilion border, Short foot, Deeply set eye, Small hand	ORPHA:261483
Achondroplasia	Conductive hearing impairment, Pulmonary hypoplasia, Brain stem compression, Short femur, Limited...	OMIM:100800
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Multicystic kidney dysplasia, Preaxial foot polydactyly, Multinodular goiter...	ORPHA:2091
Zaki Syndrome	Patent ductus arteriosus, Hydronephrosis, Patent foramen ovale, High palate, Wide mouth, Wide nas...	OMIM:619648
Nager Syndrome	Triphalangeal thumb, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Wide mouth, Microtia...	ORPHA:245
Wieacker-Wolff Syndrome, Female-Restricted	Urinary incontinence, Radial deviation of the hand, Polyhydramnios, Hip contracture, Long philtru...	OMIM:301041
Campomelic Dysplasia	Irregular dentition, Short phalanx of finger, Spinal dysraphism, Thoracic hypoplasia, Hallux valg...	OMIM:114290
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Ventriculomegaly, Micrognathia, Pulmonary hypoplasia, Hepatosplenome...	OMIM:608013
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Distal 22Q11.2 Microdeletion Syndrome	Camptodactyly of finger, Coxa valga, Truncus arteriosus, Toe syndactyly, Smooth philtrum, Cleft p...	ORPHA:261330
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Ascites, Polycystic liver disease	OMIM:174050
Fanconi Anemia	Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Aplasia/Hypoplasia of the...	ORPHA:84
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Deep philtrum, Wide nasal bridge, Micrognathia, Cervical ribs, Incomplete cleft of the upper lip,...	ORPHA:77300
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Abnormality of the elbow, High palate, Long philtrum, Abnormal bone ossification, Inc...	ORPHA:163649
Gómez-López-Hernández Syndrome	Abnormal cerebellum morphology, Abnormal brainstem morphology, Hydrocephalus, Hypertelorism, Thin...	ORPHA:1532
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Adducted thumb, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:2182
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	2-3 toe syndactyly, Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Wide nas...	ORPHA:508498
Vater/Vacterl Association	Renal dysplasia, Patent urachus, Abnormal rib morphology, Vesicoureteral reflux, Ventricular sept...	OMIM:192350
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, 2-3 toe syndactyly, Conical tooth, Conductive hearing impairment, Cleft...	OMIM:106260
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Wide nasal bridge, Short philtrum, Downturned corners of mouth, Hypertelorism, S...	OMIM:613192
Lethal Congenital Contracture Syndrome Type 1	Abnormality of the elbow, Micrognathia, Slender long bone, Pulmonary hypoplasia, Abnormal rib mor...	ORPHA:1486
Cerebrocostomandibular Syndrome	Polyhydramnios, Conductive hearing impairment, Cleft soft palate, Micrognathia, Elbow flexion con...	OMIM:117650
Koolen-De Vries Syndrome	Hip dislocation, Everted lower lip vermilion, Anteverted ears, Slender finger, Cleft palate, Aort...	OMIM:610443
Mosaic Variegated Aneuploidy Syndrome	Subvalvular aortic stenosis, Nephroblastoma, Aplasia/Hypoplasia of the cerebellum, Multicystic ki...	ORPHA:1052
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Short philtrum, Large earlobe, Everted lower lip vermilion, Prominent ear helix, Ab...	ORPHA:411986
Basel-Vanagaite-Smirin-Yosef Syndrome	2-3 toe syndactyly, Dilated third ventricle, Lateral ventricle dilatation, Broad distal phalanx o...	ORPHA:464738
Ritscher-Schinzel Syndrome 4	Macrotia, Tapered finger, Narrow palate, High palate, Wide mouth, Wide nasal bridge, Hip dysplasi...	OMIM:619435
Pseudodiastrophic Dysplasia	Rhizomelia, Elbow dislocation, Phalangeal dislocation, Malar flattening, Omphalocele, Talipes equ...	ORPHA:85174
Kbg Syndrome	Long philtrum, Thoracic kyphosis, Oligodontia, Ulnar deviation of the 2nd finger, Clinodactyly of...	OMIM:148050
Achondrogenesis, Type Ia	Pulmonary hypoplasia, Talipes equinovarus, Beaded ribs, Hypoplastic sacrum, Short thorax, Short r...	OMIM:200600
Blepharocheilodontic Syndrome 1	Conical tooth, Cleft upper lip, Neural tube defect, Hypodontia, Clinodactyly, Anal atresia, Hyper...	OMIM:119580
Heterotaxy, Visceral, 6, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Transposition of the gre...	OMIM:614779
Trisomy 20P	Camptodactyly of finger, Abnormal antihelix morphology, Ectopic anus, Abnormal autonomic nervous ...	ORPHA:261318
3Mc Syndrome 3	Cleft upper lip, Auricular pit, Clinodactyly, Radioulnar synostosis, Hearing impairment, Penoscro...	OMIM:248340
Juvenile Idiopathic Arthritis	Pericardial effusion, Malabsorption, Arthritis, Abnormal sacroiliac joint morphology, Hepatomegal...	ORPHA:92
Joubert Syndrome 7	Neonatal breathing dysregulation, Genu valgum, Hypoplasia of the brainstem, Encephalocele, Molar ...	OMIM:611560
Aarskog-Scott Syndrome	Short 5th finger, Wide nasal bridge, Radial deviation of finger, Curved linear dimple below the l...	OMIM:305400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, Multiple joint contractures, Hallux valgus, Micrognathia, Microdontia,...	ORPHA:536467
Zechi-Ceide Syndrome	Cleft upper lip, Wide nasal bridge, Oligodontia, Short distal phalanx of finger, Sandal gap, Shor...	OMIM:612916
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Spina bifida occulta, Preaxial polydactyly	ORPHA:64754
Joubert Syndrome 16	Polydactyly, Encephalocele, Molar tooth sign on MRI, Renal cyst, Hypertelorism, Nephronophthisis,...	OMIM:614465
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Cervical ribs, Situs inversus totalis, Dextrocardia, ...	ORPHA:66630
Richieri-Costa/Guion-Almeida Syndrome	Cleft upper lip, Mandibular prognathia, Palmoplantar cutis laxa, Deeply set eye, Spina bifida occ...	OMIM:268850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Renal dysplasia, Micrognathia, Meningoencephalocele, Optic nerve hypoplasia, Bu...	OMIM:236670
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Pierre-Robin sequence, Everted upper lip vermilion, Wide mouth, Deep philtrum, Deeply set eye, Hi...	OMIM:618381
Bullous Dystrophy, Hereditary Macular Type	Short finger, Death in childhood, Tapered finger, Acrocyanosis	OMIM:302000
Vissers-Bodmer Syndrome	Holoprosencephaly, Tapered finger	OMIM:619033
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati...	OMIM:610199
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Abnormal antihelix morphology, 2-3 toe syndactyly, Short toe, Flexion contracture of digit, Patel...	ORPHA:3041
Microcephaly-Capillary Malformation Syndrome	Vesicoureteral reflux, Patent foramen ovale, Low-set ears, Optic atrophy, Ventricular septal defe...	OMIM:614261
Orofaciodigital Syndrome Type 10	Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Hypoplasia of proximal radiu...	ORPHA:2756
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Hypertelorism, Cleft palate	OMIM:300484
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Aganglionic megacolon, Transvers...	OMIM:236700
Laurence-Moon Syndrome	Sensorineural hearing impairment, Finger syndactyly, Hand polydactyly, Hypoplasia of penis, Abnor...	ORPHA:2377
Nail-Patella Syndrome	Biceps aplasia, Triceps aplasia, Absent distal interphalangeal creases, Glomerulonephritis, Limit...	OMIM:161200
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	High palate, Deeply set eye, Wide mouth, Micrognathia, Short philtrum, Joint laxity, Optic nerve ...	ORPHA:363686
Microform Holoprosencephaly	Asthma, Hypotelorism, Renal agenesis, Hypoplasia of penis, Short philtrum, Solitary median maxill...	ORPHA:280200
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Hepatocellular carcinoma, Elevated hepati...	ORPHA:369
Ciliary Dyskinesia, Primary, 37	Right aortic arch, Situs inversus totalis, Hearing impairment, Dextrocardia	OMIM:617577
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hypoplastic iliac wing, Genu varum, Genu valgum, Metaphyseal irregularity, Coxa vara, Hypoplastic...	OMIM:613330
Transaldolase Deficiency	Patent ductus arteriosus, Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Telangiectasia, Wide...	OMIM:606003
Primary Hepatic Neuroendocrine Carcinoma	Intermittent jaundice, Chronic noninfectious lymphadenopathy, Neoplasm of the liver, Elevated hep...	ORPHA:100085
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	2-3 toe syndactyly, Morphological abnormality of the gastrointestinal tract, Ventricular septal d...	ORPHA:404440
Ellis-Van Creveld Syndrome	Horizontal ribs, Delayed eruption of teeth, Postaxial hand polydactyly, Talipes equinovarus, Hypo...	OMIM:225500
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Vesicoureteral reflux, Patellar hypoplasia, Sensorineural hearing impairment, Long ...	ORPHA:464288
Chromosome 17Q12 Duplication Syndrome	Deeply set eye, Cleft soft palate, Esophageal atresia, Micrognathia, Atrial septal defect, Broad ...	OMIM:614526
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short phalanx of finger, Wide nasal bridge, Aplasia/hypoplasia of the femur, Toe syndactyly, Flar...	OMIM:609945
12Q14 Microdeletion Syndrome	Deeply set eye, Hypodontia, Micrognathia, Clinodactyly of the 5th finger, Osteopoikilosis, Ectopi...	ORPHA:94063
Restrictive Dermopathy	Camptodactyly of finger, Polyhydramnios, Ascending tubular aorta aneurysm, Multiple joint contrac...	ORPHA:1662
Nabais Sa-De Vries Syndrome, Type 1	Vesicoureteral reflux, Deeply set eye, Thickened helices, Clinodactyly of the 5th finger, Optic n...	OMIM:618828
Pontocerebellar Hypoplasia, Type 15	Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Death in infancy, H...	OMIM:619302
Split-Hand/Foot Malformation 3	High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split han...	OMIM:246560
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Cleft maxillary alveolar rid...	ORPHA:508488
Kleefstra Syndrome	Delayed eruption of teeth, Tracheomalacia, Everted lower lip vermilion, Pulmonary artery stenosis...	ORPHA:261494
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Pulmonary hypoplasia, Lacticaciduria, Neonatal respiratory distr...	OMIM:619003
Stuve-Wiedemann Syndrome 1	Short tibia, Short phalanx of finger, Respiratory insufficiency, Micrognathia, Elbow flexion cont...	OMIM:601559
Distal Monosomy 15Q	Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Pulmonary hypopl...	ORPHA:1596
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Cerebellar vermis atrophy, Hepatic failure, Hepatic bridging fibrosis, Hepatome...	OMIM:616719
Galloway-Mowat Syndrome 3	High palate, Deeply set eye, Nephrotic syndrome, Stage 5 chronic kidney disease, Micrognathia, Ca...	OMIM:617729
Pettigrew Syndrome	Flexion contracture, Sensorineural hearing impairment, Deeply set eye, Wide mouth, Mandibular pro...	OMIM:304340
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy, Decreased CSF glycine concentration, Cerebellar vermis hypopl...	OMIM:610992
Beckwith-Wiedemann Syndrome	Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Renal cortical cysts, Pancreatic hyperplas...	OMIM:130650
Mulibrey Nanism	Nephroblastoma, Enamel hypoplasia, Dental malocclusion, Pericardial constriction, Hypoplastic fro...	OMIM:253250
Ciliary Dyskinesia, Primary, 17	Chronic sinusitis, Recurrent otitis media, Situs inversus totalis, Dextrocardia, Ciliary dyskines...	OMIM:614679
Distal Trisomy 15Q	Camptodactyly of finger, High palate, Long philtrum, Micrognathia, Downturned corners of mouth, A...	ORPHA:1707
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Steinfeld Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Unilateral renal d...	OMIM:184705
Perching Syndrome	Cyanosis, High palate, Camptodactyly, Respiratory distress, Joint contracture	OMIM:617055
Radio-Tartaglia Syndrome	Conductive hearing impairment, Tapered finger, Wide nasal bridge, Micrognathia, Dysphagia, Hearin...	OMIM:619312
Ciliary Dyskinesia, Primary, 38	Conductive hearing impairment, Immotile cilia, Absent inner and outer dynein arms, Chronic sinusi...	OMIM:618063
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Basel-Vanagaite-Smirin-Yosef Syndrome	2-3 toe syndactyly, Ventriculomegaly, Everted lower lip vermilion, Furrowed tongue, Uplifted earl...	OMIM:616449
Cofs Syndrome	Camptodactyly of finger, Sensorineural hearing impairment, Optic atrophy, Wide nasal bridge, Micr...	ORPHA:1466
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Cleft upper lip, Joint contracture of the hand, Camptodactyly, Limb undergrowth, Overlapping fing...	OMIM:601016
Viss Syndrome	Aortic tortuosity, Polyhydramnios, Ascending tubular aorta aneurysm, Bifid tongue, Cleft soft pal...	OMIM:619472
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia, Deeply set eye	ORPHA:3204
Opitz Gbbb Syndrome	Congenital posterior urethral valve, Smooth philtrum, Cleft palate, Posteriorly rotated ears, Ves...	OMIM:300000
Congenital Hydrocephalus	Sensorineural hearing impairment, Ventriculomegaly, Abnormal cortical gyration, Macular hypoplasi...	ORPHA:2185
Thoracoabdominal Syndrome	Patent ductus arteriosus, Cleft upper lip, Ventral hernia, Anencephaly, Renal agenesis, Ectopia c...	OMIM:313850
Diprosopus	Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, External ear malformation...	ORPHA:1681
Neonatal Hemochromatosis	Micrognathia, Prolonged neonatal jaundice, Abnormal localization of kidney, Congenital hepatic fi...	ORPHA:446
Phaver Syndrome	Camptodactyly of finger, Triphalangeal thumb, Conductive hearing impairment, Myelomeningocele, Ve...	ORPHA:2876
Ring Chromosome 10 Syndrome	Abnormal antihelix morphology, Tapered finger, Long philtrum, Wide nasal bridge, Renal hypoplasia...	ORPHA:1438
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Cubitus valgus, Deeply set eye, Short philtrum	OMIM:300471
Oligomeganephronia	Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr...	ORPHA:2260
Edinburgh Malformation Syndrome	Respiratory insufficiency, Aplasia/Hypoplasia affecting the eye, Abnormality of neuronal migratio...	ORPHA:1895
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Recurrent pancreatitis, Nephroblastoma, Parathyroid adenoma, Papillary...	OMIM:145001
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Long philtrum, Ventriculomegaly, Ulnar deviation of the wrist, Micrognathia, Agenesis of corpus c...	OMIM:618577
Lissencephaly Syndrome, Norman-Roberts Type	Patent foramen ovale, Wide nasal bridge, Atrial septal defect, Microretrognathia, Adducted thumb,...	ORPHA:89844
Mosaic Variegated Aneuploidy Syndrome 3	Nephroblastoma, Deeply set eye, Horseshoe kidney, Low-set ears, Arthrogryposis multiplex congenit...	OMIM:617598
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly, Tapered finger, Limited elbow extension	OMIM:300706
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Macrotia, High palate, Large hands, Furrowed tongue, Flexion contracture, Deeply ...	OMIM:300534
Teebi-Shaltout Syndrome	Hypoplastic helices, Wide nasal bridge, Camptodactyly, Metatarsus adductus, Smooth philtrum, Clef...	OMIM:272950
Galloway-Mowat Syndrome 5	Mandibular prognathia, Deeply set eye, Stage 5 chronic kidney disease, Large earlobe, Edema, Hype...	OMIM:617731
Hydrops Fetalis	Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the kidney, Abnormality of the g...	ORPHA:1041
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Aplasia of the vagina, Short ribs, Missing ribs, Absent external genitalia, Ana...	OMIM:271520
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Ssr4-Cdg	Patent ductus arteriosus, Gastroesophageal reflux, Abnormality of upper lip vermillion, Macrotia,...	ORPHA:370927
Adams-Oliver Syndrome 6	Hepatic fibrosis, Foot oligodactyly, Ventricular septal defect, Truncus arteriosus, Cutis marmora...	OMIM:616589
Congenital Sialidosis Type 2	Polydactyly, Cherry red spot of the macula, Optic atrophy, Abnormality of the kidney, Hydrocephal...	ORPHA:93400
Stickler Syndrome Type 1	Sensorineural hearing impairment, Long philtrum, Mitral valve prolapse, Short nose, Hypoplasia of...	ORPHA:90653
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Preaxial hand polydactyly, High palate, Wide anterior fontanel, Rhizomelia, ...	ORPHA:3098
Schisis Association	Encephalocele, Spina bifida, Anencephaly, Renal agenesis, Congenital diaphragmatic hernia, Microm...	ORPHA:63862
Congenital Toxoplasmosis	Anemia, Jaundice, Hydrocephalus, Elevated hepatic transaminase, Lymphadenopathy, Thrombocytopenia...	ORPHA:858
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Upper limb undergrowth, Thoracic hypoplasia, Pulmonary hypoplasia	OMIM:613124
Duane Retraction Syndrome	Wide nasal bridge, Micrognathia, Camptodactyly, Hypoplastic iris stroma, Spina bifida occulta, Ev...	ORPHA:233
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly	OMIM:618709
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Patent foramen ovale, Upper eyelid edema, High palate, Deeply set eye, ...	ORPHA:293939
20P13 Microdeletion Syndrome	Polydactyly, Hypoplastic helices, Finger syndactyly, Deeply set eye, Clinodactyly, Thin upper lip...	ORPHA:313781
Heart Defects, Congenital, And Other Congenital Anomalies	Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Cervical ribs, Pulmonary artery sten...	OMIM:600001
Xk Aprosencephaly Syndrome	Polyhydramnios, Ventricular septal defect, Abnormal morphology of the radius, Anal atresia, Atria...	ORPHA:3469
Pelger-Huet Anomaly	Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Ventricular sept...	OMIM:169400
Cleft Lip With Or Without Cleft Palate	Non-midline cleft lip, Chronic sinusitis, Recurrent otitis media, Median cleft lip and palate, Me...	ORPHA:1991
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Hepatic failure, Stage 5 chronic kidney disease, Polycystic kidney ...	ORPHA:157
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Micrognathia, Smooth philtrum, Furrowed tongue, Posteriorly rotated ears, Vesicour...	OMIM:616975
Lymphoid Interstitial Pneumonia	Respiratory tract infection, Abnormality of connective tissue, Subpleural interstitial thickening...	ORPHA:79128
Masa Syndrome	Ventriculomegaly, Hydrocephalus, Talipes equinovarus, Adducted thumb, Agenesis of corpus callosum	OMIM:303350
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Respiratory insufficiency, Multicystic kidney dysplasia, Ventriculomegaly, Clinodact...	ORPHA:2031
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Polyhydramnios, Coxa valga, Elevated hepatic transaminase, Optic nerve hypoplasia, Hepatomegaly, ...	OMIM:301056
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Bicornuate uterus, Micrognathia, Renal agenesis, Azoospermia, Unilateral renal a...	OMIM:601076
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Vitamin K Antagonist Embryofetopathy	Respiratory insufficiency, Aplasia/Hypoplasia affecting the eye, Myelomeningocele, Microtia, Hydr...	ORPHA:1914
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly, Median cleft palate	ORPHA:2432
Oculodentodigital Dysplasia	Conductive hearing impairment, Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocatio...	OMIM:164200
Diastrophic Dysplasia	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Abnormal metaphysis m...	ORPHA:628
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Cerebellar dysplasia, Encephalocele, Ventriculomegaly, Hypoplasia of the brainst...	OMIM:613150
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Deeply set eye, Small hand, Long philtrum, Micrognathia, Bifid uvula, Patchy osteosclerosis, Thin...	OMIM:241410
Monosomy 18Q	Bilateral conductive hearing impairment, Tapered finger, Secundum atrial septal defect, Left aort...	ORPHA:1600
Genitourinary And/Or Brain Malformation Syndrome	Urogenital sinus anomaly, Gray matter heterotopia, Long philtrum, Chiari malformation, Colpocepha...	OMIM:618820
Velocardiofacial Syndrome	Retrognathia, Pierre-Robin sequence, Ventricular septal defect, Abnormality of the ear, Interrupt...	OMIM:192430
Williams-Beuren Region Duplication Syndrome	Patent ductus arteriosus, High palate, Deeply set eye, Micrognathia, Hydrocephalus, Short philtru...	OMIM:609757
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Hypertelorism, Omphalocele	OMIM:614450
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Atresia of the external auditory canal, Conductive hearing impairment, High palate, Deeply set ey...	OMIM:602471
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Elevated circulating alanine aminotransferase concentration, Ventricular septal defect, Portal in...	OMIM:613759
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia, Recurrent otitis media	OMIM:618254
O'Donnell-Luria-Rodan Syndrome	Deeply set eye, Prolonged neonatal jaundice, Tapered finger	OMIM:618512
20P12.3 Microdeletion Syndrome	Long philtrum, Wide nasal bridge, Microtia, Atrial septal defect, Hypoplasia of the maxilla, Hype...	ORPHA:261295
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Gastroesophageal reflux, Genu valgum, Short 5th finger, Small hand, High palate, Long philtrum, D...	OMIM:618443
Fetal Akinesia Deformation Sequence 1	Camptodactyly of finger, Wrist flexion contracture, Thoracic hypoplasia, Ulnar deviation of the h...	OMIM:208150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Patent ductus arteriosus, Restrictive cardiomyopathy, High palate, Long philtrum, Deep philtrum, ...	OMIM:615398
Floating-Harbor Syndrome	Ivory epiphyses of the distal phalanges of the hand, Conductive hearing impairment, Short middle ...	OMIM:136140
Meacham Syndrome	Patent ductus arteriosus, Crossed fused renal ectopia, Conotruncal defect, Ventricular septal def...	ORPHA:3097
Severe Congenital Nemaline Myopathy	Abnormal thorax morphology, Pulmonary hypoplasia, Adducted thumb, Hypospadias, Micropenis, Thin ribs	ORPHA:171430
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short phalanx of finger, Polyhydramnios, T lymphocytopenia, Micrognathia, Elbow flexion contractu...	ORPHA:508533
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Micrognathia, Bifid uvula, Pulmonary hypoplasia, Abnormal oral frenulum ...	ORPHA:2753
Baraitser-Winter Syndrome 2	Retrognathia, Long philtrum, Wide mouth, Ventriculomegaly, Lissencephaly, Thin upper lip vermilio...	OMIM:614583
Hajdu-Cheney Syndrome	Abnormal mandible morphology, Wide nasal bridge, Micrognathia, Osteolysis, Thin vermilion border,...	ORPHA:955
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Polydactyly, Hepatic fibrosis, Chronic bronchitis, Stage 5 chronic ...	OMIM:616629
Brachydactyly, Type B1	Hypoplastic sacrum, Wide anterior fontanel, Ventricular septal defect, Short long bone, Cutaneous...	OMIM:113000
Acromelic Frontonasal Dysplasia	Meningocele, Aplasia/Hypoplasia of the tibia, Retrocerebellar cyst, Encephalocele, Patellar hypop...	ORPHA:1827
Ring Chromosome 7 Syndrome	Short 5th finger, Ventriculomegaly, Bifid uvula, Holoprosencephaly, Slender finger, Cleft palate,...	ORPHA:1449
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Long philtrum, Deep philtrum, Renal dysplasia, Wide nasal bridge, Microretrognathia, Short nose, ...	OMIM:618571
Sclerosing Cholangitis, Neonatal	Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau...	OMIM:617394
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia, Bilateral renal agenesis	OMIM:619887
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft upper lip, Finger joint hypermobility, Unilateral renal agenesis, Hearing impairment, Cleft...	OMIM:244200
Pediatric Systemic Lupus Erythematosus	Leukopenia, Oral ulcer, Nephrotic syndrome, Pericardial effusion, Abnormality of the gastrointest...	ORPHA:93552
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Deeply set eye, Wide mouth, Short philtrum, Short nose, Everted lower lip ...	ORPHA:2429
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Knee flexion contracture, Preaxial hand polydactyly, Long philtrum, Thin upper lip vermilion, Int...	OMIM:606242
Senior-Loken Syndrome	Stage 5 chronic kidney disease, Chronic kidney disease, Nephronophthisis, Cone-shaped epiphysis, ...	ORPHA:3156
Apert Syndrome	Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus, Bifid uvula, Postaxial hand pol...	OMIM:101200
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Knee flexion contracture, Cyanotic episode, Lateral ventricle dilatation, Simplified gyral patter...	ORPHA:284417
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Horizontal ribs, Atrioventricular canal defect, Polyhydramnios, Median cleft lip, Hepatomegaly, P...	OMIM:617088
Bresek Syndrome	Vesicoureteral reflux, Hypoplasia of the bladder, Low-set ears, Renal dysplasia, Hydrocephalus, O...	ORPHA:85284
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Aplasia/Hypoplasia of the fibula, Ventricular septal defect, Finger syndactyly, Short long bone, ...	ORPHA:2256
Heterotaxy, Visceral, 12, Autosomal	Patent foramen ovale, Double outlet right ventricle, Congenitally corrected transposition of the ...	OMIM:619702
Say Syndrome	Macrotia, Tapered finger, Micrognathia, Cystic renal dysplasia, Proximal renal tubular acidosis, ...	OMIM:181180
Joubert Syndrome 6	Dilated fourth ventricle, Hepatic fibrosis, Hypoplasia of the brainstem, Molar tooth sign on MRI,...	OMIM:610688
Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, Flexion contracture, Multiple joint contractures, Hallux valgus, Micro...	ORPHA:536471
Facial Clefting, Oblique, 1	Cleft palate, Deep palmar crease, Cleft upper lip, Microphthalmia	OMIM:600251
Yunis-Varon Syndrome	Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered...	ORPHA:3472
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow e...	ORPHA:93359
Kyphoscoliotic Ehlers-Danlos Syndrome	Antenatal intracerebral hemorrhage, Shoulder dislocation, Conductive hearing impairment, Microgna...	ORPHA:536545
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Congenital Muscular Dystrophy With Cerebellar Involvement	Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Hypoplas...	ORPHA:370959
Coenzyme Q10 Deficiency, Primary, 8	Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Pulmonary hypoplas...	OMIM:616733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Lissencephaly, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, G...	OMIM:614643
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormally large globe, Macrotia, Deeply set eye, Ventricular septal defect, Unilateral renal age...	OMIM:618504
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Ventriculomegaly, Death in infancy, Cerebellar hypoplasia, Cystic rena...	OMIM:613730
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft lip, Hypertelorism, Wide nasal bridge	ORPHA:2007
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Wide nasal bridge, Abnormality of ...	ORPHA:1794
Serkal Syndrome	Hypoplasia of the bladder, Ventricular septal defect, Malrotation of small bowel, Sex reversal, R...	ORPHA:139466
Galloway-Mowat Syndrome	Camptodactyly of finger, Macrotia, Aqueductal stenosis, Abnormality of neuronal migration, Nephro...	ORPHA:2065
Fraser Syndrome	Conductive hearing impairment, Bifid tongue, Ectopic anus, Wide nasal bridge, Toe syndactyly, Oro...	ORPHA:2052
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Alpha-aminoadipic aciduria, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, H...	OMIM:620089
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Patent ductus arteriosus, Abnormality of female external genitalia, Finger syndactyly, Renal hypo...	ORPHA:1112
Loeys-Dietz Syndrome 4	Aortic tortuosity, Protrusio acetabuli, Aortic root aneurysm, Ascending tubular aorta aneurysm, H...	OMIM:614816
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Camp...	ORPHA:95699
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Gingivitis, Periodontitis, Hydrocephalus, Hearing impairment, Abnormality of the dentition	ORPHA:1008
Martsolf Syndrome 1	Short phalanx of finger, Ventriculomegaly, Finger joint hypermobility, Micrognathia, Tracheomalac...	OMIM:212720
Chromosome 22Q11.2 Deletion Syndrome, Distal	Deeply set eye, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate, Mala...	OMIM:611867
Ciliary Dyskinesia, Primary, 30	Respiratory insufficiency, Chronic bronchitis, Ventricular septal defect, Bronchiectasis, Decreas...	OMIM:616037
Intellectual Developmental Disorder, Autosomal Dominant 36	Ventriculomegaly, Hip dysplasia, Agenesis of corpus callosum, Hydrocephalus, Unilateral renal age...	OMIM:616362
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hypoplastic iliac wing, Rhizomelia, Wide mouth, Death in infancy, Cerebellar hypoplasia, Microgna...	ORPHA:163966
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Advanced ossification of carpal bones, Joint contracture of the hand, Short ribs, ...	OMIM:224400
Multiple Pterygium Syndrome, Lethal Type	Micrognathia, Short finger, Pulmonary hypoplasia, Cleft palate, Hypoplastic heart, Thin ribs	OMIM:253290
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	3-Methylglutaconic aciduria, Mandibular prognathia, Deeply set eye, Optic atrophy, Hip dysplasia,...	ORPHA:496790
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Camptodactyly, Hearing impairment, Patent foramen ovale, Ventricular septal de...	ORPHA:369891
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Renal angiomyolipoma, Cardiac rhabdomyoma, Stage 5 chronic kidney...	ORPHA:805
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Patent ductus arteriosus, Sensorineural hearing impairment, Ventricular septal defe...	OMIM:612938
Juberg-Hayward Syndrome	Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A...	ORPHA:2319
Lethal Congenital Contracture Syndrome 11	Retrognathia, Pulmonary hypoplasia	OMIM:617194
Branchiooculofacial Syndrome	Conductive hearing impairment, Micrognathia, Elbow flexion contracture, Cleft of chin, Cleft pala...	OMIM:113620
Meckel Syndrome, Type 9	Ambiguous genitalia, Multicystic kidney dysplasia, Limb undergrowth, Occipital encephalocele, Tal...	OMIM:614209
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Long philtrum, Wide anterior fontanel, Humeroradial synostosis, Hydrocephalus, Narrow pelvis bone...	OMIM:207410
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Abnormal antihelix morphology, Tapered finger, Toe syndactyly, Micrognat...	ORPHA:261337
Fibrochondrogenesis	Camptodactyly of finger, Respiratory insufficiency, Wide anterior fontanel, Abnormal metaphysis m...	ORPHA:2021
Retinitis Pigmentosa 89	Hepatic fibrosis, Bicuspid aortic valve, Intrahepatic bile duct dilatation, Hepatosplenomegaly, M...	OMIM:618955
Harel-Yoon Syndrome	Mandibular prognathia, Deeply set eye, Optic atrophy, Hip dysplasia, Micrognathia, Short nose, Hy...	OMIM:617183
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Retrognathia, Dilated third ventricle, Tapered finger, Tapered toe, Lateral ventricle dilatation,...	ORPHA:544488
Trisomy 8P	Abnormal atrioventricular connection, Conductive hearing impairment, Multiple joint contractures,...	ORPHA:264450
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Hand clenching, Polyhydramnios, Gastroesophageal reflux, Ventricular sep...	OMIM:616920
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia, Bilateral renal agenesis	OMIM:615721
Branchio-Oculo-Facial Syndrome	Non-midline cleft lip, Conductive hearing impairment, Preaxial hand polydactyly, Multicystic kidn...	ORPHA:1297
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cutaneous finger syndactyly, Cutaneous syndactyly o...	OMIM:225060
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Abnormally large globe, Ventricular septal defect, Vascular ring, Hydro...	OMIM:603387
Congenital Rubella Syndrome	Patent ductus arteriosus, Anemia, Sensorineural hearing impairment, Ventricular septal defect, Ap...	ORPHA:290
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Rib fusion	OMIM:608681
Fg Syndrome Type 1	Ventriculomegaly, Micrognathia, Optic nerve hypoplasia, Cupped ear, Abnormal cerebellum morpholog...	ORPHA:93932
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Sensorineural hearing impairment, Short femoral neck, Slender long bones with narrow...	OMIM:608154
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, High palate, Microdontia, Abnormal morphology of ulna, Abnormal ...	ORPHA:1307
Basilicata-Akhtar Syndrome	Retrognathia, Gastroesophageal reflux, Deeply set eye, Short foot, Camptodactyly, Adducted thumb,...	OMIM:301032
20Q13.33 Microdeletion Syndrome	Tapered finger, Hallux valgus, Prominent crus of helix, Dilation of Virchow-Robin spaces, Short l...	ORPHA:261311
Thrombocytopenia-Absent Radius Syndrome	Coxa valga, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Cervical ribs, Pho...	ORPHA:3320
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Cervical ribs, Hypoplasia of right ventricle, Pulmonary artery steno...	ORPHA:2255
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopat...	OMIM:614702
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent thumb, Patent ductus arteriosus after birth at term, Ventriculomegaly, Lateral ventricle d...	ORPHA:500150
Bartsocas-Papas Syndrome 1	Short phalanx of finger, Absent thumb, Flexion contracture, Micrognathia, Limb undergrowth, Cleft...	OMIM:263650
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Camptodactyly of finger, Vesicoureteral reflux, 2-3 toe syndactyly, Everted upper lip vermilion, ...	OMIM:619951
Mucopolysaccharidosis, Type Iva	Chondroitin sulfate excretion in urine, Pointed proximal second through fifth metacarpals, Coxa v...	OMIM:253000
Preaxial Hallucal Polydactyly	Preaxial foot polydactyly, Preaxial hand polydactyly	OMIM:601759
Intellectual Developmental Disorder, Autosomal Dominant 23	Long philtrum, Wide nasal bridge, Micrognathia, Dental crowding, Thin upper lip vermilion, Hyposp...	OMIM:615761
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Wide nasal bridge, Optic nerve hypoplasia, Short distal phalanx of the thumb, Decreased proportio...	ORPHA:221139
Arnold-Chiari Malformation Type Ii	Meningocele, Cyanosis, Myelomeningocele, Ventriculomegaly, Aqueductal stenosis, Neurogenic bladde...	ORPHA:1136
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Hepatic fibrosis, Cerebellar vermis atrophy, Hepatosplenomegaly, Acute hepatic failure, Talipes e...	ORPHA:466794
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion, Abnormality of the peritoneum	ORPHA:48686
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Natal tooth, Small hand, Long philtrum, Micrognathia, Pulmonary hypopl...	OMIM:145420
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology...	ORPHA:1354
Osteogenesis Imperfecta	Noncommunicating hydrocephalus, Thoracic hypoplasia, Ventriculomegaly, Delayed eruption of teeth,...	ORPHA:666
Edinburgh Malformation Syndrome	U-Shaped upper lip vermilion, Jaundice, Hydrocephalus, Death in infancy	OMIM:129850
Meier-Gorlin Syndrome 1	Coxa valga, Micrognathia, Microdontia, Camptodactyly, Hypoplastic labia majora, Elbow dislocation...	OMIM:224690
Verloove Vanhorick-Brubakk Syndrome	Non-midline cleft lip, Finger syndactyly, Microtia, Micrognathia, Abnormal metacarpal morphology,...	ORPHA:3429
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Dental malocclusion, Deeply set eye, Ventricular septal defect, Recurre...	OMIM:613680
Chromosome 1P36 Deletion Syndrome, Proximal	Patent foramen ovale, Ventricular septal defect, Coronary artery fistula, Bicuspid aortic valve, ...	OMIM:619343
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Absent thumb, Radial club hand, Respiratory failure, Aqueductal stenos...	OMIM:276950
Ciliary Dyskinesia, Primary, 2	Immotile cilia, Absent inner and outer dynein arms, Situs inversus totalis, Dextrocardia, Otitis ...	OMIM:606763
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia, Agenesis of corpus callosum	OMIM:166990
Microhydranencephaly, X-Linked	Holoprosencephaly, Multiple joint contractures	OMIM:306990
Mckusick-Kaufman Syndrome	Ectopic anus, Urethral stricture, Postaxial hand polydactyly, Cleft palate, Multicystic kidney dy...	ORPHA:2473
Matthew-Wood Syndrome	Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal spleen morpholo...	ORPHA:2470
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	High palate, Deeply set eye, Clinodactyly of the 5th finger, Oligohydramnios, Thin upper lip verm...	OMIM:618480
Alazami Syndrome	Deeply set eye, Wide mouth, Widely spaced teeth, Wide nasal bridge, Short philtrum, Low-set ears,...	OMIM:615071
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cleft upper lip, Macrotia, Finger syndactyly, Wide nasal bridge, Toe syndactyly, Bilateral cleft ...	ORPHA:3253
Truncus Arteriosus	Hypoplasia of the thymus, Truncus arteriosus, Aplasia/hypoplasia involving bones of the extremiti...	ORPHA:3384
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Recurrent aphthous stomatitis, Sensorineural hearing impairment, Long philtrum, Wide nasal bridge...	OMIM:615966
Solitary Median Maxillary Central Incisor	Cleft upper lip, Anophthalmia, Prominent median palatal raphe, Torus palatinus, Solitary median m...	OMIM:147250
Multicentric Carpotarsal Osteolysis Syndrome	Wrist swelling, Ulnar deviation of the hand or of fingers of the hand, Stage 5 chronic kidney dis...	OMIM:166300
Cockayne Syndrome Type 1	Enamel hypoplasia, Foot joint contracture, Abnormality of peripheral nerve conduction, Macrotia, ...	ORPHA:90321
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormal antihelix morphology, Preaxial hand polydactyly, Conductive hearing impairment, Microtia...	ORPHA:79113
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Retrognathia, Moyamoya phenomenon, Deeply set eye, Ischemic stroke, Cerebral hemorrhage, Long phi...	ORPHA:280679
Isolated Osteopoikilosis	Tarsal sclerosis, Abnormal long bone morphology, Abnormal bone ossification, Abnormality of the k...	ORPHA:166119
Pde4D Haploinsufficiency Syndrome	Short phalanx of finger, Micrognathia, Broad hallux, Hearing impairment, Posteriorly rotated ears...	ORPHA:439822
Slc35A2-Cdg	Camptodactyly of finger, Short tibia, Hip subluxation, Coxa valga, Lateral ventricle dilatation, ...	ORPHA:356961
Ciliary Dyskinesia, Primary, 7	Recurrent otitis media, Abnormal ciliary motility, Situs inversus totalis, Dextrocardia, Ciliary ...	OMIM:611884
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Macrotia, Deeply set eye, Hallux valgus, Anteverted ears	OMIM:615541
15Q Overgrowth Syndrome	Ureterovesical stenosis, Micrognathia, Bifid uvula, Overlapping toe, Contracture of the proximal ...	ORPHA:314585
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	2-3 toe syndactyly, Deeply set eye, Wide mouth, Broad hallux, Downturned corners of mouth, Hypert...	OMIM:300860
Pfeiffer Syndrome Type 3	Chiari malformation, Toe syndactyly, Tracheomalacia, Short hallux, Cleft palate, Hearing impairme...	ORPHA:93260
Megalencephaly	Genu valgum, Deeply set eye, Wide nasal bridge, Atrial septal defect, Long penis	ORPHA:2477
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, High palate, Semilobar holo...	ORPHA:556955
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Patent ductus arteriosus, Ventricular hypertrophy, Deeply set eye, Ventricular septal defect, Bic...	ORPHA:284169
Joubert Syndrome 39	Polycystic kidney dysplasia, Hypoplastic left heart, Joint contracture of the 5th finger, Occipit...	OMIM:619562
Sandestig-Stefanova Syndrome	Retrognathia, High palate, Wide nasal bridge, Perimembranous ventricular septal defect, Underdeve...	OMIM:618804
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, High palate, Long philtrum, Elevated urinary 3-hydroxybuty...	OMIM:614105
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Wide anterior fontanel, Short 1st metacarpal, Short first metatars...	OMIM:619135
Renal Hypodysplasia/Aplasia 1	Retrognathia, Bilateral renal agenesis, Renal dysplasia, Bicornuate uterus, Pulmonary hypoplasia,...	OMIM:191830
Beckwith-Wiedemann Syndrome	Chiari malformation, Hepatoblastoma, Hypertrophic cardiomyopathy, Hepatomegaly, Posterior helix p...	ORPHA:116
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Wide nasal bridge, Thyroid lymphangiectasia, Micrognathia, Alveolar ridge overgro...	OMIM:235255
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Hepat...	ORPHA:2414
Peters-Plus Syndrome	Ventriculomegaly, Short lingual frenulum, Micrognathia, Biliary tract abnormality, Microtia, seco...	OMIM:261540
Caroli Disease	Hepatic fibrosis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration,...	ORPHA:53035
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft lip, Tooth agenesis, Cleft palate	ORPHA:1074
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia, Polyhydramnios, Flexion contracture, Deeply set eye, Microtia	OMIM:612138
Asbestos Intoxication	Cyanosis, Clubbing of fingers, Myocardial fibrosis, Oxygen desaturation on exertion, Pleural thic...	ORPHA:2302
Cockayne Syndrome Type 2	Enamel hypoplasia, Macrotia, Flexion contracture, Anophthalmia, Delayed eruption of primary teeth...	ORPHA:90322
Chromosome Xq13 Duplication Syndrome	Mandibular prognathia, Deeply set eye, Finger joint hypermobility, Dilation of Virchow-Robin spac...	OMIM:301069
Microphthalmia With Brain And Digit Anomalies	High palate, Anophthalmia, Finger syndactyly, Sensorineural hearing impairment, Inferior cerebell...	ORPHA:139471
1Q44 Microdeletion Syndrome	Vesicoureteral reflux, High palate, Ventriculomegaly, Abnormal cardiac septum morphology, Microgn...	ORPHA:238769
Restrictive Dermopathy 1	Micrognathia, Pulmonary hypoplasia, Rocker bottom foot, Increased anterioposterior diameter of th...	OMIM:275210
Polycystic Kidney Disease 7	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,...	OMIM:620056
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Shoulder dislocation, Abnormally large globe, Spatulate thumbs, Hallux valgus, Micrognathia, Elbo...	OMIM:245600
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Cleft upper lip, Wide nasal bridge, Bifid uvula, Hypertelorism, Dysplastic pulmonary valve, Cleft...	OMIM:300958
Jacobsen Syndrome	Abnormality of the anus, Ectopic anus, Wide nasal bridge, Toe syndactyly, Hip dislocation, Bone m...	ORPHA:2308
Fetal Akinesia Deformation Sequence	Camptodactyly of finger, Respiratory insufficiency, Multiple joint contractures, Micrognathia, Pu...	ORPHA:994
Hartsfield Syndrome	Hypoplasia of the frontal bone, Cleft upper lip, Low-set ears, Agenesis of corpus callosum, Semil...	OMIM:615465
5Q14.3 Microdeletion Syndrome	Deeply set eye, Toe syndactyly, Short philtrum, Short nose, Optic nerve hypoplasia, Open mouth	ORPHA:228384
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Camptodactyly of finger, Mandibular prognathia, Anophthalmia, Long philtrum, Abnormality of the e...	ORPHA:1101
Poems Syndrome	Metaphyseal sclerosis, Pericardial effusion, Sclerosis of foot bone, Clubbing of fingers, Polycyt...	ORPHA:2905
Pfeiffer Syndrome Type 2	Chiari malformation, Toe syndactyly, Tracheomalacia, Short hallux, Cleft palate, Atresia of the e...	ORPHA:93259
Ciliary Dyskinesia, Primary, 22	Respiratory insufficiency due to defective ciliary clearance, Immotile cilia, Absent inner and ou...	OMIM:615444
15q26 overgrowth syndrome	Camptodactyly of finger, Vesicoureteral reflux, Mandibular prognathia, High palate, Long philtrum...	DECIPHER:81
Alagille Syndrome 1	Renal dysplasia, Hepatocellular carcinoma, Elevated hepatic transaminase, Peripheral pulmonary ar...	OMIM:118450
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Macrotia, Deeply set eye, Wide mouth, Thick lower lip vermilion, Osteopenia, High, narrow palate	OMIM:617268
Porphyria Cutanea Tarda, Type I	Fragile skin, Hepatic fibrosis, Porphyrinuria	OMIM:176090
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Focal polymicrogyria, Hypoplasia of the brainstem, Partial agenesis of ...	OMIM:615771
Dandy-Walker Malformation With Postaxial Polydactyly	Patent ductus arteriosus, Dilated fourth ventricle, Hydrocephalus, Microretrognathia, Partial abs...	OMIM:220220
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Pericardial effusion, Stomatitis, Pancytopenia, Autoimmune thrombocytopenia, ...	OMIM:613011
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Aplasia/Hypoplasia of the cerebellum, Respiratory insufficiency, Conductive hearing impairment, C...	ORPHA:93262
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Congenital finger flexion contractures, Macrotia, Deeply set eye, Bilateral talipes equinovarus, ...	ORPHA:1154
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Hydrocephalus, Cerebellar malformation, Type II lissencephaly, Microphthalmia, ...	ORPHA:324416
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Tapered finger, Molar tooth sign on MRI, Clinodactyly, Epiphyseal dyspl...	OMIM:607131
Khan-Khan-Katsanis Syndrome	Bilateral superior vena cava with no bridging vein, Micrognathia, Buphthalmos, Dysphagia, Vesicou...	OMIM:618460
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Chopra-Amiel-Gordon Syndrome	Pierre-Robin sequence, Deeply set eye, Short philtrum, Unilateral renal agenesis, Joint hypermobi...	OMIM:619504
Acro-Renal-Ocular Syndrome	Conductive hearing impairment, Toe syndactyly, Short distal phalanx of the thumb, Short hallux, O...	ORPHA:959
Craniotelencephalic Dysplasia	Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr...	ORPHA:1528
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Hypoplasia of the brainstem, Short metacarpal, Cerebellar hypoplasia, Epiphyseal stippling, Pulmo...	ORPHA:86822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar dysplasia, Flexion contracture, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy...	OMIM:613155
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Patent ductus arteriosus, 2-3 toe syndactyly, Double outlet right ventricle, Macrotia, High palat...	ORPHA:3304
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated...	OMIM:619658
Cleidocranial Dysplasia	Tapered finger, Delayed eruption of teeth, Micrognathia, Hypoplastic inferior ilia, Spina bifida ...	ORPHA:1452
Blepharonasofacial Malformation Syndrome	Non-midline cleft lip, Finger syndactyly, Optic atrophy, Long philtrum, Wide nasal bridge, Extern...	ORPHA:1252
Fanconi Anemia, Complementation Group D2	Aplasia of the 1st metacarpal, Absent thumb, Bone marrow hypocellularity, Thrombocytopenia, Heari...	OMIM:227646
Luo-Schoch-Yamamoto Syndrome	Deeply set eye, Small hand, Wide mouth, Short philtrum, Recurrent otitis media, Oligohydramnios, ...	OMIM:619460
Hemifacial Microsomia With Radial Defects	Triphalangeal thumb, Non-midline cleft lip, Conductive hearing impairment, Complete duplication o...	OMIM:141400
Arthrogryposis, Distal, Type 5	Absent phalangeal crease, Congenital finger flexion contractures, Decreased palmar creases, Dista...	OMIM:108145
Sanjad-Sakati Syndrome	Aplasia/Hypoplasia affecting the eye, Deeply set eye, Small hand, Long philtrum, Abnormality of t...	ORPHA:2323
Mosaic Trisomy 8	Camptodactyly of finger, Vesicoureteral reflux, Abnormal antihelix morphology, Macrotia, High pal...	ORPHA:96061
Lujan-Fryns Syndrome	Camptodactyly of finger, Arachnodactyly, High palate, Micrognathia, Dental crowding, Short philtr...	ORPHA:776
Cutis Laxa, Autosomal Recessive, Type Iib	Gastroesophageal reflux, High palate, Long philtrum, Deeply set eye, Hydrocephalus, Joint hypermo...	OMIM:612940
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Wrist flexion contracture, Flexion contracture, Diastasis recti, Camptodactyly, Mac...	ORPHA:254528
Short Syndrome	Dental malocclusion, Ovarian cyst, Rieger anomaly, Macrotia, Sensorineural hearing impairment, Wi...	OMIM:269880
Digeorge Syndrome	Hypoplasia of the thymus, Truncus arteriosus, Renal dysplasia, Micrognathia, Bifid uvula, Recurre...	OMIM:188400
Joubert Syndrome 5	Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc...	OMIM:610188
19P13.13 Microdeletion Syndrome	Macrotia, High palate, Deeply set eye, Optic atrophy, Functional abnormality of the gastrointesti...	ORPHA:357001
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Distal arthrogryposis, High palate, Ventriculomegaly, Deep philtrum, Coxa valga, Periventricular ...	OMIM:619833
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Short phalanx of finger, Abnormal dentate nucleus morpholog...	ORPHA:59315
Mucopolysaccharidosis, Type Iiid	Thickened ribs, Elbow flexion contracture, Hepatomegaly, Dysphagia, Hearing impairment, Splenomeg...	OMIM:252940
Temple Syndrome	Precocious puberty, High palate, Small hand, Decreased testicular size, Micrognathia, Hydrocephal...	OMIM:616222
Townes-Brocks Syndrome 1	2-3 toe syndactyly, Renal dysplasia, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Lop ear,...	OMIM:107480
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Polyhydramnios, Deeply set eye, Microdontia, Hydrocephalus, Hypoplasia of penis, Sh...	ORPHA:1812
Proboscis Lateralis	Abnormal paranasal sinus morphology, Ventriculomegaly, Optic nerve hypoplasia, Duplication of ren...	ORPHA:141099
Holoprosencephaly 13, X-Linked	Micrognathia, Optic nerve hypoplasia, Median cleft lip, Cyclopia, Cleft palate, Hearing impairmen...	OMIM:301043
Myhre Syndrome	Abnormal cardiac septum morphology, Large iliac wing, Abnormal lip morphology, Bifid uvula, Abnor...	ORPHA:2588
Fried Syndrome	Macrotia, High palate, Abnormal cerebellum morphology, Hydrocephalus, Short philtrum, Hearing imp...	ORPHA:85335
Temtamy Syndrome	Long philtrum, Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Hip dislocation, Lop ...	OMIM:218340
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Enamel hypoplasia, Genu valgum, Mandibular prognathia, High palate, Pierre-Robin sequence, Thorac...	OMIM:618363
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, High palate, Ventricular septal defect, Microtia, Cervical ribs, Low-set ears, C...	OMIM:609654
Developmental And Epileptic Encephalopathy 89	Flexion contracture, Long philtrum, Microretrognathia, Thin upper lip vermilion, Hypertelorism, L...	OMIM:619124
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Grade II vesicoureteral reflux, Microvesicular hepatic steatosis, Prolonged neo...	OMIM:619377
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Patent ductus arteriosus, Cleft upper lip, Macrotia, Hypoplastic helices, Ventricular septal defe...	OMIM:600460
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Micrognathia, Abnormal optic disc morphology, Tracheomalacia, Hearing imp...	ORPHA:96121
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Ventricular septal defect, Anotia, Microtia, Foot polydactyly, Micrognathia, Hyd...	ORPHA:268249
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hip dysplasia, Clinodactyly of the 5th fi...	ORPHA:3375
Abruzzo-Erickson Syndrome	Short toe, Conductive hearing impairment, Macrotia, Sensorineural hearing impairment, Toe syndact...	ORPHA:921
Galloway-Mowat Syndrome 7	Renal tubular atrophy, IgA deposition in the glomerulus, Hallux valgus, Micrognathia, Pectus exca...	OMIM:618348
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Glomerulopathy, Gingivitis, Delayed eruption of teeth, Micrognathia, Taurodontia, ...	ORPHA:534
Diamond-Blackfan Anemia 1	Absent thumb, Micrognathia, Cleft palate, Thrombocytopenia, Ventricular septal defect, Atrial sep...	OMIM:105650
Ethanolaminosis	Cardiomegaly, Death in infancy	OMIM:227150
Muscle-Eye-Brain Disease	Meningocele, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly	ORPHA:588
Orofaciodigital Syndrome Type 2	Short tibia, Broad first metatarsal, Atrioventricular canal defect, Conductive hearing impairment...	ORPHA:2751
Q Fever	Endocarditis, Anemia, Abnormality of the liver, Osteomyelitis, Pericardial effusion, Hepatitis, H...	ORPHA:781
Feingold Syndrome Type 1	2-3 toe syndactyly, Conductive hearing impairment, Renal dysplasia, Toe syndactyly, Short middle ...	ORPHA:391641
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Deeply set eye, Micrognathia, Hearing impairment, Microphthalmia, Microp...	OMIM:610756
Chromosome 16P13.3 Duplication Syndrome	Tapered finger, Wide nasal bridge, Microdontia, Micrognathia, Bifid uvula, Camptodactyly, Hip dis...	OMIM:613458
Choanal Atresia And Lymphedema	Pericardial effusion, High palate, Lymphedema	OMIM:613611
Achondrogenesis Type 1B	Short thorax, Long philtrum, Aplasia/Hypoplasia of the lungs, Micrognathia, Narrow chest, Talipes...	ORPHA:93298
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Narrow palate, Deeply set eye, Thick lower lip vermilion, Overlapping toe, Narrow mouth, Carious ...	ORPHA:457365
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Hepatic failure, Wide anterior fontanel,...	OMIM:614886
Developmental And Epileptic Encephalopathy 49	Thick upper lip vermilion, Macrotia, Ventriculomegaly, Hydrocephalus, Short philtrum, Open mouth,...	OMIM:617281
Intellectual Developmental Disorder, Autosomal Dominant 7	Macrotia, Deeply set eye, Hallux valgus, Thick lower lip vermilion, Micrognathia, Thin upper lip ...	OMIM:614104
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Wide nasal bridge, Delayed erupti...	OMIM:305620
Van Maldergem Syndrome 1	Irregular dentition, Conductive hearing impairment, Short 4th metacarpal, Wide nasal bridge, Micr...	OMIM:601390
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Gastroesophageal reflux, Lower-limb joint contracture, Increased axial length of the globe, Ventr...	ORPHA:513456
Tyrosinemia, Type I	Hepatocellular carcinoma, Elevated hepatic transaminase, Hypertrophic cardiomyopathy, Hypophospha...	OMIM:276700
3Q29 Microdeletion Syndrome	Subvalvular aortic stenosis, Patent ductus arteriosus, Gastroesophageal reflux, Macrotia, Tapered...	ORPHA:65286
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Intrahepatic biliary atresia, Enamel hypoplasia, Hepatic fibrosis, Hepatic failure, Hypodontia, S...	OMIM:607626
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cleft upper lip, Sensorineural hearing impairment, Clinodactyly, Tooth agenesis, Osteopenia, Ectr...	OMIM:147950
Trisomy 10P	Abnormal auditory evoked potentials, Abnormal lip morphology, Micrognathia, Camptodactyly, Dyspha...	ORPHA:171929
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Deeply set eye, Finger syndactyly, Optic atrophy, Wide mouth, Toe syndactyly, Foot polydactyly, A...	ORPHA:60040
Zellweger Syndrome	Hepatic failure, Multicystic kidney dysplasia, Sensorineural hearing impairment, Ventricular sept...	ORPHA:912
Joubert Syndrome With Renal Defect	Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Hand polydactyly, Cerebellar vermis hypopl...	ORPHA:220497
Fetal Alcohol Syndrome	Non-midline cleft lip, Microdontia, Micrognathia, Atrial septal defect, Short nose, Thin upper li...	ORPHA:1915
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Decreased liver function, Hepatic fibrosis, Ventricular septal defect	ORPHA:306550
Fetal Valproate Spectrum Disorder	Long philtrum, Downturned corners of mouth, Narrow mouth, Thin vermilion border, Omphalocele	ORPHA:1906
Aicardi-Goutieres Syndrome 4	Respiratory insufficiency, Ventriculomegaly, Hydrocephalus, Elevated hepatic transaminase, Hepato...	OMIM:610333
Degcags Syndrome	Polydactyly, Abnormal renal cortex morphology, Polyhydramnios, Toe syndactyly, Micrognathia, Trac...	OMIM:619488
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Deeply set eye, Macroglossia, Oligohydramnios, Broad finger, Tented upper lip vermilion, Broad to...	OMIM:616900
Achondroplasia	Rhizomelia, Wide anterior fontanel, Short long bone, Central sleep apnea, Hydrocephalus, Narrow g...	ORPHA:15
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Ventriculomegaly, Abnormal brainstem morphology, Episodic tachypnea, Micrognathia, ...	ORPHA:163961
Codas Syndrome	Short phalanx of finger, Atrioventricular canal defect, Conductive hearing impairment, Ventriculo...	OMIM:600373
Prader-Willi Syndrome Due To Translocation	Micrognathia, Bifid uvula, Overlapping toe, Everted lower lip vermilion, Alveolar ridge overgrowt...	ORPHA:177907
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Micrognathia, Dislocated radial head, Bilateral talipes equinovarus, Arthrogryposis multiplex con...	OMIM:619512
Shprintzen-Goldberg Craniosynostosis Syndrome	Micrognathia, Camptodactyly, Pectus excavatum, Metatarsus adductus, Dislocated radial head, Later...	OMIM:182212
Mucopolysaccharidosis, Type Vii	Flexion contracture, Chronic bronchitis, Metatarsus adductus, Airway obstruction, Hepatomegaly, N...	OMIM:253220
Larsen Syndrome	Conductive hearing impairment, Spatulate thumbs, Hip dislocation, Tracheomalacia, Elbow dislocati...	OMIM:150250
Desmosterolosis	Ventriculomegaly, Abnormality of neuronal migration, Micrognathia, Bifid uvula, Lissencephaly, Me...	ORPHA:35107
Blomstrand Lethal Chondrodysplasia	Short thorax, Aplastic clavicle, Long philtrum, Natal tooth, Short ribs, Broad clavicles, Microgn...	ORPHA:50945
Trigonocephaly 1	Long philtrum, Long penis, Omphalocele, High, narrow palate, Hypotelorism	OMIM:190440
Mosaic Variegated Aneuploidy Syndrome 2	Subvalvular aortic stenosis, Round ear, Ventricular septal defect, Deeply set eye, Micrognathia, ...	OMIM:614114
Limb Body Wall Complex	Wide nasal bridge, Broad hallux, Spina bifida occulta, Abnormal intestine morphology, Aplasia of ...	ORPHA:2369
Jackson-Weiss Syndrome	2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Mandibular prognathia, Toe...	ORPHA:1540
Chiari Malformation Type Ii	Cyanosis, Gray matter heterotopia, Myelomeningocele, Chiari malformation, Spina bifida, Hydroceph...	OMIM:207950
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Deeply set eye, Long philtrum, Short nose, Thick vermilion border	ORPHA:833
Christianson Syndrome	Gastroesophageal reflux, Macrotia, Deeply set eye, Mandibular prognathia, Adducted thumb, Joint h...	ORPHA:85278
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Wide nasal bridge, Renal dysplasia, Micrognathia, Abnormality of the ...	ORPHA:369837
Cohen Syndrome	Tapered finger, Optic atrophy, Micrognathia, Tooth agenesis, Gingival overgrowth, Genu valgum, Ve...	ORPHA:193
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Short thorax, Pulmonary hypoplasia	OMIM:601809
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Flexion contracture, Perisylvian polymicrogyria, Mu...	OMIM:618291
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly	OMIM:614480
Achondrogenesis Type 1A	Short thorax, Long philtrum, Short foot, Aplasia/Hypoplasia of the lungs, Micrognathia, Multiple ...	ORPHA:93299
Spondylocostal Dysostosis 1, Autosomal Recessive	Recurrent respiratory infections, Rib fusion	OMIM:277300
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Wide mouth, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Finge...	ORPHA:1647
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, High palate, Hydrocephalus, Sprengel anomaly, Sandal gap, Brachydactyly, A...	ORPHA:2180
Postaxial Acrofacial Dysostosis	Conical tooth, Midgut malrotation, Cleft upper lip, Conductive hearing impairment, Hypoplasia of ...	OMIM:263750
Cerebrofacioarticular Syndrome	Irregular dentition, Conductive hearing impairment, Wide nasal bridge, Micrognathia, Camptodactyl...	ORPHA:314679
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Ectopic anus, Renal hypoplasia/aplasia, Spina bifida, Anal atresia, Sp...	ORPHA:2345
Distal Monosomy 10Q	Tapered finger, Wide nasal bridge, Micrognathia, Hip dislocation, Morphological abnormality of th...	ORPHA:96148
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, High palate, Abnormal hand morphology, Limited elbow movement, Generalized joint la...	ORPHA:319171
Joubert Syndrome 21	Hypoplasia of the brainstem, Sensorineural hearing impairment, Anophthalmia, Elongated superior c...	OMIM:615636
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Otopalatodigital Syndrome Type 1	Wide nasal bridge, Hypoplastic frontal sinuses, Increased bone mineral density, Elbow dislocation...	ORPHA:90650
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Braddock-Carey Syndrome 2	Retrognathia, Pierre-Robin sequence, Wide mouth, Clinodactyly, Microphthalmia, Cleft palate, Thro...	OMIM:619981
Joubert Syndrome 3	Neonatal breathing dysregulation, Molar tooth sign on MRI, Lateral ventricle dilatation, Elongate...	OMIM:608629
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Flexion contracture, Tapered finger, Achalasia, Micrognathia, Hip dislocation, Delayed epiphyseal...	OMIM:616007
Mucopolysaccharidosis, Type Vi	Hypoplastic acetabulae, Delayed eruption of teeth, Flared iliac wing, Hepatomegaly, Pneumonia, Sp...	OMIM:253200
Constricting Bands, Congenital	Cleft upper lip, Encephalocele, Gastroschisis, Abnormal lung lobation, Ectopia cordis, Hand polyd...	OMIM:217100
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	High palate, Ketonuria, Oligohydramnios, Hypertrophic cardiomyopathy, Single transverse palmar cr...	OMIM:619053
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Patent ductus arteriosus, Double outlet right ventricle, Vertebral fusion, Bilateral renal agenes...	OMIM:618845
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Holoprosencephaly-Craniosynostosis Syndrome	Coxa valga, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Holoprosencephaly, Brac...	ORPHA:2163
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short 4th metacarpal, Mitral valve prolapse, Hydrocephalus, Azoospermia, Hypergonadotropic hypogo...	ORPHA:2183
Mucopolysaccharidosis, Type Ivb	Chondroitin sulfate excretion in urine, Pointed proximal second through fifth metacarpals, Coxa v...	OMIM:253010
Donohue Syndrome	Hepatic fibrosis, Macrotia, Ovarian cyst, Wide mouth, Thick lower lip vermilion, Adipose tissue l...	OMIM:246200
Hemifacial Atrophy, Progressive	Dental malocclusion, Horner syndrome, Deeply set eye, Delayed eruption of teeth, Microtia, Tongue...	OMIM:141300
Neurooculocardiogenitourinary Syndrome	Patent ductus arteriosus, Patent foramen ovale, Sensorineural hearing impairment, Ventricular sep...	OMIM:618652
Tibial Aplasia-Ectrodactyly Syndrome	Overfolded helix, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Patellar aplasia, F...	ORPHA:3329
Lissencephaly 8	Retrocerebellar cyst, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Agyri...	OMIM:617255
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Coxa valga, Ventriculomegaly, Sensorineural hearing impairment, Abnormal auditory...	OMIM:109120
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Deeply set eye, Long philtrum, Nephrotic syndrome, Hip dislocation, Joint laxity, Glomerular scle...	OMIM:619428
Hurler Syndrome	Flexion contracture, Coxa valga, Microdontia, Flared iliac wing, Hepatosplenomegaly, Hypoplasia o...	OMIM:607014
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Conductive hearing impairment, Sensorineural hearing impairment, Ventricular sep...	OMIM:214300
3Mc Syndrome 2	Cleft upper lip, High palate, Limited elbow movement, Wide nasal bridge, Caudal appendage, Hip di...	OMIM:265050
Acrodysostosis 1 With Or Without Hormone Resistance	Short phalanx of finger, Delayed eruption of teeth, Epiphyseal stippling, Hypoplastic vertebral b...	OMIM:101800
Harrod Syndrome	Dental malocclusion, Multicystic kidney dysplasia, High palate, Protruding ear, Long nose, Abnorm...	ORPHA:2115
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus	OMIM:209970
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipose tissu...	ORPHA:280356
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Type II lissencephaly, Microphthalmia	OMIM:614830
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Ventriculomegaly, Downturned corners of mouth, Brachydactyly, Abnormal rib mor...	ORPHA:2643
Mucopolysaccharidosis, Type Ii	Flexion contracture, Delayed eruption of teeth, Hepatosplenomegaly, Airway obstruction, Hepatomeg...	OMIM:309900
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Renal dysplasia, Anal atresia, Cervical ribs, Hypertrophy of the urina...	OMIM:601389
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal...	ORPHA:2790
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Van Maldergem Syndrome 2	Hip subluxation, Irregular dentition, Conductive hearing impairment, Short 4th metacarpal, Wide n...	OMIM:615546
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, S...	ORPHA:2237
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Gingival recession, Retrognathia, Vascular dilatation, Deeply set eye, Micrognathia, Camptodactyl...	OMIM:618343
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Stapes ankylosis, Conductive hearing impairment, Polyhydramnios, Pericar...	ORPHA:51608
Caroli Syndrome	Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Polycyst...	ORPHA:480520
Epilepsy, Pyridoxine-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Rhyns Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Short femoral neck, Deeply set e...	OMIM:602152
Borjeson-Forssman-Lehmann Syndrome	Short toe, Tapered finger, Deeply set eye, Camptodactyly of toe, Hypoplasia of penis, Large earlo...	ORPHA:127
Hemochromatosis, Type 2B	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyo...	OMIM:613313
Alazami Syndrome	Deeply set eye, Wide mouth, Widely spaced teeth, Slender long bone, Short philtrum, Atrial septal...	ORPHA:319671
Indomethacin Embryofetopathy	Multicystic kidney dysplasia, Hydrops fetalis, Ventricular septal defect, Abnormal renal tubule m...	ORPHA:1909
Congenital Disorder Of Glycosylation, Type Iid	Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, Dandy-Walker malfor...	OMIM:607091
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent ductus arteriosus, Patent foramen ovale, Flexion contracture, Respiratory failure, Abnorma...	OMIM:616867
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Short 5th metacarpal, Abnormal hand morphology, Bicuspid aortic valve, ...	ORPHA:228190
Peters Plus Syndrome	Polyhydramnios, Conductive hearing impairment, Optic atrophy, Abnormal cardiac septum morphology,...	ORPHA:709
Thrombocytopenia-Absent Radius Syndrome	Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Micrognathia, H...	OMIM:274000
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ambiguous genitalia, Ventricular septal defect, Ventriculomegaly, Hypoplasia of penis, Micromelia...	ORPHA:2772
Zechi-Ceide Syndrome	Conductive hearing impairment, Mandibular prognathia, Wide nasal bridge, Microtia, Oligodontia, S...	ORPHA:217017
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Complete atrioventricular canal defect, Primum atrial sept...	ORPHA:1329
Pitt-Hopkins Syndrome	Tapered finger, Wide nasal bridge, Overlapping toe, Cupped ear, Short palm, Clubbing, Gastroesoph...	OMIM:610954
Primary Intestinal Lymphangiectasia	Anemia, Increased stool alpha1-antitrypsin concentration, Reduced proportion of CD4+ effector mem...	ORPHA:90362
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, C...	OMIM:604381
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Non-midline cleft lip, High palate, Everted lower lip vermilion, Hypospa...	ORPHA:1784
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Conductive hearing impairment, Hypoplastic ischia, Short nose, Hypospadias, Hypertel...	OMIM:616910
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Diastrophic Dysplasia	Genu valgum, Hip contracture, Short long bone, Short finger, Ulnar deviation of finger, Irregular...	OMIM:222600
Cerebrocostomandibular Syndrome	Meningocele, Bell-shaped thorax, Multicystic kidney dysplasia, Myelomeningocele, Ventricular sept...	ORPHA:1393
Subaortic Stenosis-Short Stature Syndrome	Subvalvular aortic stenosis, Microdontia, Synostosis of carpal bones, Micrognathia, Biliary tract...	ORPHA:3191
Seckel Syndrome 5	Retrognathia, Enamel hypoplasia, 11 pairs of ribs, High palate, Selective tooth agenesis, Microgn...	OMIM:613823
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged ...	ORPHA:90301
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,...	OMIM:228930
Diencephalic Syndrome	Everted lower lip vermilion, Hydrocephalus, Large hands, Long penis	ORPHA:1672
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Tapered finger, Toe syndactyly, Micrognathia, Everted lower lip vermilio...	ORPHA:251014
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	High palate, Deeply set eye, Optic atrophy, Wide mouth, Slender long bone, Hydrocephalus, Short n...	OMIM:618590
Metatropic Dysplasia	Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Genu valgum, Metaphyseal irregulari...	OMIM:156530
Braddock Syndrome	Preaxial hand polydactyly, Micrognathia, Missing ribs, Unilateral renal agenesis, Pectus excavatu...	ORPHA:52047
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Pulmonary edema, Pericardial effusion, Enlarged kidney, Hydrocephalus, Macroglossia, Re...	OMIM:261740
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Micrognathia, Abnormality of dental morphology, Malar prominence, Pectus excavatum, Abnormality o...	ORPHA:2522
Bartsocas-Papas Syndrome	Absent thumb, Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Micrognathia, Synostos...	ORPHA:1234
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Smooth philtrum, Cupped ear, Hydrocephalus, Respiratory distress, A...	OMIM:612863
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Ventricular septal defect, Bilateral lung agenesis, Adrenal gland agen...	OMIM:611812
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	2-3 toe syndactyly, Short 5th finger, Cleft palate, Thrombocytopenia, Posteriorly rotated ears, R...	ORPHA:163979
Ctcf-Related Neurodevelopmental Disorder	2-3 toe syndactyly, Microdontia, Cleft palate, Cupped ear, Atrial septal defect, Short nose, Hype...	ORPHA:363611
Thauvin-Robinet-Faivre Syndrome	Nephroblastoma, Pedal edema, Macrotia, Bifid ureter, Sensorineural hearing impairment, Ventricula...	OMIM:617107
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fi...	OMIM:602347
Cardiospondylocarpofacial Syndrome	Vesicoureteral reflux, Patent foramen ovale, Pseudoepiphyses, Ventricular septal defect, Long phi...	OMIM:157800
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Vent...	OMIM:619525
Ohdo Syndrome, X-Linked	Wide nasal bridge, Microdontia, Micrognathia, Overlapping toe, Smooth philtrum, Hearing impairmen...	OMIM:300895
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Conductive hearing impairment, Renal dysplasia, Selective tooth agenesis, Microdontia, Toe syndac...	OMIM:129900
Cardiac Diverticulum	Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu...	ORPHA:1686
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Tapered finger, Deeply set eye, Clinodactyly of the 5th finger, Short nose, Thin upper lip vermil...	OMIM:618430
Stevenson-Carey Syndrome	Gastroesophageal reflux, Pierre-Robin sequence, Joint contracture of the hand, Recurrent urinary ...	OMIM:611961
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Joubert Syndrome 10	Deep philtrum, Wide nasal bridge, Low-set ears, Postaxial polydactyly, Thick vermilion border	OMIM:300804
Alagille Syndrome 2	Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Long nose, Renal cy...	OMIM:610205
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Macrotia, Deeply set eye, Wide nasal bridge, Micrognathia, Short philtrum, Oligohydramnios, Hyper...	ORPHA:261304
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Tapered finger, Wide nasal bridge, Renal dysplasia, Bifid uvula, Hip dislocation, Smooth philtrum...	OMIM:300968
Acrorenal Syndrome	Renal hypoplasia/aplasia, Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphol...	ORPHA:971
16P11.2P12.2 Microdeletion Syndrome	Camptodactyly of finger, Gastroesophageal reflux, Deeply set eye, Toe syndactyly, Hypotelorism, L...	ORPHA:261211
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Tapered finger, Camptodactyly, Broad hallux, Smooth philtrum, Cleft palate, Posteriorly rotated e...	OMIM:301044
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Vesicoureteral reflux, Absent thumb, Conductive hearing impairment, Ventric...	OMIM:609053
Craniotelencephalic Dysplasia	Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Microphthalmia, Fr...	OMIM:218670
Caudal Duplication	Myelomeningocele, Renal hypoplasia/aplasia, Spina bifida, Omphalocele, Ureteral duplication, Abno...	ORPHA:1756
Glycogen Storage Disease Ib	Oral ulcer, Neutropenia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated hepati...	OMIM:232220
Biliary Atresia, Extrahepatic	Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra...	OMIM:210500
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Bicornuate uterus, Renal dysplasia, Renal agenesis, Azoospermia, Ectopic kidney, Abnormal rib mor...	ORPHA:2578
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Gingivitis, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Hepatocellular adenoma, Ne...	ORPHA:79259
Postaxial Acrofacial Dysostosis	Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Finger syndactyly,...	ORPHA:246
Mucopolysaccharidosis Type 1	Microdontia, Everted lower lip vermilion, Hypertrophic cardiomyopathy, Abnormal metaphysis morpho...	ORPHA:579
Maternal Phenylketonuria	Bifid distal phalanx of the thumb, Double outlet right ventricle, Hypoplastic helices, Ventricula...	ORPHA:2209
Rajab Interstitial Lung Disease With Brain Calcifications 2	Deeply set eye, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Oligohydram...	OMIM:619013
De Barsy Syndrome	Delayed eruption of teeth, Small, conical teeth, Bilateral sensorineural hearing impairment, Prom...	ORPHA:2962
Okamoto Syndrome	Polydactyly, Abnormally large globe, Wide nasal bridge, Exaggerated median tongue furrow, Cleft p...	ORPHA:2729
Vici Syndrome	Everted upper lip vermilion, T lymphocytopenia, Micrognathia, Median cleft lip, Decreased proport...	OMIM:242840
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Wide anterior fontanel, Umbilical hernia, Macroglossia	OMIM:275100
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Wide nasal bridge, Microdontia, Hypodontia, Hydrocephalus, Short philtrum,...	OMIM:601499
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Macrotia, Hallux valgus, Short metacarpal, Ventricular septal defect, Micrognathia, Renal cyst, A...	ORPHA:166035
Short Syndrome	Abnormal mandible morphology, Sensorineural hearing impairment, Deeply set eye, Abnormality of th...	ORPHA:3163
Kyphomelic Dysplasia	Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Lateral cla...	ORPHA:1801
Cog1-Cdg	High palate, Pierre-Robin sequence, Long philtrum, Coxa valga, Rhizomelia, Micrognathia, Short lo...	ORPHA:263508
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Palmoplantar hyperkeratosis, Cervical ribs, Thin vermili...	OMIM:601812
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Genu varum, Macrotia, Mandibular prognathia, Arteriovenous malformation, Abnormal aortic arch mor...	ORPHA:1110
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Abnormality of the scrotum, Short 5th finger, Microphallus, Bifid scrotum, Micrognat...	ORPHA:397590
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti...	OMIM:613812
Pelviscapular Dysplasia	Deeply set eye, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, Short femur...	ORPHA:93333
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Vesicoureteral reflux, Focal polymicrogyria, Mandibular prognathia, Ventricular septal defect, Wi...	OMIM:619103
Developmental Delay With Variable Neurologic And Brain Abnormalities	Knee flexion contracture, Macrotia, Widely spaced teeth, Microdontia, Micrognathia, Camptodactyly...	OMIM:619694
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met...	ORPHA:174
Maternal Uniparental Disomy Of Chromosome 2	Preaxial hand polydactyly, Decreased response to growth hormone stimulation test, Renal dysplasia...	ORPHA:96179
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Short upper lip, Retrognathia, Deeply set eye, Optic atrophy, Micrognathia, Short philtrum, Anal ...	OMIM:616875
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Exencephaly, Encephalocele, Long philtrum, Preaxial hand polydactyly, Finger syndactyly, Shawl sc...	ORPHA:2211
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, Finger syndactyly, Small hand, Micrognathia, Oligodontia, Supernumerary too...	ORPHA:1787
Nizon-Isidor Syndrome	Gastroesophageal reflux, Deeply set eye, High, narrow palate, Short philtrum, Everted lower lip v...	OMIM:618872
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly, Pyloric stenosis, Hydrocep...	OMIM:218350
Joubert Syndrome 22	2-3 toe syndactyly, Molar tooth sign on MRI, Postaxial foot polydactyly, Postaxial hand polydacty...	OMIM:615665
Histiocytoid Cardiomyopathy	Cyanosis, Ventricular septal defect, Pulmonary edema, Agenesis of corpus callosum, Hydrocephalus,...	ORPHA:137675
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Conductive heari...	OMIM:618500
Partial Deletion Of The Short Arm Of Chromosome 7	Aplasia of the distal phalanx of the 5th finger, Retrognathia, Contracture of thumb, Patent ductu...	ORPHA:261911
Diets-Jongmans Syndrome	Polyhydramnios, Ventricular septal defect, Wide mouth, Hip dysplasia, Duodenal atresia, Long ear,...	OMIM:618846
Coffin-Lowry Syndrome	Tapered finger, Optic atrophy, Delayed eruption of teeth, Everted lower lip vermilion, Pseudoepip...	ORPHA:192
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Microtia, Foot polydactyly, Enlarged kidney, Abnormal cerebral vascular morpholog...	ORPHA:276280
Trisomy 9P	Non-midline cleft lip, Macrotia, Deeply set eye, Clinodactyly of the 5th finger, Brachydactyly, D...	ORPHA:236
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Short 5th metacarpal, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd fin...	OMIM:156510
X-Linked Intellectual Disability Due To Gria3 Mutations	Short upper lip, Macrotia, Narrow palate, Macrodontia of permanent maxillary central incisor, Dee...	ORPHA:364028
Lissencephaly 5	Cerebellar hemisphere hypoplasia, Gray matter heterotopia, Hypoplasia of the brainstem, Hydroceph...	OMIM:615191
Brachydactyly-Preaxial Hallux Varus Syndrome	Radial club hand, Preaxial hand polydactyly, Short metacarpal, Wide nasal bridge, Micrognathia, A...	ORPHA:1278
Mandibulofacial Dysostosis With Alopecia	Conductive hearing impairment, Delayed eruption of primary teeth, Wide nasal bridge, Microtia, Hy...	OMIM:616367
Bardet-Biedl Syndrome 1	Hepatic fibrosis, High palate, Foot polydactyly, Hypodontia, Abnormality of the kidney, Asthma, L...	OMIM:209900
Craniofacial-Deafness-Hand Syndrome	Camptodactyly of finger, Sensorineural hearing impairment, Ulnar deviation of the wrist, Ulnar de...	ORPHA:1529
Congenital Enterovirus Infection	Polyhydramnios, Hepatic failure, Hydrops fetalis, Leukopenia, Neutropenia, Anemia, Abnormal macro...	ORPHA:292
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Urinary incontinence, Sensorineural hearing impairment, Deeply set eye, Hip dislocation, Downturn...	ORPHA:464282
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Volvulus, Left ventricular hypertrophy, Clubbing of fingers, Splenic ru...	ORPHA:335
Frontometaphyseal Dysplasia	Short diaphyses, Short phalanx of finger, Camptodactyly of finger, Wrist flexion contracture, Con...	ORPHA:1826
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Anterior pituitary hypoplasia, Ventricular septal defect, Vertebral hyp...	OMIM:206900
Rapp-Hodgkin Syndrome	Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Hypodontia, Bifid uvula, Taurodon...	OMIM:129400
Cohen Syndrome	Leukopenia, Genu valgum, Tapered finger, Macrodontia of permanent maxillary central incisor, Shor...	OMIM:216550
Nephrotic Syndrome, Type 11	Renal tubular atrophy, Arachnodactyly, IgA deposition in the glomerulus, High palate, Ventricular...	OMIM:616730
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short toe, Genu valgum, Capitate-hamate fusion, Short metacarpal, Short long bone, Hip dysplasia,...	OMIM:614078
Congenital Megacalycosis	Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En...	ORPHA:93109
Radio-Renal Syndrome	Retrognathia, Multicystic kidney dysplasia, Abnormality of the elbow, Renal dysplasia, Renal hypo...	ORPHA:3015
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ascending tubular aorta aneurysm, High palate, Ventricular septal defect, Hyperextensibility of t...	OMIM:309520
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia	OMIM:123155
Waardenburg Syndrome Type 1	Meningocele, Cleft upper lip, Mandibular prognathia, Wide nasal bridge, Spina bifida, Aganglionic...	ORPHA:894
Marfanoid-Progeroid-Lipodystrophy Syndrome	Aortic root aneurysm, Retrognathia, High palate, Deeply set eye, Hyperextensibility of the finger...	OMIM:616914
Syndromic Diarrhea	Patent ductus arteriosus, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of t...	ORPHA:84064
Heterotaxy, Visceral, 8, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec...	OMIM:617205
Specc1L-Related Hypertelorism Syndrome	Patent ductus arteriosus, Short toe, Ventricular septal defect, Long philtrum, Finger syndactyly,...	ORPHA:1519
Laurin-Sandrow Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication...	ORPHA:2378
Holoprosencephaly 3	Ventriculomegaly, Hypotelorism, Bifid uvula, Solitary median maxillary central incisor, Holoprose...	OMIM:142945
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Macrotia, Deeply set eye, Megaloblastic anemia, Wide nasal bridge, Nephrotic syndrome, Micrognath...	ORPHA:2575
Meier-Gorlin Syndrome 3	Micrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Talipes equinovarus...	OMIM:613803
Autoinflammatory-Pancytopenia Syndrome	Hepatic fibrosis, Membranoproliferative glomerulonephritis, Hepatosplenomegaly, Lipodystrophy, Ch...	OMIM:619858
Keipert Syndrome	Sensorineural hearing impairment, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Tent...	ORPHA:2662
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Macrotia, Ventricular septal defect, Short metacarpal, Micrognathia, Renal cyst, Horseshoe kidney...	OMIM:250410
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, 2-3 toe syndactyly, Mandibular prognathia, Sensorineural hearing impairment, Ve...	ORPHA:488632
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Hearing impairment, Protruding ear, Cleft palate	ORPHA:85273
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros...	OMIM:619662
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Finger syndactyly, Microtia, Renal hypoplasia/aplasia, Arrhinencephaly, Radi...	ORPHA:1788
Proximal 16P11.2 Microduplication Syndrome	Deeply set eye, Microtia, Thin upper lip vermilion, Hypertelorism, Smooth philtrum, Arachnodactyl...	ORPHA:370079
Non-Syndromic Metopic Craniosynostosis	Omphalocele, Hypotelorism	ORPHA:3366
Intellectual Developmental Disorder, Autosomal Dominant 65	Thick upper lip vermilion, Noncommunicating hydrocephalus, Macrotia, Short foot, Long philtrum, M...	OMIM:619320
Lymphatic Malformation 8	Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema	OMIM:618773
Cenani-Lenz Syndrome	Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal rib morphology, Abnormal dental enam...	ORPHA:3258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar cyst, Hydroc...	OMIM:615181
Microphthalmia, Syndromic 1	Camptodactyly, Radial deviation of finger, Optic disc coloboma, Hearing impairment, Orofacial cle...	OMIM:309800
Osteolysis Syndrome, Recessive	Knee flexion contracture, Elbow flexion contracture, Metacarpal osteolysis, Hypoplasia of the max...	OMIM:259610
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Hydrocephalus, Short nose, Metaphy...	OMIM:300863
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Absent gallbladder, Short foot, Small hand, Microtia, Ventricular septa...	OMIM:300712
Gallbladder Disease 1	Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm...	OMIM:600803
Tetraploidy	Aplasia/Hypoplasia affecting the eye, Radial club hand, Chiari malformation, Aplasia/Hypoplasia o...	ORPHA:3305
Nephronophthisis 18	Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Hydrocephalu...	OMIM:615862
Microphthalmia With Linear Skin Defects Syndrome	Mandibular aplasia, Abnormal cardiac septum morphology, Micrognathia, Hypertrophic cardiomyopathy...	ORPHA:2556
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Gastroesophageal reflux, Genu valgum, Mandibular prognathia, Tapered finger, Long philtrum, Bicus...	OMIM:619721
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Deeply set eye, Clinodactyly, Short philtrum, Macrothrombocytopenia, Thrombocytope...	OMIM:603585
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Respiratory failure, Desquamative interstitial pneumonitis, Respiratory distress, Recur...	OMIM:263000
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Everted lower lip vermilion, Subm...	OMIM:608670
Acrocapitofemoral Dysplasia	Short tibia, Flared iliac wing, Short proximal phalanx of finger, Pectus excavatum, Short femur, ...	OMIM:607778
Dubowitz Syndrome	Delayed eruption of teeth, Toe syndactyly, Micrognathia, Pectus excavatum, Spina bifida occulta, ...	ORPHA:235
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polydactyly, Polyhydramnios, Conductive hearing impairment, Micrognathia, Broad hallux, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polydactyly, Polyhydramnios, Conductive hearing impairment, Micrognathia, Broad hallux, Abnormal ...	ORPHA:353277
Robinow Syndrome, Autosomal Dominant 2	Conductive hearing impairment, Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Ging...	OMIM:616331
Bainbridge-Ropers Syndrome	Polyhydramnios, Wide nasal bridge, Micrognathia, Everted lower lip vermilion, Deep palmar crease,...	OMIM:615485
Neuralgic Amyotrophy	Respiratory insufficiency, Acrocyanosis, Scapular winging, Narrow mouth, Cleft palate	ORPHA:2901
Laurin-Sandrow Syndrome	Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,...	OMIM:135750
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Ventriculomegaly, Bilateral ra...	OMIM:300514
Intellectual Developmental Disorder, Autosomal Recessive 45	Retrognathia, Deeply set eye, Wide nasal bridge, Hypertelorism, Thick vermilion border	OMIM:615979
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Knee flexion contracture, Bronchiectasis, Cerebellar hypoplasia, Micrognathia, Pulmonary hypoplas...	OMIM:619708
Severe X-Linked Intellectual Disability, Gustavson Type	Triphalangeal thumb, Vesicoureteral reflux, Dilated fourth ventricle, Contractures of the large j...	ORPHA:3078
Joubert Syndrome	Encephalocele, Abnormality of neuronal migration, Episodic tachypnea, Foot polydactyly, Hydroceph...	ORPHA:475
Cardiomyopathy, Familial Hypertrophic, 4	Myofiber disarray, Ventricular hypertrophy, Pulmonary edema, Pericardial effusion, Transient isch...	OMIM:115197
Chromosome 2Q37 Deletion Syndrome	Short phalanx of finger, Short toe, Subvalvular aortic stenosis, Sensorineural hearing impairment...	OMIM:600430
Sulfite Oxidase Deficiency, Isolated	Macrotia, Deeply set eye, Delayed eruption of teeth, Increased urinary sulfite, Decreased urinary...	OMIM:272300
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	2-3 toe syndactyly, Macrotia, Tapered finger, High palate, Wide nasal bridge, Flexion contracture...	OMIM:218000
Congenital Disorder Of Glycosylation, Type 2V	Retrognathia, Gastroesophageal reflux, High palate, Deeply set eye, Wide nasal bridge, Thick verm...	OMIM:619493
Nephronophthisis 15	Nephronophthisis, Polydactyly, Elevated hepatic transaminase	OMIM:614845
Esophageal Atresia	Bronchitis, Cyanosis, Ventricular septal defect, Aspiration, Renal agenesis, Clinodactyly, Pulmon...	ORPHA:1199
Band Heterotopia	Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Subcortic...	OMIM:600348
Genitopatellar Syndrome	Short phalanx of finger, Delayed eruption of teeth, Micrognathia, Pulmonary hypoplasia, Talipes e...	OMIM:606170
Trisomy 12P	Abnormal antihelix morphology, Aplasia/Hypoplasia affecting the eye, Wide nasal bridge, Aplasia/H...	ORPHA:1699
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Micrognathia, Abnormal dental enamel morphology, Abnormality of dental...	OMIM:257850
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P...	OMIM:615986
Renal Agenesis	Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Bilateral renal agenesis, Rena...	ORPHA:411709
Teebi Hypertelorism Syndrome 2	High palate, Delayed eruption of teeth, Microdontia, Clinodactyly of the 5th finger, Short nose, ...	OMIM:619736
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Aminoaciduria, Micrognathia, Peritonitis, Elevated hepatic transamin...	OMIM:619991
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, High palate, Short foot, Aqueductal stenosis, Finger syndactyly,...	ORPHA:93258
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Dilated fourth ventricle, Tracheobronchomalacia, Cerebellar dysplasia, ...	OMIM:617751
Orofaciodigital Syndrome Xi	Gastroesophageal reflux, Cleft palate, Wide nasal bridge, Postaxial polydactyly	OMIM:612913
Orofaciodigital Syndrome Ix	Short tibia, High palate, Toe syndactyly, Hand polydactyly, Camptodactyly, Median cleft lip, Hype...	OMIM:258865
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Frontorhiny	Camptodactyly of finger, Cranium bifidum occultum, Encephalocele, Bifid tongue, Hypoplastic front...	ORPHA:391474
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Dark yellow urine, Fat malabsorption, Jaundi...	ORPHA:30391
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Deeply set eye, Short femoral neck, Short metacarpal, Small hand, Microtia...	OMIM:614813
Acrofrontofacionasal Dysostosis 1	Cleft upper lip, Mandibular prognathia, Short metacarpal, Optic atrophy, Wide mouth, Wide nasal b...	OMIM:201180
Spondyloepimetaphyseal Dysplasia, Krakow Type	2-3 toe syndactyly, Chiari malformation, Elbow contracture, Metaphyseal irregularity, Ulnar devia...	OMIM:618162
Cloacal Exstrophy	Vesicoureteral reflux, Myelomeningocele, Renal hypoplasia/aplasia, Hydroureter, Spina bifida, Tal...	ORPHA:93929
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Conductive hearing impairment, Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow,...	ORPHA:453504
Arboleda-Tham Syndrome	Optic atrophy, Secundum atrial septal defect, Prominent antihelix, Short hallux, Anteverted ears,...	OMIM:616268
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Conductive hearing impairment, Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow,...	ORPHA:352665
Chondrodysplasia, Blomstrand Type	Polyhydramnios, Hydrops fetalis, Advanced ossification of carpal bones, Short ribs, Micrognathia,...	OMIM:215045
Andersen-Tawil Syndrome	2-3 toe syndactyly, High palate, Small hand, Wide nasal bridge, Micrognathia, Oligodontia, Clinod...	ORPHA:37553
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the upper limb, Narrow palate, Crowded maxillary incisors, Aplasia/Hypoplasia of t...	ORPHA:2063
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Interstitial Lung And Liver Disease	Respiratory insufficiency, Aminoaciduria, Abnormal pulmonary interstitial morphology, Intraalveol...	OMIM:615486
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
Seckel Syndrome 2	Microdontia, Micrognathia, Clinodactyly of the 5th finger, Ectopic kidney, Hypospadias, Microglos...	OMIM:606744
Partial Atrioventricular Septal Defect	Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B...	ORPHA:1330
Bor Syndrome	Atresia of the external auditory canal, Vesicoureteral reflux, Retrognathia, Multicystic kidney d...	ORPHA:107
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho...	OMIM:619313
3Q29 Microduplication Syndrome	High palate, Ventricular septal defect, Ectopic anus, Deep philtrum, Toe syndactyly, Wide nasal b...	ORPHA:251038
X-Linked Intellectual Disability, Cilliers Type	Macrotia, Deeply set eye, Small hand, Coronal craniosynostosis, Clinodactyly of the 5th finger, H...	ORPHA:163971
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Type ...	ORPHA:352682
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia, Narrow mouth, High palate, Microphthalmia	ORPHA:2528
Short Stature, Microcephaly, And Endocrine Dysfunction	Anemia, Sensorineural hearing impairment, Deeply set eye, Hypotelorism, Clinodactyly, Unilateral ...	OMIM:616541
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, Penile hypospadias, High palate, Bifid scrotum, Bilateral cryptorchidism, Ambiguous...	OMIM:300219
Bardet-Biedl Syndrome	Hepatic fibrosis, Multicystic kidney dysplasia, Finger syndactyly, Nephrotic syndrome, Hypoplasia...	ORPHA:110
16P12.1P12.3 Triplication Syndrome	Retrognathia, 2-3 toe syndactyly, Decreased response to growth hormone stimulation test, Long phi...	ORPHA:485405
Chromosome 8Q21.11 Deletion Syndrome	Sensorineural hearing impairment, High palate, Short metacarpal, Wide nasal bridge, Micrognathia,...	OMIM:614230
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Hydranencephaly, Short ...	OMIM:601355
Lateral Meningocele Syndrome	Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,...	OMIM:130720
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Robinow Syndrome, Autosomal Dominant 1	Bifid tongue, Delayed eruption of teeth, Short lingual frenulum, Micrognathia, Hypoplastic labia ...	OMIM:180700
Combined Oxidative Phosphorylation Deficiency 11	Renal tubular acidosis, Decreased liver function, Renal dysplasia, Tongue fasciculations, Renal c...	OMIM:614922
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Retrognathia, Multicystic kidney dysplasia, Finger syndactyly, Long philtrum, Toe syndactyly, Int...	ORPHA:73246
Andersen Cardiodysrhythmic Periodic Paralysis	Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Scapular wing...	OMIM:170390
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Simplified gyral pattern, Elbow flexion contracture, Hydrocephalus	OMIM:619470
Cockayne Syndrome Type 3	Conductive hearing impairment, Abnormality of peripheral nerve conduction, Flexion contracture, E...	ORPHA:90324
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Mandibular prognathia, Deeply set eye, Wide nasal bridge	ORPHA:137831
Seckel Syndrome 1	Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated ra...	OMIM:210600
Warburg Micro Syndrome 2	Macrotia, Flexion contracture, Clinodactyly of the 4th toe, Optic atrophy, Deeply set eye, Clinod...	OMIM:614225
Cntnap2-Related Developmental And Epileptic Encephalopathy	Cerebellar vermis atrophy, Abnormality of neuronal migration, Intermittent hyperventilation, Hype...	ORPHA:163681
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Cleft mandible, Prominence of the zygomatic bone, Everted lower lip vermilion, Cleft palate, Hear...	ORPHA:364577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Flexion contracture, Sensorineural hearing impairment, Hypoplasia of the ...	OMIM:615249
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Penile hypospadias, Short 5th finger, Ventriculomegaly, Recurrent aspiration pneumonia, Triangula...	ORPHA:73230
Chromosome 17P13.1 Deletion Syndrome	Knee flexion contracture, High palate, Short foot, Elbow flexion contracture, Hydrocephalus, Long...	OMIM:613776
Pallister-Killian Syndrome	Short phalanx of finger, Flexion contracture, Ventriculomegaly, Renal dysplasia, Delayed eruption...	OMIM:601803
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Tapered finger, Ventriculomegaly, Micrognathia, Taurodontia, Alveolar rid...	ORPHA:444072
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Micrognathia, Elevated hepatic transaminase, Ovarian cyst, Short palm,...	OMIM:614527
Van Den Ende-Gupta Syndrome	Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Disl...	OMIM:600920
Orofaciodigital Syndrome Iv	Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Mic...	OMIM:258860
Holt-Oram Syndrome	Atrioventricular canal defect, Absent thumb, Pectus excavatum, Phocomelia, Abnormal rib morpholog...	ORPHA:392
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Mandibular aplasia, Micrognathia, Gingival fibromatosis, Median cleft lip and palat...	ORPHA:1832
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Pedal edema, Sclerosing cholangitis, Pericarditis, Renal interstitia...	ORPHA:449395
Kleeblattschaedel	Elbow ankylosis, Hydrocephalus, Proptosis	OMIM:148800
Multicentric Osteolysis, Nodulosis, And Arthropathy	Wrist flexion contracture, Thin bony cortex, Delayed eruption of teeth, Micrognathia, Metacarpal ...	OMIM:259600
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Schneckenbecken Dysplasia	Snail-like ilia, Metaphyseal irregularity, Dumbbell-shaped long bone, Thoracic hypoplasia, Anteri...	OMIM:269250
Craniofrontonasal Syndrome	Cleft upper lip, Wide nasal bridge, Toe syndactyly, Coronal craniosynostosis, Clinodactyly of the...	OMIM:304110
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
9Q21.13 Microdeletion Syndrome	Polydactyly, Hip dysplasia, Downturned corners of mouth, Abnormal tongue morphology, Abnormal hea...	ORPHA:531151
Nanophthalmos 2	Microphthalmia	OMIM:609549
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Hallux valgus, Multiple joint contractures, Optic disc pallor, Toe syndactyly, Ventr...	ORPHA:464306
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Abnormal cardiac septum morphology, Micrognathia, Cleft palate, Short palm, Respiratory distress,...	OMIM:217980
Chromosome 14Q11-Q22 Deletion Syndrome	Hip subluxation, Patent foramen ovale, Patent ductus arteriosus, Gastroesophageal reflux, High pa...	OMIM:613457
Fanconi Anemia, Complementation Group F	Patent ductus arteriosus, Vesicoureteral reflux, Absent thumb, Conductive hearing impairment, Pol...	OMIM:603467
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Conotruncal defect, Anotia, Microtia, Bicuspid...	ORPHA:2306
Joubert Syndrome 17	Molar tooth sign on MRI, Preaxial polydactyly, 3-4 finger syndactyly, Abnormal renal morphology, ...	OMIM:614615
Acrocallosal Syndrome	Aplasia/Hypoplasia of the cerebellum, Triphalangeal thumb, Sensorineural hearing impairment, Wide...	ORPHA:36
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Wide nasal bridge, Delayed eruption of teeth, Long penis, Spina bifida occu...	OMIM:135500
Bachmann-Bupp Syndrome	Polyhydramnios, Sensorineural hearing impairment, High palate, Deeply set eye, Dilation of Vircho...	OMIM:619075
Microphthalmia, Syndromic 6	Polydactyly, Toe syndactyly, Micrognathia, Bifid uvula, Uplifted earlobe, Cleft palate, Lambdoida...	OMIM:607932
Joubert Syndrome 20	Respiratory insufficiency, Molar tooth sign on MRI, Renal cyst, 4-5 toe syndactyly, Postaxial pol...	OMIM:614970
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
2P15P16.1 Microdeletion Syndrome	Camptodactyly of finger, Enlarged thorax, Tapered finger, Ventriculomegaly, Supernumerary nipple,...	ORPHA:261349
Encephalocraniocutaneous Lipomatosis	Subvalvular aortic stenosis, Hydronephrosis, Ventricular septal defect, Cerebellar hypoplasia, Hy...	OMIM:613001
Monosomy 9Q22.3	Nephroblastoma, Polydactyly, Palmar pits, Odontogenic keratocysts of the jaw, Long philtrum, Dela...	ORPHA:77301
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the frontal bone, Conductive hearing impairment, Cranium b...	ORPHA:306542
Gaucher Disease Type 3	Mitral valve calcification, Increased susceptibility to fractures, Anemia, Hydrops fetalis, Peric...	ORPHA:77261
Hemochromatosis, Neonatal	Hepatic failure, Hepatic fibrosis, Cirrhosis, Hepatocellular necrosis, Cholestasis, Prolonged neo...	OMIM:231100
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Deeply set eye, Clinodactyly, Short nose, Syndactyly, Hypertelorism, Antev...	OMIM:618087
Lenz-Majewski Hyperostotic Dwarfism	Bifid uvula, Abnormal metaphysis morphology, Cleft palate, Short palm, Abnormal dental enamel mor...	ORPHA:2658
Pycnodysostosis	Increased bone mineral density, Micrognathia, Hepatosplenomegaly, Hypoplastic iliac wing, Increas...	ORPHA:763
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Bardet-Biedl Syndrome 8	Hypospadias, Situs inversus totalis, Postaxial polydactyly, Renal dysplasia	OMIM:615985
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Retrognathia, Penile hypospadias, High palate, Bifid scrotum, Penoscrotal hypospadias, Blind vagi...	ORPHA:456328
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Abnormality...	OMIM:617805
Anencephaly 1	Spina bifida, Anencephaly	OMIM:206500
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Arthritis, Bone cyst, Generalized lymphadenopathy, Pancytopenia, Clubbing, ...	OMIM:181000
Joubert Syndrome 36	Open mouth, Mesoaxial hand polydactyly, Sensorineural hearing impairment, Molar tooth sign on MRI	OMIM:618763
Parietal Foramina 1	Cleft palate, Cleft upper lip, Encephalocele	OMIM:168500
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Small hand, Bifid uvul...	ORPHA:254516
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent ductus arteriosus, Patent foramen ovale, Flexion contracture, High palate, Secundum atrial...	OMIM:616866
Dandy-Walker Syndrome	Dilated fourth ventricle, Partial absence of cerebellar vermis, Hydrocephalus, Agenesis of cerebe...	OMIM:220200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Wide nasal ...	OMIM:617102
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Cyanosis, Genu valgum, Sensorineural hearing impairment, Ventriculo...	ORPHA:488627
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, High palate, Clinodactyly of the 5th finger, Upper limb asymmetry, Dental crowding, ...	ORPHA:231140
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, High palate, Mitral valve prolapse, Absent nipple, Hydrocephalus, Pectu...	OMIM:104350
Pontocerebellar Hypoplasia, Type 7	Thick upper lip vermilion, Ambiguous genitalia, High palate, Ventriculomegaly, Deep philtrum, Mic...	OMIM:614969
Au-Kline Syndrome	Coxa valga, Bifid tongue, Bifid uvula, Overlapping toe, Cleft palate, Deep palmar crease, Lipomye...	OMIM:616580
Barth Syndrome	3-Methylglutaconic aciduria, Macrotia, Deeply set eye, Mandibular prognathia, Dilated cardiomyopa...	OMIM:302060
Paganini-Miozzo Syndrome	Urinary incontinence, Mandibular prognathia, Deeply set eye, Microtia, Downturned corners of mout...	OMIM:301025
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Conductive hearing impairment, Broad hallux, Abnormality of the urinary system, Nephrolithiasis, ...	ORPHA:353281
Shprintzen-Goldberg Syndrome	Camptodactyly of finger, Conductive hearing impairment, Micrognathia, Elbow dislocation, Abnormal...	ORPHA:2462
Acrocephalopolydactyly	Thoracic hypoplasia, Short long bone, Hepatosplenomegaly, Limb undergrowth, Brachydactyly, Abnorm...	ORPHA:221054
Ventriculomegaly With Defects Of The Radius And Kidney	Absent thumb, Ventriculomegaly, Lateral ventricle dilatation, Renal agenesis, Hydrocephalus, Ecto...	OMIM:602200
Acrodysostosis	Short toe, Mandibular prognathia, Short metacarpal, Delayed eruption of teeth, Hypoplasia of the ...	ORPHA:950
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Fat mala...	ORPHA:79302
Axial Spondylometaphyseal Dysplasia	Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ...	ORPHA:168549
Localized Scleroderma	Dental malocclusion, Gastroesophageal reflux, Flexion contracture, Deeply set eye, Abnormality of...	ORPHA:90289
Mandibulofacial Dysostosis, Guion-Almeida Type	Conductive hearing impairment, Preaxial hand polydactyly, Ventricular septal defect, Deep philtru...	OMIM:610536
Pseudoachondroplasia	Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim...	ORPHA:750
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Intellectual Developmental Disorder, Autosomal Dominant 68	Patent ductus arteriosus, 2-3 toe syndactyly, Urinary incontinence, Gastroesophageal reflux, High...	OMIM:619934
Kinsship Syndrome	Polydactyly, Coxa valga, Micrognathia, Hip dislocation, Cervical ribs, Dislocated radial head, Sm...	OMIM:619297
Progressive Hemifacial Atrophy	Micrognathia, Abnormal mandible morphology, Deeply set eye	ORPHA:1214
Dystonia, Juvenile-Onset	Cleft upper lip, Sensorineural hearing impairment, Achalasia, Femoral retroversion, Pseudobulbar ...	OMIM:607371
Pericardial And Diaphragmatic Defect	Patent ductus arteriosus, Abnormal sternum morphology, Pulmonary sequestration, Mitral stenosis, ...	ORPHA:2847
Johnson Neuroectodermal Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Preaxial hand polydactyly,...	ORPHA:2316
Isolated Splenogonadal Fusion	Ectopia of the spleen, Polysplenia, Abnormal penis morphology	ORPHA:457083
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Macrotia, Tapered finger, Long philtrum, Cerebellar hypoplasia, Thick lower lip vermilion, Simpli...	OMIM:614407
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/Hypoplasia of the maxilla, Conotruncal defect, High palate...	ORPHA:40366
Mental Retardation Syndrome, Belgian Type	Mandibular prognathia, Deeply set eye	OMIM:249599
Peroxisome Biogenesis Disorder 11A (Zellweger)	Wide anterior fontanel, Elevated hepatic transaminase, Renal cyst, Multiple renal cysts, Decrease...	OMIM:614883
Loeys-Dietz Syndrome 2	Ascending tubular aorta aneurysm, Aortic arch aneurysm, Micrognathia, Bifid uvula, Camptodactyly,...	OMIM:610168
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Fanconi Anemia, Complementation Group L	Absent thumb, Anemia, Low-set ears, Anotia, Microtia, Esophageal atresia, Wide nasal bridge, Micr...	OMIM:614083
Aicardi-Goutieres Syndrome 7	Anemia, Atrophic gastritis, Hemolytic anemia, Nephrotic syndrome, Pericardial effusion, Hepatitis...	OMIM:615846
Curry-Jones Syndrome	Lip pit, Preaxial hand polydactyly, Ventriculomegaly, 2-3 finger syndactyly, Preaxial foot polyda...	OMIM:601707
Surfactant Metabolism Dysfunction, Pulmonary, 3	Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par...	OMIM:610921
Neonatal Marfan Syndrome	Aortic root aneurysm, Ascending tubular aorta aneurysm, Flexion contracture, Deeply set eye, Wide...	ORPHA:284979
Omphalocele	Omphalocele	ORPHA:660
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Deeply set eye, Cardiomegaly, Elevated hepatic transaminase, Hepatomegaly	OMIM:619064
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Sensorineural hearing impairment, Exocrine pancreatic insufficiency, Achilles t...	OMIM:616263
Kleefstra Syndrome 1	Gastroesophageal reflux, Tracheobronchomalacia, Mandibular prognathia, Conotruncal defect, Natal ...	OMIM:610253
Pfeiffer Syndrome	Short middle phalanx of toe, Mandibular prognathia, High palate, Finger syndactyly, Humeroradial ...	OMIM:101600
Knobloch Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Bifid ureter, Pyloric stenosis, Hydrocephalus, D...	ORPHA:1571
Witteveen-Kolk Syndrome	Polyhydramnios, Wide nasal bridge, Toe syndactyly, Overlapping toe, Radial deviation of finger, S...	OMIM:613406
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary...	OMIM:618780
Drug-Induced Lupus Erythematosus	Anemia, Pericardial effusion, Hematuria, Pericarditis, Thrombocytopenia	ORPHA:231111
Grant Syndrome	Narrow chest, Micrognathia, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphol...	ORPHA:2097
Alexander Disease	Abnormal dentate nucleus morphology, Increased CSF protein concentration, Death in infancy, Hydro...	OMIM:203450
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Deeply set eye, Everted upper lip vermilion, Wide mouth, Widely spaced teeth, Microtia, Oligohydr...	OMIM:619056
Atelosteogenesis, Type I	Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo...	OMIM:108720
Holoprosencephaly 2	Cerebellar hypoplasia, Hypotelorism, Bifid uvula, Submucous cleft hard palate, Semilobar holopros...	OMIM:157170
Dominant Beta-Thalassemia	Hepatic fibrosis, Cirrhosis, Genu valgum, Hypersplenism, Jaundice, Malar prominence, Hyperplasia ...	ORPHA:231226
Renpenning Syndrome 1	Wide nasal bridge, Micrognathia, Camptodactyly, Synostosis of the proximal phalanx of the thumb w...	OMIM:309500
Coffin-Siris Syndrome 12	Hip subluxation, Noncommunicating hydrocephalus, Micrognathia, Elevated hepatic transaminase, Pro...	OMIM:619325
Galloway-Mowat Syndrome 1	Ventriculomegaly, Micrognathia, Camptodactyly, Slender finger, Talipes equinovarus, Hypoplasia of...	OMIM:251300
Hurler Syndrome	Camptodactyly of finger, Cardiomyopathy, Abnormality of the elbow, Thick vermilion border, Hydroc...	ORPHA:93473
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening	ORPHA:1513
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Congenital Disorder Of Glycosylation, Type Ib	Lymphangiectasis, Cirrhosis, Proximal tubulopathy, Hepatic fibrosis, Hepatic failure, Villous atr...	OMIM:602579
Desanto-Shinawi Syndrome	Sensorineural hearing impairment, Deeply set eye, Thin upper lip vermilion, Downturned corners of...	OMIM:616708
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect	ORPHA:476126
Curry-Jones Syndrome	Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Intestinal malrot...	ORPHA:1553
Baller-Gerold Syndrome	Conductive hearing impairment, Abnormal carpal morphology, Abnormal cardiac septum morphology, Mi...	ORPHA:1225
Williams Syndrome	Aortic arch aneurysm, Colonic diverticula, Hallux valgus, Aplasia/Hypoplasia of the iris, Microdo...	ORPHA:904
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Ectodermal dysplasia, Macrotia, Thin upper lip vermilion, Syndactyly, Cardiome...	OMIM:613576
15Q14 Microdeletion Syndrome	Deeply set eye, Ventricular septal defect, Long philtrum, Short philtrum, Atrial septal defect, S...	ORPHA:261190
Osteopathia Striata-Cranial Sclerosis Syndrome	Conductive hearing impairment, Wide nasal bridge, Large iliac wing, Delayed eruption of teeth, In...	ORPHA:2780
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Thick upper lip vermilion, Enlarged thorax, Short thorax, Long philtrum, Wide mouth, Short long b...	ORPHA:163654
Musculocontractural Ehlers-Danlos Syndrome	Tapered finger, Slender finger, Cleft palate, Nephrolithiasis, Hearing impairment, Arthrogryposis...	ORPHA:2953
Down Syndrome	Atrioventricular canal defect, Double outlet right ventricle, Patent foramen ovale, Ventricular s...	OMIM:190685
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Vesicoureteral reflux, Micrognathia, Slender long bone, Brachydactyly, Cleft palate...	OMIM:618265
Beare-Stevenson Cutis Gyrata Syndrome	Palmoplantar cutis laxa, Ventriculomegaly, Chiari malformation, Bifid uvula, Overlapping toe, Lim...	OMIM:123790
Oeis Complex	Vesicovaginal fistula, Ambiguous genitalia, female, Bifid uterus, Talipes equinovarus, Absent scr...	OMIM:258040
Weill-Marchesani Syndrome 2	Thin bony cortex, Elbow flexion contracture, Ascending aortic dissection, Flexion contracture of ...	OMIM:608328
47,Xyy Syndrome	Cerebellar dysplasia, Low-set ears, Abnormal brainstem morphology, Dysgenesis of the cerebellar v...	ORPHA:8
Mend Syndrome	2-3 toe syndactyly, High palate, Wide anterior fontanel, Micrognathia, Abnormal auditory evoked p...	ORPHA:401973
Axial Osteomalacia	Renal cyst, Increased bone mineral density, Polycystic liver disease, Osteomalacia	OMIM:109130
17Q24.2 Microdeletion Syndrome	Vesicoureteral reflux, Upper limb undergrowth, Otosclerosis, Patent ductus arteriosus after birth...	ORPHA:529962
Frank-Ter Haar Syndrome	Short phalanx of finger, Abnormally large globe, Micrognathia, Secundum atrial septal defect, Cam...	OMIM:249420
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Atrial septal defect, Spina bif...	ORPHA:2475
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Ventricular septal defect, Glossoptosis, Bilateral cleft lip, Ankylo...	OMIM:618021
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor...	OMIM:278000
1p36 microdeletion syndrome	Deeply set eye	DECIPHER:18
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Genu valgum, Flexion contracture, Deeply set eye, Cleft soft palate, Optic atrophy, Hydrocephalus...	OMIM:619321
Apert Syndrome	Respiratory insufficiency, Conductive hearing impairment, Ventriculomegaly, Chiari malformation, ...	ORPHA:87
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Mandibular aplasia, Micrognathia, Bifid uvula, Hypoplastic labia majora,...	ORPHA:2554
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Deeply set eye, Long philtrum, Thin upper lip vermilion, Broad thumb, Brachydactyly, Low-set ears...	OMIM:617763
Joubert Syndrome With Oculorenal Defect	Encephalocele, Abnormality of neuronal migration, Molar tooth sign on MRI, Foot polydactyly, Hydr...	ORPHA:2318
48,Xxxy Syndrome	Coxa valga, Renal dysplasia, Delayed eruption of teeth, Taurodontia, Hip dislocation, Elbow dislo...	ORPHA:96263
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft lip, Conductive hearing impairment, Polyhydram...	ORPHA:199302
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Flexion contracture, Tapered finger, Optic atrophy, Micrognathia, Camptodactyly, Overlapping toe,...	OMIM:309590
3M Syndrome	Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Everted lower lip vermilion, Abnorma...	ORPHA:2616
Combined Oxidative Phosphorylation Deficiency 37	3-Methylglutaconic aciduria, Elevated hepatic transaminase, Hypertrophic cardiomyopathy, Bile duc...	OMIM:618329
Congenital Tracheomalacia	Patent ductus arteriosus, Gastroesophageal reflux, Tracheobronchomalacia, Ventricular septal defe...	ORPHA:95430
Campomelic Dysplasia	11 pairs of ribs, Ambiguous genitalia, Ventriculomegaly, Short long bone, Micrognathia, Hypoplast...	ORPHA:140
Stickler Syndrome	Micrognathia, Hip dislocation, Tooth agenesis, Cleft palate, Glossoptosis, Hearing impairment, Ab...	ORPHA:828
Acromicric Dysplasia	Short phalanx of finger, Short foot, Short metacarpal, Long philtrum, Thick lower lip vermilion, ...	OMIM:102370
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	2-3 toe syndactyly, Patent foramen ovale, Double outlet right ventricle, Ventricular septal defec...	ORPHA:477817
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Thoracic hypoplasia, Hypoplastic pubic bone, Hypoplastic...	OMIM:614524
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:1587
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Scapular winging, Cleft palate, Talipes equinovarus, Vertebral fusion, C...	OMIM:272460
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Tapered finger, Short 3rd toe, Deeply set eye, Recurrent urinary tract infections, Short 4th toe,...	OMIM:618707
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Hearing abnormality, Abnormal car...	ORPHA:1352
Autosomal Dominant Hyper-Ige Syndrome	Gingivitis, Vascular dilatation, Osteomyelitis, Recurrent fractures, Wide nasal bridge, Delayed e...	ORPHA:2314
Hamamy Syndrome	Complete atrioventricular canal defect, Atrial septal defect	OMIM:611174
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Death in infancy, Hepatocellular necrosis, Exercise-induced myoglobinuria, D...	OMIM:201475
8Q21.11 Microdeletion Syndrome	Camptodactyly of finger, High palate, Finger syndactyly, Micrognathia, Abnormal metacarpal morpho...	ORPHA:284160
Silent Sinus Syndrome	Deeply set eye	ORPHA:71276
Malan Overgrowth Syndrome	High palate, Deeply set eye, Slender long bone, Optic disc hypoplasia, Narrow mouth, Optic disc p...	ORPHA:420179
Lissencephaly, X-Linked, 2	High palate, Wide anterior fontanel, Long philtrum, Ventriculomegaly, Micrognathia, Agenesis of c...	OMIM:300215
Nijmegen Breakage Syndrome	2-3 toe syndactyly, Cleft upper lip, Macrotia, T lymphocytopenia, Deep philtrum, Recurrent urinar...	OMIM:251260
Refsum Disease	Renal insufficiency, Sensorineural hearing impairment, Short metacarpal, Microphthalmia, Hammerto...	ORPHA:773
Maxillonasal Dysplasia	Mandibular prognathia, Microdontia, Short nose, Hypoplasia of the maxilla, Tooth agenesis, Aplasi...	ORPHA:1248
Microphthalmia, Lenz Type	Camptodactyly of finger, Complete duplication of thumb phalanx, Finger syndactyly, Abnormality of...	ORPHA:568
Spondylo-Ocular Syndrome	Abnormal antihelix morphology, Ventricular septal defect, Long philtrum, Osteoporosis, Hypertelor...	ORPHA:85194
Rere-Related Neurodevelopmental Syndrome	Vesicoureteral reflux, Gastroesophageal reflux, Ventricular septal defect, Optic atrophy, Hip dys...	ORPHA:494344
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Agenesis of corpus callosum, Uraciluria	OMIM:274270
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Gastroesophageal reflux, Deeply set eye, Microtia	OMIM:618158
Apnea, Central Sleep	Cyanosis, Urinary incontinence, Irregular respiration, Abnormal pattern of respiration, Sleep apnea	OMIM:207720
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left sup...	OMIM:618775
Amyotrophy, Hereditary Neuralgic	Deeply set eye, Brachial plexus neuropathy, Narrow mouth, Low-set ears, Cleft palate, Hypotelorism	OMIM:162100
Lethal Congenital Contracture Syndrome 1	Micrognathia, Neonatal death, Pulmonary hypoplasia, Abnormal thorax morphology	OMIM:253310
Arachnoid Cyst	Urinary incontinence, Encephalocele, Chiari malformation, Urinary bladder sphincter dysfunction, ...	ORPHA:2356
Aase-Smith Syndrome I	Flexion contracture, Ventricular septal defect, Death in infancy, Hydrocephalus, Talipes equinova...	OMIM:147800
Dysplastic Cortical Hyperostosis	Abnormality of neuronal migration, Aplasia/Hypoplasia of the lungs, Limb undergrowth, Hepatomegal...	ORPHA:2204
Diamond-Blackfan Anemia 7	Triphalangeal thumb, Vesicoureteral reflux, Patent ductus arteriosus, Polyhydramnios, Ventricular...	OMIM:612562
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Deeply set eye	OMIM:619058
X-Linked Dominant Chondrodysplasia Punctata	Flexion contracture, Sensorineural hearing impairment, High palate, Abnormally ossified vertebrae...	ORPHA:35173
You-Hoover-Fong Syndrome	Vascular ring, Clinodactyly, Accessory oral frenulum, Coarctation of aorta, Double aortic arch, B...	OMIM:616954
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ventriculomegaly, Chiari malformation, Renal dysplasia, Hip dislocation, Postaxial hand polydacty...	OMIM:308205
Townes-Brocks Syndrome	Abnormal cardiac septum morphology, Toe syndactyly, Absent toe, Abnormal rib morphology, Hearing ...	ORPHA:857
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Syndactyly, Microphthalmia, Brachydactyly, Hearing impairment	OMIM:610023
C Syndrome	Toe syndactyly, Micrognathia, Dislocated radial head, Smooth philtrum, Cleft palate, Gingival ove...	ORPHA:1308
Leprechaunism	Enlarged kidney, Protruding ear, Long penis, Megarectum, Hypertrophic cardiomyopathy, Hypertelori...	ORPHA:508
Cockayne Syndrome B	Optic atrophy, Abnormal auditory evoked potentials, Ivory epiphyses of the phalanges of the hand,...	OMIM:133540
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Abnormality of peripheral nerve conduction, Micrognathia, Malar prominen...	ORPHA:48431
Acrocraniofacial Dysostosis	Conductive hearing impairment, Coxa valga, Tapered finger, Abnormality of the middle ear ossicles...	ORPHA:949
Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal cupping, Hip contracture, Short ribs, Short long bone, Micrognathia, Hyperphosphaturi...	OMIM:156400
Joubert Syndrome 30	Gray matter heterotopia, Ventriculomegaly, Molar tooth sign on MRI, Apnea, Postaxial hand polydac...	OMIM:617622
Camptobrachydactyly	Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly	OMIM:114150
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Hepatocellular carcinoma, Elevated hepatic t...	ORPHA:370
Infantile Liver Failure Syndrome 3	Abnormality of the epiphysis of the femoral head, Jaundice, Elevated hepatic transaminase, Hypopl...	OMIM:618641
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Tapered finger, Duodenal atresia, Short toe, Ventricular septal defect, Pelvic ki...	ORPHA:464311
Nablus Mask-Like Facial Syndrome	Tapered finger, Wide nasal bridge, Camptodactyly, Everted lower lip vermilion, Short hallux, Smoo...	OMIM:608156
Senior-Boichis Syndrome	Hepatic fibrosis, Cirrhosis, Abnormal renal insterstitial morphology, Stage 5 chronic kidney dise...	ORPHA:84081
Scimitar Syndrome	Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep...	ORPHA:185
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Deeply set eye, Enamel hypoplasia, High palate, Retrognathia	OMIM:617915
Chédiak-Higashi Syndrome	Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Pleural effusion, Decrea...	ORPHA:167
Penile Agenesis	Ambiguous genitalia, Absent penis, Urethral fistula, Pulmonary hypoplasia, Abnormality of the bla...	ORPHA:49
Farber Disease	Respiratory insufficiency, Short toe, Hepatic fibrosis, Flexion contracture, Nodular pattern on p...	ORPHA:333
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Bifid tongue, Aplasia/Hypoplasia of the lungs, Renal hypoplasia...	ORPHA:2167
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Chronic sinusitis, Recurrent otitis media, Situs inversus totalis, Dextrocardia, Abdominal situs ...	OMIM:619607
Albers-Schönberg Osteopetrosis	Genu valgum, Abnormal metaphysis morphology, Hydrocephalus, Abnormal metacarpal morphology, Mandi...	ORPHA:53
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, 2-3 toe syndactyly, Aortopulmonary window, Ventricular septal defect, Finger sy...	OMIM:620025
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ...	OMIM:601927
Brachyolmia Type 1, Hobaek Type	Short femoral neck, Short long bone, Flat acetabular roof, Sclerotic foci of metaphyses of the el...	OMIM:271530
Nephronophthisis 20	Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff...	OMIM:617271
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Arachnodactyly, High palate, Pyloric stenosis, Hydrocephalus, Elevated hepat...	OMIM:310400
Lymphangioleiomyomatosis	Renal angiomyolipoma, Optic atrophy, Lymphedema, Hydrocephalus, Hematuria, Chylopericardium, Abno...	ORPHA:538
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Hypoglycorrhachia, Central apnea	ORPHA:71277
Bartsocas-Papas Syndrome 2	Small hand, 2-5 finger cutaneous syndactyly, Micrognathia, Absent distal phalanges, Microphthalmi...	OMIM:619339
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Stomach cancer, Anemia, Enlarged polycystic ovaries, Abnormal pigmenta...	ORPHA:2869
Joubert Syndrome 13	Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia	OMIM:614173
Spondylocostal Dysostosis 5	Supernumerary ribs, Missing ribs, Posterior rib fusion, Pectus carinatum	OMIM:122600
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Ab...	ORPHA:251004
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Dilatation of renal calices, Gastroesophageal reflux, Deeply set eye, Branchial anomaly, Wide mou...	ORPHA:466950
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Microtia, Widely spaced teeth, Microdontia, Recurrent otitis med...	ORPHA:2728
African Iron Overload	Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos...	ORPHA:139507
B4Galt1-Cdg	Long philtrum, Cerebellar hypoplasia, Hydrocephalus, Elevated hepatic transaminase, Thin upper li...	ORPHA:79332
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Micrognathia, Agenesis of c...	OMIM:225790
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Downturned corners of mouth, Deeply set eye, Deep philtrum	OMIM:618859
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Enamel hypoplasia, Patent foramen ovale, Pierre-Robin sequence, Short long bone...	OMIM:619184
Joubert Syndrome 15	Nephronophthisis, Polydactyly, Ambiguous genitalia, Micropenis	OMIM:614464
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Retrognathia, Deeply set eye, Optic atrophy, Micrognathia, Short philtrum, Anal atresia, Laryngot...	ORPHA:480898
Gorlin Syndrome	Palmar pits, Mandibular prognathia, Hydrocephalus, Brachydactyly, Hypogonadotropic hypogonadism, ...	ORPHA:377
Adams-Oliver Syndrome 1	Pulmonary arterial hypertension, Cleft upper lip, Encephalocele, Ventricular septal defect, Ventr...	OMIM:100300
Multiple Epiphyseal Dysplasia Type 4	Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis,...	ORPHA:93307
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Dental malocclusion, Tapered finger, Wide nasal bridge, Clinodactyly, Down-sloping shoulders, Mic...	OMIM:615560
Developmental And Epileptic Encephalopathy 95	Cerebellar vermis atrophy, Short 4th metacarpal, Multiple joint contractures, Hepatomegaly, Gingi...	OMIM:618143
Congenital Disorder Of Deglycosylation 1	Chondroitin sulfate excretion in urine, 3-Methylglutaconic aciduria, Hepatic fibrosis, Short foot...	OMIM:615273
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Flexion contracture, Sensorineural hearing impairment, Paresis of extensor muscles of the big toe...	ORPHA:99947
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly, Cirrhosis	OMIM:271500
Codas Syndrome	Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Extrahepatic biliary duct...	ORPHA:1458
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Double outlet right ventricle, Abnormal hand morphology, Ventricular septal defect, Bicuspid aort...	ORPHA:371428
Muenke Syndrome	Sensorineural hearing impairment, Short foot, Hydrocephalus, Carpal synostosis, Hypertelorism, Pr...	ORPHA:53271
Frontofacionasal Dysplasia	Non-midline cleft lip, Encephalocele, Short nose, Hypertelorism, Microphthalmia, Cleft palate	ORPHA:1791
Mucopolysaccharidosis Type 4	Bowing of the long bones, Genu valgum, Short thorax, Coxa valga, Wide mouth, Grayish enamel, Muco...	ORPHA:582
Horner Syndrome, Congenital	Deeply set eye, Congenital Horner syndrome	OMIM:143000
Crouzon Syndrome	Respiratory insufficiency, Conductive hearing impairment, Narrow palate, Chiari malformation, Nar...	ORPHA:207
Arterial Tortuosity Syndrome	Coxa valga, Abnormal carotid artery morphology, Hip dislocation, Hypertrophic cardiomyopathy, Pul...	ORPHA:3342
Bardet-Biedl Syndrome 6	External genital hypoplasia, Renal cyst, Syndactyly, Hypospadias, Vaginal atresia, Postaxial poly...	OMIM:605231
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Joubert Syndrome 32	Abnormal cerebellum morphology, Molar tooth sign on MRI, Postaxial foot polydactyly, Hypertrophic...	OMIM:617757
Glycogen Storage Disease Ia	Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic transaminase, Gout, Osteoporosis, Dec...	OMIM:232200
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Cleft upper lip, Scarring, Hydrocephalus	ORPHA:398189
Warburg Micro Syndrome 4	Flexion contracture, Deeply set eye, Long philtrum, Optic atrophy, Decreased motor nerve conducti...	OMIM:615663
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Cryptorchidism	ORPHA:261102
Beta-Thalassemia Major	Hepatic fibrosis, Cirrhosis, Genu valgum, Hypersplenism, Jaundice, Malar prominence, Hyperplasia ...	ORPHA:231214
Bohring-Opitz Syndrome	Ventriculomegaly, Abnormal cardiac septum morphology, Micrognathia, Cleft palate, Nephroblastoma,...	ORPHA:97297
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Shoulder dislocation, Hydrocephalus, Adducted thumb, Arachnodactyly, High, narrow palate, Umbilic...	ORPHA:2181
Intellectual Developmental Disorder, Autosomal Dominant 52	Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, High palate, Deeply set eye, S...	OMIM:617796
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Patent ductus arteriosus, Anomalous origin of left pulmonary artery from ascending aorta, Arteria...	ORPHA:99050
Neural Tube Defects, Susceptibility To	Multiple lipomas, Urinary incontinence, Myelomeningocele, Absence of the sacrum, Anencephaly, Hyd...	OMIM:182940
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Deeply set eye	OMIM:300699
Lacrimoauriculodentodigital Syndrome 1	2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox...	OMIM:149730
Bile Acid Synthesis Defect, Congenital, 5	Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa...	OMIM:616278
Congenital Myopathy 1B, Autosomal Recessive	Respiratory insufficiency, High palate, Increased connective tissue, Pulmonary hypoplasia, Recurr...	OMIM:255320
Fanconi Anemia, Complementation Group S	Thick upper lip vermilion, Dental malocclusion, Anemia, Narrow palate, Clinodactyly, Hyperteloris...	OMIM:617883
Peho Syndrome	Flexion contracture, Tapered finger, Ventriculomegaly, Macrotia, Hydrocephalus, Atrophy/Degenerat...	ORPHA:2836
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the frontal bone, Holoprosencephaly, Proptosi...	ORPHA:563612
Lymphatic Malformation 7	Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E...	OMIM:617300
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Renal dysplasia, Pericardial effusion, Ascites, Micrognathia, Pleural effusion, P...	OMIM:618183
Kabuki Syndrome	Lip pit, Short 5th finger, Ventriculomegaly, Abnormal cardiac septum morphology, Precocious puber...	ORPHA:2322
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen...	OMIM:601331
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho...	ORPHA:93351
Hydrocephalus, Congenital, X-Linked	Contracture of thumb, Aqueductal stenosis, Hydrocephalus, Adducted thumb, Agenesis of corpus call...	OMIM:307000
Pulmonary Capillary Hemangiomatosis	Pedal edema, Pulmonary edema, Pericardial effusion, Clubbing of fingers, Pleural effusion, Lympha...	ORPHA:199241
Diamond-Blackfan Anemia 21	Short toe, Genu valgum, Preaxial hand polydactyly, Tapered finger, Hallux valgus, Anemia, Hip dys...	OMIM:620072
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Jaundice, Elevated hepatic...	ORPHA:26793
Timothy Syndrome	Bronchitis, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, Microdonti...	OMIM:601005
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera...	OMIM:613027
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	2-3 toe syndactyly, Macrotia, Deeply set eye, Lymphopenia, Thin vermilion border, Abnormality of ...	ORPHA:391307
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis, Proptosis, Short distal phalanx of finger, Abnormality of ...	ORPHA:2776
Fraser Syndrome 3	Ureteral agenesis, Short toe, Hypoplasia of the bladder, Bilateral renal agenesis, Micrognathia, ...	OMIM:617667
Cockayne Syndrome A	Optic atrophy, Abnormal auditory evoked potentials, Ivory epiphyses of the phalanges of the hand,...	OMIM:216400
Pontocerebellar Hypoplasia, Type 6	Deeply set eye, Gastroesophageal reflux, Narrow palate, Elbow contracture	OMIM:611523
Trichorhinophalangeal Syndrome, Type Ii	Hip subluxation, Coxa valga, Wide nasal bridge, Micrognathia, Scapular winging, Hearing impairmen...	OMIM:150230
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Hearing impairment, Chronic otitis media, Hip dysplasia, Hypertelorism, Proptosis, Talipes cavus ...	OMIM:300966
Mirage Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Leukopenia, Radial club hand, Esophageal stric...	OMIM:617053
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Dislocation Of The Hip-Dysmorphism Syndrome	Patent ductus arteriosus, Deviation of finger, Abnormal cardiac septum morphology, Prominence of ...	ORPHA:2412
Exstrophy-Epispadias Complex	Absent penis, Renal dysplasia, Bladder fistula, Abnormality of the abdominal wall, Abnormality of...	ORPHA:322
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Aganglionic megacolon, Polysyndactyly of hallux, Ventricular septal de...	OMIM:235750
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Right aortic arch, Coarctation of aorta	OMIM:140850
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cirrhosis, Abnormal pulmonary interstitial morphology, High palate, Recurrent urinary tract infec...	OMIM:613658
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Ascending tubular aorta aneurysm, Wide nasal bridge, Abnormal auto...	ORPHA:453499
Waardenburg Syndrome Type 3	Camptodactyly of finger, Abnormality of the upper limb, Abnormal finger morphology, Cutaneous fin...	ORPHA:896
Cartilage-Hair Hypoplasia	Spinal dysraphism, Abnormal cardiac septum morphology, Abnormal distal phalanx morphology of fing...	ORPHA:175
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Premature graying of hair, Cerebellar hypoplasia, Urethral stricture, Dilated c...	OMIM:613989
Sifrim-Hitz-Weiss Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Tapered finger, Short femoral neck, Ventricular ...	OMIM:617159
8Q22.1 Microdeletion Syndrome	Camptodactyly of finger, Abnormal antihelix morphology, Finger syndactyly, Long philtrum, Wide na...	ORPHA:178303
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hyperextensibility at wrists, Macrotia, High palate, Long philtrum, Flexion contracture, Hip disl...	ORPHA:481152
Intellectual Developmental Disorder, Autosomal Dominant 35	Deeply set eye, Pyloric stenosis, Hydrocephalus, Congenital hip dislocation, Hypertelorism, Open ...	OMIM:616355
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Bilateral renal agenesis, Cerebellar hypoplasia, Simplified gyral pattern, Arr...	OMIM:617914
Deafness-Craniofacial Syndrome	Patent ductus arteriosus, Sensorineural hearing impairment, Bifid tongue, Wide nasal bridge, Deep...	ORPHA:3241
Metaphyseal Dysplasia Without Hypotrichosis	Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ...	OMIM:250460
Holoprosencephaly, Semilobar, With Craniosynostosis	Short distal phalanx of finger, Semilobar holoprosencephaly, Coxa valga, Hypoplastic vertebral bo...	OMIM:601370
Cutis Laxa, Autosomal Recessive, Type Iiib	Flexion contracture, Deeply set eye, Elbow flexion contracture, Pyloric stenosis, Hip dislocation...	OMIM:614438
Contractures-Developmental Delay-Pierre Robin Syndrome	Wrist flexion contracture, Abnormal finger morphology, Microtia, Glossoptosis, Hip dysplasia, Mic...	ORPHA:436003
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Tapered finger, Hallux valgus, Cleft soft palate, Dysphagia, Hearing impairment, Ven...	ORPHA:268261
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Toe syndactyly, Selective tooth agenesis, Microdontia, Ectrodactyly, Cleft palat...	OMIM:604292
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Vesicoureteral reflux, Left unicoronal synostosis, Wide nasal bridge, Shortening of all distal ph...	OMIM:614749
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Asplenia, Cirrhosis, Hepatitis, Steatorrhea, Iron deficiency anemia, Chronic hepatitis, ...	OMIM:269200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Periventricular heterotopia, Cerebellar hypoplasia, Erlenmeyer flask deformity ...	OMIM:618476
Tibial Hemimelia	Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me...	ORPHA:93322
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, A...	OMIM:602196
Kapur-Toriello Syndrome	Patent ductus arteriosus, Ventricular septal defect, Hypoplasia of penis, Intestinal malrotation,...	ORPHA:2328
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Urinary incontinence, Palmoplantar cutis laxa, Wide anterior fontanel, Rhizomelia, Hydrocephalus,...	OMIM:616482
Kyphomelic Dysplasia	Cleft upper lip, Anterior rib cupping, Short metacarpal, Radial bowing, Micrognathia, Flat acetab...	OMIM:211350
Naxos Disease	Cardiomyopathy, Palmoplantar keratoderma, Cleft upper lip, Vertigo	ORPHA:34217
Achondrogenesis	Short thorax, Long philtrum, Aplasia/Hypoplasia of the lungs, Micrognathia, Micromelia, Narrow ch...	ORPHA:932
Saethre-Chotzen Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Hallux valgus, Optic atrophy, Cleft...	ORPHA:794
Scleroderma	Osteolytic defects of the phalanges of the hand, Flexion contracture, Abnormal large intestine mo...	ORPHA:801
Cranioectodermal Dysplasia 3	2-3 toe syndactyly, Cirrhosis, Sagittal craniosynostosis, Widely spaced teeth, Stage 5 chronic ki...	OMIM:614099
Diamond-Blackfan Anemia 11	Absent thumb, Anemia, Forearm reduction defects, Neutropenia, Hypoplasia of the radius, Bicuspid ...	OMIM:614900
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Flexion contracture, Ventriculomegaly, Hydrocephalus, Dilated cardiomyop...	ORPHA:272
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morp...	ORPHA:2072
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Non-midline cleft lip, Conductive hearing impairment, Finger syndactyly, Ventricul...	ORPHA:1071
Mend Syndrome	2-3 toe syndactyly, Polydactyly, Crossed fused renal ectopia, High palate, Micrognathia, Hydrocep...	OMIM:300960
Doors Syndrome	Polyhydramnios, Short 5th finger, Optic atrophy, Wide nasal bridge, Short lingual frenulum, Spina...	ORPHA:79500
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Sensorineural hearing impairment, Optic atrophy, Hematuria, Microphthalmia, Bilateral cleft lip a...	ORPHA:1473
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Respiratory insufficiency, Ventriculomegaly, Wide mouth, Renal dysplasi...	OMIM:617260
Coccidioidomycosis	Exudative pleural effusion, Abnormality of the bladder, Pericarditis, Pneumonia, Abnormality of t...	ORPHA:228123
Cardiofaciocutaneous Syndrome 1	Micrognathia, Pectus excavatum, Hypertrophic cardiomyopathy, Deep palmar crease, Splenomegaly, Hy...	OMIM:115150
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Sensorineural hearing impairment, Elevated hepatic transaminas...	ORPHA:541423
Koolen-De Vries Syndrome	Ventriculomegaly, Abnormal cardiac septum morphology, Microdontia, Hip dislocation, Pectus excava...	ORPHA:96169
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Ventricular septal defect, Death in infancy, Interface hepatitis, Congenital p...	OMIM:243150
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy, Pleural effusion	ORPHA:411703
Pitt-Hopkins Syndrome	Gastroesophageal reflux, Tooth malposition, Tapered finger, Small hand, Thickened helices, Wide m...	ORPHA:2896
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Thoracic hypoplasia, Hypoplastic pubic bone, Short long bone, Flat acetabu...	OMIM:608728
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	High palate, Sensorineural hearing impairment, Deeply set eye, Micrognathia, Clinodactyly, Short ...	OMIM:609944
Marfan Syndrome	Ascending tubular aorta aneurysm, Flexion contracture, Micrognathia, Camptodactyly, Pulmonary art...	OMIM:154700
Kabuki Syndrome 2	Atrioventricular canal defect, Short 5th finger, Micrognathia, Hip dislocation, Cleft palate, Cup...	OMIM:300867
Maternal Uniparental Disomy Of Chromosome 6	Cleft upper lip, Ventriculomegaly, Slender long bone, Miscarriage, Inguinal hernia, Cleft palate	ORPHA:96181
Fanconi Anemia, Complementation Group G	Anemia, Abnormal thumb morphology, Microphthalmia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Microphthalmia, Syndromic 5	Anophthalmia, Joint laxity, Optic nerve hypoplasia, Microphthalmia, Cleft palate, Micropenis	OMIM:610125
Cardiofaciocutaneous Syndrome	Genu valgum, High palate, Long philtrum, Hydrocephalus, Abnormal heart valve morphology, Submucou...	ORPHA:1340
Warburg Micro Syndrome 3	Macrotia, Narrow palate, Flexion contracture, Optic atrophy, Micrognathia, Clinodactyly of the 5t...	OMIM:614222
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Micrognathia, Lissencephaly, Optic nerve hypoplasia, Metatarsus add...	ORPHA:300570
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy	ORPHA:1574
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Thin bony cortex, Broad phalanges of the hand, Narrow palate, Ventricul...	OMIM:277600
Brachytelephalangic Chondrodysplasia Punctata	Patent ductus arteriosus, Gastroesophageal reflux, Epiphyseal stippling of toe phalanges, Stippli...	ORPHA:79345
Chromosome Xq27.3-Q28 Duplication Syndrome	Thin vermilion border, Short foot, Deeply set eye, Small hand	OMIM:300869
Antley-Bixler Syndrome	Camptodactyly of finger, Long philtrum, Recurrent fractures, Craniosynostosis, Elbow ankylosis, N...	ORPHA:83
Monosomy 9P	Abnormal antihelix morphology, Micrognathia, Postaxial hand polydactyly, Abnormal rib morphology,...	ORPHA:261112
Perlman Syndrome	Nephroblastoma, Polyhydramnios, Everted upper lip vermilion, Wide nasal bridge, Renal hamartoma, ...	OMIM:267000
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Pericardial effusion, Abnormal tricuspid valve leaflet morphology, Anomalou...	ORPHA:555874
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Conical tooth, Encephalocele, Agenesis of corpus callosum, Hypertelorism, Microphthalmia, Low-set...	ORPHA:228390
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypoplasia of penis, Clinodactyly of the 5th finger, Tracheoesophageal...	ORPHA:3068
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Fat malabsorption, Jaundice, Extramedullary hematopoiesis, Elevated hepatic tran...	ORPHA:79303
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Hip dysplasia, Agenesis of corpus callosum, Hydrocephalus, Clinodactyly of the ...	ORPHA:457284
Intellectual Developmental Disorder, Autosomal Dominant 47	Gastroesophageal reflux, Widely-spaced incisors, Deeply set eye, Ventricular septal defect, Wide ...	OMIM:617635
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, High palate, Deep philtrum, Micrognathia, Short nose, Tented upper lip vermilion, Ab...	ORPHA:314655
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Hypertrophic cardiomyopathy, Respiratory distress	ORPHA:91130
Joubert Syndrome 35	Hydronephrosis, Multicystic kidney dysplasia, Molar tooth sign on MRI, Elongated superior cerebel...	OMIM:618161
Restrictive Dermopathy 2	Overtubulated long bones, Cyanosis, Hypoplastic facial bones, Respiratory distress, Microretrogna...	OMIM:619793
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Flexion contracture, Elevated hepatic transaminase, Short femur, Hepatic steatosis, ...	ORPHA:17
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Delayed eruption of teeth, Micrognathia, Secundum ...	OMIM:264090
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Patent ductus arteriosus, Abnormal sternum morphology, Ventricular septal defect, Short ribs, Sup...	ORPHA:2519
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Short phalanx of finger, Tapered finger, Delayed eruption of teeth, Bifi...	OMIM:612350
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hypoplasia of the thymus, Perianal abscess, Wide nasal bridge, Secundum atrial septal defect, Hep...	OMIM:612541
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Macrotia, Deeply set eye, Mandibular prognathia, Microphallus, Short philtrum, Thin upper lip ver...	OMIM:300486
D-Glyceric Aciduria	Patent ductus arteriosus, Aminoaciduria, Gastroesophageal reflux, Sensorineural hearing impairmen...	OMIM:220120
Chondrodysplasia-Disorder Of Sex Development Syndrome	Short phalanx of finger, Macrotia, Deeply set eye, Short metacarpal, Hypoplasia of the iris, Abno...	ORPHA:1422
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Iliac crest serration, Metaphyseal cupping, Deep philtrum, Short...	OMIM:613320
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Lymphedema, Micrognathia, P...	OMIM:153400
Otodental Syndrome	Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul...	ORPHA:2791
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Ventricular septal defect, Optic atrophy, Atri...	ORPHA:457193
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Microdontia, Micrognathia, Prominent antihelix, Short palm, Talipes eq...	OMIM:268400
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, 2-3 toe syndactyly, Dilatation of renal calices, Optic atrophy, Short hu...	ORPHA:3455
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Abnormal mandible morphology, Prominence of the zygomatic bone, Tapered ...	ORPHA:2215
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Anteriorly placed anus, Hypertelorism, Microphthalmia, Anal stenosis	OMIM:248450
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Hydrocephalus, Cerebellar atrophy, Protruding ear	OMIM:618302
Geroderma Osteodysplasticum	Increased susceptibility to fractures, Mandibular prognathia, Deeply set eye, Recurrent fractures...	OMIM:231070
Acropectorovertebral Dysplasia	Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Spina bifida, Synostosis of carp...	ORPHA:957
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Tapered finger, Ventriculomegaly, Hallux valgus, Renal dysplasia, Overlapping toe, Abnormal perio...	ORPHA:480880
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo...	OMIM:271665
Craniometadiaphyseal Dysplasia	Genu varum, Genu valgum, Mandibular prognathia, High palate, Wide anterior fontanel, Natal tooth,...	OMIM:269300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Vascular dilatation, Neutropenia, Renal cyst, Gout, Nephropathy, Focal segmental glomerul...	OMIM:617056
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Ce...	OMIM:304100
Fanconi Anemia, Complementation Group A	Absent thumb, Anemia, Complete duplication of thumb phalanx, Reticulocytopenia, Leukemia, Renal a...	OMIM:227650
Alpha-N-Acetylgalactosaminidase Deficiency	Cerebellar hypoplasia, Recurrent pneumonia, Oligosacchariduria, Vascular skin abnormality, Cardio...	ORPHA:3137
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Weakness of long finger extensor muscles, High palate, Exertional dyspnea, Triceps weak...	ORPHA:98913
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Clubbing of fingers, Oxygen de...	ORPHA:60025
Klippel-Trenaunay-Weber Syndrome	Lymphedema, Hand polydactyly, Hand oligodactyly, Syndactyly, Macrodactyly	OMIM:149000
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Short philtrum, Renal agenesis, Abnormal vagina morphology, Brachydacty...	ORPHA:247768
Saethre-Chotzen Syndrome	Hallux valgus, Toe syndactyly, Buphthalmos, Cleft of chin, Partial duplication of the distal phal...	OMIM:101400
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Hypertelorism, Micr...	OMIM:167730
Multiple Benign Circumferential Skin Creases On Limbs	Long philtrum, Micrognathia, Upper limb asymmetry, Hypospadias, External ear malformation, Edema,...	ORPHA:2505
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus, Thoracolumbar kyphosis	OMIM:236660
Acute Interstitial Pneumonia	Cyanosis, Nodular pattern on pulmonary HRCT, Bronchiectasis, Pericardial effusion, Subpleural hon...	ORPHA:79126
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Tapered finger, Cleft soft palate, Wide nasal bridge, Microdontia, Smooth philtrum, Cleft palate,...	OMIM:619950
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia	OMIM:245650
Frontal Encephalocele	Spina bifida, Hypertelorism, Hydrocephalus, Encephalocele	ORPHA:1931
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Long philtrum, Wide anterior fontanel, Abnormal cerebellar vermis morph...	ORPHA:357058
Cockayne Syndrome	Abnormal number of teeth, Optic atrophy, Atherosclerosis, Elevated hepatic transaminase, Hepatome...	ORPHA:191
Lethal Recessive Chondrodysplasia	Short long bone, Micrognathia, Flared elbow metaphyses, Macroglossia, Limb undergrowth, Micromeli...	ORPHA:1423
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Increased susceptibility to fractures, Abnormal lower limb bone morphology, ...	ORPHA:2788
Marshall Syndrome	Thick upper lip vermilion, Genu valgum, Sensorineural hearing impairment, High palate, Long philt...	ORPHA:560
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Crowded maxillary incisors, Hallux valgus, Hypoplasia of the maxilla, Cone...	ORPHA:397973
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Polyhydramnios, Wide nasal bridge, Thin vermilion border, Optic disc coloboma, Short metatarsal, ...	OMIM:617157
Papillorenal Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Sensorineural hearing impairment, Stage 5 ch...	OMIM:120330
Fanconi Anemia, Complementation Group E	Absent thumb, Anemia, Complete duplication of thumb phalanx, Reticulocytopenia, Leukemia, Renal a...	OMIM:600901
Pseudoachondroplasia	Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi...	OMIM:177170
3Q27.3 Microdeletion Syndrome	Small earlobe, Mandibular prognathia, Deeply set eye, Dental crowding, Short philtrum, Thin upper...	ORPHA:397695
Proteus Syndrome	Metatarsus valgus, Hallux valgus, Hip dislocation, Abnormality of the wrist, Long penis, Buphthal...	ORPHA:744
Surfactant Metabolism Dysfunction, Pulmonary, 1	Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ...	OMIM:265120
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Flexion contracture, Long philtrum, Ventriculomegaly, Widely spaced teeth, Short lingual frenulum...	OMIM:619479
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Cyanosis, Desquamative interstitial pneumonitis, Bronchiectasis, Decre...	OMIM:610913
Fucosidosis	Flexion contracture, Hernia, Coxa valga, Absent/hypoplastic paranasal sinuses, Thick lower lip ve...	OMIM:230000
Hereditary Methemoglobinemia	Cerebellar atrophy, Cyanosis, Lip discoloration, Exertional dyspnea	ORPHA:621
Mucopolysaccharidosis Type 3	Flexion contracture, Conductive hearing impairment, Ventriculomegaly, Abnormality of the middle e...	ORPHA:581
Meier-Gorlin Syndrome 5	Long philtrum, Patellar aplasia, Micrognathia, Slender long bone, Clinodactyly, Submucous cleft h...	OMIM:613805
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Dilatation of renal calices, Gastroesophageal reflux, Conductive hearing impairment, Sensorineura...	ORPHA:466943
Absence Of The Pulmonary Artery	Patent ductus arteriosus, Patent foramen ovale, Pedal edema, Truncus arteriosus, Abnormal cardiac...	ORPHA:980
Elsahy-Waters Syndrome	Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Phthisis bulb...	OMIM:211380
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Enamel hypoplasia, Optic atrophy, Wide nasal bridge, Microdon...	OMIM:618727
Atelosteogenesis, Type Iii	Radial bowing, Tombstone-shaped proximal phalanges, Flat acetabular roof, Talipes equinovarus, Mi...	OMIM:108721
Kagami-Ogata Syndrome	Diastasis recti, Coxa valga, Microtia, Micrognathia, Hepatoblastoma, Inguinal hernia, Pursed lips...	ORPHA:254519
Systemic Sclerosis	Osteolytic defects of the phalanges of the hand, Flexion contracture, Abnormal large intestine mo...	ORPHA:90291
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Short metacarpal, Optic atrophy, Bilateral sensorineural hearing impairment, Microdon...	OMIM:605282
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Unilateral microphthalmos, Anal atresia, Bilateral microphthalmos, Horsesh...	OMIM:619318
Crane-Heise Syndrome	Aplastic clavicle, Ventriculomegaly, Finger syndactyly, Toe syndactyly, Micrognathia, Hypoplasia ...	ORPHA:1512
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Micrognathia, Clinodactyly of...	ORPHA:2001
Gorlin-Chaudhry-Moss Syndrome	Patent ductus arteriosus, Conductive hearing impairment, Coronal craniosynostosis, Oligodontia, A...	ORPHA:2095
Renal Agenesis, Bilateral	Non-midline cleft lip, Renal agenesis, Pulmonary hypoplasia, Tracheoesophageal fistula, Abnormal ...	ORPHA:1848
Menke-Hennekam Syndrome 1	Flexion contracture, Everted upper lip vermilion, Micrognathia, Overlapping toe, Broad hallux, Pr...	OMIM:618332
Multiple Sulfatase Deficiency	Ventriculomegaly, Hydrocephalus, Hypoplastic vertebral bodies, Broad hallux, Hearing impairment, ...	OMIM:272200
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Ossifying fibroma of the jaw, Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irr...	ORPHA:457395
Pai Syndrome	Encephalocele, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Hypertelorism, C...	ORPHA:1993
Distal Monosomy 19P13.3	Pulmonary valve atresia, Conductive hearing impairment, Sensorineural hearing impairment, Ventric...	ORPHA:96129
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Elevated hepatic transaminase, Portal fibros...	ORPHA:264580
Branchioskeletogenital Syndrome	Bifid uvula, Amelia involving the lower limbs, Hypertelorism, Proptosis, Attached earlobe, Rootle...	ORPHA:1299
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ...	OMIM:609616
Spastic Paraplegia 16, X-Linked	Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary urgency, Hypoplasia of the m...	OMIM:300266
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, High palate, Hydrocephalus, Microretrognathia, Pectus excavatum, Narro...	OMIM:616294
Neuraminidase Deficiency	Sensorineural hearing impairment, Urinary excretion of sialylated oligosaccharides, Epiphyseal st...	OMIM:256550
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus...	ORPHA:280195
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Episodic respiratory distress, High palate, Sensorineural hearing impairment, Sudden ep...	ORPHA:98914
Congenital Myasthenic Syndrome	Cyanosis, Episodic respiratory distress, High palate, Sensorineural hearing impairment, Sudden ep...	ORPHA:590
Achondrogenesis, Type Ii	Horizontal ribs, Hypoplastic iliac wing, Long philtrum, Short tubular bones of the hand, Short ri...	OMIM:200610
Vertebral Hypersegmentation And Orofacial Anomalies	Micrognathia, Supernumerary ribs, Submucous cleft hard palate, Darwin tubercle of helix, Joint hy...	OMIM:619122
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormally large globe, Ventriculomegaly, Micrognathia, Hepatosplenomegaly, Alveolar ridge overgr...	ORPHA:1655
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Bifid uvula, Hydrocephalus, Cleft palate, Omphalocele, Unilatera...	ORPHA:2736
Lenz-Majewski Hyperostotic Dwarfism	Ventriculomegaly, Humeroradial synostosis, Micrognathia, Elbow flexion contracture, Spina bifida ...	OMIM:151050
Leopard Syndrome 1	Subvalvular aortic stenosis, Mitral valve prolapse, Hypertrophic cardiomyopathy, Complete atriove...	OMIM:151100
Autosomal Dominant Popliteal Pterygium Syndrome	Fibrous syngnathia, Non-midline cleft lip, Ambiguous genitalia, Lip pit, Finger syndactyly, Bifid...	ORPHA:1300
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, High palate, Long philtrum, Cutaneous finger syndactyly, Deeply set eye, Hip dyspl...	OMIM:616078
Hsd10 Disease, Infantile Type	Cyanosis, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Abnormality of the ...	ORPHA:391428
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Deeply set eye, Optic atrophy, Broad hallux, Broad thumb, Optic disc pallor	OMIM:614388
Joubert Syndrome 23	Polydactyly, Cerebellar dysplasia, Sensorineural hearing impairment, Apnea, Dysplastic corpus cal...	OMIM:616490
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat...	OMIM:276820
Eiken Syndrome	Pseudoepiphyses, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyseal ossification, Erupti...	OMIM:600002
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Glomerulopathy, Hypoplasia of the brainstem, Abnormality of the liver,...	ORPHA:2169
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypogonadism, Decreased testicular size, Hypoplasia of penis, Abnormal rib morphology, Abnormalit...	ORPHA:2234
Schwartz-Jampel Syndrome	Metatarsus valgus, Wrist flexion contracture, Coxa valga, Micrognathia, Pectus excavatum, Everted...	ORPHA:800
Micro Syndrome	Macrotia, High palate, Optic atrophy, Wide nasal bridge, Micrognathia, Hypoplasia of penis, Short...	ORPHA:2510
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Deeply set eye	OMIM:614254
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism, Cubitus valgus	ORPHA:1875
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	2-3 toe syndactyly, Anophthalmia, Long philtrum, Hypospadias, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Microvesicular hepatic steatosis, 3-Methylglutaconic aciduria, Increased CSF pro...	OMIM:203700
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density, Macroglossia, Hypoplasia ...	ORPHA:1798
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Rhizomelia, Short ...	OMIM:608940
Axenfeld-Rieger Syndrome	Wide nasal bridge, Aplasia/Hypoplasia of the iris, Microdontia, Hypodontia, Everted lower lip ver...	ORPHA:782
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Double outlet right ventricle, High palate, Ventricular septal defect, Long...	OMIM:616652
Igg4-Related Aortitis	Hypereosinophilia, Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, D...	ORPHA:449400
Lethal Kniest-Like Dysplasia	Anterior rib cupping, Wide anterior fontanel, Abnormality of the ischium, Short ribs, Mesomelic/r...	ORPHA:2347
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly, Hydrocephalus	OMIM:300886
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Pearson Syndrome	Elevated hepatic transaminase, Reticulocytosis, Lacticaciduria, Hepatic steatosis, Bone marrow hy...	ORPHA:699
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, Everted lower lip vermilion, Thin vermilion border, Optic...	OMIM:234100
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Abnormality of the pancreas, Narrow palate, Macrotia, Aplasia/Hypoplasia of the earlobes, Thicken...	ORPHA:1555
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Facial telangiectasia, Hallux valgus, Elbow flexion contracture, Camptod...	OMIM:602782
Transketolase Deficiency	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Increased level of rib...	ORPHA:488618
Ciliary Dyskinesia, Primary, 18	Abdominal situs ambiguus, Respiratory insufficiency due to defective ciliary clearance, Immotile ...	OMIM:614874
Crimean-Congo Hemorrhagic Fever	Hemoperitoneum, Pericardial effusion, Subdural hemorrhage, Parotitis, Hepatomegaly, Hematemesis, ...	ORPHA:99827
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate	OMIM:137215
Saul-Wilson Syndrome	Coxa valga, Ventriculomegaly, Micrognathia, Hypoplasia of proximal fibula, Progeroid facial appea...	OMIM:618150
Cornelia De Lange Syndrome	Conductive hearing impairment, Delayed eruption of teeth, Toe syndactyly, Micrognathia, Hip dislo...	ORPHA:199
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, Tarsal stippling, S...	OMIM:302960
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Abnormal renal medulla morpholog...	OMIM:609583
Semilobar Holoprosencephaly	Flexion contracture, Aspiration pneumonia, High palate, Sensorineural hearing impairment, Neural ...	ORPHA:220386
Alobar Holoprosencephaly	Flexion contracture, Aspiration pneumonia, High palate, Sensorineural hearing impairment, Neural ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Flexion contracture, Aspiration pneumonia, High palate, Sensorineural hearing impairment, Neural ...	ORPHA:93926
Lobar Holoprosencephaly	Flexion contracture, Aspiration pneumonia, High palate, Sensorineural hearing impairment, Neural ...	ORPHA:93924
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Bifid uvula, Optic nerve hypoplasia, Peripheral pulmonary artery stenosis, Smooth...	OMIM:617506
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Patent ductus arteriosus, Short long bone, Short ribs, Coarse metaphyseal trabecularization, Hype...	OMIM:618961
Desmosterolosis	Patent ductus arteriosus, Rhizomelia, Joint contracture of the hand, Ventriculomegaly, Bilateral ...	OMIM:602398
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Ventriculomegaly, Renal corticomedullary cysts, Hydrocephalus, Renal i...	OMIM:219730
Goldberg-Shprintzen Syndrome	Vesicoureteral reflux, Tapered finger, Small hand, Ventricular septal defect, Wide nasal bridge, ...	OMIM:609460
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Argininosuccinic aciduria, Elevated circulating alanine aminotransferase concen...	OMIM:603471
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Tapered finger, Hip dislocation, Hepatosplenomegaly, Everted lower lip vermil...	OMIM:301066
Bardet-Biedl Syndrome 3	Renal hypoplasia, External genital hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Cutis Marmorata Telangiectatica Congenita	Patent ductus arteriosus, Abnormality of the upper limb, Multicystic kidney dysplasia, Finger syn...	ORPHA:1556
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Wide nasal bridge, Elevated hepatic transaminase, Hepatic steatosis, Smooth philtrum, Bilateral s...	OMIM:619475
Phocomelia, Schinzel Type	Meningocele, Humeroradial synostosis, Micrognathia, Cleft palate, Ectrodactyly, Aplasia/Hypoplasi...	ORPHA:2879
Lethal Congenital Contracture Syndrome 9	Ulnar deviation of the hand or of fingers of the hand, Short umbilical cord, Micrognathia, Pulmon...	OMIM:616503
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Hydronephrosis, Macrotia, Cerebellar hypoplasia, Abnormality of the kidn...	ORPHA:2273
Pelvis-Shoulder Dysplasia	Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C...	OMIM:169550
Pmm2-Cdg	Multiple joint contractures, Pericardial effusion, Impaired neutrophil chemotaxis, Elevated hepat...	ORPHA:79318
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Optic atrophy, Long philtrum, Lymphedema, Wide nasal bridge, Atrial septal defect, ...	ORPHA:2526
Lathosterolosis	Thick upper lip vermilion, Myelomeningocele, Bilobate gallbladder, High palate, Long philtrum, To...	OMIM:607330
Porphyria Cutanea Tarda	Cutaneous photosensitivity, Porphyrinuria, Periportal fibrosis, Stage 5 chronic kidney disease, C...	ORPHA:101330
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Costello Syndrome	Respiratory insufficiency, Pneumothorax, Ventriculomegaly, Micrognathia, Tracheomalacia, Hypertro...	OMIM:218040
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Enamel hypoplasia, High palate, Ankyloglossia, Mitral valve prolapse, Unilateral microphthalmos, ...	OMIM:618874
Tremor-Ataxia-Central Hypomyelination Syndrome	Deeply set eye, Optic atrophy, Delayed eruption of teeth, Hypodontia, Oligodontia, Autonomic blad...	ORPHA:447896
Hemochromatosis Type 2	Elevated hepatic transaminase, Abnormality of endocrine pancreas physiology, Dilated cardiomyopat...	ORPHA:79230
Hanac Syndrome	Renal insufficiency, Hematuria, Multiple renal cysts	ORPHA:73229
Frontometaphyseal Dysplasia 2	Conductive hearing impairment, Wide nasal bridge, Bifid uvula, Camptodactyly, Elbow contracture, ...	OMIM:617137
Fanconi Anemia, Complementation Group C	Absent thumb, Flexion contracture, Complete duplication of thumb phalanx, Ventricular septal defe...	OMIM:227645
Congenital Total Pulmonary Venous Return Anomaly	Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec...	ORPHA:99125
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Skin Creases, Congenital Symmetric Circumferential, 1	Cerebellar vermis atrophy, High palate, Long philtrum, Low-set ears, Micrognathia, Hypertelorism,...	OMIM:156610
Rabson-Mendenhall Syndrome	Polydactyly, Mandibular prognathia, High palate, Ventricular septal defect, Furrowed tongue, Prec...	ORPHA:769
Lymphedema-Distichiasis Syndrome	Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Patent ductus arteriosus, Cleft ...	ORPHA:33001
Mirizzi Syndrome	Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Cholelithiasis, Abnormality of t...	ORPHA:521219
Vascular Ehlers-Danlos Syndrome	Gingivitis, Ascending tubular aorta aneurysm, Microdontia, Abnormal oral frenulum morphology, Ost...	ORPHA:286
Skin Creases, Congenital Symmetric Circumferential, 2	2-3 toe syndactyly, Tapered finger, Wide nasal bridge, Microdontia, Micrognathia, Uplifted earlob...	OMIM:616734
Familial Visceral Myopathy	Camptodactyly of finger, Vesicoureteral reflux, Arachnodactyly, Hydroureter, Micrognathia, Agangl...	ORPHA:2604
Meier-Gorlin Syndrome 4	Patellar aplasia, Thick lower lip vermilion, Micrognathia, Slender long bone, Emphysema, Hypoplas...	OMIM:613804
Myoclonic-Astatic Epilepsy	Long philtrum, Wide mouth, Wide nasal bridge, Thick lower lip vermilion, Syndactyly, Thin upper l...	ORPHA:1942
Triokinase And Fmn Cyclase Deficiency Syndrome	Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea...	OMIM:618805
Chilton-Okur-Chung Neurodevelopmental Syndrome	Tapered finger, Micrognathia, Smooth philtrum, Slender finger, Uplifted earlobe, Patent foramen o...	OMIM:619841
Primary Sclerosing Cholangitis	Spider hemangioma, Hepatocellular carcinoma, Elevated hepatic transaminase, Cholangiocarcinoma, H...	ORPHA:171
Congenital Diaphragmatic Hernia	Intestinal malrotation, Pulmonary hypoplasia, Prominent sternum	ORPHA:2140
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Villous atrophy, Jaundice, Ele...	ORPHA:567983
Marshall Syndrome	Thick upper lip vermilion, Coxa valga, Micrognathia, Irregular distal femoral epiphysis, Bifid uv...	OMIM:154780
Ablepharon-Macrostomia Syndrome	Short upper lip, Ventral hernia, Microtia, third degree, Short metacarpal, Wide mouth, Toe syndac...	OMIM:200110
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, High palate, Pectus excavatum, Hypoplasia of the maxilla, Narrow chest, Pe...	OMIM:300676
Microphthalmia-Brain Atrophy Syndrome	Cerebellar vermis atrophy, Lateral ventricle dilatation, Bilateral microphthalmos, Abnormal pons ...	ORPHA:77299
Mucopolysaccharidosis Type 6	Splenomegaly, Genu valgum, Thick lower lip vermilion, Macroglossia, Epiphyseal dysplasia, Sinusit...	ORPHA:583
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormality of the bladder, Dehydration, Mitten deformity, Multicystic kidney...	ORPHA:79404
Malan Syndrome	Retrognathia, Mandibular prognathia, Coxa valga, Ventriculomegaly, Advanced eruption of teeth, Hy...	OMIM:614753
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short phalanx of finger, Short toe, Wide anterior fontanel, Gingival hyperkeratosis, Micrognathia...	OMIM:225410
Hypotonia, Ataxia, And Delayed Development Syndrome	Small earlobe, Vesicoureteral reflux, Thick upper lip vermilion, Gastroesophageal reflux, Tapered...	OMIM:617330
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Bilateral conductive hearing impairment, Tapered finger, Overlapping toe, Cleft palate, Hearing i...	ORPHA:488642
Mucopolysaccharidosis, Type X	Genu valgum, Broad ribs, Long philtrum, Widely spaced teeth, Broad clavicles, Hip dysplasia, Derm...	OMIM:619698
Nanophthalmos 4	Optic disc drusen, Microphthalmia	OMIM:615972
Cole-Carpenter Syndrome	Crumpled long bones, Delayed eruption of teeth, Micrognathia, Communicating hydrocephalus, Abnorm...	ORPHA:2050
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Flexion contracture, Lissencephaly, Optic nerve hypoplasia, Narrow mouth, Microphthalmia, Cerebel...	OMIM:614833
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Limitation of joint mobility, Arthrogryposis multiplex congenita, Cleft pa...	ORPHA:1484
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Non-midline cleft lip, Hip dislocation, Tooth agenesis, Severe sensorineural hearing...	ORPHA:2003
Trichothiodystrophy 3, Photosensitive	Natal tooth, Pyloric stenosis, Eclabion, Lymphopenia, Meckel diverticulum, Microphthalmia, Cariou...	OMIM:616395
Orofaciodigital Syndrome Xvi	Retrognathia, Gray matter heterotopia, Ventriculomegaly, Molar tooth sign on MRI, Postaxial foot ...	OMIM:617563
Proteus-Like Syndrome	Mandibular prognathia, Hydrocephalus, Communicating hydrocephalus, Polycystic ovaries, Open bite,...	ORPHA:2969
Criss-Cross Heart	Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,...	ORPHA:1461
Nasu-Hakola Disease	Hydrocephalus, Abnormal epiphysis morphology, Abnormal adipose tissue morphology, Ventriculomegaly	ORPHA:2770
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Cirrhosis, Sensorineural hearing impairment, Optic atrophy, Wide nasal bridge, ...	OMIM:601539
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Genu valgum, Bowing of the long bones, Thoracic hypoplasia, Thoracic s...	OMIM:613848
Cleidocranial Dysplasia 2	Genu valgum, Aplastic clavicle, Wide anterior fontanel, Delayed eruption of primary teeth, Coxa v...	OMIM:620099
Loeys-Dietz Syndrome 5	Cleft soft palate, Bifid uvula, Ascending aortic dissection, Smooth philtrum, Scapular winging, C...	OMIM:615582
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip, Microphthalmia, Agenesis of corpus callosum	OMIM:614402
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Supernumerary tooth, Microphthalmia, Protruding ear, Abn...	ORPHA:627
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia, Pulmonary fibrosis, Recurrent respiratory infections	ORPHA:2111
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip subluxation, Coxa valga, Hallux valgus, Advanced ossification of carpal bones, Large iliac wi...	OMIM:271640
Cooper-Jabs Syndrome	Camptodactyly of finger, Ventricular septal defect, Missing ribs, Anteriorly placed anus, Proxima...	ORPHA:1488
Stuve-Wiedemann Syndrome 2	Pulmonary arterial hypertension, Short long bone, Camptodactyly, Respiratory distress, Stillbirth...	OMIM:619751
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Broad femoral neck, High palate, Wide anterior fontanel, Coxa valga, Sh...	ORPHA:85184
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst, Hypertelorism, Epiphyseal stippling, Hepatomegaly	OMIM:614862
Say-Barber-Miller Syndrome	Knee flexion contracture, Abnormal T cell morphology, Macrotia, Patellar hypoplasia, Ulnar deviat...	ORPHA:3132
Combined Oxidative Phosphorylation Deficiency 33	Sensorineural hearing impairment, Nephrotic syndrome, Left ventricular hypertrophy, Elevated hepa...	OMIM:617713
Multiple Epiphyseal Dysplasia Type 1	Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm...	ORPHA:93308
Desbuquois Dysplasia 2	Short phalanx of finger, Coxa valga, Advanced ossification of carpal bones, Bifid uvula, Hip disl...	OMIM:615777
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enamel hypoplasia, Macrotia, Deeply set eye, Wide mouth, Secundum atrial septal defect, Bifid uvu...	OMIM:615802
Opsismodysplasia	Renal phosphate wasting, Bell-shaped thorax, Short phalanx of finger, Metaphyseal cupping, Anteri...	OMIM:258480
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Vesicoureteral reflux, Deeply set eye, Wide mouth, Tracheomalacia, Protruding tongue, Low-set ear...	OMIM:618797
Mowat-Wilson Syndrome	Wide nasal bridge, Delayed eruption of teeth, Pulmonary artery sling, Pulmonary artery stenosis, ...	OMIM:235730
Cyanosis, Transient Neonatal	Cyanosis, Jaundice, Hepatomegaly	OMIM:613977
Developmental And Epileptic Encephalopathy 1	Micropenis, Dyspnea, Microphthalmia, Ventriculomegaly	OMIM:308350
Dyskeratosis Congenita	Neoplasm of the pancreas, Taurodontia, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni...	ORPHA:1775
Cleft Lip/Palate	Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera...	ORPHA:199306
Nanophthalmos	Microphthalmia	ORPHA:35612
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly, Dilatation of the renal pelvis	OMIM:617120
Monosomy 22Q13.3	Vesicoureteral reflux, Dental malocclusion, Macrotia, Gastroesophageal reflux, Deeply set eye, Wi...	ORPHA:48652
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Osteopetrosis, Autosomal Recessive 5	Hip subluxation, Hepatic failure, Long philtrum, Ventriculomegaly, Micrognathia, Hydrocephalus, H...	OMIM:259720
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Sprengel anomaly, Abnormal rib morphology, ...	OMIM:118100
Epidermal Nevus Syndrome	Weakness of long finger extensor muscles, Polycystic kidney dysplasia	ORPHA:35125
Three M Syndrome 2	Dental malocclusion, Short thorax, High palate, Long philtrum, Short 5th finger, Delayed eruption...	OMIM:612921
Non-Syndromic Posterior Hypospadias	Urethral diverticulum, Ventral shortening of foreskin, Congenital diaphragmatic hernia, Micropeni...	ORPHA:95706
Cryofibrinogenemia, Familial Primary	Hematuria, Transient nephrotic syndrome, Acrocyanosis	OMIM:123540
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Small hand, Calvarial osteosclerosis, Stenosis of the medullary cavity of the lon...	ORPHA:93324
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft lip, Single transverse palmar crease, Hypertelorism,...	OMIM:616788
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Short phalanx of finger, Flexion contracture, Short 5th metacarpal, Pierre-Robin sequence, Sensor...	OMIM:215150
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Low-set ears, Bilateral cleft lip	OMIM:616994
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Elevated...	ORPHA:64743
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Bifid uvula, Hypoplasia of penis, Submucous cleft hard palate, Failure of eruption ...	ORPHA:2250
Peutz-Jeghers Syndrome	Bladder polyp, Oral melanotic macule, Labial melanotic macule, Intussusception, Uterine neoplasm,...	OMIM:175200
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Respiratory failure, Pneumothorax, Elevated hepatic transaminase, Re...	ORPHA:445038
Osteopetrosis, Autosomal Recessive 2	Genu valgum, Mandibular prognathia, Hydrocephalus, Hepatosplenomegaly, Diaphyseal sclerosis, Mand...	OMIM:259710
Neuroocular Syndrome	Tapered finger, Torus palatinus, Lens coloboma, Scapular winging, Deep palmar crease, Cupped ear,...	OMIM:619539
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of ...	ORPHA:1836
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Hepatocellular carcinoma, Elevated hepatic t...	ORPHA:79240
Congenital Myopathy 8	Respiratory insufficiency, Cardiomegaly, High palate, Reduced vital capacity	OMIM:618654
Dubowitz Syndrome	Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Acute lymphoblastic leukemia, Aplasti...	OMIM:223370
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, High palate, Long philtrum, Optic atrophy, Palmoplantar hyperhi...	OMIM:617527
Frontonasal Dysplasia 3	Wide nasal bridge, Hypertelorism, Microphthalmia, Low-set ears, Posteriorly rotated ears, Cleft p...	OMIM:613456
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Gingivitis, Abnormal pigmentation of the oral mucosa, Abnormal preputium...	ORPHA:2907
Culler-Jones Syndrome	Cleft upper lip, Cleft palate, Micropenis, Postaxial polydactyly, Hypotelorism	OMIM:615849
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Wide mouth, Microtia, Toe syndactyly, Microdontia, Excessive wrinkled sk...	ORPHA:920
Wt Limb-Blood Syndrome	Retrognathia, Ulnar deviation of thumb, Absent thumb, Ulnar deviation of the 3rd finger, Short ph...	OMIM:194350
Radial Aplasia, X-Linked	Anal atresia, Penile hypospadias, Hydrocephalus, Absent radius	OMIM:312190
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology, Slender long bone, Abnormal palate morphology, Abnormal pelvic girdle bo...	ORPHA:1506
Wolcott-Rallison Syndrome	Double outlet right ventricle, Abnormality of the liver, Neutropenia, Lymphocytosis, Jaundice, El...	ORPHA:1667
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Long philtrum, Optic atrophy, Deep philtrum, Thick lower lip vermilion, Ly...	OMIM:152950
Hallermann-Streiff Syndrome	Small hand, Natal tooth, Short ribs, High, narrow palate, Recurrent fractures, Micrognathia, Clin...	ORPHA:2108
Xylt1-Cdg	Coxa valga, Long philtrum, Short femoral neck, Short long bone, Clinodactyly, Flared metaphysis, ...	ORPHA:370930
Autosomal Dominant Robinow Syndrome	Camptodactyly of finger, Coxa valga, Bifid tongue, Wide nasal bridge, Micrognathia, Hip dislocati...	ORPHA:3107
Dyggve-Melchior-Clausen Disease	Hypoplastic acetabulae, Limited elbow extension, Genu valgum, Short thorax, Recurrent upper respi...	ORPHA:239
Hypophosphatasia	Emphysema, Narrow chest, Abnormal metaphysis morphology, Bowing of the long bones, Abnormal rib m...	ORPHA:436
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L...	OMIM:610910
Aspergillosis	Abnormal long bone morphology, Bronchiectasis, Hepatitis, Pleuritis, Abnormality of the kidney, P...	ORPHA:1163
Gm1 Gangliosidosis Type 1	Broad long bone diaphyses, Aspiration pneumonia, Long philtrum, Pectus carinatum, Short long bone...	ORPHA:79255
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Thick upper lip vermilion, Short phalanx of finger, Thoracic hypoplasia, Rhizo-meso-acromelic lim...	OMIM:611717
Mpi-Cdg	Decreased liver function, Hepatic fibrosis, Portal hypertension, Hepatomegaly	ORPHA:79319
Blackfan-Diamond Anemia	Acute myeloid leukemia, Absent thumb, Cleft soft palate, Wide nasal bridge, Micrognathia, Nonimmu...	ORPHA:124
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Coronal craniosynostosis, Micrognathia, Atrial septal defect, Hypoplasi...	OMIM:241310
Multiple Sulfatase Deficiency	Sensorineural hearing impairment, Hydrocephalus, Broad thumb, Mucopolysacchariduria, Smooth philt...	ORPHA:585
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Abnormal brainstem MRI signal intensity, Left ventricular hypertrophy, Hypertrophic car...	ORPHA:444013
Microphthalmia, Isolated 5	Cystoid macular edema, Optic disc pallor, Optic disc drusen, Microphthalmia	OMIM:611040
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Sensorineural hearing impairment, Deeply set eye, HbH hemoglobin, Hypertelorism, Low-set ears, Pr...	ORPHA:423479
Satoyoshi Syndrome	Genu varum, Tapered finger, Abnormality of the humerus, Abnormality of the ovary, Abnormality of ...	ORPHA:3130
Cryptogenic Organizing Pneumonia	Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect...	ORPHA:1302
Central Precocious Puberty	Premature thelarche, Increased circulating gonadotropin level, Hydrocephalus, Isosexual precociou...	ORPHA:759
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Sensorineural hearing impairment, Ventricular septal defect, Renal tubul...	OMIM:619575
Aortic Arch Interruption	Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Abnormal ascending...	ORPHA:2299
Osteopetrosis, Autosomal Recessive 8	Anemia, Optic atrophy, Unilateral microphthalmos, Hepatomegaly, Thrombocytopenia, Osteopetrosis, ...	OMIM:615085
Hypertelorism-Microtia-Facial Clefting Syndrome	Conductive hearing impairment, Crossed fused renal ectopia, Microtia, Median cleft lip and palate...	ORPHA:2213
Birt-Hogg-Dube Syndrome	Large intestinal polyposis, Renal cell carcinoma, Renal neoplasm, Multiple pulmonary cysts, Renal...	OMIM:135150
Coach Syndrome 3	Renal tubular atrophy, Renal interstitial fibrosis, Molar tooth sign on MRI, Stage 5 chronic kidn...	OMIM:619113
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Renal steatosis, Cyanosis, Elevated circulating alanine aminotransferase concentration, Hepatic f...	OMIM:261680
Acromesomelic Dysplasia 2A	Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac...	OMIM:200700
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Hypoplastic pubic bone, Short long bone, Micrognathia, Delayed ossification of carpal bones, Abno...	ORPHA:93346
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Deeply set eye, Hip dislocation	OMIM:619059
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Trichothiodystrophy	Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Ventriculomegaly, Diffus...	ORPHA:33364
Gitelman Syndrome	Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Pericardial effusion,...	ORPHA:358
Multiple Osteochondromas	Pneumothorax, Abnormal carpal morphology, Coxa valga, Limb undergrowth, Intestinal obstruction, G...	ORPHA:321
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short phalanx of finger, Flexion contracture, Acroosteolysis of distal phalanges (feet), Microgna...	OMIM:608612
Cleidocranial Dysplasia 1	Wide nasal bridge, Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Increased...	OMIM:119600
Microphthalmia, Syndromic 13	Widely-spaced incisors, Anteverted ears, Microphthalmia	OMIM:300915
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Large iliac wing, Aplasia/hypoplasia of the femur, Micrognathia, Bifid uvula, Abnormal distal pha...	ORPHA:2636
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat...	ORPHA:562639
Alg12-Cdg	Ventriculomegaly, Micrognathia, Camptodactyly, Elevated hepatic transaminase, Biventricular hyper...	ORPHA:79324
Holoprosencephaly 1	Ethmocephaly, Cerebellar hypoplasia, Median cleft lip and palate, Alobar holoprosencephaly, Micro...	OMIM:236100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Missing r...	ORPHA:2759
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Bifid tongue, Broad hallux, Duplication of phalanx of hallux, Postaxial ...	ORPHA:434179
Cantú Syndrome	Patent ductus arteriosus, Coxa valga, Long philtrum, Wide mouth, Abnormal metaphysis morphology, ...	ORPHA:1517
Bardet-Biedl Syndrome 12	Polydactyly, Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Postaxial foot ...	OMIM:615989
Osteopetrosis, Autosomal Recessive 1	Coxa vara, Calvarial osteosclerosis, Hydrocephalus, Flared metaphysis, Hearing impairment, Hepato...	OMIM:259700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Large placenta, Omphalocel...	ORPHA:254534
X-Linked Intellectual Disability, Nascimento Type	Overlapping toe, Abnormal vena cava morphology, Peripheral pulmonary artery stenosis, Bilateral t...	ORPHA:163956
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Polyhydramnios, Deeply set eye	ORPHA:521390
Cowden Syndrome 6	Colonic diverticula, High palate, Micrognathia, Hydrocele testis, Palmoplantar hyperkeratosis, Pe...	OMIM:615109
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flexion contracture, Tapered finger, Ventriculomegaly, Camptodactyly, Overlapping toe, Smooth phi...	ORPHA:487796
Neurocardiofaciodigital Syndrome	Patent ductus arteriosus, Polydactyly, Vesicoureteral reflux, Retrognathia, High palate, Atrial s...	OMIM:619869
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Hydrocephalus, Anal atresia, Atrial septa...	OMIM:309801
Webb-Dattani Syndrome	Retrognathia, Gastroesophageal reflux, Vesicoureteral reflux, Deeply set eye, Neurogenic bladder,...	OMIM:615926
Cowden Syndrome 5	Colonic diverticula, High palate, Micrognathia, Hydrocele testis, Palmoplantar hyperkeratosis, Pe...	OMIM:615108
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Anencephaly, Congenital diaphragmatic hernia, Sirenomelia, C...	ORPHA:63260
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ...	OMIM:251880
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Beck-Fahrner Syndrome	Extra-axial cerebrospinal fluid accumulation, High palate, Long philtrum, Ventricular septal defe...	OMIM:618798
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Genu valgum, Metaphyseal irregularity, Genu varum, Short foot, Coxa vara, ...	OMIM:250420
Ring Chromosome 13 Syndrome	Urogenital sinus anomaly, Aplasia/hypoplasia involving bones of the hand, Hypoplasia of the gallb...	ORPHA:96176
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Hypertelorism, Tooth agenesis, Microphthalmia, Cleft palate	ORPHA:1135
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	Widely-spaced incisors, Optic atrophy, Hypoplasia of the maxilla, Thin upper lip vermilion, Smoot...	OMIM:618737
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Cerebellar hemisphere hypoplasia, Multicystic kidney dysplasia, Gray matter het...	OMIM:615287
Bangstad Syndrome	Deviation of finger, Polycystic ovaries, Deeply set eye, Abnormality of the dentition	ORPHA:1227
Fibrous Dysplasia Of Bone	Abnormal mandible morphology, Hyperpituitarism, Abnormal zygomatic bone morphology, Testicular ne...	ORPHA:249
Nephronophthisis 3	Renal tubular atrophy, Hepatic fibrosis, Stage 5 chronic kidney disease, Renal corticomedullary c...	OMIM:604387
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Extra-axial cerebrospinal fluid accumulation, Hand clenching, Cyanosis, Ventriculomegaly, Apnea, ...	OMIM:619580
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, High palate, Abnormal brainstem morphology, Abnormal renal ...	ORPHA:2720
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Oligohydramnios, Renal ...	ORPHA:255249
Kabuki Syndrome 1	Premature thelarche, Short 5th finger, Recurrent aspiration pneumonia, Lateral ventricle dilatati...	OMIM:147920
Eosinophilic Granulomatosis With Polyangiitis	Endocarditis, Abnormal pericardium morphology, Abnormal pleura morphology, Glomerulopathy, Tubulo...	ORPHA:183
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Pulmonary edema, Hypermagnesiuria, Pericardial effusion, Dilat...	ORPHA:73224
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Ventriculomegaly, Pineal cyst, Pectus excavatum, Everted lower lip vermilion,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Ventriculomegaly, Pineal cyst, Pectus excavatum, Everted lower lip vermilion,...	ORPHA:363958
Idiopathic Pulmonary Hemosiderosis	Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Reticular pat...	ORPHA:99931
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Macrotia, High palate, Mucosal telangiectasiae, Thin metatarsal cortices, Slender long bone, Smal...	ORPHA:2463
Pseudo-Torch Syndrome 2	Patent ductus arteriosus, Ventriculomegaly, Lateral ventricle dilatation, Secundum atrial septal ...	OMIM:617397
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Narrow chest, Premature loss of primary teeth, Hydrocephalus, Abnormal...	ORPHA:667
Xfe Progeroid Syndrome	Enamel hypoplasia, Deeply set eye, Optic atrophy, Elevated hepatic transaminase, Proteinuria, Pre...	OMIM:610965
Chromosome 10Q22.3-Q23.2 Deletion Syndrome	Deeply set eye, Thin upper lip vermilion, Hypertelorism, Smooth philtrum, Arachnodactyly	OMIM:612242
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the pancreas, Abnormality of ...	ORPHA:93111
Yunis-Varon Syndrome	Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe syndactyly, Micrognathia, Hypopl...	OMIM:216340
Camptodactyly Syndrome, Guadalajara Type 3	Retrognathia, Broad femoral neck, Small hand, Distal shortening of limbs, Spina bifida occulta, T...	ORPHA:488434
Intellectual Developmental Disorder, Autosomal Dominant 39	Bilateral talipes equinovarus, Hydrocephalus, Wide mouth	OMIM:616521
Loeys-Dietz Syndrome 1	Micrognathia, Bifid uvula, Camptodactyly, Ascending aortic dissection, Bicuspid pulmonary valve, ...	OMIM:609192
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Mosaic Trisomy 20	Retrognathia, Ventricular septal defect, Abnormal mitral valve morphology, Craniofacial asymmetry...	ORPHA:1724
Cerebellofaciodental Syndrome	Dental malocclusion, Genu valgum, Tapered finger, Macrodontia of permanent maxillary central inci...	OMIM:616202
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Increased size of the clitoris, Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Ambi...	ORPHA:2975
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, 3-hydroxydicarboxylic aciduria, Hepatic failure, Respiratory failure, ...	OMIM:252010
Kenny-Caffey Syndrome, Type 1	Thin clavicles, Short foot, Calvarial osteosclerosis, Small hand, Slender long bone, Long clavicl...	OMIM:244460
Crouzon Syndrome With Acanthosis Nigricans	Hypertelorism, Hydrocephalus, Proptosis	OMIM:612247
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Vesicoureteral reflux, Hepatic fibrosis, Elevated hepatic transaminase, Dilated cardiomyopathy, C...	OMIM:615895
Trichorhinophalangeal Syndrome, Type Iii	Short phalanx of finger, Long philtrum, Short metacarpal, Avascular necrosis of the capital femor...	OMIM:190351
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Short thorax, Aplastic clavicle, Wide anterior fontanel, Ectopic anus, Wide mouth, Micrognathia, ...	ORPHA:85199
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip, Absent radius	OMIM:179400
Adnp Syndrome	2-3 toe syndactyly, Polydactyly, Broad hallux, Smooth philtrum, Protruding ear, Umbilical hernia,...	ORPHA:404448
Pontine Tegmental Cap Dysplasia	Rib fusion	OMIM:614688
Dental Anomalies And Short Stature	Mandibular prognathia, Widely spaced teeth, Microdontia, Mitral valve prolapse, Oligodontia, Hypo...	OMIM:601216
Autoimmune Polyendocrinopathy Type 4	Tubulointerstitial nephritis, Thymoma, Biliary cirrhosis, Atrophic gastritis, Leukopenia, Non-cas...	ORPHA:227990
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Lip pit, Tapered finger, Mandibular prognathia, Hypodontia, Large earlob...	ORPHA:1236
Citrullinemia Type Ii	Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic steatosis, Hep...	ORPHA:247585
16P13.2 Microdeletion Syndrome	Dilated third ventricle, Ventriculomegaly, Small hand, Hypogonadism, Hip dysplasia, Hydrocephalus...	ORPHA:500055
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Cleft upper lip, Ectodermal dysplasia, Tetraamelia, Abnormal pinna morphology, Abn...	OMIM:273400
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Renal duplication, Conductive hearing impairment, Anemia, Ventricular s...	OMIM:613309
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Biliary tract abnormality, Multiple glomerular cysts, Nephrolithia...	OMIM:137920
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Contractures of the large joints, Mandibular prognathia, Macrotia, Abnormal atriove...	ORPHA:324410
Isolated Right Ventricular Hypoplasia	Cyanosis, Patent foramen ovale, Hypoxemia, Atrial septal defect, Clubbing, Muscular ventricular s...	ORPHA:439
17Q11 Microdeletion Syndrome	Thickened cortex of long bones, Hypertrophic cardiomyopathy, Osteolysis, Abnormal internal caroti...	ORPHA:97685
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Urinary incontinence, Deeply set eye, Optic atrophy, Widely spaced teeth, Micrognathia, Hypertelo...	OMIM:617193
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Death in infancy, Hydroureter, Neoplasm of the heart, Megacystis, O...	ORPHA:2241
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Sensorineural hearing impairment, Ventriculomegaly, Macular hypoplasia, ...	OMIM:615219
Pediatric Hepatocellular Carcinoma	Hepatic necrosis, Hepatic fibrosis, Portal vein thrombosis, Hepatomegaly	ORPHA:33402
Tuberous Sclerosis 1	Dental enamel pits, Precocious puberty, Adenoma sebaceum, Renal angiomyolipoma, Renal cell carcin...	OMIM:191100
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate	OMIM:119300
Congenital Anomalies Of Kidney And Urinary Tract 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr...	OMIM:618270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Simplified gyral pattern, Microphthalmia, Pachygyria, Cerebellar hypoplasia	OMIM:251270
Trichohepatoneurodevelopmental Syndrome	Recurrent pancreatitis, Exocrine pancreatic insufficiency, Microdontia, Hip dislocation, Pectus e...	OMIM:618268
Eiken Syndrome	Short phalanx of finger, Short toe, Metaphyseal irregularity, Short foot, Abnormal fingertip morp...	ORPHA:79106
Arthrogryposis, Distal, Type 3	Camptodactyly of finger, Knee flexion contracture, Distal arthrogryposis, Short phalanx of finger...	OMIM:114300
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo...	OMIM:620135
Fixed Subaortic Stenosis	Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia...	ORPHA:3092
Carnitine Deficiency, Systemic Primary	Endocardial fibroelastosis, Elevated circulating alanine aminotransferase concentration, Microves...	OMIM:212140
Otospondylomegaepiphyseal Dysplasia	Short phalanx of finger, Abnormal long bone morphology, Sensorineural hearing impairment, Short m...	ORPHA:1427
Plasminogen Deficiency, Type I	Gingivitis, Duodenal ulcer, Periodontitis, Ventriculomegaly, Gingival overgrowth, Hydrocephalus, ...	OMIM:217090
Autoimmune Polyendocrinopathy Type 3	Tubulointerstitial nephritis, Thymoma, Biliary cirrhosis, Atrophic gastritis, Leukopenia, Non-cas...	ORPHA:227982
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Coffin-Lowry Syndrome	Coxa valga, Tapered finger, Everted lower lip vermilion, Hearing impairment, Narrow palate, Hyper...	OMIM:303600
Congenitally Corrected Transposition Of The Great Arteries	Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo...	ORPHA:216694
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L...	OMIM:118651
Cardiac Valvular Dysplasia 1	Hypoplasia of right ventricle, Patent foramen ovale, Left aortic arch with cervical origin of the...	OMIM:212093
Xeroderma Pigmentosum, Complementation Group G	Cutaneous photosensitivity, Microphthalmia	OMIM:278780
Osteoglophonic Dysplasia	Short phalanx of finger, Limb undergrowth, Short palm, Pseudoarthrosis, Eruption failure, Broad p...	OMIM:166250
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus	ORPHA:73256
Microtia	Hypoplastic helices, Anotia, Microtia, Holoprosencephaly, Abnormal pinna morphology, Atresia of t...	ORPHA:83463
Incontinentia Pigmenti	Camptodactyly of finger, Hearing abnormality, Abnormal hand morphology, Finger syndactyly, Delaye...	ORPHA:464
Crouzon Syndrome	Sagittal craniosynostosis, Conductive hearing impairment, High palate, Mandibular prognathia, Opt...	OMIM:123500
Frontofacionasal Dysplasia	Cleft upper lip, Hypoplasia of the frontal bone, Cranium bifidum occultum, Bifid uvula, Short nos...	OMIM:229400
L1 Syndrome	Adducted thumb, Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Bladder Exstrophy	Vesicoureteral reflux, Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Ingui...	ORPHA:93930
Tenorio Syndrome	Recurrent aphthous stomatitis, Mandibular prognathia, Ventriculomegaly, Wide mouth, Hydrocephalus...	OMIM:616260
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Hypertelorism, Mirror image foot po...	OMIM:119800
Craniolenticulosutural Dysplasia	High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Microdontia, Hypoplasia of the...	ORPHA:50814
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Pseudohermaphroditism, Female, With Skeletal Anomalies	Ambiguous genitalia, Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head disl...	OMIM:264270
Mucopolysaccharidosis Type 2	Conductive hearing impairment, Hepatomegaly, Abnormal nasal mucus secretion, Gingival overgrowth,...	ORPHA:580
Cowden Syndrome 1	Colonic diverticula, High palate, Micrognathia, Hydrocele testis, Palmoplantar hyperkeratosis, Pe...	OMIM:158350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Cerebellar cyst, Hydrocephalus, Polymicrogyria, Agyria, Buphthalmos, Microphtha...	OMIM:616538
Spondyloepimetaphyseal Dysplasia, X-Linked	Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi...	OMIM:300106
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft	OMIM:617542
Lymphangiectasia, Pulmonary, Congenital	Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,...	OMIM:265300
Alpha-Mannosidosis, Infantile Form	Chiari malformation, Hypoplastic inferior ilia, Cortical thickening of long bone diaphyses, Hepat...	ORPHA:309282
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Micrognathia, Pectus excavatum, Hypertrophic cardiomyopathy, Patent foramen ovale, Genu valgum, V...	ORPHA:363700
Joubert Syndrome 33	Apnea, Syndactyly, Molar tooth sign on MRI, Splenomegaly	OMIM:617767
Refsum Disease, Classic	Sensorineural hearing impairment, Abnormal renal physiology, Short fourth metatarsal, Increased C...	OMIM:266500
Nephronophthisis 11	Renal tubular atrophy, Hepatic fibrosis, Stage 5 chronic kidney disease, Renal corticomedullary c...	OMIM:613550
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:615113
Functioning Gonadotropic Adenoma	Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol...	ORPHA:91348
Pulmonary Arteriovenous Malformation	Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Bacterial endocarditis, Telangie...	ORPHA:2038
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Mandibuloacral Dysplasia Progeroid Syndrome	Osteolytic defects of the phalanges of the hand, Micrognathia, Elevated hepatic transaminase, Pal...	OMIM:619127
Kleefstra Syndrome Due To 9Q34 Microdeletion	Vesicoureteral reflux, Conotruncal defect, Abnormal cardiac septum morphology, Hypoplasia of peni...	ORPHA:96147
Congenital Disorder Of Glycosylation, Type It	Pulmonary arterial hypertension, Elevated circulating alanine aminotransferase concentration, Pie...	OMIM:614921
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Elevated hepatic transaminase, Hypertelorism, Microphthalmia, Dysphagia, Low-set e...	OMIM:612379
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Genu valgum, Cleft soft palate, Coxa vara, Short femoral neck, Abnormality...	ORPHA:93316
Osteopetrosis, Autosomal Recessive 7	Lateral ventricle dilatation, Death in infancy, Hydrocephalus, Recurrent pneumonia, Proptosis, He...	OMIM:612301
X-Linked Intellectual Disability, Sutherland-Haan Type	Decreased testicular size, Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia	ORPHA:93950
Renal Tubular Dysgenesis	Abnormality of the urinary system, Renotubular dysgenesis, Anuria, Pulmonary hypoplasia	OMIM:267430
Rare Circulatory System Disease	Cyanosis, Abnormal hand morphology, Abnormality of the elbow, Abnormal finger morphology, Elbow f...	ORPHA:98028
Atrioventricular septal defect 3	Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect	OMIM:600309
Hemangioblastoma	Hydrocephalus, Cerebellar edema, Cerebellar hemangioblastoma, Neurogenic bladder	ORPHA:252054
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Infant Acute Respiratory Distress Syndrome	Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai...	ORPHA:70587
Triopia	Polyhydramnios, Encephalocele, Median cleft lip, Hypertelorism, Cleft palate	ORPHA:3374
Ivic Syndrome	Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno...	ORPHA:2307
Holoprosencephaly 4	Hypotelorism, Semilobar holoprosencephaly, Median cleft lip and palate, Median cleft lip	OMIM:142946
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Microdontia, Palmoplantar hyperkeratosis, Oral leukoplakia, Carious teeth, Pulm...	OMIM:224230
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Short phalanx of finger, Metaphyseal irregularity, Rhizomelia, Short metacarpal, Coxa vara, Hypop...	ORPHA:85167
Neonatal Lupus Erythematosus	Cutaneous photosensitivity, Hepatic failure, Abnormality of the liver, Hydrocephalus, Elevated he...	ORPHA:398124
Alexander Disease Type I	Cerebellar atrophy, Hydrocephalus	ORPHA:363717
Hypochondroplasia	Genu varum, Short femoral neck, Short long bone, Brachydactyly, Flared metaphysis, Trident hand, ...	OMIM:146000
Metaphyseal Acroscyphodysplasia	Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal...	OMIM:250215
Hereditary Bullous Dystrophy, Macular Type	Tapered finger, Short finger, Acrocyanosis, Abnormal heart morphology, Pneumonia	ORPHA:1867
Nance-Horan Syndrome	Short phalanx of finger, Supernumerary maxillary incisor, Macrotia, Screwdriver-shaped incisors, ...	OMIM:302350
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Abnormal thorax morphology, Communicating hydrocephalus, Anomalous pulm...	ORPHA:2184
Arthrogryposis And Ectodermal Dysplasia	Cleft upper lip, Joint contracture of the hand, Oligodontia, Camptodactyly, Abnormal dental ename...	OMIM:601701
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Tapered finger, Ventriculomegaly, Aganglionic megacolon, Hydrocephalus, Sh...	OMIM:613603
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Patent ductus arteriosus, Anuria, Microcolon, Pyelonephritis, P...	OMIM:619351
Marfan Syndrome	Meningocele, Aortic tortuosity, Ascending tubular aorta aneurysm, Micrognathia, Pulmonary artery ...	ORPHA:558
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Flexion contracture, Deeply set eye, Submucous cleft hard palate, Atrial se...	OMIM:618891
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Cleft palate, Hearing impairment, Talipes equinovarus, Posteriorly rotated ears, Arthrogryposis m...	OMIM:601776
Hutchinson-Gilford Progeria Syndrome	Cyanosis, Ventricular hypertrophy, Conductive hearing impairment, Coxa valga, Delayed eruption of...	ORPHA:740
Distal Renal Tubular Acidosis	Aminoaciduria, Proximal tubulopathy, Increased susceptibility to fractures, Sensorineural hearing...	ORPHA:18
Isolated Optic Nerve Hypoplasia/Aplasia	Vesicoureteral reflux, Ventriculomegaly, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, U...	ORPHA:137902
Giant Cell Arteritis	Abdominal aortic aneurysm, Hepatic failure, Conductive hearing impairment, Optic atrophy, Arthrit...	ORPHA:397
Carnitine-Acylcarnitine Translocase Deficiency	Respiratory insufficiency, Cyanosis, Hepatic failure, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:159
Hemochromatosis, Type 1	Cirrhosis, Telangiectasia, Azoospermia, Hepatocellular carcinoma, Elevated hepatic transaminase, ...	OMIM:235200
Choanal Atresia	Cyanosis, Polydactyly, Chronic sinusitis, Respiratory distress, Tracheomalacia, Upper airway obst...	ORPHA:137914
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Protrusio acetabuli, Hypoplastic pulmonary veins, Wide anterior fontanel, Lo...	OMIM:610682
Aicardi-Goutieres Syndrome 1	Cardiomyopathy, Petechiae, Elevated hepatic transaminase, Purpura, Acrocyanosis, CSF lymphocytic ...	OMIM:225750
Renal Coloboma Syndrome	Vesicoureteral reflux, Optic nerve dysplasia, Multicystic kidney dysplasia, Renal dysplasia, Join...	ORPHA:1475
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Hypertelorism, Bifid uvula, High palate, Median cleft lip	OMIM:155145
Fibromuscular Dysplasia, Multifocal	Pulmonary artery aneurysm, Tortuous cerebral arteries, Celiac artery dissection, High palate, Dee...	OMIM:619329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Flexion contracture, Ventriculomegaly, Lateral ventricle dilatation, Cer...	OMIM:613154
Frontonasal Dysplasia 2	Conical tooth, Encephalocele, Wide nasal bridge, Widely spaced teeth, Oligohydramnios, Hypertelor...	OMIM:613451
Lethal Acantholytic Erosive Disorder	Natal tooth, 2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of toe, Clinodactyly of ...	ORPHA:158687
Sepsis In Premature Infants	Cyanosis, Petechiae, Jaundice, Nasal flaring, Abnormal respiratory system physiology, Purpura, Dy...	ORPHA:90051
Renal Hypoplasia, Bilateral	Vesicoureteral reflux, Anemia, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Oligo...	ORPHA:97362
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Narrow greater sciatic notch,...	OMIM:250220
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Abnormality of cartilage of external ear, Hypoplasia of the maxil...	ORPHA:2399
Faciocardiorenal Syndrome	Wide nasal bridge, Hypodontia, Protruding ear, Hypertelorism, Narrow mouth, Horseshoe kidney, Smo...	ORPHA:1973
Angelman Syndrome	Mandibular prognathia, Deeply set eye, Wide mouth, Widely spaced teeth, Macroglossia, Hypoplasia ...	OMIM:105830
Duplication Of The Pituitary Gland	Retrognathia, Encephalocele, Wide mouth, Supernumerary tooth, Hypertelorism, Abnormal midbrain mo...	ORPHA:314621
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Preaxial foot polydactyly, Pancreatitis, Elevated hepatic transaminase, Atria...	OMIM:619471
Fanconi Anemia, Complementation Group J	Short thumb, Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Kniest Dysplasia	Dumbbell-shaped long bone, Pierre-Robin sequence, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Developmental And Epileptic Encephalopathy 2	Gastroesophageal reflux, Tapered finger, Small hand, Deeply set eye, Thick lower lip vermilion, S...	OMIM:300672
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Atrioventricular canal defect, Cyst of the ductus choledochus, Tapered ...	OMIM:619480
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Hydrocephalus	ORPHA:397951
Griscelli Syndrome	Encephalocele, Premature graying of hair, Hepatitis, Jaundice, Hydrocephalus, Hepatomegaly, Splen...	ORPHA:381
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Exertional dyspnea, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic a...	ORPHA:42
Hypoplasminogenemia	Gingivitis, Abnormal fallopian tube morphology, Duodenal ulcer, Periodontitis, Gingival overgrowt...	ORPHA:722
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Deeply set eye, Jaundice, Macroglossia, Short nose, Malar flattening, Prolonged neonatal jaundice	OMIM:613038
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Long philtrum, Clinodactyly of the 5th finger, Microretrognathia, Hypoplasia of the maxilla, Abno...	ORPHA:228396
Total Anomalous Pulmonary Venous Return 1	Dextrocardia, Total anomalous pulmonary venous return	OMIM:106700
Isolated Anencephaly	Congenital diaphragmatic hernia, Omphalocele, Cleft lip	ORPHA:563609
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Double outlet right ventricle, Narrow palate, T lymphocytopenia, Abnorm...	OMIM:618223
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Bifid uvula, Aortic dissection, Cleft palate, Dilatation of the sinus of...	ORPHA:284984
Hereditary Sensory And Autonomic Neuropathy Type 5	Deeply set eye, Painless fractures due to injury, Abnormality of the gingiva, Malar flattening, A...	ORPHA:64752
Orofaciodigital Syndrome X	Retrognathia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Cleft pa...	OMIM:165590
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Macrotia, Ventricular septal defect, Optic atrophy, Short nose, Microphthalmia, Hyp...	OMIM:234050
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Clubbing, Crackles, Restrictive ven...	ORPHA:747
Aorta Coarctation	Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi...	ORPHA:1457
Laryngotracheal Angioma	Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing	ORPHA:137935
X-Linked Hypophosphatemia	Renal phosphate wasting, Abnormal lower-limb metaphysis morphology, Genu valgum, Enlargement of t...	ORPHA:89936
Xeroderma Pigmentosum, Complementation Group F	Flexion contracture, Deeply set eye, Hearing impairment	OMIM:278760
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Micrognathia, Downturned corners of mouth, Communicating hydrocephalus, Unilateral renal agenesis	ORPHA:1064
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Deep philtrum, Micrognathia, Communicating hydrocephalus, Cryptorchidism	ORPHA:1237
Prader-Willi-Like Syndrome	Pedal edema, Deeply set eye, Small hand, Wide nasal bridge, Hip dysplasia, Thin upper lip vermili...	ORPHA:398073
Colonic Atresia	Omphalocele, Gastroschisis, Abdominal situs inversus, Abnormality of mesentery morphology	ORPHA:1198
Sponastrime Dysplasia	Hip subluxation, Precocious puberty, Microdontia, Flat capital femoral epiphysis, Hip dislocation...	ORPHA:93357
Abetalipoproteinemia	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Resp...	ORPHA:14
Gaucher Disease, Type Ii	Gastroesophageal reflux, Anemia, Double aortic arch, Trismus, Hepatomegaly, Dysphagia, Thrombocyt...	OMIM:230900
Fucosidosis	Lipoatrophy, Abnormality of the gallbladder, Acrocyanosis, Mucopolysacchariduria, Hepatomegaly, V...	ORPHA:349
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Acrofacial Dysostosis, Cincinnati Type	Flared lower limb metaphysis, Patent ductus arteriosus, Retrognathia, Macrotia, Anotia, Microtia,...	OMIM:616462
Developmental And Epileptic Encephalopathy 84	Thick lower lip vermilion, Deeply set eye, Smooth philtrum, Large earlobe	OMIM:618792
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hypoplasia of the thymus, Ventricular septal defect, Hepatitis, Congenital pu...	ORPHA:436252
Neurofaciodigitorenal Syndrome	Triphalangeal thumb, Abnormality of the philtrum, Mandibular prognathia, Abnormality of the elbow...	ORPHA:2673
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Congenital Heart Defects And Ectodermal Dysplasia	Atrioventricular canal defect	OMIM:617364
Atrial Septal Defect, Ostium Primum Type	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Right ventricular dilatation, Left...	ORPHA:99106
Oculotrichoanal Syndrome	Anophthalmia, Anteriorly placed anus, Hypertelorism, Microphthalmia, Anal stenosis	ORPHA:2717
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Retinal arteriolar tortuosity, Hematuria, Renal cyst, Lacunar stroke, Dilatation of the cerebral ...	OMIM:611773
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Septo-optic dysplasia, Median cleft lip and palate, Optic nerve hypoplasia, Holopros...	ORPHA:95494
Osteogenesis Imperfecta, Type Xvi	Rhizomelia, Short long bone, Multiple rib fractures, Microretrognathia, Tooth agenesis, Mesomelia...	OMIM:616229
Icf Syndrome	Micrognathia, Communicating hydrocephalus, Macroglossia, Hypertelorism, Protruding tongue, Low-se...	ORPHA:2268
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Mogs-Cdg	Retrognathia, Hypoventilation, High palate, Sensorineural hearing impairment, Pulmonary edema, Ab...	ORPHA:79330
Breath-Holding Spells	Cyanosis	OMIM:607578
Popliteal Pterygium Syndrome	Fibrous syngnathia, Cleft upper lip, Lower lip pit, Cutaneous finger syndactyly, Bifid uvula, Spi...	OMIM:119500
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased CSF lactate, Postaxial polydactyly, Proximal renal tubular acidosis, Cryptorchidism	OMIM:615824
Congenital Tracheal Stenosis	Patent ductus arteriosus, Anomalous origin of left pulmonary artery from ascending aorta, Polyhyd...	ORPHA:141127
Whipple Disease	Respiratory insufficiency, Pleuritis, Hydrocephalus, Pericarditis, Cough, Proptosis, Hepatomegaly...	ORPHA:3452
Faundes-Banka Syndrome	Gastroesophageal reflux, Conductive hearing impairment, Deeply set eye, Microtia, Micrognathia, L...	OMIM:619376
Legius Syndrome	Nephroblastoma, Polydactyly, Abnormal sternum morphology, Diaphyseal dysplasia, Mitral valve prol...	ORPHA:137605
Krabbe Disease	Hydrocephalus, Hearing impairment, Increased CSF protein concentration	OMIM:245200
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neo...	ORPHA:79301
Dpagt1-Cdg	Flexion contracture, Abnormal cerebellum morphology, Cerebellar hypoplasia, Clinodactyly, Camptod...	ORPHA:86309
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An...	ORPHA:2973
Sialuria	2-3 toe syndactyly, Long hallux, Elevated hepatic transaminase, Hepatosplenomegaly, Thin upper li...	ORPHA:3166
Melanosis, Neurocutaneous	Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation, Death in infancy	OMIM:249400
Optic Pathway Glioma	Hydrocephalus, Proptosis	ORPHA:2086
Osebold-Remondini Syndrome	Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil...	OMIM:112910
Glutaric Acidemia I	Lateral ventricle dilatation, Ketonuria, Hydrocephalus, Glutaric aciduria, Hepatomegaly	OMIM:231670
Aceruloplasminemia	Hepatic fibrosis, Cirrhosis, Abnormal dentate nucleus morphology, Elevated hepatic iron concentra...	ORPHA:48818
Loeys-Dietz Syndrome 3	Aortic tortuosity, Ventricular hypertrophy, Hip osteoarthritis, Bifid uvula, Camptodactyly, Ascen...	OMIM:613795
Attrv30M Amyloidosis	Cardiomegaly, Nephropathy, Abnormal renal physiology, Cardiomyopathy	ORPHA:85447
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Amelocerebrohypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Hydrocephalus, Amelogenesis imperfecta, Abnormality of d...	ORPHA:1946
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Pulmonary arterial hypertension, Ventricular hypertrophy, Ventriculomegaly, Increased CSF lactate...	OMIM:619051
Mednik Syndrome	Cirrhosis, Hepatic fibrosis, Sensorineural hearing impairment, Death in infancy, Cholestasis, Ery...	OMIM:609313
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Short ribs, Short long bone, Irregular carpal bones, Carpal bone hypoplasi...	OMIM:252600
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Retrognathia, Patent ductus arteriosus, Abnormality of connective tissue, Pneumothorax, Exertiona...	ORPHA:91387
Lysosomal Acid Lipase Deficiency	Abnormal urine potassium concentration, Pulmonary arterial hypertension, Hepatic fibrosis, Hepati...	ORPHA:275761
Congenital Varicella Syndrome	Atypical scarring of skin, Microphthalmia, Micromelia	ORPHA:291
Singleton-Merten Syndrome 1	Osteolytic defects of the phalanges of the hand, Hip subluxation, Subvalvular aortic stenosis, Co...	OMIM:182250
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Wrist flexion contracture, Sensorineural hearing impairment, Periventri...	OMIM:618733
Microtia-Anotia	Holoprosencephaly, Anotia, Microtia	OMIM:600674
Barber-Say Syndrome	Delayed eruption of teeth, Micrognathia, Gingival overgrowth, Hearing impairment, Talipes equinov...	OMIM:209885
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Tubulointerstitial nephritis, Aminoaciduria, Microvesicular hepatic steatosis, Decreased liver fu...	OMIM:124000
Adult Krabbe Disease	Urinary incontinence, Prolonged brainstem auditory evoked potentials, Abnormal midbrain morpholog...	ORPHA:206448
Van Der Woude Syndrome 2	Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate	OMIM:606713
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus, Recurrent lower respiratory tract infections, Bronchiectasis, Pro...	OMIM:618699
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Dental malocclusion, Conductive hearing impairment, High palate, Apla...	OMIM:603457
Amoebiasis Due To Free-Living Amoebae	Respiratory tract infection, Abnormal cerebellum morphology, Abnormality of taste sensation, Abno...	ORPHA:68
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Dermatographic urticaria, Hepati...	ORPHA:186
Hemochromatosis Type 4	Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis	ORPHA:139491
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment, Communicating hydrocephalus, Limb undergrowth, Respiratory failure...	ORPHA:1861
Cholera	Palmoplantar cutis laxa, Abnormality of renal excretion, Achlorhydria, Deeply set eye, Acute kidn...	ORPHA:173
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Microphthalmia	OMIM:601794
Gaucher Disease	Respiratory insufficiency, Ventriculomegaly, Hepatomegaly, Aortic valve calcification, Arthrogryp...	ORPHA:355
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Short phalanx of finger, Hip subluxation, Cleft mandible, Short 5th finger, Cleft lo...	OMIM:268305
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Camptodactyly of finger, Ventricular hypertrophy, Short phalanx of finger, Flexion contracture, S...	OMIM:143095
Dravet Syndrome	Cyanotic episode, Tibial torsion	ORPHA:33069
Acromesomelic Dysplasia 4	Short phalanx of finger, Short toe, Genu valgum, Metaphyseal irregularity, Broad phalanx, Flared ...	OMIM:619636
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology	ORPHA:300751
Thalidomide Embryopathy	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly...	ORPHA:3312
Alström Syndrome	Gingivitis, Chronic bronchitis, Elevated hepatic transaminase, Recurrent sinusitis, Hepatosplenom...	ORPHA:64
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Optic nerve dysplasia, Polyhydramnios, Deeply set eye, Short philtrum, Dental crowding	OMIM:617296
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Nijmegen Breakage Syndrome	Retrognathia, Hearing abnormality, Non-midline cleft lip, Macrotia, Anorectal anomaly, Pollakisur...	ORPHA:647
Bronchogenic Cyst	Abnormal pericardium morphology, Abnormal stomach morphology, Abnormality of the peritoneum, Abno...	ORPHA:2357
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Nephroblastoma, Mandibular pain, Peptic ulcer, Renal insufficiency, Pa...	ORPHA:99880
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Jejunal atresia, Wide nasal bri...	ORPHA:989
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Optic atrophy, Pulmonary...	OMIM:618164
Spondyloepiphyseal Dysplasia Congenita	Genu valgum, Upper limb undergrowth, Short femoral neck, Limited elbow movement, Short long bone,...	ORPHA:94068
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ventriculomegaly, Hypoplasia of the iris, Hydrocephalus, Hypertelorism, Abnormal pinna morphology...	OMIM:614195
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Gingivitis, Esophageal stricture, Short 4th metacarpal, Abnormality of t...	ORPHA:2908
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Difficulty in tongue movements, Respiratory tract infection, Elevated ...	ORPHA:308552
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Micrognathia, Microdontia, Hydrocephalus, Communicating hydrocephalus,...	OMIM:112240
Pseudo-Torch Syndrome 3	Respiratory insufficiency, Cerebellar hypoplasia, Acute kidney injury, Death in infancy, Apnea, C...	OMIM:618886
Msh3-Related Attenuated Familial Adenomatous Polyposis	Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Renal cyst...	ORPHA:480536
Tetragametic Chimerism	Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Gonad...	ORPHA:199310
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Nephroblastoma, Mandibular pain, Peptic ulcer, Renal insufficiency, Ut...	ORPHA:143
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Flexion contracture, Hallux valgus, Premature graying of hair, Elbow fle...	OMIM:256040
Hb Bart'S Hydrops Fetalis	Pericarditis, Hydrocephalus, Splenomegaly, Hepatomegaly	ORPHA:163596
Nicolaides-Baraitser Syndrome	Short phalanx of finger, Hallux valgus, Short lingual frenulum, Everted lower lip vermilion, Smoo...	OMIM:601358
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Faciocardiomelic Syndrome	Polydactyly, Dental malocclusion, Thin bony cortex, Long philtrum, Wide mouth, Slender long bone,...	OMIM:612731
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
X-Linked Intellectual Disability, Porteous Type	Macrotia, Mandibular prognathia, Short philtrum, Hypoplasia of the maxilla, Cupped ear	ORPHA:93945
Hyperbiliverdinemia	Decreased liver function, Green urine, Cholestasis, Cholelithiasis	OMIM:614156
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Glomerulopathy, Hemolytic-uremic syndrome, Methylmalonic aciduri...	ORPHA:79282
Familial Atrial Myxoma	Bacterial endocarditis, Exertional dyspnea, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Chol...	ORPHA:615
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Pelizaeus-Merzbacher Disease In Female Carriers	Deeply set eye, Hypertelorism, Abnormality of the lower urinary tract, Neurogenic bladder	ORPHA:280229
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Left ventricular noncompaction, Submucous cleft soft palate, Synostosis of the pro...	OMIM:300967
Laryngeal Abductor Paralysis	Cyanosis, Stridor, Talipes equinovarus	OMIM:150260
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Hypoventilation, Sensorineural hearing impairment, Asthma, Elevated hepatic transaminas...	ORPHA:293987
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Tuberous Sclerosis 2	Precocious puberty, Adenoma sebaceum, Renal angiomyolipoma, Renal cell carcinoma, Cardiac rhabdom...	OMIM:613254
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Ethylene Glycol Poisoning	Cyanosis, Episodic respiratory distress, Pulmonary edema, Decreased urine output, Renal tubular e...	ORPHA:31826
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating alanine aminotransferase concentration, Renal tubular acidosis, Dicarboxylic...	OMIM:255120
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Micrognathia, Microphthalmia, Osteopetrosis, Shallow orbits, Posteriorly rotated ears	OMIM:617306
Primrose Syndrome	Flexion contracture, Wide nasal bridge, Torus palatinus, Metatarsus adductus, Generalized osteopo...	OMIM:259050
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Thickened ribs, Hepatosplenomegaly, Gingival overgrowth, Splenomegaly, A...	ORPHA:217085
Neurofibromatosis, Type I	Genu valgum, Parathyroid adenoma, Aqueductal stenosis, Spina bifida, Hydrocephalus, Pheochromocyt...	OMIM:162200
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Micrognathia, Hypertrophic cardiomyopathy, Radial deviation of ...	OMIM:163950
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, High palate, Ventriculomegaly, Macrotia, Communicating hydrocephalus, Hype...	OMIM:617011
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Thickened ribs, Hepatosplenomegaly, Gingival overgrowth, Splenomegaly, A...	ORPHA:217093
Cardiomyopathy, Familial Hypertrophic, 27	Ventriculomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertr...	OMIM:618052
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Gonadal calcification, Abnormality of the ovary, Pleural effu...	ORPHA:314473
Leber Congenital Amaurosis 8	Deeply set eye	OMIM:613835
Phace Association	Patent ductus arteriosus, Horner syndrome, Vascular dilatation, Ventricular septal defect, Optic ...	OMIM:606519
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Small earlobe, Deeply set eye, Micrognathia, Tracheomalacia, Joint laxity, Hearing impairment, Hy...	ORPHA:412069
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Hydrocephalus, Conotruncal defect, Cleft palate	OMIM:243440
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas...	ORPHA:1414
Bile Acid Malabsorption, Primary, 2	Elevated circulating alanine aminotransferase concentration, Prolonged neonatal jaundice, Peripor...	OMIM:619481
Japanese Encephalitis	Distal upper limb muscle weakness, Abnormal substantia nigra morphology, Pulmonary edema, CSF ple...	ORPHA:79139
Mucopolysaccharidosis, Type Iiib	Asymmetric septal hypertrophy, Hearing impairment, Recurrent upper respiratory tract infections, ...	OMIM:252920
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the liver, Abnormality of the ovary, Neoplasm of the ...	ORPHA:543
Schneckenbecken Dysplasia	Dumbbell-shaped long bone, Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Diaphyse...	ORPHA:3144
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Aplastic clavicle, Aplasia/hypoplasia of the femur, Missing ribs, Clinodac...	ORPHA:2769
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Abnormal stomach morphology, Unilateral renal agenesis, Acute leukemia	ORPHA:281090
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Adenomat...	OMIM:617100
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Retrognathia, Dental malocclusion, High palate, Short finger, Bifid uvula, Joint laxity, Broad ha...	OMIM:601552
Van Der Woude Syndrome	Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Laryngotracheoesophageal Cleft	Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato...	ORPHA:2004
Oculo-Palato-Cerebral Syndrome	Macrotia, Small hand, Joint hypermobility, Microphthalmia, Cleft palate, Short foot, High, narrow...	ORPHA:2714
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hemolytic-uremic syndrome, Methylmalonic aciduria, Macrotia, Cystathioninuria, Hydrocephalus, Hem...	OMIM:277400
Smith-Mccort Dysplasia 2	Short phalanx of finger, Broad femoral neck, Genu valgum, Mandibular prognathia, Metaphyseal irre...	OMIM:615222
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Beta-Thalassemia Intermedia	Cholelithiasis, Cirrhosis, Proximal tubulopathy, Abnormality of the liver, Hypogonadism, Jaundice...	ORPHA:231222
Geleophysic Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Long philtrum, Wide mouth, Short ...	OMIM:231050
Trichothiodystrophy 1, Photosensitive	Retrognathia, Macrotia, Flexion contracture, Malabsorption, Short nose, Microphthalmia, Intestina...	OMIM:601675
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Cirrhosis, Jaundice, Hepatocellular carcinoma, Elevated hepatic transaminase, Ach...	ORPHA:65682
Lhermitte-Duclos Disease	Enlarged cerebellum, Hydrocephalus, Hand polydactyly, Macroglossia, Polymicrogyria	ORPHA:65285
Gonadoblastoma	Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno...	ORPHA:206484
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral hypoplasia, Corner fracture of metaphysis, Posteriorly rotated ears, Hypoplastic iliac ...	ORPHA:93315
Mitochondrial Phosphate Carrier Deficiency	Respiratory insufficiency, Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Cyanosis	OMIM:610773
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Hypoplasia of the retina, Ventriculomegaly, Hypoplasia of the brainstem, Ce...	OMIM:253280
Split Cord Malformation	Meningocele, Urinary incontinence, Renal duplication, Myelomeningocele, Detrusor sphincter dyssyn...	ORPHA:573278
Arachnoiditis	Hearing impairment, Hydrocephalus, Urinary bladder sphincter dysfunction, Tinnitus	ORPHA:137817
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Respiratory ar...	OMIM:600649
Occipital Horn Syndrome	Genu valgum, High palate, Long philtrum, Broad ribs, Coxa valga, Broad clavicles, Narrow chest, C...	OMIM:304150
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, High palate, Ventriculomegaly, Communicating hydrocephalus, Asymmetry of t...	ORPHA:457359
Symptomatic Form Of Hemochromatosis Type 1	Cirrhosis, Hepatocellular carcinoma, Cholangiocarcinoma, Chronic hepatic failure, Hepatomegaly, C...	ORPHA:465508
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Long philtrum, Cerebellar hypoplasia, Micrognathia, Tented philtrum, Optic nerve hypoplasia, Rena...	ORPHA:495875
Beta-Thalassemia	Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Hypogonadotropic hypogonadi...	ORPHA:848
Primary Hyperoxaluria	Elevated urine glycolate, Abnormality of the dentition, Calcium oxalate nephrolithiasis, Stage 5 ...	ORPHA:416
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect	OMIM:619170
Benign Familial Neonatal Epilepsy	Apnea, Circumoral cyanosis	ORPHA:1949
Aicardi-Goutières Syndrome	Lipoatrophy, Multiple joint contractures, Ventriculomegaly, Low-set ears, Arrhinencephaly, Elevat...	ORPHA:51
Eisenmenger Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary arterial hypertension, Bacteri...	ORPHA:97214
Craniosynostosis And Dental Anomalies	Short phalanx of finger, 2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Hal...	OMIM:614188
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Spondylometaphyseal Dysplasia, Algerian Type	Genu valgum, Anterior rib cupping, Short tubular bones of the hand, Coxa vara, Short long bone, S...	OMIM:184253
Ethylmalonic Encephalopathy	Abnormal brainstem MRI signal intensity, Acrocyanosis, Petechiae, Ethylmalonic aciduria	ORPHA:51188
Exudative Vitreoretinopathy 2, X-Linked	Deeply set eye, Microphthalmia	OMIM:305390
Mesomelia-Synostoses Syndrome	Short phalanx of finger, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Dis...	OMIM:600383
Alexander Disease	Respiratory insufficiency, High palate, Aqueductal stenosis, Hydrocephalus, Sleep apnea, Agenesis...	ORPHA:58
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Periportal fibrosis, Bruising susceptibility, Intrahepatic cholest...	OMIM:619484
Intellectual Developmental Disorder, Autosomal Dominant 54	Gastroesophageal reflux, Deeply set eye, Delayed eruption of primary teeth, Urinary retention, Wi...	OMIM:617799
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Horizontal ribs, Thoracic hypoplasia, Short 4th metacarpal, Camptodactyly, Broad hallux, Limb und...	OMIM:618019
Acquired Methemoglobinemia	Dyspnea, Cyanosis, Hypoxemia, Respiratory distress	ORPHA:464453
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Hydrocephalus, Perineal fistula, Anal atresia, Oligodactyly, Ectrodacty...	ORPHA:3016
Cleft Velum	Conductive hearing impairment, Cleft soft palate, Velopharyngeal insufficiency, Recurrent otitis ...	ORPHA:99772
Chronic Pneumonitis Of Infancy	Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress...	ORPHA:91359
Laryngotracheoesophageal Cleft Type 4	Abnormal cardiac septum morphology, Tracheoesophageal fistula, Abnormality of mesentery morpholog...	ORPHA:93941
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Osteoporosis, Osteopenia, Vertigo	ORPHA:91347
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology, Hydrocephalus	ORPHA:31
Deafness, X-Linked 7	Wide nasal bridge, Unilateral microphthalmos, Stenosis of the external auditory canal, Hearing im...	OMIM:301018
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ...	OMIM:614817
Spondyloepimetaphyseal Dysplasia, Shohat Type	Genu varum, Metaphyseal irregularity, Fibular overgrowth, Thoracic hypoplasia, Short long bone, C...	ORPHA:93352
Von Hippel-Lindau Disease	Pancreatic cysts, Elevated urinary catecholamines, Myocarditis, Macular edema, Renal cell carcino...	ORPHA:892
Intellectual Developmental Disorder, Autosomal Dominant 38	High palate, Deeply set eye, Everted lower lip vermilion, Tented upper lip vermilion, Downturned ...	OMIM:616393
Classical Ehlers-Danlos Syndrome	Shoulder dislocation, Pulp calcification, Incisional hernia, Hip dislocation, Dislocated radial h...	ORPHA:287
Aprosencephaly Syndrome	Hand oligodactyly, Anencephaly, Aprosencephaly	OMIM:207770
Hydrocephalus, Normal-Pressure, 1	Urinary incontinence, Normal pressure hydrocephalus	OMIM:236690
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory insufficiency, Ventricular hypertrophy, Microvesicular hepatic steatosis, Ventriculom...	OMIM:618278
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Short phalanx of finger, Multiple joint contractures, Ventriculomegaly, Secundum atrial septal de...	ORPHA:99646
Paternal Uniparental Disomy Of Chromosome 6	Retrognathia, Patent ductus arteriosus, Abdominal wall defect, High palate, Ventricular septal de...	ORPHA:96191
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Tooth malposition, Prominence of the zygomatic bone, Renal tubular acidosis, High p...	ORPHA:2785
Cerebrotendinous Xanthomatosis	Abnormality of the elbow, Abnormal finger morphology, Thoracic kyphosis, Abnormality of tibia mor...	ORPHA:909
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly	OMIM:617761
Encephalopathy, Ethylmalonic	Petechiae, Acrocyanosis, Death in infancy, Ethylmalonic aciduria	OMIM:602473
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m...	ORPHA:1455
Melanocytic Nevus Syndrome, Congenital	Long philtrum, Deep philtrum, Prominence of the premaxilla, Everted lower lip vermilion, Open mouth	OMIM:137550
Microphthalmia, Isolated, With Coloboma 9	Macrotia, Long philtrum, Hypertelorism, Microphthalmia, Low-set ears	OMIM:615145
Glycogen Storage Disease Vii	Exercise-induced myoglobinuria, Jaundice, Cholelithiasis	OMIM:232800
Johanson-Blizzard Syndrome	Colonic diverticula, Urethrovaginal fistula, Hypoplasia of the primary teeth, Vascular dilatation...	OMIM:243800
Joubert Syndrome 25	Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Extra-axial cerebrospinal fluid accumulation, Cyanosis, Recurrent lower respiratory tract infecti...	OMIM:618426
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Death in infancy, Endocardial fibroelastosis	OMIM:600559
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Shawl scrotum, Renal hypoplasia/aplasia, Elevated hepatic transamin...	ORPHA:261265
Dural Sinus Malformation	Pulsatile tinnitus, Abnormal cerebellum morphology, Hydrocephalus, Myelopathy, Proptosis	ORPHA:97339
Argininosuccinic Aciduria	Aminoaciduria, Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, O...	OMIM:207900
Thrombocytopenia 6	Deeply set eye, Myelofibrosis, Thrombocytopenia, Osteoporosis, Hypotelorism	OMIM:616937
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Increased CSF protein concentration, Cardiomegaly, Hearing impairment, Card...	OMIM:105210
Wilson Disease	Aminoaciduria, Face of the giant panda sign, Hyperphosphaturia, Hepatocellular carcinoma, Hepatic...	OMIM:277900
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Enamel hypoplasia, Aminoaciduria, Wrist swelling, Genu valgum, Ventricul...	OMIM:309000
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, A...	ORPHA:2795
Familial Exudative Vitreoretinopathy	Macular edema, Lymphedema, Abnormal optic disc morphology, Microphthalmia, Hearing impairment, Re...	ORPHA:891
Microsporidiosis	Bronchitis, Endocarditis, Myocarditis, Abnormal fallopian tube morphology, Prostatitis, Abnormali...	ORPHA:2552
Sacral Defect With Anterior Meningocele	Meningocele, Myelomeningocele, Urinary retention, Neurogenic bladder, Absence of the sacrum, Hydr...	OMIM:600145
Mody	Pancreatic hypoplasia, Glycosuria, Abnormality of the kidney, Renal cyst, Nephropathy, Elevated h...	ORPHA:552
Hec Syndrome	Vaginal hydrocele, Cardiomyopathy, Communicating hydrocephalus, Endocardial fibroelastosis	ORPHA:2119
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Delayed eruption of primary teeth, Lateral ventricle dilatation, Dil...	OMIM:300952
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality...	ORPHA:234
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Calvarial osteosclerosis, Stenosis of the medullary cavity of the long bones, Cortical th...	ORPHA:93325
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycorrhachia, Hydrocephalus, Left ventricular hypertrophy, Increased CSF lactate	ORPHA:90065
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory insufficiency, Difficulty in tongue movements, Respiratory tract infection, Flexion c...	ORPHA:365
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Wide anterior fontanel, Short metacarpal, Femoral retroversion, Radial...	OMIM:610915
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Abnormal cardiac septum morphology	ORPHA:3346
Joubert Syndrome 28	Hypertelorism, Molar tooth sign on MRI	OMIM:617121
Hypohidrotic Ectodermal Dysplasia	Nephrotic syndrome, Abnormality of dental morphology, Breast aplasia, Hypoplasia of the maxilla, ...	ORPHA:238468
Joubert Syndrome 8	Molar tooth sign on MRI, Prolonged neonatal jaundice, Hepatomegaly, Occipital encephalocele, Hype...	OMIM:612291
Buerger Disease	Acrocyanosis	ORPHA:36258
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Scrotal hypospadias, Micropenis, Hypospadias	OMIM:250790
Kawasaki Disease	Ascending tubular aorta aneurysm, Hepatitis, Arthritis, Jaundice, Double outlet right ventricle w...	ORPHA:2331
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Stage ...	OMIM:603860
Ovarian Fibrothecoma	Gonadal calcification, Abnormality of the ovary, Pleural effusion, Peritonitis, Abnormal endometr...	ORPHA:314478
Coronary Arterial Fistula	Patent ductus arteriosus, Patent foramen ovale, Pulmonary arterial hypertension, Cardiomegaly, Ba...	ORPHA:2041
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Communicating hydrocephalus, Nephrocalcinosis, Splenomegaly, Cardiomyopathy	OMIM:616084
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Cirrhosis, Pulmonary edema, Jaundice, Left ventricular hypert...	ORPHA:57777
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Macrotia, Ventricular septal defect, Coronary sinus enlargement, Long philt...	OMIM:619268
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Purpura, Acrocyanosis, Hepatomegaly, Erythema, Peritonitis, Urticaria	ORPHA:343
Glycogen Storage Disease Ii	Respiratory insufficiency, Urinary incontinence, Macroglossia, Pleural effusion, Hearing impairme...	OMIM:232300
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Non-midline cleft lip, Lip pit, Cleft palate	ORPHA:1072
Martinez-Frias Syndrome	Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ...	OMIM:601346
Chand Syndrome	Imperforate hymen, Bifid tongue, Hydroureter, Commissural lip pit, Abnormal oral frenulum morphol...	ORPHA:1401
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Fat malabsorption, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis wi...	OMIM:211600
Phace Syndrome	Aortic root aneurysm, Abnormal cerebral artery morphology, Abnormal cardiac septum morphology, Ab...	ORPHA:42775
Low Phospholipid-Associated Cholelithiasis	Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c...	ORPHA:69663
Wrinkly Skin Syndrome	Palmoplantar cutis laxa, Delayed eruption of teeth, Microdontia, Progeroid facial appearance, Smo...	OMIM:278250
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Spondylometaphyseal Dysplasia, Sedaghatian Type	Rhizomelic arm shortening, Iliac crest serration, Cone-shaped epiphysis, Short metacarpal, Narrow...	ORPHA:93317
Cardioacrofacial Dysplasia 2	Atrioventricular canal defect, Common atrium	OMIM:619143
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring, Microphthalmia, Protruding ear, Tooth malposition	OMIM:268320
Xeroderma Pigmentosum, Complementation Group B	Cutaneous photosensitivity, Sensorineural hearing impairment, Ventriculomegaly, Progeroid facial ...	OMIM:610651
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta, Facial palsy	OMIM:107550
Goodpasture Syndrome	Cyanosis, Glomerular crescent formation, Bloody bronchoalveolar lavage fluid, Pulmonary hemorrhag...	OMIM:233450
Alpha-Thalassemia	Splenomegaly, Hypersplenism, Jaundice, Cholelithiasis	ORPHA:846
Gaucher Disease, Type Iiic	Splenomegaly, Mitral stenosis, Hydrocephalus, Hepatomegaly, Cardiomegaly, Aortic valve calcificat...	OMIM:231005
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Retrognathia, Dentinogenesis imperfecta, Short toe, Short phalanx of finger, Sensorineural hearin...	OMIM:619269
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology,...	ORPHA:512
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Short toe, Short phalanx of finger, Short femo...	OMIM:609441
Capillary Malformation-Arteriovenous Malformation	Telangiectasia, Neurogenic bladder, Hydrocephalus, Epistaxis, Abnormal heart morphology, Chylotho...	ORPHA:137667
Sickle Cell Disease	Splenic infarction, Jaundice, Hematuria, Hepatomegaly, Cholelithiasis, Cardiomegaly, Renal insuff...	OMIM:603903
Hereditary Cryohydrocytosis With Reduced Stomatin	Short thorax, Hypoglycorrhachia, Jaundice, Communicating hydrocephalus, Hepatosplenomegaly, Brach...	ORPHA:168577
1P21.3 Microdeletion Syndrome	Deeply set eye, Wide mouth, Micrognathia, Short nose, Joint hypermobility, Long ear	ORPHA:293948
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cerebellar atrophy, Cardiomegaly...	OMIM:619259
Incontinentia Pigmenti	Conical tooth, Optic atrophy, Delayed eruption of teeth, Hypodontia, Supernumerary ribs, Oligodon...	OMIM:308300
Ketamine-Induced Biliary Dilatation	Dysuria, Abnormal biliary tract morphology	ORPHA:293807
Medulloblastoma	Neoplasm of the lung, Cerebellar cyst, Hydrocephalus, Elevated hepatic transaminase, Bilateral se...	ORPHA:616
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Pulmonary capillary hemangiomat...	OMIM:193300
Gcgr-Related Hyperglucagonemia	Stomatitis, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis	ORPHA:438274
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Norrie Disease	Macrotia, Sensorineural hearing impairment, Deeply set eye, Optic atrophy, Hypoplasia of the iris...	ORPHA:649
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cyanosis, Hepatic arteriovenous malformation, Spontaneous, recurrent epistaxis, Fingerpad telangi...	OMIM:187300
Familial Aortic Dissection	Patent ductus arteriosus, Exertional dyspnea, Cutis marmorata, Cardiomegaly, Paroxysmal dyspnea	ORPHA:229
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Deeply set eye, Hypoplast...	OMIM:620047
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Sandhoff Disease	Urinary incontinence, Macroglossia, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Death in chil...	OMIM:268800
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Hypogonadism, Bilateral cryptorchidism, Hydrocephalus, Pectus excavatum, Abnorma...	ORPHA:3042
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left...	ORPHA:2248
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Multiple small medullary renal cysts, Osteomalacia, Parathormone-independent increa...	OMIM:600740
Cerebral Visual Impairment	Hydrocephalus, Optic nerve hypoplasia	ORPHA:447788
Atrial Septal Defect, Ostium Secundum Type	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Abnormal mitral valve morphology, ...	ORPHA:99103
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Acrocyanosis, Abnormal renal physiology, Glomerular scler...	OMIM:223900
Noonan Syndrome 2	Atrioventricular canal defect, Ventricular septal defect, Mitral stenosis, Atrial septal defect, ...	OMIM:605275
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Osteoporosis-Pseudoglioma Syndrome	Increased susceptibility to fractures, Ventricular septal defect, Recurrent fractures, Joint hype...	OMIM:259770
Congenital Bile Acid Synthesis Defect Type 4	Hypogonadism, Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cho...	ORPHA:79095
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Apnea, Hydrocephalus, Homocystinuria, Ventriculomegaly	ORPHA:395
Noonan Syndrome With Multiple Lentigines	Atrioventricular canal defect, Abnormal mitral valve morphology, Mitral valve prolapse, Hypertrop...	ORPHA:500
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L...	ORPHA:220460
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Unroofed coronary sinus, Increased...	ORPHA:99104
Treacher Collins Syndrome 1	Conductive hearing impairment, Cleft soft palate, Wide mouth, Microtia, Abnormal parotid gland mo...	OMIM:154500
Pyknoachondrogenesis	Horizontal ribs, Enlarged thorax, Short thorax, Short ribs, Short long bone, Aplastic pubic bones...	ORPHA:3003
Posterior Meningocele	Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Enuresis, Lipomyelomeningo...	ORPHA:268810
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Deeply set eye	ORPHA:3044
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Genu varum, Conductive hearing impairment, Short femoral neck, Short foot,...	ORPHA:2502
Familial Dysautonomia	Glomerulopathy, Abnormal pleura morphology, Abnormality of the kidney, Acrocyanosis, Abnormality ...	ORPHA:1764
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Microdontia, Pulp calc...	OMIM:606895
Craniofacial-Deafness-Hand Syndrome	Sensorineural hearing impairment, Short nose, Hypoplasia of the maxilla, Hypertelorism, Ulnar dev...	OMIM:122880
Coloboma, Ocular, Autosomal Dominant	Vesicoureteral reflux, Optic nerve aplasia, Microphthalmia, Ventriculomegaly	OMIM:120200
Myasthenia Gravis	Glycosuria, Hepatitis, Acrocyanosis, Dyspnea, Hearing impairment	ORPHA:589
Cryptococcosis	Cirrhosis, Nodular pattern on pulmonary HRCT, Hydrocephalus, Respiratory distress, Pleural effusi...	ORPHA:1546
Ectodermal Dysplasia-Blindness Syndrome	Hearing impairment, Microphthalmia, Protruding ear, Abnormality of the dentition	ORPHA:1806
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules, Glutaric aciduria, Chronic k...	ORPHA:25
Postinfectious Vasculitis	Bacterial endocarditis, Palpable purpura, Hematuria, Recurrent streptococcus pneumoniae infection...	ORPHA:48435
Kenny-Caffey Syndrome, Type 2	Anemia, Abnormality of the medullary cavity of the long bones, Increased bone mineral density, Th...	OMIM:127000
Hereditary Hemorrhagic Telangiectasia	Hepatic failure, Cirrhosis, Hematuria, Intestinal polyposis, Cholecystitis, Esophageal varix, Por...	ORPHA:774
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Increased CSF protein concentration	ORPHA:209956
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Immunodeficiency 96	Increased mean corpuscular volume, Multicystic kidney dysplasia, Increased proportion of gamma-de...	OMIM:619774
Cleft Larynx, Posterior	Cyanosis, Aspiration	OMIM:215800
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Wide nasal bridge, Hypoplasia of the iris, Microdontia, Hypodontia, Oligodontia, ...	OMIM:180500
Unilateral Polymicrogyria	Cyanosis, Infantile sensorineural hearing impairment, Perisylvian polymicrogyria, Pulmonary arter...	ORPHA:268943
Protoporphyria, Erythropoietic, 1	Hepatic failure, Cholelithiasis	OMIM:177000
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Recurrent urinary tract infections, Malabsorption, Biliary tract abnormality, Ch...	OMIM:209920
Eosinophilic Fasciitis	Fasciitis, Acrocyanosis, Cellulitis	ORPHA:3165
Sturge-Weber Syndrome	Pulmonary embolism, Chiari malformation, Hydrocephalus, Conjunctival telangiectasia, Gingival ove...	ORPHA:3205
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Cholelithiasis, Hepatomegaly, Intrahepatic cholestasis	OMIM:605479
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Microphthalmia, Retinal arteriolar occlusion	OMIM:193220
Neurofibromatosis Type 1	Multiple lipomas, Genu valgum, Genu varum, Slender long bone, Abnormality of the upper urinary tr...	ORPHA:636
Porphyria, Congenital Erythropoietic	Red urine, Joint contracture of the hand, Jaundice, Pink urine, Erythrodontia, Hepatomegaly, Chol...	OMIM:263700
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Deeply set eye, Long philtrum, Thick lower lip vermilion, Narrow mouth, Palpebral edema, Mesioden...	ORPHA:314647
Fanconi Anemia, Complementation Group Q	Biliary atresia, Absent thumb, Esophageal atresia, Anteriorly placed anus, Primum atrial septal d...	OMIM:615272
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Fat malabsorption, Cholelithiasis, Steatorrhea	ORPHA:309108
Oculoauricular Syndrome	Macular hypoplasia, Spina bifida occulta, Microphthalmia, Low-set ears, Stenosis of the external ...	OMIM:612109
Blepharophimosis, Ptosis, And Epicanthus Inversus	Cupped ear, High palate, Microphthalmia, Wide nasal bridge	OMIM:110100
Meningioma	Urinary incontinence, Neoplasm of the tongue, Abnormal cerebellum morphology, Hydrocephalus, Brai...	ORPHA:2495
Cardiac Valvular Dysplasia 2	Subvalvular aortic stenosis, Dysplastic aortic valve, Bicuspid aortic valve, Pulmonary artery dil...	OMIM:620067
Hypermobile Ehlers-Danlos Syndrome	Gingivitis, Aplasia/Hypoplasia of the abdominal wall musculature, Microdontia, Hip dislocation, G...	ORPHA:285
Telangiectasia, Hereditary Hemorrhagic, Type 2	Pulmonary arterial hypertension, Palate telangiectasia, Cirrhosis, Hepatic arteriovenous malforma...	OMIM:600376
Acquired Purpura Fulminans	Macular purpura, Hepatic failure, Acrocyanosis	ORPHA:49566
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Omphalocele Syndrome, Shprintzen-Goldberg Type	Neonatal respiratory distress, Thin upper lip vermilion, Omphalocele, Downturned corners of mouth	ORPHA:3164
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Encephalocraniocutaneous Lipomatosis	Abnormal aortic morphology, Interrupted aortic arch, Craniofacial hyperostosis, Coarctation of ao...	ORPHA:2396
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Splenomegaly, Hepatitis, Hemoglobinuria, Jaundice, Hepatomegaly, Cholelithiasis	OMIM:194380
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Pigment gallstones, Cholelithiasis	OMIM:613470
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon, Micrognathia, Bifid uvula, Abs...	OMIM:601374
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Partial atrioventricular canal defect, Ventricular septal defect, Ventriculomegaly, Bicuspid aort...	OMIM:620066
Grfoma	Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P...	ORPHA:97261
Cimdag Syndrome	Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cutaneous photosensitivity, Hydrocephalus, Prematurely aged appearance, Hearing impairment, Urtic...	ORPHA:220295
Mitchell-Riley Syndrome	Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol...	OMIM:615710
Shprintzen Omphalocele Syndrome	Neonatal respiratory distress, Thin vermilion border, Omphalocele	OMIM:182210
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, High palate, Micrognathia, Prominence of the premaxilla, Pulmonary art...	OMIM:614437
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Increased circulating prolactin concentration, Abnormality of the sphen...	ORPHA:91350
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Nephrotic syndrome, Macular hypoplasia, Hypoplasi...	OMIM:609049
Attrv122I Amyloidosis	Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertrophic cardi...	ORPHA:85451
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Glycogen Storage Disease Xii	Elevated circulating alanine aminotransferase concentration, Hemoglobinuria, Jaundice, Cholecysti...	OMIM:611881
Dermatomyositis	Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morph...	ORPHA:221
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiomegaly, Right atrial enlargement	OMIM:614473
Craniopharyngioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o...	ORPHA:54595
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Distal upper limb muscle weakness, Pollakisuria, Limited elbow movement, Scapular winging, Proxim...	ORPHA:268
Familial Adenomatous Polyposis	Adenocarcinoma of the small intestine, Cholangiocarcinoma, Hepatoblastoma, Pancreatic adenocarcin...	ORPHA:733
Generalized Pseudohypoaldosteronism Type 1	Recurrent upper and lower respiratory tract infections, Cholelithiasis	ORPHA:171876
Pyruvate Kinase Deficiency Of Red Cells	Splenomegaly, Jaundice, Cholecystitis, Hepatomegaly, Cholelithiasis	OMIM:266200
Isolated Arrhinia	Aplasia of the nose, Microtia, Hypoplasia of the nasal bone, Hypertelorism, Microphthalmia	ORPHA:1134
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Hereditary Spherocytosis	Restrictive cardiomyopathy, Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly	ORPHA:822
Full Nf2-Related Schwannomatosis	Sensorineural hearing impairment, Abnormal cerebellum morphology, Hydrocephalus, Brain stem compr...	ORPHA:637
Anterior Segment Dysgenesis 5	Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia	OMIM:604229
Linear Nevus Sebaceus Syndrome	Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation, Microphthalmia, Ventriculomegaly	ORPHA:2612
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis	OMIM:235700
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca...	OMIM:601214
Hyperoxaluria, Primary, Type I	Calcium oxalate nephrolithiasis, Hematuria, Acrocyanosis, Cutis marmorata, Nephrocalcinosis, Rena...	OMIM:259900
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Conical tooth, Everted upper lip vermilion, Microdontia, Hypodontia, Taurodontia, Short nose, Eve...	OMIM:305100
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Mild fetal ventriculomegaly, Talipes equin...	ORPHA:273
Ppoma	Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P...	ORPHA:97278
10Q22.3Q23.3 Microdeletion Syndrome	Atrioventricular canal defect, Tricuspid valve prolapse	ORPHA:276413
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Hearing impairment	OMIM:618838
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia	ORPHA:565899
Sickle Cell Anemia	Abnormality of the spleen, Cholestasis, Pigment gallstones	ORPHA:232
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Papillary renal cell carcinoma, Abnormality of the pulmonary artery, Emp...	ORPHA:363618
Oculopalatocerebral Syndrome	Cleft palate, Microphthalmia	OMIM:257910
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Corneal scarring, Microphthalmia	OMIM:212550
Aortic Valve Disease 1	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp...	OMIM:109730
Neurofibroma	Neoplasm of the trachea, Multiple intestinal neurofibromatosis, Abnormal biliary tract morphology...	ORPHA:252183
Triosephosphate Isomerase Deficiency	Jaundice, Cholecystitis, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly	OMIM:615512
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi...	OMIM:612576
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Danon Disease	Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca...	OMIM:300257
Distal Monosomy 3P	Atrioventricular canal defect	ORPHA:1620
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis	OMIM:182900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro...	ORPHA:209902
Autosomal Dominant Keratitis	Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, A...	ORPHA:2334
Xeroderma Pigmentosum, Complementation Group D	Cutaneous photosensitivity, Telangiectasia, Sensorineural hearing impairment, Microphthalmia	OMIM:278730
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Joubert Syndrome 38	Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Downturned corners of mouth, Low-...	OMIM:619476
Norrie Disease	Sensorineural hearing impairment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Thick vermilion border, Telangiectasia of the oral mucosa, Tinnitus, Telangiectasia of the skin, ...	ORPHA:79280
Familial Idiopathic Dilatation Of The Right Atrium	Atrial septal dilatation, Pleural effusion, Dyspnea, Hepatomegaly, Abnormality of the hepatic vas...	ORPHA:1677
Dehydrated Hereditary Stomatocytosis	Intermittent jaundice, Splenomegaly, Portal vein thrombosis, Cholelithiasis	ORPHA:3202
Anterior Segment Dysgenesis 2	Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia	OMIM:610256
Immunodeficiency 87 And Autoimmunity	Atrioventricular canal defect, Biventricular hypertrophy, Dilated cardiomyopathy, Atrial septal d...	OMIM:619573
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Hereditary Elliptocytosis	Splenomegaly, Jaundice, Prolonged neonatal jaundice, Cholelithiasis	ORPHA:288
Telangiectasia, Hereditary Hemorrhagic, Type 4	Cyanosis, Palate telangiectasia, Nasal mucosa telangiectasia, Pulmonary arteriovenous malformatio...	OMIM:610655
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Hepatic failure, Abnormal pulmonary interstitial morphology, Hypersplenism, Neoplasm o...	ORPHA:77293
Gallbladder Neuroendocrine Tumor	Intermittent jaundice, Extrahepatic cholestasis, Biliary tract neoplasm, Biliary tract obstructio...	ORPHA:100086
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Peripapillary atrophy, Ischemic stroke, Cerebral hemorrhage, Dilation of Virchow-Robin spaces, Hy...	OMIM:175780
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect	ORPHA:3047
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi...	ORPHA:75565
Cerebrotendinous Xanthomatosis	Cholelithiasis	OMIM:213700
Persistent Hyperplastic Primary Vitreous	Macular hypoplasia, Buphthalmos, Microphthalmia, Phthisis bulbi	ORPHA:91495
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Testes - process of degenerative change	Mks1^{tm1a(EUCOMM)Wtsi}	HET		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mks1.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Mks1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Mks1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.	Cell (July 2013)	Mks1^{tm1a(EUCOMM)Wtsi}	PMC3717207
Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.	Developmental biology (February 2013)	Mks1^{tm1a(EUCOMM)Wtsi}	23454480

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MGI Allele	Allele Type	Produced
Mks1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Mks1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Mks1 MGI:3584243

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Mks1 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data