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Gene: Ift25 MGI:1920188

Gene Summary

Name:

intraflagellar transport 25

Synonyms:

Hspb11, 2900042B11Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
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	Allele	Zyg	Life Stage	P Value
increased circulating free fatty acids level	Ift25^{tm1a(EUCOMM)Wtsi}	HET	Early adult	9.08×10^-07
preweaning lethality, complete penetrance	Ift25^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating LDL cholesterol level	Ift25^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.21×10^-06
increased circulating glycerol level	Ift25^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.23×10^-05

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	0.0% (0 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
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	Not available
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 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	0.0% (0 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	100% (2 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
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.

Legacy Phenotype Associated Images

Hspb11^{tm1a(EUCOMM)Wtsi}
HET, Female, WTSI

Hspb11^{tm1a(EUCOMM)Wtsi}
head, HET, Female, WTSI

Hspb11^{tm1a(EUCOMM)Wtsi}
body, HET, Female, WTSI

Hspb11^{tm1a(EUCOMM)Wtsi}
forearm, WT, Male, WTSI

View all 174 images

Human diseases caused by Ift25 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 Ift25 (0 diseases)
Human diseases predicted to be associated with Ift25 (1317 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ift25 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Congenital Absence Of Upper Arm And Forearm With Hand Present	Congenital malformation of the great arteries, Polydactyly, Abnormal cardiac septum morphology, U...	ORPHA:294975
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Lethal Congenital Contracture Syndrome 10	Narrow palate, Ventricular septal defect, High palate, Short long bone, Long philtrum, Micrognath...	OMIM:617022
Conotruncal Heart Malformations	Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Complete a...	OMIM:217095
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Patent ductus arteriosus, Double outlet right ventricle, 2-3 toe syndactyly, Cyanosis, High palat...	ORPHA:3304
Cardioacrofacial Dysplasia 1	Conical tooth, Atrioventricular canal defect, Genu valgum, Short philtrum, Diastema, Hypoplasia o...	OMIM:619142
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem...	ORPHA:79506
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Coarctation of aorta, Bro...	OMIM:217085
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Ventricular septal defect, Rhizomelia, Micrognathia, Short philtrum, Downturned corn...	ORPHA:93267
Orofaciodigital Syndrome Xviii	Genu valgum, Short stature, Short philtrum, Diastema, Cervical ribs, Accessory oral frenulum, Sin...	OMIM:617927
Syndactyly Type 2	Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S...	ORPHA:93403
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Patent ductus arteriosus, Retrognathia, High palate, Ventricular septal defect, Hypoplastic right...	OMIM:618142
Synpolydactyly 1	Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl...	OMIM:186000
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Pseudotrisomy 13 Syndrome	11 pairs of ribs, 2-3 toe syndactyly, Cleft upper lip, Encephalocele, Ventricular septal defect, ...	OMIM:264480
Fetal Encasement Syndrome	Bilateral trilobed lung, Upper limb undergrowth, Lower limb undergrowth, Congenital diaphragmatic...	OMIM:613630
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Atrioventricular canal defect, Cyanosis, Abdominal situs inversus, B...	OMIM:306955
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephal...	OMIM:220210
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:144300
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Cleft upper lip, Foot oligodactyly, Ventricular septal defect, Anterior encephalocele, Bilateral ...	OMIM:601357
Polydactyly, Preaxial Ii	Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t...	OMIM:174500
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal...	OMIM:613854
Carpenter Syndrome 1	Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, Metatarsus adductus, ...	OMIM:201000
Genitopalatocardiac Syndrome	Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Micrognathia, Cleft pa...	OMIM:231060
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Genu varum, Mandibular prognathia, Arteriovenous malformation, Abnormal aortic arch morphology, D...	ORPHA:1110
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology...	ORPHA:1354
Right Atrial Isomerism	Right atrial isomerism, Abdominal situs ambiguus, Ventricular septal defect, Common atrium, Abnor...	OMIM:208530
Catel-Manzke Syndrome	Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Short stature, Micrognathi...	ORPHA:1388
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal mitral valve morphology, Micrognathia, Hernia of the abdominal wall, Abnormal palate mor...	ORPHA:1277
Tricuspid Atresia	Cyanosis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, A...	ORPHA:1209
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Horizontal ribs, Hypoplastic ilia, Ventricular septal defect, Short ribs, Hypoplasia of the radiu...	OMIM:617895
Catel-Manzke Syndrome	Micrognathia, Bifid uvula, Camptodactyly, Short femur, Hyperphalangy of the 2nd finger, Ulnar dev...	OMIM:616145
Recombinant Chromosome 8 Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac...	OMIM:179613
Eng-Strom Syndrome	Camptodactyly of finger, Ventricular septal defect, Short stature, Abnormal cardiac septum morpho...	ORPHA:1937
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi...	OMIM:613751
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Abnormal cardiac septum morphology, Hypoplastic frontal sinuses, Microgn...	ORPHA:90652
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Omphalocele, Coxa valga, Abnormal cardiac septum...	ORPHA:2484
Acalvaria	Spina bifida, Hydrocephalus, Abnormal lung lobation, Holoprosencephaly, Postaxial hand polydactyl...	ORPHA:945
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Triphalangeal thumb, Preaxial hand polyd...	ORPHA:1120
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary hypoplasia, Overlapping toe, Smooth philtrum, Cutaneous syndactyly, Patent foramen oval...	OMIM:618316
Chromosome 1P36 Deletion Syndrome, Proximal	Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ...	OMIM:619343
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Pentalogy Of Cantrell	Abnormal pericardium morphology, Non-midline cleft lip, Encephalocele, Ventricular septal defect,...	ORPHA:1335
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ...	ORPHA:2141
Hyperlipidemia, Familial Combined, 3	Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote...	OMIM:144250
Kagami-Ogata Syndrome	Patent ductus arteriosus, Retrognathia, Flexion contracture, Coxa valga, Ventricular septal defec...	OMIM:608149
Bowen-Conradi Syndrome	Camptodactyly of finger, Short stature, Death in infancy, Micrognathia, Abnormal lung lobation, C...	ORPHA:1270
Feingold Syndrome 2	2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short stat...	OMIM:614326
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia	OMIM:232700
Fibrochondrogenesis 1	Dumbbell-shaped long bone, Camptodactyly, Cleft palate, Narrow greater sciatic notch, Short palm,...	OMIM:228520
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Patent foramen ovale, Double outlet right ventricle, 2-3 toe syndactyly, Ventricular septal defec...	ORPHA:477817
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Horizontal ribs, Neonatal death, Hypoplastic pubic bone, Natal tooth, Short long bon...	OMIM:617925
Pierre Robin Syndrome	Pierre-Robin sequence, Micrognathia, Cor pulmonale, Cleft palate, Glossoptosis	OMIM:261800
Triploidy	Meningocele, Non-midline cleft lip, Finger syndactyly, Abnormal cardiac septum morphology, Wide m...	ORPHA:3376
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Cleft soft palate, Long philtrum, Short stature, Bicuspid aortic valve, Micrognat...	OMIM:618529
Hamamy Syndrome	Tapered finger, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Hip dysplasia, Atrial...	OMIM:611174
Bullous Dystrophy, Hereditary Macular Type	Tapered finger, Short finger, Acrocyanosis, Severe short stature, Death in childhood	OMIM:302000
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Short toe, Aplasia of the distal phalanges of the toes, Ventricular sep...	OMIM:615297
Santos Syndrome	Polydactyly, Genu valgum, Short stature, Talipes equinovarus, Oligodactyly, Metatarsus adductus, ...	OMIM:613005
Boomerang Dysplasia	Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the abdominal wall musculature, Finger sy...	ORPHA:1263
Fetal Minoxidil Syndrome	Micrognathia, Clinodactyly of the 5th finger, Ventricular septal defect, Umbilical hernia	ORPHA:1918
Short-Rib Thoracic Dysplasia 12	Horizontal ribs, Pulmonary hypoplasia, Median cleft lip, Holoprosencephaly, Limb undergrowth, Sho...	OMIM:269860
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Short tibia, Horizontal ribs, Bifid tongue, Hypoplastic facial bones, Pulmonary hypoplasia, Cleft...	OMIM:616300
C Syndrome	Patent ductus arteriosus, High palate, Ventricular septal defect, Short metacarpal, Wide mouth, T...	OMIM:211750
Down Syndrome	Atrioventricular canal defect, Pulmonary artery stenosis, Short palm, Hypoplastic iliac wing, Dou...	OMIM:190685
Chromosome 9P Deletion Syndrome	Tapered finger, Micrognathia, Clinodactyly of the 5th toe, Hallux varus, Narrow palate, Ventricul...	OMIM:158170
Pseudodiastrophic Dysplasia	Rhizomelia, Elbow dislocation, Phalangeal dislocation, Malar flattening, Omphalocele, Talipes equ...	ORPHA:85174
Mosaic Trisomy 1	Camptodactyly of finger, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion contracture, Pulmon...	ORPHA:1692
Trisomy 1Q	Patent ductus arteriosus, Camptodactyly of finger, Preaxial hand polydactyly, Ventricular septal ...	ORPHA:261344
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Thin up...	OMIM:601927
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Patent ductus arteriosus, Double outlet right ventricle, Short long bone, Death in infancy, Bicus...	OMIM:618845
Polydactyly, Postaxial, Type A1	Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly	OMIM:174200
Feingold Syndrome Type 2	Ventricular septal defect, Jejunal atresia, Short stature, Toe syndactyly, Brachydactyly, Short t...	ORPHA:391646
Polydactyly, Preaxial Iv	1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ...	OMIM:174700
Heterotaxy, Visceral, 12, Autosomal	Abdominal situs ambiguus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal...	OMIM:619702
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Flexion contracture, Short long bone, Micrognathia, Abnormal lung lobation, Pulmona...	OMIM:263210
Mesoaxial Hexadactyly And Cardiac Malformation	Patent ductus arteriosus, Ventricular septal defect, Short stature, Hand polydactyly, Atrial sept...	OMIM:249670
Focal Dermal Hypoplasia	Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Upper limb asymmetry...	ORPHA:2092
Mmep Syndrome	Triphalangeal thumb, Mandibular prognathia, Ventricular septal defect, Median cleft lip, Split fo...	ORPHA:3434
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bifid uvula, Hydrocephalus, Cleft palate, Omphalocele	OMIM:258320
Otopalatodigital Syndrome, Type I	Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Selective tooth agene...	OMIM:311300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Diastasis recti, Ventricular septal defect, Abnormal heart morphology, ...	ORPHA:254534
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Aqueductal stenosis, Radial bowing, Micrognathia, Pulmonary hypoplasia, Lower limb u...	ORPHA:3035
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Spina bifida, Gastroschisis, Anen...	ORPHA:2476
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Deep philtrum, T...	ORPHA:261120
Apert Syndrome	Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus, Bifid uvula, Postaxial hand pol...	OMIM:101200
Distal Trisomy 15Q	Camptodactyly of finger, High palate, Long philtrum, Micrognathia, Anal atresia, Downturned corne...	ORPHA:1707
Sonoda Syndrome	Narrow mouth, High axial triradius, Ventricular septal defect, Short stature	OMIM:270460
Pierre Robin Sequence With Facial And Digital Anomalies	Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Microg...	OMIM:311895
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Foot polydactyly, Abnormality of the humerus, Hypoplasia of the ...	ORPHA:3186
Hydrolethalus Syndrome 1	Severe hydrocephalus, Preaxial hand polydactyly, Upper limb undergrowth, Ventricular septal defec...	OMIM:236680
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Short stature, Short long bone, Short ribs, Pulmonary hypoplasia, Femo...	OMIM:615503
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	2-3 toe syndactyly, Aplasia of the 1st metacarpal, Unilateral radial aplasia, Tapered finger, Eru...	ORPHA:476126
Microcephaly-Cardiomyopathy Syndrome	Ventricular septal defect, Short stature, Clinodactyly of the 5th finger, Dilated cardiomyopathy,...	ORPHA:2515
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular septal defect, Short statu...	ORPHA:1166
Double Outlet Right Ventricle	Cyanosis, Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Short sta...	ORPHA:3426
Maternal Phenylketonuria	Double outlet right ventricle, Bifid distal phalanx of the thumb, High palate, Ventricular septal...	ORPHA:2209
Vacterl/Vater Association	Non-midline cleft lip, Preaxial hand polydactyly, Finger syndactyly, Abnormal cardiac septum morp...	ORPHA:887
Joubert Syndrome 18	Retrognathia, Lobulated tongue, Ventricular septal defect, Arrhinencephaly, Camptodactyly, Intrau...	OMIM:614815
Ivic Syndrome	Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop...	OMIM:147750
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect...	OMIM:619657
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Death in infancy, Jaundice, Epiphyseal stippling, Glossoptosis	OMIM:614876
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Small hand, Ventricular septal defect, Natal tooth, Long philtrum, Microgna...	OMIM:145420
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased circulating free fatty acid level	ORPHA:293964
Meckel Syndrome, Type 2	Meningocele, Polydactyly, Encephalocele, Anencephaly, Intestinal malrotation, Postaxial hand poly...	OMIM:603194
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Robinow Syndrome, Autosomal Dominant 3	Short phalanx of finger, Bifid tongue, Micrognathia, Camptodactyly, Cleft palate, Gingival overgr...	OMIM:616894
Holt-Oram Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Absent thumb, Triphalangeal thumb, Abnor...	ORPHA:392
Mullegama-Klein-Martinez Syndrome	Polydactyly, Long philtrum, Abnormal cardiac septum morphology, Short stature, Micrognathia, Clin...	OMIM:301022
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Atrial septal de...	OMIM:616546
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly, Thin vermilion border, Tetralogy of Fallot, Intrau...	ORPHA:3303
Nemaline Myopathy 9	High palate, Ventricular septal defect, Micrognathia, Cleft palate, Arthrogryposis multiplex cong...	OMIM:615731
Trisomy 18	Camptodactyly of finger, Non-midline cleft lip, Narrow pelvis bone, Holoprosencephaly, Postaxial ...	ORPHA:3380
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Fryns Syndrome	Non-midline cleft lip, Abnormal cardiac septum morphology, Ectopic anus, Micrognathia, Pulmonary ...	ORPHA:2059
Orofaciodigital Syndrome Xvii	Retrognathia, Polydactyly, Short stature, Short middle phalanx of the 2nd finger, Clinodactyly, C...	OMIM:617926
Polydactyly, Preaxial I	Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu...	OMIM:174400
Orofaciodigital Syndrome Type 10	Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Hypoplasia of proximal radiu...	ORPHA:2756
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Preaxial hand polydactyly, High palate, Abnormality of the elbow, Rhizomelia...	ORPHA:3098
Orofaciodigital Syndrome Type 6	Lobulated tongue, High palate, Short stature, Tongue nodules, Foot polydactyly, Micrognathia, Mes...	ORPHA:2754
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Spina...	ORPHA:1908
Phenobarbital Embryopathy	Mandibular prognathia, Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Brachydac...	ORPHA:1919
Chromosome 10Q26 Deletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Short stature, Toe syndactyly, Micrognathia...	OMIM:609625
Meier-Gorlin Syndrome 7	2-3 toe syndactyly, Preaxial hand polydactyly, High palate, Ventricular septal defect, Short stat...	OMIM:617063
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch...	OMIM:618254
Congenitally Uncorrected Transposition Of The Great Arteries	Patent ductus arteriosus, Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology, ...	ORPHA:860
Hallux Varus And Preaxial Polysyndactyly	Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus	OMIM:234280
Miller-Dieker Lissencephaly Syndrome	Thick upper lip vermilion, Polydactyly, Joint contracture of the hand, Delayed eruption of teeth,...	OMIM:247200
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab...	ORPHA:3269
Constricting Bands, Congenital	Cleft upper lip, Encephalocele, Gastroschisis, Abnormal lung lobation, Hand polydactyly, Ectopia ...	OMIM:217100
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Micrognathia, Abnormal...	ORPHA:2516
3Mc Syndrome 1	Patent ductus arteriosus, Cleft upper lip, Diastasis recti, Short 5th finger, Ventricular septal ...	OMIM:257920
Perching Syndrome	Cyanosis, Joint contracture, Camptodactyly, High palate	OMIM:617055
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Knee flexion contracture, Preaxial hand polydactyly, Long philtrum, Short stature, Thin upper lip...	OMIM:606242
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Retrognathia, Ventricular septal defect, Hydrocephalus, Bifid uvula, Cu...	OMIM:612938
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Micrognathia, Bifid uvula, Camptodactyly, Spina bifida occulta, Cleft...	OMIM:300373
Diamond-Blackfan Anemia 6	Patent ductus arteriosus, Ventricular hypertrophy, Triphalangeal thumb, Retrognathia, Cleft upper...	OMIM:612561
Syndactyly, Type Iv	Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ...	OMIM:186200
Primary Pulmonary Hypoplasia	Cyanosis, Patellar hypoplasia, Pneumothorax, Micrognathia, Secundum atrial septal defect, Hypoxem...	ORPHA:2257
Scimitar Syndrome	Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out...	ORPHA:185
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corner...	ORPHA:94066
3C Syndrome	Atrioventricular canal defect, Ectopic anus, Micrognathia, Cleft palate, Postnatal growth retarda...	ORPHA:7
Ventricular Septal Defect 1	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall...	OMIM:614429
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Atrioventricular canal defect, Micrognathia, Posterior rib fusion, Pulmonary artery dilatation, P...	OMIM:265380
Greig Cephalopolysyndactyly Syndrome	Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Camptodactyl...	OMIM:175700
Acropectoral Syndrome	Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx	OMIM:605967
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Tran...	OMIM:616749
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Cleft maxillary alveolar rid...	ORPHA:508488
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ...	OMIM:615779
Miller-Dieker Syndrome	Omphalocele, Clinodactyly of the 5th finger, Growth delay, Abnormal upper lip morphology	ORPHA:531
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Horizontal ribs, Bifid tongue, Cleft palate, Talipes equinovarus, Short ribs, Absent tibia, Hypop...	OMIM:613091
Short-Rib Thoracic Dysplasia 18 With Polydactyly	2-3 toe syndactyly, Short ribs, Radial bowing, Micrognathia, Missing ribs, Ulnar bowing, Micromel...	OMIM:617866
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Arthrogryposis, Distal, Type 1C	Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Cleft...	OMIM:619110
D-Glyceric Aciduria	Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia	ORPHA:941
Thoracoabdominal Syndrome	Patent ductus arteriosus, Cleft upper lip, Ventral hernia, Anencephaly, Hydrocephalus, Ectopia co...	OMIM:313850
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Clinodactyly of the 5th finger, Pulmonary hypoplasia, Intestinal malrotation, Syn...	OMIM:601163
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Cardioacrofacial Dysplasia 2	Conical tooth, Atrioventricular canal defect, Genu valgum, Mandibular prognathia, Deep philtrum, ...	OMIM:619143
Primary Ciliary Dyskinesia	Double outlet right ventricle, Respiratory tract infection, Bronchiectasis, Hydrocephalus, Peribr...	ORPHA:244
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Wrist flexion contracture, Coat hanger sign of ribs, Flexion contracture, Diastasis...	ORPHA:254528
Lambotte Syndrome	Retrognathia, Ventricular septal defect, Preaxial foot polydactyly, Semilobar holoprosencephaly, ...	OMIM:245552
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short tibia, Flexion contracture, Coxa valga, Spinal dysraphism, Micrognathia, Epiphyseal stippli...	ORPHA:96334
Lambert Syndrome	Branchial anomaly, Ventricular septal defect, Wide mouth, Jaundice, Inguinal hernia, Malar flatte...	ORPHA:1296
Biemond Syndrome Type 2	Delayed puberty, Preaxial polydactyly, Hydrocephalus, Short stature	ORPHA:141333
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper...	OMIM:616829
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Hernia, Ventricular septal defect, Hydrocephalus, Cutis marmorata, Syndactyly, Smoot...	OMIM:602501
Mucolipidosis Type Iii	Short stature, Large iliac wing, Hypoplastic inferior ilia, Abnormal aortic valve morphology, Cra...	ORPHA:577
Truncus Arteriosus	Cyanosis, Truncus arteriosus, Pulmonary hypoplasia, Aplasia/hypoplasia involving bones of the ext...	ORPHA:3384
Cardiac Diverticulum	Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu...	ORPHA:1686
Partial Atrioventricular Septal Defect	Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B...	ORPHA:1330
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel...	ORPHA:3329
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Aganglionic megacolon, Ventricular septal defect, Polysyndactyly of ha...	OMIM:235750
Heterotaxy, Visceral, 6, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ...	OMIM:614779
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Tarp Syndrome	Cyanosis, Micrognathia, Pulmonary hypoplasia, Alveolar ridge overgrowth, Hypoplasia of proximal r...	ORPHA:2886
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of the premaxilla, Abnormal cardiac septum morphology, Micrognathia, Hy...	ORPHA:2166
Suleiman-El-Hattab Syndrome	Patent foramen ovale, Polydactyly, High palate, Ventricular septal defect, Long philtrum, Wide mo...	OMIM:618950
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Atrial septal defect, Tongue fasciculations, Recurrent respiratory inf...	OMIM:253300
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Double outlet right ventricle, Abnormal hand morphology, Ventricular septal defect, Bicuspid aort...	ORPHA:371428
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat...	OMIM:309350
Orofaciodigital Syndrome Vi	Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly...	OMIM:277170
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Wi...	OMIM:619717
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Codas Syndrome	Short phalanx of finger, Atrioventricular canal defect, Genu valgum, Enamel hypoplasia, Ventricul...	OMIM:600373
Phaver Syndrome	Camptodactyly of finger, Triphalangeal thumb, Myelomeningocele, Ventricular septal defect, Pulmon...	ORPHA:2876
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Ventricular septal defect, Short stature, ...	OMIM:600987
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Growth delay, Omphalocele	OMIM:614450
Cranioacrofacial Syndrome	Pulmonic stenosis, Dupuytren contracture, Abnormal hand morphology, Ventricular septal defect	OMIM:122850
Preaxial Hallucal Polydactyly	Preaxial foot polydactyly, Preaxial hand polydactyly	OMIM:601759
Neuralgic Amyotrophy	Short stature, Acrocyanosis, Narrow mouth, Scapular winging, Cleft palate	ORPHA:2901
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Schisis Association	Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Congenital dia...	ORPHA:63862
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
16P13.11 Microduplication Syndrome	Ventricular septal defect, Hand polydactyly, Atrial septal defect, Coarctation of aorta, Arachnod...	ORPHA:261243
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Small hand, Micrognathia, Clinodactyly, Downturned corners of mouth, Abnormal heart morphology, I...	ORPHA:254525
Holzgreve Syndrome	Hypoplastic left heart, Cleft palate, Cleft upper lip, Hand polydactyly	OMIM:236110
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Micrognathia, Elbow contracture, Broad hallux, Short hallux, Postaxial hand polyd...	OMIM:304120
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Enterocolitis, Ventricular septal defect, Jejunal atresia, Death in infancy, D...	OMIM:243150
Syndactyly-Polydactyly-Earlobe Syndrome	Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2...	OMIM:186350
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Retrognathia, Double outlet right ventricle, Coxa valga, Ventricular septal defect, Short stature...	OMIM:301056
Filippi Syndrome	Ventricular septal defect, Microdontia, Abnormality of dental morphology, Hypodontia, Short philt...	OMIM:272440
Pentasomy X	Patent ductus arteriosus, Camptodactyly of finger, Small hand, Abnormal cardiac septum morphology...	ORPHA:11
Frontonasal Dysplasia 1	Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Hypoplasti...	OMIM:136760
Pelger-Huet Anomaly	Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Ventricular septal defect, Short 5th m...	OMIM:169400
Fibrochondrogenesis	Camptodactyly of finger, Broad ribs, Short stature, Short ribs, Micromelia, Abnormal diaphysis mo...	ORPHA:2021
Hamel Cerebro-Palato-Cardiac Syndrome	Short stature, Death in infancy, Micrognathia, Atrial septal defect, Narrow mouth, Arachnodactyly...	ORPHA:93946
Leopard Syndrome 1	Subvalvular aortic stenosis, Mandibular prognathia, Limited elbow movement, Short stature, Mitral...	OMIM:151100
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Coxa vara, Long philtrum, Short stature, Hip dysplasia, Preaxial...	ORPHA:1988
Cardiocranial Syndrome, Pfeiffer Type	Plantar flexion contracture, Short stature, Cutaneous syndactyly of toes, Temporomandibular joint...	ORPHA:2872
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Isomerism, Esophageal atresia, Hydrocephalus, Hand polydactyly, Sh...	OMIM:314390
Distal Monosomy 15Q	Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Pulmonary hypopl...	ORPHA:1596
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, ...	ORPHA:2143
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Radioulnar dislocation, High palate, Hypoplastic ilia, Abnormality of the elbow, Short stature, H...	ORPHA:93359
Fryns Syndrome	Camptodactyly, Pulmonary hypoplasia, Cleft palate, Aplasia of the left hemidiaphragm, Rocker bott...	OMIM:229850
Duane-Radial Ray Syndrome	Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Vascular d...	OMIM:607323
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Tapered fing...	ORPHA:251071
Acrocallosal Syndrome	Tapered finger, Everted upper lip vermilion, Abnormal cardiac septum morphology, Toe syndactyly, ...	OMIM:200990
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Ventricular septal defect, Long philtrum, Atrial septal defect, Dislocated ra...	ORPHA:401935
Lethal Faciocardiomelic Dysplasia	Patent ductus arteriosus, Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radi...	ORPHA:1972
Fetal Valproate Spectrum Disorder	Long philtrum, Downturned corners of mouth, Narrow mouth, Thin vermilion border, Omphalocele	ORPHA:1906
Timothy Syndrome	Patent ductus arteriosus, Patent foramen ovale, Bronchitis, Ventricular septal defect, Microdonti...	OMIM:601005
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Spina bifida occulta, Preaxial polydactyly	ORPHA:64754
Axial Mesodermal Dysplasia Spectrum	Short stature, Aplasia/Hypoplasia of the lungs, Micrognathia, Missing ribs, Hydrocephalus, Anal a...	ORPHA:1834
Oculoauriculovertebral Spectrum With Radial Defects	Triphalangeal thumb, Atrioventricular canal defect, Aplasia/Hypoplasia of the thumb, Preaxial han...	ORPHA:2549
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Long philtrum, Joint contracture of the hand, Spina bifida, Mitral valve prolapse, Dermatoglyphic...	OMIM:211960
3P25.3 Microdeletion Syndrome	Tapered finger, 2-3 finger syndactyly, Micrognathia, Overlapping toe, Broad hallux, Cleft palate,...	ORPHA:435638
Tetralogy Of Fallot	Tetralogy of Fallot, Clinodactyly of the 5th finger	OMIM:187500
Marshall-Smith Syndrome	Irregular dentition, Hallux valgus, Recurrent aspiration pneumonia, Microdontia, Slender finger, ...	OMIM:602535
Cornelia De Lange Syndrome 2	High palate, Limited elbow movement, Small hand, Short stature, Micrognathia, Clinodactyly, Cutis...	OMIM:300590
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd...	OMIM:618167
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Retrognathia, Mesomelic leg shortening, Micrognathia, Bowing of the legs...	OMIM:249710
Greig Cephalopolysyndactyly Syndrome	Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep...	ORPHA:380
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Thick lower lip vermilion, Micrognathia, Short philtrum, Atrial septal...	OMIM:608227
Charge Syndrome	Micrognathia, Secundum atrial septal defect, Holoprosencephaly, Abnormal rib morphology, Bilatera...	OMIM:214800
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus, Narrow mouth, Posta...	ORPHA:83473
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Truncus arteriosus, Hydranencephaly, Short distal phalanx of finger, C...	OMIM:601355
Heterotaxy, Visceral, 8, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec...	OMIM:617205
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr...	OMIM:615703
8P23.1 Duplication Syndrome	Long philtrum, Ventricular septal defect, Toe syndactyly, Tetralogy of Fallot, Pulmonic stenosis,...	ORPHA:251076
Meckel Syndrome, Type 1	Camptodactyly of finger, Abnormal cardiac septum morphology, Micrognathia, Pulmonary hypoplasia, ...	OMIM:249000
Hypercholesterolemia, Familial, 2	Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma	OMIM:144010
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Truncus arteriosus, Ventricular septal defect, Death in infancy, Interrupted aortic arc...	OMIM:617478
Waardenburg Syndrome Type 3	Camptodactyly of finger, Abnormality of the upper limb, Abnormal finger morphology, Cutaneous fin...	ORPHA:896
Mohr Syndrome	Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Median cleft lip,...	OMIM:252100
Burn-Mckeown Syndrome	2-3 toe syndactyly, Cleft upper lip, Mandibular prognathia, Ventricular septal defect, Short stat...	OMIM:608572
Trigonocephaly-Short Stature-Developmental Delay Syndrome	High palate, Ventricular septal defect, Broad secondary alveolar ridge, Short stature, Inguinal h...	ORPHA:3369
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Prune belly, Anal atresia, Cervical ribs, Omphalocele, Talipes equinov...	OMIM:601389
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short femur, Elbow...	OMIM:210710
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, High palate, Short stature, Recurrent aspiration pneumonia, Median clef...	OMIM:300484
Autosomal Recessive Amelia	Non-midline cleft lip, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs, Micro...	ORPHA:1027
Meckel Syndrome 14	Retrognathia, Cyanosis, Pneumothorax, Micrognathia, Pulmonary hypoplasia, Microretrognathia, Post...	OMIM:619879
Opitz Gbbb Syndrome	Ectopic anus, Recurrent aspiration pneumonia, Micrognathia, Cleft palate, Aortic root aneurysm, P...	ORPHA:2745
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Double outlet right ventricle, High palate, Ventricular septal defect, Long...	OMIM:616652
Bardet-Biedl Syndrome 19	Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart...	OMIM:615996
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Wide mouth, Short stat...	OMIM:618454
Roifman Syndrome	Short toe, Hip contracture, Ventricular septal defect, Short metacarpal, Long philtrum, Short sta...	OMIM:616651
Tarp Syndrome	Short sternum, Postaxial polydactyly, High palate, Glossoptosis, Tongue nodules, Hypoplasia of th...	OMIM:311900
Char Syndrome	Patent ductus arteriosus, Mesoaxial foot polydactyly, Ventricular septal defect, Short middle pha...	ORPHA:46627
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Short stature, Hydrocephalus, Anal atresi...	OMIM:309801
Trigonocephaly With Short Stature And Developmental Delay	High palate, Ventricular septal defect, Short stature, Broad alveolar ridges, Clinodactyly of the...	OMIM:314320
Pagod Syndrome	Meningocele, Abnormal aortic morphology, Encephalocele, Short stature, Death in infancy, Spina bi...	ORPHA:991
Jawad Syndrome	Absent fourth finger distal interphalangeal crease, Retrognathia, Hallux valgus, Short middle pha...	OMIM:251255
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Short toe, Short 5th metacarpal, High palate, Pierre-Robin sequence, Perimembra...	OMIM:617877
Robin Sequence-Oligodactyly Syndrome	Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ...	ORPHA:3104
Aase-Smith Syndrome I	Flexion contracture, Ventricular septal defect, Death in infancy, Hydrocephalus, Slender finger, ...	OMIM:147800
Ritscher-Schinzel Syndrome 2	Patent ductus arteriosus, Ventricular septal defect, Clinodactyly, Camptodactyly, Short philtrum,...	OMIM:300963
Desbuquois Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Coxa valga, Ventri...	ORPHA:1425
Asbestos Intoxication	Cyanosis, Abnormal pulmonary interstitial morphology, Subpleural honeycombing, Hypoxemia, Clubbin...	ORPHA:2302
Brachydactyly, Type B1	Hypoplastic sacrum, Ventricular septal defect, Joint contracture of the hand, Short long bone, Cu...	OMIM:113000
8p23.1 deletion syndrome	Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial...	DECIPHER:39
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Retrognathia, Abnormal metacarpal morphology, Abnormal lung lobation, Pu...	ORPHA:2631
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Polydactyly, Clinodactyly, Narrow mouth, Malar flattening, Postaxial polydactyly	OMIM:615984
Endocrine-Cerebroosteodysplasia	Thick upper lip vermilion, Micrognathia, Median cleft lip, Holoprosencephaly, Fibular bowing, Tal...	OMIM:612651
Short Rib-Polydactyly Syndrome	Short tibia, Polydactyly, Horizontal ribs, Abnormal pelvis bone ossification, Limb undergrowth, C...	ORPHA:1505
Complete Atrioventricular Septal Defect	Cyanosis, Recurrent pneumonia, Displacement of the papillary muscles, Complete atrioventricular c...	ORPHA:1329
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Atrioventricular canal defect, Tapered finger, High palate, Long philtrum, Short st...	OMIM:613792
Aminopterin Syndrome Sine Aminopterin	High palate, Joint contracture of the hand, Short stature, Micrognathia, Oligodontia, Clinodactyl...	OMIM:600325
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abdominal situs ambiguus, Right ...	OMIM:270100
Hydrolethalus Syndrome 2	Preaxial foot polydactyly, Micrognathia, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, ...	OMIM:614120
Donnai-Barrow Syndrome	Short sternum, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia...	OMIM:222448
Fetal Trimethadione Syndrome	High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Bilateral single tran...	ORPHA:1913
Frank-Ter Haar Syndrome	Short phalanx of finger, Micrognathia, Secundum atrial septal defect, Camptodactyly, Metatarsus a...	OMIM:249420
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Chromosome 15Q26-Qter Deletion Syndrome	Abnormal cardiac septum morphology, Short stature, Micrognathia, Brachydactyly, Short middle phal...	OMIM:612626
Chromosome 15Q14 Deletion Syndrome	Ventricular septal defect, Recurrent viral upper respiratory tract infections, Short philtrum, At...	OMIM:616898
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Toe syndactyly, Postaxial hand polydactyly, Abnormal rib morphology, Cle...	ORPHA:373
Dislocation Of The Hip-Dysmorphism Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Prominence of the premaxilla, Conge...	ORPHA:2412
Esophageal Atresia	Cyanosis, Bronchitis, Ventricular septal defect, Recurrent respiratory infections, Pyloric stenos...	ORPHA:1199
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Preaxial hand polydactyly, Large hands, Orofacial cleft	ORPHA:85287
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus, Camptodactyly of finger, Abnormality of the philtrum, High palate, Shor...	ORPHA:2863
Vater/Vacterl Association	Patent ductus arteriosus, Triphalangeal thumb, Ventricular septal defect, Esophageal atresia, Hyp...	OMIM:192350
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis, Double outlet right ventricle, Midgut malrotation, Short stature, Short lingual frenulu...	ORPHA:2326
Microphthalmia, Syndromic 12	Retrognathia, Ventricular septal defect, Hypoplastic left atrium, Micrognathia, Pulmonary hypopla...	OMIM:615524
Trisomy 4P	Camptodactyly of finger, Preaxial hand polydactyly, Radial club hand, Short stature, Abnormal pal...	ORPHA:1738
Acrocardiofacial Syndrome	Camptodactyly of finger, Cleft upper lip, Truncus arteriosus, Ventricular septal defect, Hallux v...	ORPHA:2008
Cooper-Jabs Syndrome	Camptodactyly of finger, Ventricular septal defect, Short stature, Missing ribs, Congenital diaph...	ORPHA:1488
Lowry-Maclean Syndrome	Cleft palate, Intrauterine growth retardation, Abnormal heart morphology, Delayed eruption of teeth	OMIM:600252
1Q21.1 Microduplication Syndrome	Hip dysplasia, Hydrocephalus, Hip dislocation, Tetralogy of Fallot, Arthrogryposis multiplex cong...	ORPHA:250994
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis,...	OMIM:614262
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Non-midline cleft lip, Short stature, Aplasia/Hypoplasia of the lungs, Radioulnar synostosis, Cli...	ORPHA:2725
Carpenter Syndrome	Patent ductus arteriosus, Polydactyly, Genu valgum, Umbilical hernia, Finger syndactyly, Toe synd...	ORPHA:65759
Specc1L-Related Hypertelorism Syndrome	Patent ductus arteriosus, Short toe, Ventricular septal defect, Finger syndactyly, Long philtrum,...	ORPHA:1519
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Cleft palate, Clinodactyly of the 5th finger, Abnormal heart morphology, Intrauterine growth reta...	ORPHA:231147
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect, Wide mouth, Clinodactyly of the 5th finger, Delayed eruption of perman...	OMIM:618506
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Co...	OMIM:263000
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Patent ductus arteriosus, Cyanosis, Anomalous origin of left pulmonary artery from ascending aort...	ORPHA:99050
Brachydactyly-Preaxial Hallux Varus Syndrome	Radial club hand, Preaxial hand polydactyly, Short metacarpal, Micrognathia, Abnormal palate morp...	ORPHA:1278
Orofaciodigital Syndrome Type 2	Short tibia, Atrioventricular canal defect, Broad first metatarsal, Bifid tongue, Micrognathia, T...	ORPHA:2751
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Death in ...	OMIM:613759
Insulin-Like Growth Factor I, Resistance To	Micrognathia, Reduced subcutaneous adipose tissue, Radial deviation of finger, Smooth philtrum, P...	OMIM:270450
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flexion contracture, Fractured radius, Ventricular septal defect, Short ribs, Micrognathia, Multi...	OMIM:616897
Carpenter Syndrome 2	Camptodactyly, Talipes equinovarus, Narrow palate, Atrial septal defect, Dextrocardia, Carious te...	OMIM:614976
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Clinodactyly, Coarctatio...	OMIM:618164
Rare Circulatory System Disease	Cyanosis, Abnormal hand morphology, Abnormality of the elbow, Abnormal finger morphology, Arteria...	ORPHA:98028
Orofaciodigital Syndrome Xiv	Patent ductus arteriosus, Lobulated tongue, Bifid tongue, Ventricular septal defect, Natal tooth,...	OMIM:615948
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Advanced ossification of carpal bones, Coxa valga, Micrognathia, Flattened epiphysis, Tooth agene...	OMIM:618363
Pallister-Hall-Like Syndrome	Short stature, Short ribs, Toe syndactyly, Micrognathia, Death in infancy, Hydrocephalus, Hip dis...	OMIM:241800
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus, Short stature, Thin upper lip vermilion, Smooth philtrum, Malar flattening, I...	OMIM:611867
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Oculofaciocardiodental Syndrome	2-3 toe syndactyly, Abnormal cardiac septum morphology, Delayed eruption of teeth, Peripheral pul...	ORPHA:2712
Bartsocas-Papas Syndrome 1	Short phalanx of finger, Absent thumb, Flexion contracture, Micrognathia, Limb undergrowth, Cleft...	OMIM:263650
Alg9-Cdg	Pericardial effusion, Micrognathia, Abnormal left ventricular outflow tract morphology, Bifid uvu...	ORPHA:79328
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ...	OMIM:611134
Congenital Heart Defects And Skeletal Malformations Syndrome	Camptodactyly, Smooth philtrum, Aortic root aneurysm, Narrow maxilla, Ventricular septal defect, ...	OMIM:617602
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Micrognathia, Clinodactyly of the 5th f...	OMIM:619123
Hereditary Bullous Dystrophy, Macular Type	Tapered finger, Short stature, Short finger, Acrocyanosis, Abnormal heart morphology, Growth dela...	ORPHA:1867
Periventricular Nodular Heterotopia 7	Knee flexion contracture, 1-4 toe syndactyly, 2-3 toe syndactyly, Pierre-Robin sequence, Ventricu...	OMIM:617201
Acrofacial Dysostosis 1, Nager Type	Absent thumb, Hallux valgus, Toe syndactyly, Micrognathia, Hip dislocation, Overlapping toe, Broa...	OMIM:154400
Ciliary Dyskinesia, Primary, 40	Patent ductus arteriosus, Atrioventricular canal defect, Congenitally corrected transposition of ...	OMIM:618300
Meckel Syndrome, Type 8	Polydactyly, Cleft upper lip, Encephalocele, Pericardial effusion, Cleft palate, Occipital enceph...	OMIM:613885
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Coxa valga, Finger syndactyly, Abnormal cardiac septum morphology, Tibial torsion, Mi...	ORPHA:3320
Braddock-Carey Syndrome 1	Enamel hypoplasia, Pierre-Robin sequence, Small hand, Ventricular septal defect, Aortic valve pro...	OMIM:619980
Orofaciodigital Syndrome Iv	Short tibia, Lobulated tongue, High palate, Short stature, Tongue nodules, Toe syndactyly, Foot p...	OMIM:258860
Iniencephaly	Mandibular aplasia, Spinal dysraphism, Rhizomelia, Encephalocele, Myelomeningocele, Spina bifida,...	ORPHA:63259
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Micrognathia, Elbow dislocat...	ORPHA:1507
Holoprosencephaly	Spinal dysraphism, Median cleft lip, Holoprosencephaly, Tooth agenesis, Intestinal atresia, Ventr...	ORPHA:2162
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Syndactyly, Short palm	ORPHA:79094
Coffin-Siris Syndrome 3	Central diaphragmatic hernia, High palate, Long philtrum, Wide mouth, Short stature, Short distal...	OMIM:614608
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Hypertrophic cardiomyopathy	ORPHA:91130
Warsaw Breakage Syndrome	2-3 toe syndactyly, High palate, Ventricular septal defect, Wide mouth, Clinodactyly of the 5th f...	OMIM:613398
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short lingual frenulum, Microdontia, Pulmonary hypoplasia, Cleft palate, Short ribs,...	OMIM:614091
Orofaciodigital Syndrome V	Lobulated tongue, Bifid tongue, Ventricular septal defect, High palate, Recurrent respiratory inf...	OMIM:174300
Noonan Syndrome 12	11 pairs of ribs, Ventricular septal defect, Anteriorly placed anus, Proximal placement of thumb,...	OMIM:618624
Fanconi Anemia, Complementation Group O	Absent thumb, Rectal atresia, Short stature, Death in infancy, Hypoplasia of the radius, Anal atr...	OMIM:613390
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Duplication of phalan...	OMIM:263630
10Q22.3Q23.3 Microduplication Syndrome	Abnormality of the philtrum, Microretrognathia, Abnormal rib morphology, Tetralogy of Fallot, Abn...	ORPHA:276422
Rhizomelic Syndrome	Bifid distal phalanx of the thumb, Complete duplication of thumb phalanx, Rhizomelia, Short statu...	OMIM:268250
Hadziselimovic Syndrome	Ventricular hypertrophy, High palate, Ventricular septal defect, Short stature, Pulmonary artery ...	OMIM:612946
Orofaciodigital Syndrome Type 5	Enamel hypoplasia, Non-midline cleft lip, Abnormality of the philtrum, Bifid tongue, Cleft soft p...	ORPHA:2919
Hypothyroidism, Congenital, Nongoitrous, 4	Severe postnatal growth retardation, Omphalocele, Macroglossia, Umbilical hernia	OMIM:275100
Trisomy 13	Patent ductus arteriosus, Hernia, Ventricular septal defect, Long philtrum, Abnormal lung lobatio...	ORPHA:3378
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Genu valgum, Mandibular prognathia, Tapered finger, Long philtrum, Short stature, Bicuspid aortic...	OMIM:619721
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Lowry-Maclean Syndrome	Retrognathia, Atrioventricular canal defect, Talon cusp, Midgut malrotation, Delayed eruption of ...	ORPHA:2409
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Diastasis recti, High palate, Short stature, Clinodactyly of the 5th finger, Upper l...	ORPHA:231140
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin...	ORPHA:71212
Cerebrocostomandibular Syndrome	Meningocele, Myelomeningocele, Ventricular septal defect, Short stature, Death in infancy, Spina ...	ORPHA:1393
Jackson-Weiss Syndrome	2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Mandibular prognathia, Toe...	ORPHA:1540
Galloway-Mowat Syndrome 7	High palate, Hallux valgus, Ventricular septal defect, Short stature, Micrognathia, Clinodactyly,...	OMIM:618348
Omphalocele	Omphalocele	ORPHA:660
Li-Campeau Syndrome	Patent ductus arteriosus, Patent foramen ovale, Patellar hypoplasia, Ventricular septal defect, L...	OMIM:619189
Williams Syndrome	Peptic ulcer, Aortic arch aneurysm, Colonic diverticula, Hallux valgus, Abnormal cardiac septum m...	ORPHA:904
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Short stature, Flex...	OMIM:610758
Diabetic Embryopathy	Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphism, Abnormal aortic morpholo...	ORPHA:1926
Isolated Right Ventricular Hypoplasia	Cyanosis, Patent foramen ovale, Hypoxemia, Atrial septal defect, Clubbing, Muscular ventricular s...	ORPHA:439
Coffin-Siris Syndrome 2	High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Thick lower lip vermilion, Sho...	OMIM:614607
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split foot, Split hand, Malar flattening, Cleft palate	OMIM:183700
Ellis Van Creveld Syndrome	Atrioventricular canal defect, Delayed eruption of teeth, Microdontia, Abnormal oral frenulum mor...	ORPHA:289
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Long philtrum, Short stature, Atrial septal defect, Sandal gap, Tetralog...	OMIM:300887
Nephrotic Syndrome, Type 11	High palate, Ventricular septal defect, Micrognathia, Clinodactyly, Dilated cardiomyopathy, Parti...	OMIM:616730
Heterotaxy, Visceral, 2, Autosomal	Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su...	OMIM:605376
Analbuminemia	Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen...	OMIM:616000
Restrictive Dermopathy 2	Cyanosis, Hypoplastic facial bones, Microretrognathia, Overtubulated long bones, Rectal prolapse,...	OMIM:619793
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Ventricular septal defect, Short stature, Short long bone, Short ribs, Hydrocephalus...	OMIM:615630
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, High palate, Abnormality of the calcaneus, Mic...	ORPHA:40366
Tetrasomy 5P	Cyanosis, Aplasia/Hypoplasia of the abdominal wall musculature, High palate, Long philtrum, Recur...	ORPHA:3309
Abruzzo-Erickson Syndrome	Short toe, Short stature, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Atria...	ORPHA:921
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	2-3 toe syndactyly, Ventricular septal defect, Long philtrum, Deep philtrum, Micrognathia, Bifid ...	ORPHA:404440
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect, Micrognathia, Narrow mouth, Pericallosal lipoma, Cleft ...	ORPHA:398156
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Microdontia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of fin...	ORPHA:363417
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga...	OMIM:619868
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Abnormal rib morphology, Cle...	ORPHA:2345
Dyssegmental Dysplasia, Silverman-Handmaker Type	Flexion contracture, Micrognathia, Clubbing of fingers, Pulmonary hypoplasia, Limb undergrowth, C...	ORPHA:1865
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Micr...	OMIM:609945
Distal Monosomy 3P	Atrioventricular canal defect, High palate, Long philtrum, Short stature, Micrognathia, Clinodact...	ORPHA:1620
Acromelic Frontonasal Dysostosis	Short tibia, Polydactyly, Tubulonodular pericallosal lipoma, Cleft upper lip, Patellar hypoplasia...	OMIM:603671
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Congenital diaphragmatic hernia, ...	ORPHA:63260
Xk Aprosencephaly Syndrome	Ventricular septal defect, Abnormal morphology of the radius, Anal atresia, Atrial septal defect,...	ORPHA:3469
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Flexion contracture, Vertebral hypoplasia, Abnormal cardiac septum morphology, Micrognathia, Epip...	OMIM:308050
Microphthalmia, Syndromic 2	2-3 toe syndactyly, Flexion contracture, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-...	OMIM:300166
Holt-Oram Syndrome	Absent thumb, Abnormal carpal morphology, Secundum atrial septal defect, Phocomelia, Limited elbo...	OMIM:142900
Loeys-Dietz Syndrome 2	Ascending tubular aorta aneurysm, Aortic arch aneurysm, Micrognathia, Bifid uvula, Camptodactyly,...	OMIM:610168
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Metaphyseal irregularity, Genu valgum, Hypoplastic pubic bone, Coxa vara, Anterior rib cupping, H...	OMIM:184250
Velocardiofacial Syndrome	Retrognathia, Pierre-Robin sequence, Ventricular septal defect, Short stature, Interrupted aortic...	OMIM:192430
Congenital Heart Defects And Ectodermal Dysplasia	Atrioventricular canal defect, Widely spaced teeth, Microdontia, Premature loss of primary teeth,...	OMIM:617364
Emanuel Syndrome	Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Broad jaw, Ventricular septa...	OMIM:609029
German Syndrome	Camptodactyly of finger, High palate, Abnormal cardiac septum morphology, Short stature, Microgna...	ORPHA:2077
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid...	ORPHA:1461
Mandibulofacial Dysostosis-Microcephaly Syndrome	Preaxial hand polydactyly, Short stature, Micrognathia, Atrial septal defect, Hypoplasia of the m...	ORPHA:79113
Thrombocytopenia-Absent Radius Syndrome	Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Micrognathia, H...	OMIM:274000
Holoprosencephaly 13, X-Linked	Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal...	OMIM:301043
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Short stature, Bil...	ORPHA:1770
Bardet-Biedl Syndrome 16	Polydactyly, Bronchiolitis, Recurrent respiratory infections, Short stature	OMIM:615993
Distal 22Q11.2 Microdeletion Syndrome	Camptodactyly of finger, Coxa valga, Truncus arteriosus, Toe syndactyly, Smooth philtrum, Cleft p...	ORPHA:261330
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Autosomal Recessive Spondylocostal Dysostosis	Camptodactyly of finger, Meningocele, Finger syndactyly, Long philtrum, Short stature, Rib segmen...	ORPHA:2311
Frank-Ter Haar Syndrome	Camptodactyly of finger, Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Mitral val...	ORPHA:137834
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent ductus arteriosus, Patent foramen ovale, Short sternum, Retrognathia, High palate, Ventric...	OMIM:620113
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Short stature, Hydrocephalus, Prominence...	OMIM:614886
Multiple Pterygium Syndrome, X-Linked	Cleft upper lip, Flexion contracture, Micrognathia, Short finger, Pulmonary hypoplasia, Intrauter...	OMIM:312150
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septa...	OMIM:618974
Femoral-Facial Syndrome	Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo...	OMIM:134780
Orofaciodigital Syndrome Xi	Cleft palate, Hypoplasia of the odontoid process, Postaxial polydactyly	OMIM:612913
Testicular Anomalies With Or Without Congenital Heart Disease	Inguinal hernia, Tetralogy of Fallot	OMIM:615542
Emanuel Syndrome	Truncus arteriosus, Multiple joint contractures, Delayed eruption of teeth, Ectopic anus, Microgn...	ORPHA:96170
Focal Dermal Hypoplasia	Short phalanx of finger, Short 4th metacarpal, Delayed eruption of teeth, Toe syndactyly, Spina b...	OMIM:305600
Czeizel-Losonci Syndrome	Myelomeningocele, High palate, 2-3 finger syndactyly, Micrognathia, Spina bifida, Hydrocephalus, ...	ORPHA:2437
Weill-Marchesani Syndrome	Ventricular septal defect, Short stature, Brachydactyly, Aortic valve stenosis, Short thumb, Pulm...	ORPHA:3449
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart, Disproportionate short-limb short stature, Mic...	ORPHA:2772
Absence Of The Pulmonary Artery	Patent ductus arteriosus, Patent foramen ovale, Cyanosis, Hypocapnia, Truncus arteriosus, Abnorma...	ORPHA:980
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Adams-Oliver Syndrome 6	Foot oligodactyly, Ventricular septal defect, Truncus arteriosus, Cutis marmorata, Syndactyly, Br...	OMIM:616589
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Short first metatarsal, Short 1st metacarpal, Death in infancy, Sh...	OMIM:619135
Kabuki Syndrome 2	Atrioventricular canal defect, Dental malocclusion, Short 5th finger, Lower lip pit, Natal tooth,...	OMIM:300867
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Ventricular septal defect, Short stature, Clinodactyly, Atrial septal defec...	OMIM:614261
Congenital Tricuspid Valve Dysplasia	Cyanosis, Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaf...	ORPHA:555874
Trigonocephaly 1	Omphalocele, High, narrow palate, Long philtrum, Meckel diverticulum	OMIM:190440
Mandibulofacial Dysostosis, Guion-Almeida Type	Preaxial hand polydactyly, Ventricular septal defect, Deep philtrum, Esophageal atresia, Short st...	OMIM:610536
Atrial Septal Defect 2	Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal...	OMIM:607941
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Short 5th finger, Micrognathia, Clinodactyly of the 5th finger, Small placenta, Synd...	ORPHA:397590
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Polydactyly, Postaxial, Type A8	Genu valgum, Short stature, Postaxial polydactyly	OMIM:618123
Short Stature-Micrognathia Syndrome	Retrognathia, 2-3 toe syndactyly, Broad femoral neck, Coxa valga, Ventricular septal defect, Rhiz...	OMIM:617164
Isolated Dandy-Walker Malformation	Cleft palate, Tetralogy of Fallot, Encephalocele	ORPHA:217
8Q12 Microduplication Syndrome	Long philtrum, Ventricular septal defect, Atrial septal defect, Everted lower lip vermilion, Narr...	ORPHA:228399
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Pulmonary sequestration, Ventricular septal defect, Short stature, Olig...	OMIM:618330
Aortic Valve Disease 1	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp...	OMIM:109730
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Patent foramen ovale, High palate, Long philtrum, Mitral valve prolapse, Atrophic scars, Camptoda...	OMIM:615539
Congenital Fibrinogen Deficiency	Cyanosis, Subcutaneous hemorrhage, Volvulus, Left ventricular hypertrophy, Clubbing of fingers, B...	ORPHA:335
Genitopalatocardiac Syndrome	Non-midline cleft lip, Abnormal cardiac septum morphology, Micrognathia, Hydrocephalus, Congenita...	ORPHA:2075
Zechi-Ceide Syndrome	Mandibular prognathia, Oligodontia, Short philtrum, Atrial septal defect, Downturned corners of m...	ORPHA:217017
Intellectual Developmental Disorder, Autosomal Dominant 21	Patent ductus arteriosus, Incisor macrodontia, Long philtrum, Short stature, Atrial septal defect...	OMIM:615502
Inverted Duplicated Chromosome 15 Syndrome	2-3 toe syndactyly, Hernia, Ventricular septal defect, High palate, Clinodactyly of the 5th finge...	ORPHA:3306
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent ductus arteriosus, Patent foramen ovale, 2-3 toe syndactyly, Genu valgum, Clinodactyly of ...	OMIM:618870
Viss Syndrome	Aortic tortuosity, Ascending tubular aorta aneurysm, Bifid tongue, Cleft soft palate, Pneumothora...	OMIM:619472
Skraban-Deardorff Syndrome	Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla...	OMIM:617616
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pneumothorax, Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissect...	ORPHA:91387
Atelosteogenesis, Type Ii	Death in infancy, Bifid humerus, Micrognathia, Talipes equinovarus, Flat acetabular roof, Hitchhi...	OMIM:256050
Congenital Disorder Of Glycosylation, Type Iil	Patent ductus arteriosus, Enamel hypoplasia, Retrognathia, Ventricular septal defect, Death in in...	OMIM:614576
Contractural Arachnodactyly, Congenital	Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Camptodactyly, Metatarsus add...	OMIM:121050
Developmental And Epileptic Encephalopathy 89	Flexion contracture, Long philtrum, Microretrognathia, Thin upper lip vermilion, Limb undergrowth...	OMIM:619124
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, High palate, Ventricular septal defect, Cervical ribs, Cleft palate, Proportiona...	OMIM:609654
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus, Short stature	OMIM:210350
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Micrognathia, Clinodactyly of...	ORPHA:2001
Bardet-Biedl Syndrome 17	Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Situs inversus totalis, Dextrocar...	OMIM:615994
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom...	OMIM:616276
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Patent foramen ovale, Mandibular prognathia, High palate, Ventricular septal defect, Wide mouth, ...	ORPHA:369891
Congenital Sialidosis Type 2	Polydactyly, Respiratory tract infection, Telangiectasia, Cherry red spot of the macula, Petechia...	ORPHA:93400
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Tapered finger, Ventricular septal defect, Hyperextensibility of the finger joints,...	ORPHA:505237
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Aplasia/Hypoplasia of the lungs, Micrognathia, Brachydactyly, S...	ORPHA:2145
Contractures-Developmental Delay-Pierre Robin Syndrome	Wrist flexion contracture, Abnormal finger morphology, Hip dysplasia, Micrognathia, Radioulnar sy...	ORPHA:436003
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Micrognathia, Hydrocephalus,...	ORPHA:2306
Prune Belly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Recurrent respiratory infections, Volvulus, ...	ORPHA:2970
Mesomelia-Synostoses Syndrome	Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormal oral frenulum morphology,...	ORPHA:2496
Diamond-Blackfan Anemia 21	Short toe, Genu valgum, Preaxial hand polydactyly, Tapered finger, Hallux valgus, Short stature, ...	OMIM:620072
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, Flexion contracture, Tapered finger, Ventricular septal defect, High palate, Long p...	OMIM:617452
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Patent foramen ovale, Ventricular septal defect, Hip dysplasia, Abnormality o...	OMIM:612582
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Chromosome 18Q Deletion Syndrome	Ascending tubular aorta aneurysm, Toe syndactyly, Bifid uvula, Overlapping toe, Cleft palate, Roc...	OMIM:601808
Cardiac Valvular Dysplasia 1	Cyanosis, Patent foramen ovale, Left aortic arch with cervical origin of the right subclavian art...	OMIM:212093
Johnson Neuroectodermal Syndrome	Preaxial hand polydactyly, Hand polydactyly, Everted lower lip vermilion, Severe short stature, C...	ORPHA:2316
Mucopolysaccharidosis, Type Iva	Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ...	OMIM:253000
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr...	OMIM:207750
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Ventricular hypertrophy, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Pat...	OMIM:602613
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Aplasia/Hypoplasia of the fibula, Finger syndactyly, Ventricular septal defect, Short long bone, ...	ORPHA:2256
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly...	OMIM:183600
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Bilateral lung agenesis, Abnormal cardiac septum morphology, Coarctatio...	OMIM:601612
Microphthalmia With Limb Anomalies	Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h...	OMIM:206920
Jansen-De Vries Syndrome	Central diaphragmatic hernia, Ventricular septal defect, Small hand, Wide mouth, Short stature, B...	OMIM:617450
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Metatropic Dysplasia	Camptodactyly of finger, Aplasia/Hypoplasia of the lungs, Halberd-shaped pelvis, Clinodactyly of ...	ORPHA:2635
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ...	ORPHA:26793
Ehlers-Danlos Syndrome, Classic-Like, 2	Aortic root aneurysm, Shoulder dislocation, Carotid artery stenosis, Ventral hernia, High palate,...	OMIM:618000
Bardet-Biedl Syndrome 8	Situs inversus totalis, Postaxial polydactyly	OMIM:615985
Congenital Pulmonary Lymphangiectasia	Cyanosis, Chylopericardium, Pleural effusion, Growth delay, Pulmonic stenosis	ORPHA:2414
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Rhizomelia, Wide mouth, Microgn...	ORPHA:163966
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Epiphyseal dysplasia, Inguinal hernia, Fl...	OMIM:607131
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Clubbing, Absent pulmonary ...	OMIM:600460
Lujan-Fryns Syndrome	Camptodactyly of finger, Arachnodactyly, High palate, Micrognathia, Short philtrum, Atrial septal...	ORPHA:776
Joubert Syndrome 14	Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Short philtrum, Intracrania...	OMIM:614424
Congenital Rubella Syndrome	Patent ductus arteriosus, Ventricular septal defect, Short stature, Jaundice, Abnormality of the ...	ORPHA:290
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Short statu...	OMIM:617102
Pallister-Hall Syndrome	Short 4th metacarpal, Toe syndactyly, Hip dislocation, Distal shortening of limbs, Holoprosenceph...	OMIM:146510
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication	OMIM:188740
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	2-3 toe syndactyly, Lobar holoprosencephaly, Smooth philtrum, Cleft palate, Short femoral neck, C...	OMIM:614701
Loeys-Dietz Syndrome 5	Cleft soft palate, Reduced subcutaneous adipose tissue, Bifid uvula, Ascending aortic dissection,...	OMIM:615582
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Patent ductus arteriosus, Triphalangeal thumb, Short 5th finger, Ventricular septal defect, High ...	OMIM:220500
Myhre Syndrome	Abnormal cardiac septum morphology, Large iliac wing, Abnormal lip morphology, Bifid uvula, Abnor...	ORPHA:2588
Orofaciodigital Syndrome I	Polydactyly, Bifid tongue, Median cleft lip, Radial deviation of finger, Alveolar ridge overgrowt...	OMIM:311200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pericardial effusion, Thyroid lymphangiectasia, Mild postnatal growth ...	OMIM:235510
Mosaic Trisomy 16	Patent ductus arteriosus, Ventricular septal defect, Short femoral neck, Short forearm, Craniofac...	ORPHA:1708
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Wide mouth, Bicuspid a...	ORPHA:329224
X-Linked Intellectual Disability, Nascimento Type	Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal...	ORPHA:163956
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Ventricular septal defect, Bilateral lung agenesis, Bilateral cleft ...	OMIM:618021
Mucopolysaccharidosis, Type Ivb	Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ...	OMIM:253010
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Patent foramen ovale, Ventricular septal defect, Long philtrum, High, narrow palate, Hip dysplasi...	OMIM:618494
3Mc Syndrome 3	Cleft upper lip, Diastasis recti, Short stature, Clinodactyly, Radioulnar synostosis, Preaxial po...	OMIM:248340
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Abnormality of the dentition, Brachydactyly	OMIM:615982
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Tapered finger, 2-3 toe cutaneous syndactyly, Contracture of the proximal interphalangeal joint o...	OMIM:300998
Cerebrocostomandibular Syndrome	Cleft soft palate, Micrognathia, Elbow flexion contracture, Posterior rib gap, Cleft palate, Glos...	OMIM:117650
Stromme Syndrome	Jejunal atresia, Wide mouth, Micrognathia, Hydrocephalus, Intestinal malrotation, Preaxial polyda...	OMIM:243605
Loeys-Dietz Syndrome 4	Retrognathia, Protrusio acetabuli, Aortic tortuosity, Ascending tubular aorta aneurysm, High pala...	OMIM:614816
Ehlers-Danlos Syndrome, Classic Type, 1	Aortic root aneurysm, Narrow maxilla, Hyperextensibility of the finger joints, Short stature, Rec...	OMIM:130000
Cohen Syndrome	Tapered finger, Micrognathia, Tooth agenesis, Gingival overgrowth, Genu valgum, Ventricular septa...	ORPHA:193
Kagami-Ogata Syndrome	Coat hanger sign of ribs, Diastasis recti, Coxa valga, Micrognathia, Inguinal hernia, Pursed lips...	ORPHA:254519
Cleidocranial Dysplasia	Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Spina bifida ...	ORPHA:1452
Chromosome 1Q41-Q42 Deletion Syndrome	Cleft upper lip, High palate, Ventricular septal defect, Deep philtrum, Widely spaced teeth, Shor...	OMIM:612530
Diprosopus	Non-midline cleft lip, Anencephaly, Abnormal cardiac septum morphology, Cleft palate	ORPHA:1681
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Metatarsus valgus, Mandibular prognathia, Short stature, Toe syndactyly, Aplasia/Hypoplasia of fi...	ORPHA:3082
Chondrodysplasia, Blomstrand Type	Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Stillbirth, M...	OMIM:215045
Isolated Anencephaly	Congenital diaphragmatic hernia, Omphalocele, Intrauterine growth retardation, Cleft lip	ORPHA:563609
Mckusick-Kaufman Syndrome	Patent ductus arteriosus, High palate, Ventricular septal defect, Finger syndactyly, Ectopic anus...	ORPHA:2473
Woods Syndrome	Ventricular septal defect, 3-4 finger cutaneous syndactyly, Single transverse palmar crease, Limi...	OMIM:615236
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Long philtrum, Ventricular septal defect, Short stature, Atrial septal defect, Everted lower lip ...	ORPHA:75389
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip subluxation, Flexion contracture, Coxa valga, Hallux valgus, Advanced ossification of carpal ...	OMIM:271640
Recombinant 8 Syndrome	Patent ductus arteriosus, Camptodactyly of finger, Cleft upper lip, Ventricular septal defect, Pa...	ORPHA:96167
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect	OMIM:601322
19P13.3 Microduplication Syndrome	Hip subluxation, Ventricular septal defect, Hip dysplasia, Micrognathia, Clinodactyly, Hip disloc...	ORPHA:447980
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level	OMIM:610768
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Patent ductus arteriosus, 2-3 toe syndactyly, Retrognathia, Tapered finger, Ventricular septal de...	OMIM:617061
Oculodentodigital Dysplasia	Camptodactyly of finger, Non-midline cleft lip, Toe syndactyly, Micrognathia, Taurodontia, Median...	ORPHA:2710
Meacham Syndrome	Pulmonary hypoplasia, Aplasia of the left hemidiaphragm, Ventricular septal defect, Congenital al...	OMIM:608978
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Horizontal ribs, Disproportionate shortening of the tibia, Preaxial hand polydactyly, Ventricular...	OMIM:263520
Craniofaciofrontodigital Syndrome	Palmoplantar cutis laxa, Finger joint hypermobility, Abnormal cerebral vascular morphology, Peric...	ORPHA:363705
Multiple Pterygium Syndrome, Lethal Type	Flexion contracture, Micrognathia, Short finger, Pulmonary hypoplasia, Intrauterine growth retard...	OMIM:253290
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Clinodactyly of the 2nd finger, Coxa valga, Ventricular septal defect, Short fo...	OMIM:620073
Kury-Isidor Syndrome	High palate, Ventricular septal defect, Finger syndactyly, Widely spaced teeth, Long philtrum, Hi...	OMIM:619762
Filippi Syndrome	Finger syndactyly, Ventricular septal defect, Enlarged epiphyses, Short stature, Clinodactyly of ...	ORPHA:3255
Congenital Tracheomalacia	Patent ductus arteriosus, Cyanosis, Pneumothorax, Ventricular septal defect, Bronchiectasis, Esop...	ORPHA:95430
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Hydrocephalus, Bifid uvula, Cleft palate, Omphalocele, Unilatera...	ORPHA:2736
Cat Eye Syndrome	Patent ductus arteriosus, Rectal fistula, Ventricular septal defect, Rectal atresia, Short statur...	OMIM:115470
9Q21.13 Microdeletion Syndrome	Polydactyly, Hip dysplasia, Downturned corners of mouth, Abnormal tongue morphology, Abnormal hea...	ORPHA:531151
Surfactant Metabolism Dysfunction, Pulmonary, 1	Cyanosis, Intraalveolar phospholipid accumulation, Desquamative interstitial pneumonitis, Death i...	OMIM:265120
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Multiple Epiphyseal Dysplasia, Lowry Type	Knee flexion contracture, Genu valgum, Rhizomelia, Short stature, Fixed elbow flexion, Micrognath...	ORPHA:166016
Megabladder, Congenital	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,...	OMIM:618719
Kapur-Toriello Syndrome	Patent ductus arteriosus, Camptodactyly of finger, Cleft upper lip, Ventricular septal defect, Jo...	OMIM:244300
Multiple Epiphyseal Dysplasia Type 4	Flexion contracture, Micrognathia, Elbow flexion contracture, Metatarsal synostosis, Abnormal for...	ORPHA:93307
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Tapered finger, Toe syndactyly, Micrognathia, Everted lower lip vermilio...	ORPHA:251014
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Intellectual Developmental Disorder, Autosomal Dominant 23	Long philtrum, Micrognathia, Thin upper lip vermilion, Downturned corners of mouth, Sandal gap, S...	OMIM:615761
Okamoto Syndrome	Anal stenosis, Polydactyly, Ventricular septal defect, Abnormal mitral valve morphology, Exaggera...	ORPHA:2729
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Atrioventricular canal defect, 2-3 toe syndactyly, Short 5th finger, Truncus arteriosus, Microgna...	ORPHA:508498
Mosaic Trisomy 9	Camptodactyly of finger, Micrognathia, Hip dislocation, Elbow dislocation, Cleft palate, Deep pal...	ORPHA:99776
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Short stature, Adducted thumb, Muscular ventricular septal defect, Single transverse palmar creas...	OMIM:620062
Arthrogryposis, Distal, Type 2B1	Camptodactyly of finger, Absent phalangeal crease, Distal arthrogryposis, Mandibular prognathia, ...	OMIM:601680
Ververi-Brady Syndrome	Metaphyseal irregularity, High palate, Wide mouth, Short stature, Clinodactyly of the 5th finger,...	OMIM:617982
Joubert Syndrome 10	Deep philtrum, Growth delay, Postaxial polydactyly, Thick vermilion border	OMIM:300804
Wolcott-Rallison Syndrome	Double outlet right ventricle, Short stature, Jaundice, Atrial septal defect, Growth delay, Metap...	ORPHA:1667
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Ventricular septal defect, Atrial septal defect	OMIM:614249
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Congenital Heart Defects, Multiple Types, 2	Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A...	OMIM:614980
Schneckenbecken Dysplasia	Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Anter...	OMIM:269250
19Q13.11 Microdeletion Syndrome	Retrognathia, Finger syndactyly, Ventricular septal defect, Wide mouth, Toe syndactyly, Clinodact...	ORPHA:217346
Hypertelorism, Microtia, Facial Clefting Syndrome	2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Micrognathia, Narrow mouth, Abnormal heart...	OMIM:239800
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Bilateral radial aplasia, Esop...	OMIM:300514
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Flexion contracture, High palate, Ventricular septal defect, Hyperextensibility of the finger joi...	OMIM:309520
Caudal Duplication	Spina bifida, Omphalocele, Myelomeningocele, Intestinal duplication	ORPHA:1756
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Select...	OMIM:305620
Pulmonary Capillary Hemangiomatosis	Cyanosis, Hemothorax, Pulmonary edema, Pericardial effusion, Hypoxemia, Clubbing of fingers, Diff...	ORPHA:199241
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Ventricular septal defect, Widely spaced teet...	OMIM:618067
Trisomy 17P	Patent ductus arteriosus, Flexion contracture, Tapered finger, High palate, Wide mouth, Short sta...	ORPHA:261290
C Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, High palate, Abnormality of the anus, Long ...	ORPHA:1308
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly	ORPHA:2091
Distal Trisomy 5Q	Absent thumb, Hernia, Ventricular septal defect, Long philtrum, Short stature, Hypoplasia of the ...	ORPHA:96097
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Short stature, Bilateral...	OMIM:601186
Limb Body Wall Complex	Broad hallux, Spina bifida occulta, Abnormal intestine morphology, Aplasia of the proximal phalan...	ORPHA:2369
15Q14 Microdeletion Syndrome	Ventricular septal defect, Long philtrum, Short stature, Short philtrum, Atrial septal defect, In...	ORPHA:261190
Faciocardiomelic Dysplasia, Lethal	Retrognathia, Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Micrognat...	OMIM:227270
Chromosome 15Q25 Deletion Syndrome	Cleft upper lip, Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery f...	OMIM:614294
Distal Monosomy 19P13.3	Pulmonary valve atresia, Ventricular septal defect, Keloids, Vaginal hernia, Short philtrum, Hypo...	ORPHA:96129
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Short 5th finger, Toe syndactyly, Micrognathia, Microdontia, Smooth philtrum, Cleft palate, Ventr...	OMIM:610759
Surfactant Metabolism Dysfunction, Pulmonary, 3	Cyanosis, Intraalveolar phospholipid accumulation, Nodular pattern on pulmonary HRCT, Desquamativ...	OMIM:610921
Rhizomelic Chondrodysplasia Punctata, Type 2	Flexion contracture, High palate, Rhizomelia, Micrognathia, Epiphyseal stippling, Short humerus, ...	OMIM:222765
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Knee flexion contracture, Cyanotic episode, Micrognathia, Limb joint contracture, Ankle flexion c...	ORPHA:284417
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	High palate, Ventricular septal defect, Death in infancy, Thyroid lymphangiectasia, Micrognathia,...	OMIM:235255
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs	OMIM:138790
Codas Syndrome	Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Short stature, Abnormalit...	ORPHA:1458
Aortic Arch Interruption	Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Cyanosis, Abnormal...	ORPHA:2299
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C...	ORPHA:2839
Microphthalmia With Limb Anomalies	Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol...	ORPHA:1106
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Double outlet right ventricle, Narrow palate, Short stature, Atrial sep...	OMIM:618223
Acute Interstitial Pneumonia	Cyanosis, Nodular pattern on pulmonary HRCT, Bronchiectasis, Pericardial effusion, Subpleural hon...	ORPHA:79126
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Abnormal cardiac septum morphology, Cutaneous finger syndactyly, Short stature, Mic...	OMIM:613026
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, 2-3 toe syndactyly, Bifid tongue, Micrognathia, Hip dislocation, P...	ORPHA:818
Thanatophoric Dysplasia, Type Ii	Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Flared metaphysis, Wide-cupped costochond...	OMIM:187601
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Shoulder dislocation, Spatulate thumbs, Hallux valgus, Micrognathia, Elbow flexion contracture, M...	OMIM:245600
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Anencephaly, Bifid uvula, Camptodactyly, Postaxial foot polydactyly,...	OMIM:614175
Arterial Tortuosity Syndrome	Aortic tortuosity, Ventricular hypertrophy, Flexion contracture, Ischemic stroke, Micrognathia, B...	OMIM:208050
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Patent ductus arteriosus, Atrioventricular canal defect, Horizontal ribs, Postaxial polydactyly, ...	OMIM:617088
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Patent foramen ovale, Enamel hypoplasia, Pierre-Robin sequence, Short long bone...	OMIM:619184
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Tapered finger, Long philtrum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Acrocya...	OMIM:614407
Alagille Syndrome	Ventricular septal defect, Micrognathia, Clinodactyly of the 5th finger, Short philtrum, Atrial s...	ORPHA:52
Myoectodermal Gonadal Dysgenesis Syndrome	Bifid distal phalanx of the thumb, Diastasis recti, Long philtrum, Short stature, Cutaneous finge...	OMIM:618419
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, High palate, Aspiration pneumonia, Deep philtrum, Micrognathia, Recurrent pneumonia,...	ORPHA:314655
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Ventricular septal defect, Vascular ring, Hydrocephalus, Atrial septal ...	OMIM:603387
Hand-Foot-Genital Syndrome	Ventricular septal defect, Short 1st metacarpal, Short first metatarsal, Synostosis of carpal bon...	ORPHA:2438
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Symphalangism affecting the phalanges of the hand, Long philtrum, Abnormal mitral valve morpholog...	ORPHA:1292
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the upper limb, Narrow palate, Crowded maxillary incisors, Aplasia/Hypoplasia of t...	ORPHA:2063
Bohring-Opitz Syndrome	Flexion contracture, Tapered finger, Micrognathia, Camptodactyly, Overlapping toe, Dislocated rad...	OMIM:605039
Marden-Walker Syndrome	High palate, Long philtrum, Joint contracture of the hand, Micrognathia, Pyloric stenosis, Postna...	OMIM:248700
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Patent foramen ovale, 2-3 toe syndactyly, Mandibular prognathia, Micrognathia, Ingu...	OMIM:618914
Basal Cell Nevus Syndrome 1	Palmar pits, Polydactyly, Bifid ribs, Mandibular prognathia, Short 4th metacarpal, Cleft upper li...	OMIM:109400
Pericardial And Diaphragmatic Defect	Patent ductus arteriosus, Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partia...	ORPHA:2847
Laurin-Sandrow Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication...	ORPHA:2378
Robinow Syndrome	Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Mesomelic arm shortening...	ORPHA:97360
Marbach-Rustad Progeroid Syndrome	Eruption failure, Delayed eruption of primary teeth, Short stature, Micrognathia, Reduced subcuta...	OMIM:619322
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent ductus arteriosus, Patent foramen ovale, Short 5th finger, Ventricular septal defect, Bicu...	ORPHA:500159
Mosaic Variegated Aneuploidy Syndrome 2	Subvalvular aortic stenosis, Ventricular septal defect, Rhizomelia, Short stature, Micrognathia, ...	OMIM:614114
De Barsy Syndrome	Delayed eruption of teeth, Progeroid facial appearance, Small, conical teeth, Prominent veins on ...	ORPHA:2962
Cornelia De Lange Syndrome 1	2-3 toe syndactyly, Delayed eruption of teeth, Micrognathia, Elbow flexion contracture, Dislocate...	OMIM:122470
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Pulmonary Arteriovenous Malformation	Cyanosis, Pulmonary hemorrhage, Telangiectasia, Bacterial endocarditis, Pleural empyema, Hemothor...	ORPHA:2038
Classical-Like Ehlers-Danlos Syndrome Type 2	Shoulder dislocation, Hallux valgus, Pericardial effusion, Micrognathia, Hip dislocation, Elbow d...	ORPHA:536532
Acropectorovertebral Dysplasia	Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Spina bifida, Synostosis of carp...	ORPHA:957
22Q11.2 Duplication Syndrome	Ventricular septal defect, Micrognathia, Interrupted aortic arch, Hypoplastic left heart, Growth ...	ORPHA:1727
Doors Syndrome	Short 5th finger, Short lingual frenulum, Spina bifida occulta, Sirenomelia, Cleft palate, Gingiv...	ORPHA:79500
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Ventricular septal defect, Small hand, Hypoplastic frontal sinuses, Sho...	OMIM:300712
Basel-Vanagaite-Smirin-Yosef Syndrome	2-3 toe syndactyly, Broad distal phalanx of the toes, Overlapping toe, Everted lower lip vermilio...	ORPHA:464738
Tyshchenko Syndrome	Narrow palate, Ventricular septal defect, High palate, Short stature, Atrial septal defect, Intra...	OMIM:615102
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Microcolon, Neoplasm of the heart, Intestinal malrotation, Omphalocele, Umbilic...	ORPHA:2241
Ogden Syndrome	Everted upper lip vermilion, Ventricular septal defect, Microretrognathia, Broad hallux, Inguinal...	ORPHA:276432
Cranioectodermal Dysplasia 2	Horizontal ribs, Polydactyly, Micrognathia, Microdontia, Everted lower lip vermilion, Smooth phil...	OMIM:613610
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, 2-3 toe syndactyly, Absent thumb, Retrognathia, Truncus arteriosus, Ven...	OMIM:617516
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Recurrent pneumonia, R...	OMIM:619769
Ulnar-Mammary Syndrome	Camptodactyly of finger, Ventricular septal defect, Abnormal finger morphology, Ectopic anus, Apl...	ORPHA:3138
Severe X-Linked Intellectual Disability, Gustavson Type	Triphalangeal thumb, Contractures of the large joints, Ventricular septal defect, Micrognathia, C...	ORPHA:3078
Diamond-Blackfan Anemia 7	Patent ductus arteriosus, Triphalangeal thumb, Ventricular septal defect, Secundum atrial septal ...	OMIM:612562
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Everted lower lip vermilion, Subm...	OMIM:608670
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Wide mouth, Clinodactyly, Macroglossia, Everted lower lip vermilion, Open m...	OMIM:616789
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Ventricular septal defect, Short stature, Microretrognathia, Atrial sep...	ORPHA:457193
Retinitis Pigmentosa 89	Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly	OMIM:618955
Lethal Acantholytic Erosive Disorder	Natal tooth, 2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of toe, Clinodactyly of ...	ORPHA:158687
Ventricular Septal Defect 3	Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect	OMIM:614432
Joubert Syndrome 17	3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly	OMIM:614615
Weill-Marchesani Syndrome 2	Elbow flexion contracture, Ascending aortic dissection, Proportionate short stature, Flexion cont...	OMIM:608328
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Broad phalanges of the hand, Narrow palate, Ventricular septal defect, ...	OMIM:277600
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Wide mouth, Short stature, Thick lower lip vermi...	OMIM:618027
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Patent ductus arteriosus, Flexion contracture, Tapered finger, Ventricular septal defect, Interph...	OMIM:613870
Neu-Laxova Syndrome 1	Toe syndactyly, Micrognathia, Camptodactyly, Pulmonary hypoplasia, Radial deviation of finger, Li...	OMIM:256520
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:612526
Lethal Kniest-Like Dysplasia	Abnormality of the ischium, Hypoplastic ilia, Mesomelic/rhizomelic limb shortening, Short ribs, A...	ORPHA:2347
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tapered finger, Delayed eruption of teeth, Micrognathia, Camptodactyly, Pulm...	OMIM:619148
Dysosteosclerosis	Ventricular septal defect, Short stature, Delayed eruption of teeth, Coarse metaphyseal trabecula...	ORPHA:1782
Sifrim-Hitz-Weiss Syndrome	Patent ductus arteriosus, Tapered finger, Ventricular septal defect, Short femoral neck, Short st...	OMIM:617159
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Ventricular septal defect, Intrauterine growth retardation	OMIM:617021
Wolf-Hirschhorn Syndrome	Abnormal cardiac septum morphology, Micrognathia, Abnormal lip morphology, Short hallux, Cleft pa...	ORPHA:280
Braddock Syndrome	Preaxial hand polydactyly, Short stature, Micrognathia, Missing ribs, Pulmonary fibrosis, Intraut...	ORPHA:52047
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Neonatal short-limb short stature, Advanced ossification of carpal bones, Encephalocele, Joint co...	OMIM:224400
Rubinstein-Taybi Syndrome 1	Polydactyly, Flexion contracture, Micrognathia, Flared iliac wing, Duplication of phalanx of hall...	OMIM:180849
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect, Aqueductal stenos...	OMIM:619895
Pseudoaminopterin Syndrome	Hip subluxation, Short 4th metacarpal, Micrognathia, Microdontia, Clinodactyly of the 5th toe, Cl...	ORPHA:221120
Noonan Syndrome 2	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, Palmopl...	OMIM:605275
Cloacal Exstrophy	Cloacal exstrophy, Bladder exstrophy, Myelomeningocele, Spina bifida, Hip dislocation, Anal atres...	ORPHA:93929
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Abnormal cardiac septum morphology, Short s...	ORPHA:250989
Cenani-Lenz Syndactyly Syndrome	Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Hypodontia, Radioulnar synostosis, Hyp...	OMIM:212780
Neurooculocardiogenitourinary Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ...	OMIM:618652
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Ventricular septal defect, Short stature, Micrognathia, Inguinal...	ORPHA:166035
Halperin-Birk Syndrome	Flexion contracture, High palate, Perimembranous ventricular septal defect, Micrognathia, Hip dis...	OMIM:618651
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Patellar hypoplasia, Patellar aplasia, Coxa vara, High palate, Short stature, Micrognathia, Flat ...	OMIM:147891
Heart Defects, Congenital, And Other Congenital Anomalies	Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Cervical ribs, Pulmonary artery sten...	OMIM:600001
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Short stature, Preaxial foot polydactyly, Absent tibia, Mirror image foot po...	OMIM:119800
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Small hand, Short stature, Clinodactyly of the 5th finger, Microretrognathia, ...	ORPHA:1786
Gm1-Gangliosidosis, Type I	Thickened ribs, Death in infancy, Dilated cardiomyopathy, Hypoplastic vertebral bodies, Hypertrop...	OMIM:230500
Congenital Disorder Of Glycosylation, Type Iio	Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero...	OMIM:616828
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Abnormal palate morphology, Genu valgum, Tetralogy of Fallot, Anal atresia	ORPHA:1381
Weyers Ulnar Ray/Oligodactyly Syndrome	Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Micrognathia, Hand oligodac...	OMIM:602418
Intellectual Developmental Disorder, Autosomal Dominant 66	Aortic root aneurysm, Secundum atrial septal defect, Clinodactyly of the 5th finger, Toe clinodac...	OMIM:619910
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Micrognathia, Microdontia, Broad hallux, Slender finger, Cle...	ORPHA:251028
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Chime Syndrome	Microdontia, Hip dislocation, Cleft palate, Short palm, Ventricular septal defect, Abnormality of...	ORPHA:3474
Opitz-Kaveggia Syndrome	Multiple joint contractures, Micrognathia, Camptodactyly, Broad hallux, Radial deviation of finge...	OMIM:305450
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, 2-3 toe syndactyly, Ectodermal dysplasia, Conical tooth, Cleft upper li...	OMIM:106260
Lateral Meningocele Syndrome	Patent ductus arteriosus, Meningocele, High palate, Ventricular septal defect, Long philtrum, Kel...	OMIM:130720
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Triphalangeal thumb, 11 pairs of ribs, High palate, Absent forearm, Short stature, M...	OMIM:201170
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Horizontal ribs, Short long bone, Brachydactyly, Recurrent respiratory infections, Postaxial poly...	OMIM:615633
Rabson-Mendenhall Syndrome	Polydactyly, Mandibular prognathia, High palate, Ventricular septal defect, Premature graying of ...	ORPHA:769
Congenital Total Pulmonary Venous Return Anomaly	Cyanosis, Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmona...	ORPHA:99125
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Aplasia/Hypoplasia of...	ORPHA:2990
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Ventricular septal defect, Short stature, Brachydactyly, Dextrotransposition of the ...	OMIM:619995
Syngap1-Related Developmental And Epileptic Encephalopathy	Cutaneous photosensitivity, High palate, Abnormal tongue physiology, Wide mouth, Narrow mouth, Th...	ORPHA:544254
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Abnormal metaphysis morphology, Large iliac wing, Delayed eruption of teeth, Microg...	ORPHA:2780
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal palate morphology...	ORPHA:261183
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Patent ductus arteriosus, Ventricular septal defect, Short ribs, Atrial septal defect, Postaxial ...	ORPHA:2519
Jacobsen Syndrome	Abnormality of the anus, Ectopic anus, Toe syndactyly, Hip dislocation, Smooth philtrum, Short to...	ORPHA:2308
Atelosteogenesis Type Ii	Short phalanx of finger, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Elb...	ORPHA:56304
Arthrogryposis, Distal, Type 3	Short phalanx of finger, Camptodactyly of finger, Knee flexion contracture, Distal arthrogryposis...	OMIM:114300
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, 2-3 toe syndactyly, High palate, Ventricular septal defect, Short philtrum, Atrial ...	OMIM:616449
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Ventricular septal defect, Camptodactyly, Short philtrum, Atrial septal def...	OMIM:301039
Diamond-Blackfan Anemia 1	Absent thumb, Micrognathia, Hypoplastic sacral vertebrae, Cleft palate, Ventricular septal defect...	OMIM:105650
Pallister-Killian Syndrome	Short phalanx of finger, Flexion contracture, Delayed eruption of teeth, Micrognathia, Bifid uvul...	OMIM:601803
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Micrognathia, Atrial septal defect, Broad thumb, Smooth ph...	OMIM:614526
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Seckel Syndrome 9	Ventricular septal defect, Short stature, Micrognathia, Atrial septal defect, Pulmonary artery hy...	OMIM:616777
Cardiac-Valvular Ehlers-Danlos Syndrome	Absent phalangeal crease, Recurrent shoulder dislocation, Genu valgum, Aortic root aneurysm, High...	ORPHA:230851
Diamond-Blackfan Anemia 11	Absent thumb, Forearm reduction defects, Short stature, Hypoplasia of the radius, Bicuspid aortic...	OMIM:614900
Microcephaly 30, Primary, Autosomal Recessive	Pierre-Robin sequence, Cleft soft palate, Secundum atrial septal defect, Clinodactyly of the 5th ...	OMIM:620183
Arterial Tortuosity Syndrome	Coxa valga, Abnormal carotid artery morphology, Hip dislocation, Hypertrophic cardiomyopathy, Pul...	ORPHA:3342
19P13.12 Microdeletion Syndrome	Ventricular septal defect, Finger syndactyly, Long philtrum, Hypodontia, Clinodactyly of the 5th ...	ORPHA:254346
Yunis-Varon Syndrome	Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered...	ORPHA:3472
Fixed Subaortic Stenosis	Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Ascending tubula...	ORPHA:3092
Holoprosencephaly 7	Hypoplasia of the premaxilla, Bilateral cleft lip, Occipital meningocele, Hydrocephalus, Semiloba...	OMIM:610828
Serkal Syndrome	Ventricular septal defect, Malrotation of small bowel, Pulmonary hypoplasia, Congenital diaphragm...	ORPHA:139466
Distal Tetrasomy 15Q	Patent ductus arteriosus, Retrognathia, Flexion contracture, Hernia, High palate, Micrognathia, H...	ORPHA:314588
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Perianal erythema, Ectodermal dysplasia, Short stature, Death in infancy, Aganglionic megacolon, ...	OMIM:308205
Myhre Syndrome	2-3 toe syndactyly, Pericardial effusion, Camptodactyly, Overlapping toe, Radial deviation of fin...	OMIM:139210
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect, Morgagni diaphragmatic hernia, Short stature...	OMIM:613309
Multiple Synostoses Syndrome 1	Thick upper lip vermilion, 2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial devia...	OMIM:186500
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Patent ductus arteriosus, Tapered finger, Small hand, Long philtrum, Short stature, Recurrent res...	OMIM:300968
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Microcephaly-Micromelia Syndrome	Short tibia, Absent thumb, Aqueductal stenosis, Humeroradial synostosis, Micrognathia, Missing ri...	OMIM:251230
Gm1 Gangliosidosis	Camptodactyly of finger, Limb undergrowth, Abnormal metaphysis morphology, Gingival overgrowth, A...	ORPHA:354
Johnson Neuroectodermal Syndrome	Patent ductus arteriosus, Retrognathia, Ventricular septal defect, Short stature, Growth delay, C...	OMIM:147770
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Hydrocephalus, Ventricular septal defect, Postaxial polydactyly	OMIM:219730
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ...	OMIM:604169
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Left ventricular hypertrophy, Clinodactyly of t...	OMIM:618619
Hutchinson-Gilford Progeria Syndrome	Cyanosis, Ventricular hypertrophy, Coxa valga, Delayed eruption of teeth, Short lingual frenulum,...	ORPHA:740
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Congenital pulmonary airway malformation, Intestinal malrotation, Rect...	ORPHA:436252
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Intrauterine growth retardation, Hypoplastic ischia	OMIM:616910
Teebi-Shaltout Syndrome	Ventricular septal defect, Wide mouth, High, narrow palate, Short stature, Caudal appendage, Olig...	OMIM:272950
Acro-Renal-Mandibular Syndrome	Micrognathia, Hip dislocation, Pulmonary hypoplasia, Rudimentary to absent tibiae, Orofacial clef...	ORPHA:958
Keutel Syndrome	Ventricular septal defect, Short stature, Recurrent sinusitis, Pulmonary artery stenosis, Short d...	ORPHA:85202
Robinow Syndrome, Autosomal Dominant 2	Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Gingival overgrowth, Calvarial oste...	OMIM:616331
Loeys-Dietz Syndrome 1	Micrognathia, Bifid uvula, Camptodactyly, Ascending aortic dissection, Bicuspid pulmonary valve, ...	OMIM:609192
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Retrognathia, Gingival recession, Vascular dilatation, Micrognathia, Atrophic scars, Camptodactyl...	OMIM:618343
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Subvalvular aortic stenosis, Hip subluxation, Flexion contracture, Tapered finger, Cleft soft pal...	OMIM:619503
Growth Hormone Insensitivity Syndrome	Hypercholesterolemia	ORPHA:181393
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Hydrocephalus, Conotruncal defect, Cleft palate	OMIM:243440
Tibial Hemimelia	Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me...	ORPHA:93322
Indomethacin Embryofetopathy	Ventricular septal defect, Atrial septal defect, Cardiomyopathy	ORPHA:1909
Agnathia-Otocephaly Complex	Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Pulmonary hypoplasia, Holoprosen...	OMIM:202650
Orofaciodigital Syndrome X	Retrognathia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Cleft pa...	OMIM:165590
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis, Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow trac...	ORPHA:216694
Colonic Atresia	Peptic ulcer, Gastroschisis, Duodenal stenosis, Colonic atresia, Omphalocele, Abdominal situs inv...	ORPHA:1198
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Coxa valga, Tapered finger, Ventricular septal defect, Perimembranous vent...	OMIM:301040
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Death in infancy	OMIM:616277
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Weakness of long finger extensor muscles, High palate, Triceps weakness, Weakness of th...	ORPHA:98913
Meckel Syndrome, Type 3	Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate,...	OMIM:607361
Enlarged Parietal Foramina	Myelomeningocele, Abnormal cerebral vein morphology, Broad thumb, Venous malformation, Cleft lip,...	ORPHA:60015
Cutis Laxa, Autosomal Recessive, Type Ic	Morgagni diaphragmatic hernia, Micrognathia, Pulmonary hypoplasia, Progeroid facial appearance, P...	OMIM:613177
Orofaciodigital Syndrome Type 1	Lip pit, Micrognathia, Median cleft lip, Postaxial hand polydactyly, Odontogenic neoplasm, Cleft ...	ORPHA:2750
Aorta Coarctation	Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi...	ORPHA:1457
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Tapered finger, Camptodactyly, Broad hallux, Smooth philtrum, Cleft palate, Ventricular septal de...	OMIM:301044
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Micrognathia, Bifid uvula, Abnormal oral frenulum morphology, Pulmonary ...	ORPHA:2753
Achondrogenesis, Type Ii	Hypoplastic iliac wing, Horizontal ribs, Short tubular bones of the hand, Long philtrum, Short ri...	OMIM:200610
Adams-Oliver Syndrome	Abnormality of the upper limb, Encephalocele, Finger syndactyly, Pulmonary artery atresia, Arteri...	ORPHA:974
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short phalanx of finger, Flexion contracture, High palate, Acroosteolysis of distal phalanges (fe...	OMIM:608612
Primary Non-Essential Cutis Verticis Gyrata	Ventricular septal defect, Atrial septal defect, Keloids	ORPHA:357225
Hypotonia, Infantile, With Psychomotor Retardation	Open mouth, Ventricular septal defect	OMIM:616816
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick upper lip vermilion, Ventricular septal defect, Short stature, Short lingual frenulum, Micr...	OMIM:617360
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Recurrent pneumonia, ...	OMIM:617751
Noonan Syndrome With Multiple Lentigines	Atrioventricular canal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dil...	ORPHA:500
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Coxa valga, Ventricular septal defect, Wide mouth, Short stature, Slender long bone...	OMIM:212066
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Hand clenching, Ventricular septal defect, Thick lower lip vermilion, In...	OMIM:616920
Platyspondylic Dysplasia, Torrance Type	Genu varum, Metaphyseal cupping, Abnormal carpal morphology, Pulmonary hypoplasia, Hypoplastic pe...	ORPHA:85166
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Esophageal atresia, Coarctation of aorta, ...	ORPHA:1923
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, High palate, Short stature, Microdontia, Abnormal metacarpal mor...	ORPHA:1307
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect, Natal tooth, Death in infancy, Short stature, Micrognathia, Death in c...	OMIM:616901
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Ascending tubular aorta aneurysm, High palate, Ventricular septal ...	ORPHA:453499
Coffin-Siris Syndrome 4	Patent ductus arteriosus, Mitral atresia, Short 5th finger, Ventricular septal defect, Everted up...	OMIM:614609
Congenital Tracheal Stenosis	Patent ductus arteriosus, Cyanosis, Anomalous origin of left pulmonary artery from ascending aort...	ORPHA:141127
Andersen Cardiodysrhythmic Periodic Paralysis	Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Scapular wing...	OMIM:170390
Pallister-Hall Syndrome	Atrioventricular canal defect, Short 4th metacarpal, Toe syndactyly, Bifid uvula, Hip dislocation...	ORPHA:672
Larsen Syndrome	Spatulate thumbs, Hip dislocation, Elbow dislocation, Spina bifida occulta, Bipartite calcaneus, ...	OMIM:150250
Neurocardiofaciodigital Syndrome	Patent ductus arteriosus, Polydactyly, Retrognathia, High palate, Short stature, Atrial septal de...	OMIM:619869
Cardiac Valvular Dysplasia 2	Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ...	OMIM:620067
Non-Syndromic Posterior Hypospadias	Esophageal atresia, Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Omphalocele	ORPHA:95706
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ...	OMIM:617044
Hajdu-Cheney Syndrome	Abnormal mandible morphology, Micrognathia, Thin vermilion border, Cleft palate, Short toe, Ventr...	ORPHA:955
Cranioectodermal Dysplasia 3	2-3 toe syndactyly, Ectodermal dysplasia, Rhizomelia, Short stature, Widely spaced teeth, Microgn...	OMIM:614099
Delpire-Mcneill Syndrome	Tracheoesophageal fistula, Hip dislocation, Ventricular septal defect	OMIM:619083
X Small Rings	Aortic root aneurysm, 2-3 toe syndactyly, Upper limb undergrowth, Tapered finger, Ventricular sep...	ORPHA:96201
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Large hands, Joint contracture of the hand, Widely spaced teeth, Thick...	OMIM:280000
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Cleft upper lip, Ventricular septal defect	OMIM:214300
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, High palate, Ventricular septal defect, Deep philtrum, Micrognathia, Clinod...	OMIM:613884
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Cervical ribs, Postax...	OMIM:312870
Noonan Syndrome 8	Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Short stature, Left...	OMIM:615355
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, 2-3 toe syndactyly, Aortic root aneurysm, Finger syndactyly, Aortopulmonary win...	OMIM:620025
Kleefstra Syndrome 1	Mandibular prognathia, Conotruncal defect, Natal tooth, Macroglossia, Everted lower lip vermilion...	OMIM:610253
Brachytelephalangic Chondrodysplasia Punctata	Patent ductus arteriosus, Epiphyseal stippling of toe phalanges, Stippling of the epiphyses of th...	ORPHA:79345
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Pulmonary hypoplasia, Micromelia, Postaxial hand polydactyly, Extrapulmonary s...	OMIM:200995
Kinsship Syndrome	Polydactyly, Coxa valga, Micrognathia, Hip dislocation, Cervical ribs, Dislocated radial head, Sm...	OMIM:619297
Hsd10 Disease, Infantile Type	Cyanosis, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cleft upper lip, Preaxial hand polydactyly, Bifid tongue, Long philtrum, Ectopic anus, Short ribs...	ORPHA:93271
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy	ORPHA:444013
16P13.11 Microdeletion Syndrome	Metatarsus valgus, Camptodactyly of finger, Cleft upper lip, Ventricular septal defect, Wide mout...	ORPHA:261236
Congenital Heart Defects, Multiple Types, 3	Persistent left superior vena cava, Tetralogy of Fallot, Abnormal heart morphology, Atrial septal...	OMIM:614954
Apnea, Central Sleep	Cyanosis	OMIM:207720
Surfactant Metabolism Dysfunction, Pulmonary, 2	Cyanosis, Intralobular septal thickening, Intraalveolar phospholipid accumulation, Desquamative i...	OMIM:610913
Branchio-Oculo-Facial Syndrome	Non-midline cleft lip, Preaxial hand polydactyly, High palate, Premature graying of hair, Upper l...	ORPHA:1297
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Patent ductus arteriosus, Hernia, Pierre-Robin sequence, Abnormal cardiac septum morphology, Micr...	OMIM:217980
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Microdontia, Hypodontia, Hydrocephalus, Short philtrum, Hypoplasia of the ...	OMIM:601499
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Short phalanx of finger, Hip subluxation, Cleft mandible, Short 5th finger, Microgna...	OMIM:268305
Transaldolase Deficiency	Patent ductus arteriosus, Patent foramen ovale, Telangiectasia, Ventricular septal defect, Wide m...	OMIM:606003
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Wide mouth, Toe syndactyly, Microdontia, Hypoplasia of the maxilla, Grow...	ORPHA:920
Wolf-Hirschhorn Syndrome	Micrognathia, Hip dislocation, Metatarsus adductus, Short hallux, Cleft palate, Pseudoepiphyses o...	OMIM:194190
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, High palate, Abnormal carpal morphology, Abnormal cardiac septum...	ORPHA:1225
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Facial telangiectasia, Hallux valgus, Elbow flexion contracture, Camptod...	OMIM:602782
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Short stature, Slender long bone, Micrognathia, Brachydactyly, Cleft palate, Arthro...	OMIM:618265
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Dental malocclusion, Ventricular septal defect, Micrognathia, Velophary...	OMIM:613680
Trisomy 20P	Camptodactyly of finger, Preaxial hand polydactyly, Hernia, Finger syndactyly, Ectopic anus, Spin...	ORPHA:261318
Meckel Syndrome, Type 11	Polydactyly, Occipital encephalocele	OMIM:615397
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short phalanx of finger, Micrognathia, Elbow flexion contracture, Aplasia/hypoplasia involving bo...	ORPHA:508533
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Ventricular septal defect, Death in infancy, Hip dysplasia, Micrognathia, J...	OMIM:208085
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Non-midline cleft lip, Finger syndactyly, Ventricular septal defect, Delayed erupt...	ORPHA:1071
Distal Trisomy 17Q	Genu valgum, High palate, Hallux valgus, Rhizomelia, Wide mouth, Short stature, Micrognathia, Han...	ORPHA:3379
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	High palate, Ventricular septal defect, Micrognathia, Pulmonary lymphangiectasia, Inguinal hernia...	ORPHA:1655
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Lung abscess, Clubbing, Pneumonia, ...	OMIM:610910
Verloove Vanhorick-Brubakk Syndrome	Non-midline cleft lip, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Micrognathia, Abnormal...	ORPHA:3429
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr...	OMIM:605814
Feingold Syndrome Type 1	Patent ductus arteriosus, 2-3 toe syndactyly, Jejunal atresia, Short middle phalanx of the 5th fi...	ORPHA:391641
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr...	OMIM:108900
Synpolydactyly 2	Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar...	OMIM:608180
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Knee flexion contracture, Hip contracture, Ventricular septal defect, Short stature, Cutaneous fi...	OMIM:178110
Shprintzen-Goldberg Craniosynostosis Syndrome	Minimal subcutaneous fat, Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radial hea...	OMIM:182212
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Foot polydactyly, Micrognathia, Hydrocephalus, Coarctation of aorta, T...	ORPHA:268249
Frontometaphyseal Dysplasia	Short diaphyses, Wrist flexion contracture, Camptodactyly of finger, Short phalanx of finger, Mic...	ORPHA:1826
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Submucou...	ORPHA:2521
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, 11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Hydroc...	ORPHA:77298
Marden-Walker Syndrome	Camptodactyly of finger, Retrognathia, Arachnodactyly, Ventricular septal defect, Micrognathia, P...	ORPHA:2461
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Communicating hydrocephalus, Hernia of the abdominal wall, Anomalous pu...	ORPHA:2184
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Abnormal cardiac septum morpholog...	ORPHA:1352
Cerebellar-Facial-Dental Syndrome	Dental malocclusion, Foot joint contracture, Infancy onset short-trunk short stature, Tapered fin...	ORPHA:444072
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short phalanx of finger, Short toe, Gingival hyperkeratosis, Short stature, Micrognathia, Hypodon...	OMIM:225410
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Short stature, Atrial septal defect, Situs inversus totalis, Stroke, C...	OMIM:249270
Van Esch-O'Driscoll Syndrome	Retrognathia, Pulmonary valve atresia, Ventricular septal defect, Wide mouth, Esophageal atresia,...	OMIM:301030
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Bilateral lung agenesis, Pulmonary hypoplasia, Congenital diaphragmati...	OMIM:611812
Atrioventricular septal defect 3	Cyanosis, Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal de...	OMIM:600309
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent...	OMIM:238600
Fraser Syndrome	Anal stenosis, Dental malocclusion, Cleft upper lip, Wide pubic symphysis, Finger syndactyly, Enc...	ORPHA:2052
Giant Cell Arteritis	Abdominal aortic aneurysm, Abnormal pleura morphology, Recurrent pharyngitis, Glossitis, Pericard...	ORPHA:397
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Radial club hand, Preaxial hand polydactyly, Finger syndactyly, Toe syndacty...	ORPHA:959
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia	OMIM:616267
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Jejunal atresia, Death in infan...	ORPHA:989
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Patent ductus arteriosus, Atrioventricular canal defect, Camptodactyly of finger, Retrognathia, N...	ORPHA:3047
Cerebellofaciodental Syndrome	Dental malocclusion, Genu valgum, Tapered finger, Ventricular septal defect, Macrodontia of perma...	OMIM:616202
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect, Short stature, Pyloric stenosis, Hydrocephal...	OMIM:218350
Pulmonary Alveolar Microlithiasis	Cyanosis, Bronchitis, Respiratory tract infection, Pneumothorax, Subpleural interstitial thickeni...	ORPHA:60025
Eosinophilic Granulomatosis With Polyangiitis	Endocarditis, Abnormal pericardium morphology, Abnormal pleura morphology, Malabsorption, Transie...	ORPHA:183
Meacham Syndrome	Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Ventricular septal defect,...	ORPHA:3097
Monosomy 9Q22.3	Palmar pits, Polydactyly, Odontogenic keratocysts of the jaw, Long philtrum, Delayed eruption of ...	ORPHA:77301
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Micrognathia, Atrial septal defect, Hypoplasia of the maxilla, Pursed l...	OMIM:241310
Cyanosis, Transient Neonatal	Cyanosis, Jaundice	OMIM:613977
Trisomy 8P	Abnormal atrioventricular connection, Multiple joint contractures, Clinodactyly of the 5th toe, B...	ORPHA:264450
Costello Syndrome	Narrow palate, Ventricular septal defect, Short stature, Thick lower lip vermilion, Mitral valve ...	ORPHA:3071
Atelosteogenesis, Type I	Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbow dislocation, Limb u...	OMIM:108720
Omodysplasia 1	Short tibia, Limited elbow flexion, Anterolateral radial head dislocation, Ventricular septal def...	OMIM:258315
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect, Death in infancy	OMIM:613730
Van Den Ende-Gupta Syndrome	Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Disl...	OMIM:600920
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Clubbing, Crazy paving pattern, Foa...	ORPHA:747
Hajdu-Cheney Syndrome	Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Dislocated ra...	OMIM:102500
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P...	OMIM:615986
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Wide mouth, Short stature, Atrial septal defect, Hypertrophic cardiomy...	OMIM:615279
Rhombencephalosynapsis	Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, E...	ORPHA:59315
Lateral Meningocele Syndrome	Meningocele, High palate, Ventricular septal defect, Micrognathia, Craniofacial hyperostosis, Den...	ORPHA:2789
Thakker-Donnai Syndrome	Ventricular septal defect, Rectovaginal fistula, Communicating hydrocephalus, Anal atresia, Trach...	ORPHA:1780
Radio-Tartaglia Syndrome	Retrognathia, Tapered finger, Ventricular septal defect, High palate, Long philtrum, Wide mouth, ...	OMIM:619312
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short phalanx of finger, Ventricular hypertrophy, Shoulder dislocation, Camptodactyly of finger, ...	OMIM:143095
Mend Syndrome	Polydactyly, 2-3 toe syndactyly, High palate, Short stature, Micrognathia, Hydrocephalus, Microre...	OMIM:300960
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect, Death in infancy, Malabsorption, Micrognathi...	ORPHA:452
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Clinodactyly, Thin upper lip vermilion, Smooth philtrum, Brachyda...	ORPHA:313781
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val...	ORPHA:284169
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
Sotos Syndrome	Patent ductus arteriosus, Genu valgum, Mandibular prognathia, Narrow palate, Ventricular septal d...	OMIM:117550
Campomelic Dysplasia	Short phalanx of finger, Irregular dentition, Spinal dysraphism, Hallux valgus, Micrognathia, Hip...	OMIM:114290
Classical Ehlers-Danlos Syndrome	Shoulder dislocation, Pulp calcification, Incisional hernia, Hip dislocation, Dislocated radial h...	ORPHA:287
Mucopolysaccharidosis, Type Vi	Hypoplastic acetabulae, Flexion contracture, Delayed eruption of teeth, Flared iliac wing, Dispro...	OMIM:253200
Keutel Syndrome	Ventricular septal defect, Deep philtrum, Shortening of all distal phalanges of the fingers, Epip...	OMIM:245150
Paternal Uniparental Disomy Of Chromosome 6	Patent ductus arteriosus, Retrognathia, Abdominal wall defect, High palate, Ventricular septal de...	ORPHA:96191
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m...	ORPHA:1455
Koolen-De Vries Syndrome	Hip dislocation, Everted lower lip vermilion, Slender finger, Cleft palate, Aortic root aneurysm,...	OMIM:610443
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Contractures of the large joints, Long philtrum, Wide mouth, Micrognathia, Hip disl...	ORPHA:96092
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Bifid tongue, Aplasia/Hypoplasia of the lungs, Abnormal metacar...	ORPHA:2167
Kleefstra Syndrome	Mandibular prognathia, Hernia, Ventricular septal defect, Short stature, Delayed eruption of teet...	ORPHA:261494
Nephronophthisis 15	Polydactyly	OMIM:614845
Ciliary Dyskinesia, Primary, 30	Chronic bronchitis, Ventricular septal defect, Bronchiectasis, Chronic sinusitis, Situs inversus ...	OMIM:616037
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Duode...	ORPHA:3405
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Pulmonary edema, Pericardial effusion, Hydrocephalus, Macroglossia, Pleural effusion, H...	OMIM:261740
Mosaic Trisomy 20	Retrognathia, Ventricular septal defect, Abnormal mitral valve morphology, Craniofacial asymmetry...	ORPHA:1724
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Hypertrophic cardiomyopathy	OMIM:610773
Cleidocranial Dysplasia 1	Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Micrognathia, Hip dislocatio...	OMIM:119600
Congenital Alveolar Capillary Dysplasia	Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep...	ORPHA:210122
Buerger Disease	Acrocyanosis, Vasculitis	ORPHA:36258
3Q29 Microduplication Syndrome	High palate, Ventricular septal defect, Ectopic anus, Deep philtrum, Toe syndactyly, Camptodactyl...	ORPHA:251038
Faciocardiomelic Syndrome	Polydactyly, Dental malocclusion, Long philtrum, Wide mouth, Slender long bone, Micrognathia, Hyp...	OMIM:612731
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Tapered finger, High palate, Wide mouth, Exaggerated cupid's bow, Bicuspid aortic valv...	OMIM:614501
Cousin Syndrome	Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Micrognathia, Camptodacty...	OMIM:260660
Coffin-Lowry Syndrome	Coxa valga, Tapered finger, Everted lower lip vermilion, Narrow palate, Hyperextensibility of the...	OMIM:303600
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Ventricular septal defect, Atrial septal defect, Stroke	ORPHA:49827
Pontocerebellar Hypoplasia, Type 17	Patent ductus arteriosus, Ventricular septal defect, Secundum atrial septal defect, Microretrogna...	OMIM:619909
Ablepharon-Macrostomia Syndrome	Short upper lip, Ventral hernia, Short metacarpal, Cutaneous finger syndactyly, Toe syndactyly, W...	OMIM:200110
Beck-Fahrner Syndrome	High palate, Ventricular septal defect, Long philtrum, Hip dysplasia, Cardiomegaly, Open mouth	OMIM:618798
Hereditary Methemoglobinemia	Cyanosis, Lip discoloration	ORPHA:621
Coffin-Siris Syndrome 1	Conical tooth, Coxa valga, Delayed eruption of teeth, Microdontia, Dislocated radial head, Spina ...	OMIM:135900
Choanal Atresia	Cyanosis, Polydactyly, Recurrent respiratory infections, Chronic sinusitis	ORPHA:137914
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Chromosome 16P13.3 Duplication Syndrome	Tapered finger, Micrognathia, Microdontia, Bifid uvula, Hip dislocation, Camptodactyly, Smooth ph...	OMIM:613458
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Patent ductus arteriosus, 2-3 toe syndactyly, Short 5th finger, Ventricular septal defect, Hypere...	ORPHA:163979
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Left ventricular hypertrophy, Clubbing of fingers, Clubbing of toes, Pulmonary artery d...	ORPHA:99106
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna, Neonatal death, Endocardial fibroelastosis	OMIM:276822
Robinow Syndrome, Autosomal Recessive 1	Bifid tongue, Micrognathia, Dislocated radial head, Radial deviation of finger, Absent uvula, Sho...	OMIM:268310
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Short metacarpal, Short stature, Micrognathia, Metaphyseal chondrodysp...	OMIM:250410
Breath-Holding Spells	Cyanosis	OMIM:607578
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Hip dysplasia, Abnormal heart morphology, Intrauterine g...	ORPHA:494344
Nestor-Guillermo Progeria Syndrome	Dental malocclusion, Flexion contracture, Limited elbow movement, Short stature, Micrognathia, At...	OMIM:614008
Adams-Oliver Syndrome 5	Patent foramen ovale, Syndactyly, Inguinal hernia, Right ventricular hypertrophy, Brachydactyly, ...	OMIM:616028
Adams-Oliver Syndrome 1	Cleft upper lip, Encephalocele, Ventricular septal defect, Toe syndactyly, Bicuspid aortic valve,...	OMIM:100300
Thalidomide Embryopathy	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly...	ORPHA:3312
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hernia, Ventricular septal defect, Hypoplastic tr...	ORPHA:2255
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Retrognathia, High palate, Ventricular septal defect, Short stature, Cl...	ORPHA:52055
Lenz-Majewski Hyperostotic Dwarfism	Humeroradial synostosis, Micrognathia, Elbow flexion contracture, Spina bifida occulta, Cleft pal...	OMIM:151050
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Bifid uvula, Cleft palate, Aortic dissection, Dilatation of the sinus of...	ORPHA:284984
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary...	OMIM:618780
Zellweger Syndrome	High palate, Ventricular septal defect, Short stature, Death in infancy, Malabsorption, Micrognat...	ORPHA:912
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Death in infancy, Hip dysplasia, Jaundice, Arthrogryposis multiplex co...	OMIM:613404
Diets-Jongmans Syndrome	Ventricular septal defect, Wide mouth, Short stature, Hip dysplasia, Inguinal hernia, Congenital ...	OMIM:618846
Kawasaki Disease	Palmoplantar erythema, Abnormal pulmonary interstitial morphology, Ascending tubular aorta aneury...	ORPHA:2331
Noonan Syndrome 10	Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, High palate, Short ...	OMIM:616564
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Meier-Gorlin Syndrome 1	Flexion contracture, Coxa valga, Micrognathia, Microdontia, Camptodactyly, Elbow dislocation, Abs...	OMIM:224690
Oeis Complex	11 pairs of ribs, Duplicated colon, Myelomeningocele, Absence of the sacrum, Hydrocephalus, Anal ...	OMIM:258040
Kohlschutter-Tonz Syndrome-Like	2-3 toe syndactyly, Enamel hypoplasia, Ventricular septal defect, Small hand, Delayed eruption of...	OMIM:619229
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, High palate, Long philtrum, Short philtrum, Coarctation of aorta, ...	OMIM:618929
Kaufman Oculocerebrofacial Syndrome	High palate, Ventricular septal defect, Short stature, Micrognathia, Coarctation of aorta, Clinod...	OMIM:244450
Intellectual Developmental Disorder, Autosomal Dominant 47	Widely-spaced incisors, Ventricular septal defect, Wide mouth, Intrauterine growth retardation	OMIM:617635
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:615812
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Absent thumb, Ventricular septal defect, Short 1st metacarpal, Short statur...	OMIM:609053
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polydactyly, Micrognathia, Broad hallux, Abnormal subclavian artery morphology, Pneumonia, Widene...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polydactyly, Micrognathia, Broad hallux, Abnormal subclavian artery morphology, Pneumonia, Widene...	ORPHA:353277
Coffin-Siris Syndrome	Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Hernia, Delayed eruption o...	ORPHA:1465
Bent Bone Dysplasia Syndrome 2	Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,...	OMIM:620076
Joubert Syndrome 16	Polydactyly, Encephalocele	OMIM:614465
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Abnormal cardiac septum morphology, Macroglossia, Coarctation of aorta, Evert...	ORPHA:96147
Mandibuloacral Dysplasia Progeroid Syndrome	Osteolytic defects of the phalanges of the hand, Flexion contracture, Micrognathia, Palmoplantar ...	OMIM:619127
Feingold Syndrome	Patent ductus arteriosus, Hallux valgus, Short stature, Esophageal atresia, Toe syndactyly, Micro...	ORPHA:1305
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect, Recurrent aspiration pneumonia, Single transverse...	ORPHA:79243
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Right ventricular dilatation, Unroofed coronary sinus, Transient ischemic attack, Anoma...	ORPHA:99104
Opitz Gbbb Syndrome	Cleft upper lip, High palate, Ventricular septal defect, Anal atresia, Unilateral cleft lip, Ingu...	OMIM:300000
Jacobsen Syndrome	Flexion contracture, Ventricular septal defect, Micrognathia, Pyloric stenosis, Missing ribs, Cli...	OMIM:147791
16Q24.3 Microdeletion Syndrome	High palate, Ventricular septal defect, Long philtrum, Wide mouth, Micrognathia, Hip dysplasia, D...	ORPHA:261250
Helsmoortel-Van Der Aa Syndrome	Polydactyly, Tapered finger, Microdontia, Broad hallux, Everted lower lip vermilion, Smooth philt...	OMIM:615873
Fucosidosis	Lipoatrophy, Acrocyanosis, Vascular skin abnormality, Cardiomegaly, Abnormality of the dentition	ORPHA:349
Congenital Myasthenic Syndrome	Cyanosis, High palate, Microretrognathia, Congenital hip dislocation, Recurrent respiratory infec...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, High palate, Microretrognathia, Congenital hip dislocation, Recurrent respiratory infec...	ORPHA:98914
Chiari Malformation Type Ii	Cyanosis, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy	OMIM:207950
22Q11.2 Deletion Syndrome	Meningocele, Truncus arteriosus, Micrognathia, Retinal arteriolar tortuosity, Abnormal aortic arc...	ORPHA:567
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Arthrogryposis multiplex congenita	OMIM:607598
Loeys-Dietz Syndrome 3	Aortic tortuosity, Ventricular hypertrophy, Pneumothorax, Bifid uvula, Camptodactyly, Ascending a...	OMIM:613795
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Partial atrioventricular canal defect, Chronic sinusitis, Intestinal malrotation, Situs inversus ...	OMIM:619608
Lacrimoauriculodentodigital Syndrome 1	2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox...	OMIM:149730
Acromelic Frontonasal Dysplasia	Meningocele, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Encephalocele, Wide mouth, Mid...	ORPHA:1827
Peroxisome Biogenesis Disorder 1A (Zellweger)	Patent ductus arteriosus, High palate, Ulnar deviation of the hand or of fingers of the hand, Ven...	OMIM:214100
Intellectual Developmental Disorder, Autosomal Dominant 36	Hip dysplasia, Hydrocephalus, Deviation of the 5th finger, Broad hallux, Tented upper lip vermili...	OMIM:616362
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Micrognathia, Ventricular septal defect, Hydrocephalus, Aortic aneurysm, ...	ORPHA:96121
Intellectual Developmental Disorder, Autosomal Recessive 71	Increased overbite, Prune belly, Ventricular septal defect	OMIM:618504
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand, Short stature	OMIM:245800
Bladder Exstrophy	Abnormality of the anus, Intestinal malrotation, Inguinal hernia, Bladder exstrophy, Omphalocele,...	ORPHA:93930
Multiple Pterygium Syndrome, Escobar Variant	Flexion contracture, Multiple joint contractures, Micrognathia, Camptodactyly, Hip dislocation, P...	OMIM:265000
Fanconi Anemia	Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Toe syndactyly, Micrognat...	ORPHA:84
Noonan Syndrome 4	Dental malocclusion, Ventricular septal defect, Wide mouth, Short stature, Atrial septal defect, ...	OMIM:610733
Ulnar-Mammary Syndrome	Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Ventricular septal defec...	OMIM:181450
10Q22.3Q23.3 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Microretrognathia, Intestinal polyposis,...	ORPHA:276413
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Omphalocele, Anal stenosis	OMIM:248450
Infant Acute Respiratory Distress Syndrome	Cyanosis, Respiratory tract infection, Pulmonary edema, Hypoxemia, Pneumonia, Atelectasis	ORPHA:70587
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Ventricular septal defect, Deep philtrum, Atrial septal defect, Thin...	OMIM:615879
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bifid tongue, Exaggerated median tongue furrow, Bifid uvula, Tooth agenesis, Cleft palate, Talipe...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bifid tongue, Exaggerated median tongue furrow, Bifid uvula, Tooth agenesis, Cleft palate, Talipe...	ORPHA:352665
Diamond-Blackfan Anemia 12	Triphalangeal thumb, Ventricular septal defect	OMIM:615550
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Ascending tubular aorta aneurysm, Truncus arteriosus, Micrognathia, Microdontia, Bifid uvula, Cam...	OMIM:612474
Khan-Khan-Katsanis Syndrome	Patent foramen ovale, Bilateral superior vena cava with no bridging vein, Short stature, Patent d...	OMIM:618460
Ogden Syndrome	Metatarsus valgus, Thick upper lip vermilion, Everted upper lip vermilion, Minimal subcutaneous f...	OMIM:300855
Aicardi-Goutieres Syndrome 1	Petechiae, Short stature, Multiple gastric polyps, Vasculitis, Acrocyanosis, Purpura, Erythema, P...	OMIM:225750
X-Linked Intellectual Disability, Armfield Type	Patent ductus arteriosus, Mandibular prognathia, Abnormality of the elbow, Abnormal cardiac septu...	ORPHA:85276
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Smith-Lemli-Opitz Syndrome	Hip subluxation, 2-3 toe syndactyly, Micrognathia, Epiphyseal stippling, Hip dislocation, Bifid u...	OMIM:270400
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly...	ORPHA:570
Townes-Brocks Syndrome 1	2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsal synostosis, Ho...	OMIM:107480
Joubert Syndrome 39	Hypoplastic left heart, Occipital encephalocele, Postaxial polydactyly, Joint contracture of the ...	OMIM:619562
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic arm shortening, Meningocele, Rhizomelic leg shortening, Small cervical vertebral bodie...	ORPHA:397715
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Renpenning Syndrome 1	Mandibular prognathia, High palate, Ventricular septal defect, Joint contracture of the hand, Sho...	OMIM:309500
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Cellulitis, Micrognathia, C...	OMIM:153400
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Retrognathia, High palate, Ventricular septal defect, Short stature, Re...	OMIM:300472
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Brachydactyly, Polydactyly, Short stature, Short long bone	OMIM:613819
Neonatal Marfan Syndrome	Aortic root aneurysm, Flexion contracture, Ascending tubular aorta aneurysm, High, narrow palate,...	ORPHA:284979
Exstrophy-Epispadias Complex	Abdominal wall defect, Spina bifida, Hydrocephalus, Anal atresia, Abnormality of the abdominal wa...	ORPHA:322
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Histiocytoid Cardiomyopathy	Cyanosis, Ventricular septal defect, Pulmonary edema, Hydrocephalus, Stroke-like episode, Cardiom...	ORPHA:137675
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Tapered finger, Toe syndactyly, Everted lower lip vermilion, Pulmonary artery stenosis, Smooth ph...	ORPHA:459070
Congenital Disorder Of Glycosylation, Type It	Pierre-Robin sequence, Ventricular septal defect, Short stature, Micrognathia, Bifid uvula, Dilat...	OMIM:614921
Laryngeal Abductor Paralysis	Cyanosis, Talipes equinovarus	OMIM:150260
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Long philtrum, Bronchiectasis, Emphysema, Inguinal hernia, Progeroid f...	OMIM:123700
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Right aortic arch, Coarctation of aorta	OMIM:140850
Marfan Syndrome	Meningocele, Aortic tortuosity, Ascending tubular aorta aneurysm, Micrognathia, Pulmonary artery ...	ORPHA:558
Feingold Syndrome 1	Patent ductus arteriosus, 2-3 toe syndactyly, Short toe, High palate, Ventricular septal defect, ...	OMIM:164280
Mend Syndrome	2-3 toe syndactyly, High palate, Short stature, Micrognathia, Hydrocephalus, Hand polydactyly, As...	ORPHA:401973
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, High palate, Ventricular septal defect, Long philtrum, Bicuspid aortic valv...	ORPHA:457279
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Diastasis recti, Large intestinal polyposis, Wide mouth, Macroglossia, Hyp...	ORPHA:116
Phocomelia, Schinzel Type	Meningocele, Humeroradial synostosis, Micrognathia, Ectrodactyly, Cleft palate, Aplasia/Hypoplasi...	ORPHA:2879
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Ventricular septal defect, Wide mouth, Thick lower lip vermilion, Submucou...	OMIM:619103
Tetrasomy 9P	Abnormal cardiac septum morphology, Micrognathia, Bifid uvula, Pulmonary hypoplasia, Pericarditis...	ORPHA:3310
Bardet-Biedl Syndrome 1	High palate, Foot polydactyly, Hypodontia, Aganglionic megacolon, Left ventricular hypertrophy, P...	OMIM:209900
Ivic Syndrome	Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno...	ORPHA:2307
Pitt-Hopkins Syndrome	Tooth malposition, Tapered finger, Small hand, Wide mouth, Aganglionic megacolon, Postnatal growt...	ORPHA:2896
King-Denborough Syndrome	Short stature, High palate, Ventricular septal defect, Deep philtrum	OMIM:619542
Osteogenesis Imperfecta	Flexion contracture, Noncommunicating hydrocephalus, Delayed eruption of teeth, Micrognathia, Pul...	ORPHA:666
Kyphomelic Dysplasia	Cleft upper lip, Anterior rib cupping, Short metacarpal, Radial bowing, Micrognathia, Flat acetab...	OMIM:211350
Congenital Analbuminemia	Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia	ORPHA:86816
Leigh Syndrome With Leukodystrophy	Hypertrophic cardiomyopathy, Ventricular septal defect	ORPHA:255241
Acrorenal-Mandibular Syndrome	Narrow palate, High palate, Toe syndactyly, Foot polydactyly, Elbow flexion contracture, Hypoplas...	OMIM:200980
Curry-Jones Syndrome	Preaxial hand polydactyly, Lip pit, 2-3 finger syndactyly, Preaxial foot polydactyly, Occipital m...	OMIM:601707
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hip subluxation, High palate, Ventricular septal ...	OMIM:613457
Noonan Syndrome 9	Pulmonic stenosis, Ventricular septal defect, Short stature, Coarctation of aorta	OMIM:616559
Fontaine Progeroid Syndrome	Pneumothorax, Recurrent aspiration pneumonia, Micrognathia, Reduced subcutaneous adipose tissue, ...	OMIM:612289
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Polydactyly, Patent foramen ovale, Flexion contracture, Interrupted aor...	ORPHA:17
Curry-Jones Syndrome	Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Intestinal malrot...	ORPHA:1553
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cyanosis, Hepatic arteriovenous malformation, Ischemic stroke, Fingerpad telangiectases, Subarach...	OMIM:187300
Distal 22Q11.2 Microduplication Syndrome	Patent ductus arteriosus, Camptodactyly of finger, Mandibular prognathia, Tapered finger, Ventric...	ORPHA:261337
Meckel Syndrome	Preaxial hand polydactyly, Encephalocele, Furrowed tongue, Aplasia/Hypoplasia of the tongue, Micr...	ORPHA:564
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly,...	OMIM:227646
Zttk Syndrome	Flexion contracture, Bifid uvula, Unilateral lung agenesis, Cervical ribs, Intestinal atresia, Ve...	OMIM:617140
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, 2-3 toe syndactyly, Dental malocclusion, High palate, Ventricular septa...	OMIM:606232
Chops Syndrome	Patent ductus arteriosus, Patent foramen ovale, Aspiration pneumonia, Ventricular septal defect, ...	OMIM:616368
Cardiac-Urogenital Syndrome	Patent ductus arteriosus, 2-3 toe syndactyly, Cor triatrium sinister, Ventricular septal defect, ...	OMIM:618280
Floating-Harbor Syndrome	Ivory epiphyses of the distal phalanges of the hand, Short middle phalanx of the 2nd finger, Micr...	OMIM:136140
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Vasculitis, Acrocyanosis, Purpura, Intestinal obstruction, Erythem...	ORPHA:343
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, 2-3 toe syndactyly, Mandibular prognathia, Diastasis recti, Ventricular septal ...	ORPHA:488632
Robinow Syndrome, Autosomal Dominant 1	Bifid tongue, Delayed eruption of teeth, Short lingual frenulum, Micrognathia, Dislocated radial ...	OMIM:180700
Meckel Syndrome, Type 5	Cleft upper lip, Anencephaly, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palat...	OMIM:611561
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Patent ductus arteriosus, Varicose veins, Peripheral arterial stenosis, Ventricular septal defect	OMIM:126320
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Ventricular septal defect, Tibial torsion, Thick vermilion b...	ORPHA:500095
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol...	ORPHA:567548
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hallux valgus, Widely ...	OMIM:300967
Septooptic Dysplasia	Polydactyly, Short finger, Short stature	OMIM:182230
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Aganglionic megacolon, Abnormal pelvis bone morphology, Oligodactyly, In...	ORPHA:2273
Spondylo-Ocular Syndrome	Long philtrum, Ventricular septal defect, Short stature, Thin vermilion border, Disproportionate ...	ORPHA:85194
Noonan Syndrome 1	Patent ductus arteriosus, Dental malocclusion, High palate, Ventricular septal defect, Short stat...	OMIM:163950
Lenz-Majewski Hyperostotic Dwarfism	Bifid uvula, Cleft palate, Abnormal metaphysis morphology, Prematurely aged appearance, Short pal...	ORPHA:2658
Yunis-Varon Syndrome	Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe syndactyly, Micrognathia, Hypopl...	OMIM:216340
Genitourinary And/Or Brain Malformation Syndrome	Jejunal atresia, Long philtrum, Micrognathia, Syndactyly, Holoprosencephaly, Ileal atresia, Ompha...	OMIM:618820
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad first metatarsal, Atrioventricular canal defect, Polydactyly, Unbalanced atrioventricular c...	OMIM:619534
Cerebrooculonasal Syndrome	Encephalocele, Narrow palate, High palate, Long philtrum, Postnatal growth retardation, Hydroceph...	OMIM:605627
Hunter-Macdonald Syndrome	Patent ductus arteriosus, 2-3 toe syndactyly, Pseudoepiphyses, Joint contracture of the hand, Sho...	OMIM:611962
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia	OMIM:277460
Ehlers-Danlos Syndrome, Vascular Type	Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Pneumothorax, Finger joint ...	OMIM:130050
Degcags Syndrome	Polydactyly, Premature graying of hair, Toe syndactyly, Micrognathia, Smooth philtrum, Pneumonia,...	OMIM:619488
Joubert Syndrome 7	Postaxial hand polydactyly, Genu valgum, Encephalocele, Postaxial polydactyly	OMIM:611560
Blomstrand Lethal Chondrodysplasia	Metaphyseal cupping, Aplastic clavicle, Rhizomelia, Short metacarpal, Short ribs, Natal tooth, Mi...	ORPHA:50945
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Preaxial hand polydactyly, Clinodactyly of the 5th finger, Pulm...	ORPHA:96179
Peters-Plus Syndrome	Short lingual frenulum, Micrognathia, Thin vermilion border, Conical incisor, Square pelvis bone,...	OMIM:261540
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated bronchoalveolar lavage fluid neutrophil proportion, Ventricular septal defect, Hypoxemia...	OMIM:610978
Kapur-Toriello Syndrome	Patent ductus arteriosus, Ventricular septal defect, Intestinal malrotation, Tetralogy of Fallot,...	ORPHA:2328
Fetal Akinesia Deformation Sequence 1	Camptodactyly of finger, Wrist flexion contracture, Ulnar deviation of the hand or of fingers of ...	OMIM:208150
Radio-Renal Syndrome	Retrognathia, Abnormality of the elbow, Hypoplasia of the radius, Micrognathia, Micromelia, Pleur...	ORPHA:3015
Dravet Syndrome	Cyanotic episode, Tibial torsion	ORPHA:33069
Townes-Brocks Syndrome	Abnormal cardiac septum morphology, Toe syndactyly, Absent toe, Abnormal rib morphology, Atrial s...	ORPHA:857
Atrial Septal Defect 1	Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi...	OMIM:108800
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev...	ORPHA:64753
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short 5th toe, Polydactyly, Retrognathia, Tapered finger, Ventricular septal defect, Hallux valgu...	ORPHA:268261
Restrictive Dermopathy	Camptodactyly of finger, Ascending tubular aorta aneurysm, Multiple joint contractures, Micrognat...	ORPHA:1662
Cutis Marmorata Telangiectatica Congenita	Patent ductus arteriosus, Abnormality of the upper limb, Finger syndactyly, Subcutaneous hemorrha...	ORPHA:1556
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:209902
Goldberg-Shprintzen Syndrome	Tapered finger, Ventricular septal defect, Small hand, Aganglionic megacolon, Oligodontia, Clinod...	OMIM:609460
Au-Kline Syndrome	Retrognathia, Dental malocclusion, Aortic root aneurysm, Coxa valga, Bifid tongue, High palate, H...	OMIM:616580
Fanconi Anemia, Complementation Group N	Short thumb, Ventricular septal defect, Postnatal growth retardation	OMIM:610832
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Flexion contracture, High palate, Ventricular septal defect, Corneal scarring, Gr...	OMIM:614653
Dyrk1A-Related Intellectual Disability Syndrome	Patent ductus arteriosus, Polydactyly, Hallux valgus, Ventricular septal defect, Multiple joint c...	ORPHA:464306
Joubert Syndrome 23	Polydactyly	OMIM:616490
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H...	ORPHA:247598
Joubert Syndrome 15	Polydactyly	OMIM:614464
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Polydactyly, Chronic bronchitis	OMIM:616629
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Poems Syndrome	Metaphyseal sclerosis, Pericardial effusion, Acrocyanosis, Clubbing of fingers, Pleural effusion,...	ORPHA:2905
Craniotubular Dysplasia, Ikegawa Type	Thick upper lip vermilion, Broad femoral neck, Ventricular septal defect, Long philtrum, Short st...	OMIM:619727
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Pontocerebellar Hypoplasia, Type 8	Patent foramen ovale, Ventricular septal defect, Tented upper lip vermilion, Arthrogryposis multi...	OMIM:614961
Eisenmenger Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Cyanosis, Bacterial endocarditis, Aortop...	ORPHA:97214
Microform Holoprosencephaly	Short stature, Short philtrum, Duodenal atresia, Solitary median maxillary central incisor, Holop...	ORPHA:280200
Adnp Syndrome	2-3 toe syndactyly, Polydactyly, Abnormal finger morphology, Short stature, Thick lower lip vermi...	ORPHA:404448
Arboleda-Tham Syndrome	Recurrent aspiration pneumonia, Secundum atrial septal defect, Short hallux, Cleft palate, Genu v...	OMIM:616268
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
Blackfan-Diamond Anemia	Triphalangeal thumb, Absent thumb, Abnormality of the upper limb, Abnormality of the thenar emine...	ORPHA:124
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Mandibular aplasia, Micrognathia, Bifid uvula, Elbow dislocation, Abnorm...	ORPHA:2554
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Lobulated tongue, Deviation of the hallux, Bifid tongue, Ventricular se...	ORPHA:434179
Wrinkly Skin Syndrome	Palmoplantar cutis laxa, Delayed eruption of teeth, Microdontia, Progeroid facial appearance, Smo...	OMIM:278250
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Tapered finger, Hallux valgus, Abnormality of the abdominal wall, Overlapping toe, Abnormal perio...	ORPHA:480880
Arnold-Chiari Malformation Type Ii	Cyanosis, Meningocele, Myelomeningocele, Aqueductal stenosis, Hand muscle atrophy, Hydrocephalus,...	ORPHA:1136
Galactokinase Deficiency	Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia	ORPHA:79237
Meckel Syndrome, Type 7	Patent ductus arteriosus, Atrial septal defect, Postaxial foot polydactyly, Inguinal hernia, Situ...	OMIM:267010
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Atrioventricular canal defect, Tapered finger, Dermatographic urticaria...	OMIM:619480
Baller-Gerold Syndrome	Absent thumb, Aplasia of metacarpal bones, Micrognathia, Bifid uvula, Aphalangy of the hands, Spi...	OMIM:218600
Encephalocraniocutaneous Lipomatosis	Subvalvular aortic stenosis, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Lipo...	OMIM:613001
Trichothiodystrophy	Retrognathia, Enamel hypoplasia, Cutaneous photosensitivity, Absence of subcutaneous fat, Ventric...	ORPHA:33364
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the frontal bone, Cranium bifidum occultum, Pectoral muscl...	ORPHA:306542
Restrictive Dermopathy 1	Flexion contracture, Micrognathia, Pulmonary hypoplasia, Rocker bottom foot, Short umbilical cord...	OMIM:275210
Roberts-Sc Phocomelia Syndrome	Wrist flexion contracture, Absent thumb, Tetraphocomelia, Elbow flexion contracture, Micrognathia...	OMIM:268300
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Cardiomyopathy	ORPHA:159
Trichohepatoneurodevelopmental Syndrome	Patent ductus arteriosus, Distal arthrogryposis, High palate, Ventricular septal defect, Wide mou...	OMIM:618268
Peroxisome Biogenesis Disorder 5A (Zellweger)	High palate, Ventricular septal defect, Death in infancy, Micrognathia, Jaundice, Epiphyseal stip...	OMIM:614866
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hypercholesterolemia	ORPHA:77296
Beckwith-Wiedemann Syndrome	Diastasis recti, Macroglossia, Cardiomegaly, Omphalocele, Cardiomyopathy	OMIM:130650
Telangiectasia, Hereditary Hemorrhagic, Type 4	Cyanosis, Palate telangiectasia, Venous varicosities of celiac and mesenteric vessels, Dilatation...	OMIM:610655
Cryptogenic Organizing Pneumonia	Cyanosis, Pneumothorax, Hypoxemia	ORPHA:1302
Joubert Syndrome 37	Short stature, High palate, Postaxial polydactyly	OMIM:619185
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Short 5th finger, Abnormality of the anus, Bifid uvula, Camptodactyly, M...	OMIM:607872
Cardiospondylocarpofacial Syndrome	Patent foramen ovale, Pseudoepiphyses, Ventricular septal defect, Long philtrum, Wide mouth, Shor...	OMIM:157800
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Preaxial foot polydactyly, Atrial septal defect, Postaxial hand polydactyly, ...	OMIM:619471
Cog1-Cdg	Coxa valga, Rhizomelia, High palate, Short long bone, Pierre-Robin sequence, Micrognathia, Long p...	ORPHA:263508
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Combined Oxidative Phosphorylation Deficiency 15	Small hand, Ventricular septal defect, Short stature, Ventricular septal hypertrophy, Inguinal he...	OMIM:614947
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Short sta...	OMIM:616975
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad hallux, Pneumonia, Talon cusp, Narrow palate, Ventricular septal defect, Avascular necrosis...	ORPHA:353281
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri...	OMIM:610338
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Citrullinemia Type Ii	Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H...	ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele...	OMIM:619662
Transketolase Deficiency	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ...	ORPHA:488618
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, High palate, Long philtrum, Palmoplantar hyperhidrosis, Microgn...	OMIM:617527
Cornelia De Lange Syndrome	Delayed eruption of teeth, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Clef...	ORPHA:199
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Neurodevelopmental Disorder With Language Delay And Seizures	Growth delay, Ventricular septal defect	OMIM:619908
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cyanosis, Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Fingerpad t...	OMIM:600376
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Generalized Arterial Calcification Of Infancy	Cyanosis, Ventricular hypertrophy, Stippled calcification of the shoulder, Arterial calcification...	ORPHA:51608
Trichohepatoenteric Syndrome 1	Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Villous atrophy, ...	OMIM:222470
Peters Plus Syndrome	Abnormal cardiac septum morphology, Toe syndactyly, Micrognathia, Abnormality of the pulmonary ar...	ORPHA:709
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Patent ductus arteriosus, Patent foramen ovale, Aortic root aneurysm, High palate, Ventricular se...	OMIM:617506
Dysbetalipoproteinemia	Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr...	ORPHA:412
Fanconi Anemia, Complementation Group C	Absent thumb, Flexion contracture, Complete duplication of thumb phalanx, Ventricular septal defe...	OMIM:227645
Hypermobile Ehlers-Danlos Syndrome	Gingivitis, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aorta aneurys...	ORPHA:285
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Coronary sinus enlargement, Ventricular septal defect, Long philtrum, Short...	OMIM:619268
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Ventricular septal defect, Growth delay, Palmoplantar keratoderma, Recurrent respiratory infectio...	OMIM:615508
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Growth delay	OMIM:250800
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left sup...	OMIM:618775
Duane Retraction Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Hypoplasia of th...	ORPHA:233
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth, Ventricular septal defect, Growth delay	OMIM:234050
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Hand clenching, Protruding tongue	OMIM:619580
Charge Syndrome	Aortic arch aneurysm, Abnormal cardiac septum morphology, Delayed eruption of teeth, Abnormal sof...	ORPHA:138
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Perimembranous ventricular septal defect, Micrognathia, Pyloric stenosis, Pulmonary...	ORPHA:83617
Loeys-Dietz Syndrome	Patent ductus arteriosus, Camptodactyly of finger, Vascular dilatation, High palate, Micrognathia...	ORPHA:60030
Kabuki Syndrome 1	Short 5th finger, Recurrent aspiration pneumonia, Micrognathia, Anoperineal fistula, Cleft palate...	OMIM:147920
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Hardikar Syndrome	Cleft soft palate, Celiac disease, Pulmonary artery stenosis, Bilateral cleft lip and palate, Pat...	OMIM:301068
Floating-Harbor Syndrome	Microdontia, Dislocated radial head, Celiac disease, Avascular necrosis of the capital femoral ep...	ORPHA:2044
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Ventricular septal defect, Wide mouth, Short femur, Intestinal malrotation, Growth d...	OMIM:617798
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Congenital Gerbode Defect	Bacterial endocarditis, Vascular dilatation, Ventricular septal defect, Perimembranous ventricula...	ORPHA:99095
Syndromic Diarrhea	Patent ductus arteriosus, Ventricular septal defect, Villous atrophy, Short stature, Bicuspid aor...	ORPHA:84064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Flexion contracture, Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Atrial septal defect, ...	OMIM:253800
Aicardi-Goutières Syndrome	Moyamoya phenomenon, Lipoatrophy, Multiple joint contractures, Short stature, Arrhinencephaly, Ao...	ORPHA:51
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Patent foramen ovale, Genu valgum, High palate, Ventricular septal defect, Abnormality of the sph...	ORPHA:363700
Myopathy With Extrapyramidal Signs	Growth delay, Tented upper lip vermilion, Ventricular septal defect	OMIM:615673
Phace Association	Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven...	OMIM:606519
Atrial Septal Defect, Ostium Secundum Type	Cyanosis, Abnormal mitral valve morphology, Transient ischemic attack, Stroke, Pneumonia, Right v...	ORPHA:99103
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hip subluxation, Aortic root aneurysm, High palat...	ORPHA:444077
Craniofacial Microsomia	Vertebral hypoplasia, Micrognathia, Pulmonary hypoplasia, Cervical ribs, Cleft palate, Genu valgu...	OMIM:164210
Acquired Methemoglobinemia	Cyanosis, Hypoxemia	ORPHA:464453
Unilateral Polymicrogyria	Cyanosis, Pulmonary arteriovenous malformation, Stroke, Abnormal heart morphology	ORPHA:268943
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hip dysplasia, Hydrocephalus, Clinodactyly of the 5th finger, Broad hallux, Inguinal hernia, Hypo...	ORPHA:457284
Saethre-Chotzen Syndrome	Narrow palate, Hallux valgus, Short stature, Partial duplication of the distal phalanx of the 3rd...	OMIM:101400
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly	OMIM:615824
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Lysosomal Acid Lipase Deficiency	Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy...	OMIM:278000
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cyanosis, Concentric hypertrophic cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy, ...	OMIM:252010
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Long hallux, Mitral valve prolapse, Macroglossia, Bowing of the legs, ...	OMIM:617107
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Ventricular septal defect, Everted upper lip vermilion, Widely spac...	ORPHA:513456
Dermatomyositis	Cutaneous photosensitivity, Abnormal pulmonary interstitial morphology, Recurrent respiratory inf...	ORPHA:221
Mgat2-Cdg	Patent ductus arteriosus, Ventricular septal defect, Recurrent upper and lower respiratory tract ...	ORPHA:79329
Congenital Generalized Lipodystrophy	Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:528
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Patent foramen ovale, Ventricular septal defect, Left ventricular hypertrophy, Atr...	ORPHA:466791
Sitosterolemia 1	Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X...	OMIM:210250
Noonan Syndrome 3	Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Short sta...	OMIM:609942
Brain-Lung-Thyroid Syndrome	Patent foramen ovale, Abnormal pulmonary interstitial morphology, Ventricular septal defect, Abno...	ORPHA:209905
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Genu valgum	ORPHA:488627
Legius Syndrome	Polydactyly, Multiple lipomas, Short stature, Mitral valve prolapse, Clinodactyly of the 5th fing...	ORPHA:137605
Laubry-Pezzi Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep...	ORPHA:99094
Diamond-Blackfan Anemia 5	Ventricular septal defect, Short stature	OMIM:612528
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Epiphyseal stippling, Hemiatrophy, Abnormal pelvic girdle bone morphology, Tarsal sti...	OMIM:302960
Costello Syndrome	Lymphangiectasis, High palate, Ventricular septal defect, Hyperextensibility of the finger joints...	OMIM:218040
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Vertebral hypoplasia, Ventricular septal defect, Esophageal atresia, Sh...	OMIM:206900
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect, Short stature	OMIM:618325
Immunodeficiency 87 And Autoimmunity	Atrioventricular canal defect, Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Ja...	OMIM:619573
Digeorge Syndrome	Patent ductus arteriosus, High palate, Truncus arteriosus, Ventricular septal defect, Short statu...	OMIM:188400
Ulbright-Hodes Syndrome	Pneumothorax, Humeroradial synostosis, Micrognathia, Pulmonary hypoplasia, Phocomelia, Abnormal f...	ORPHA:3404
Laryngotracheoesophageal Cleft	Cyanosis, Recurrent respiratory infections	ORPHA:2004
Eosinophilic Fasciitis	Fasciitis, Acrocyanosis, Cellulitis	ORPHA:3165
Senior-Loken Syndrome 8	Polydactyly, Vascular dilatation	OMIM:616307
Acquired Purpura Fulminans	Macular purpura, Acrocyanosis, Intracranial hemorrhage	ORPHA:49566
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Patent ductus arteriosus, Ventricular septal defect, Short stature, Coronary artery fistula, Atri...	OMIM:620024
Alagille Syndrome 1	Ventricular septal defect, Atrial septal defect, Hypoplasia of the ulna, Coarctation of aorta, St...	OMIM:118450
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage, Volvulus, Clinodactyly ...	OMIM:616682
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Short phalanx of finger, Multiple joint contractures, Secundum atrial septal defect, Metaphyseal ...	ORPHA:99646
Vascular Ehlers-Danlos Syndrome	Gingivitis, Ascending tubular aorta aneurysm, Pneumothorax, Microdontia, Abnormal oral frenulum m...	ORPHA:286
Culler-Jones Syndrome	Cleft palate, Cleft upper lip, Short stature, Postaxial polydactyly	OMIM:615849
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Short stature, Hydrocephalus, Short philtrum, Peripheral pulmonary art...	OMIM:619575
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum...	OMIM:620066
Williams-Beuren Syndrome	Flexion contracture, Coronary artery stenosis, Hallux valgus, Premature graying of hair, Colonic ...	OMIM:194050
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	High palate, Ventricular septal defect, Short stature, Atrial septal defect, Hypertrophic cardiom...	OMIM:607721
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Patent ductus arteriosus, Short toe, Tapered finger, Ventricular septal defect, Birth length less...	ORPHA:464311
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata, Abnormal dental pulp morphology, Rootless teeth, Abnormality of th...	ORPHA:416
Koolen-De Vries Syndrome Due To A Point Mutation	Everted lower lip vermilion, Postnatal growth retardation, Ventricular septal defect, Spina bifid...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Everted lower lip vermilion, Postnatal growth retardation, Ventricular septal defect, Spina bifid...	ORPHA:363958
Sepsis In Premature Infants	Cyanosis, Enterocolitis, Petechiae, Jaundice, Purpura	ORPHA:90051
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Preaxial hand polydactyly, Exencephaly, Finger syndactyly, Encephalocele, Long philtrum, Broad th...	ORPHA:2211
Chronic Pneumonitis Of Infancy	Cyanosis, Hypoxemia	ORPHA:91359
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:819
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Shprintzen Omphalocele Syndrome	Thin vermilion border, Omphalocele, Anal atresia, Short stature	OMIM:182210
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Short finger, Broad finger, Broad phalanx of the toes, Cleft palate, U...	ORPHA:1934
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Patent ductus arteriosus, Short 5th finger, Tapered finger, Ventricular septal defect, High palat...	OMIM:619522
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Ventricular septal defect, Rectoperineal fistula, Coarctation of aorta, Hyp...	OMIM:618748
Genitopatellar Syndrome	Short phalanx of finger, Knee flexion contracture, Hip contracture, Ventricular septal defect, Pa...	OMIM:606170
Postinfectious Vasculitis	Bacterial endocarditis, Vascular dilatation, Ischemic stroke, Palpable purpura, Acrocyanosis, Vas...	ORPHA:48435
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect, Long philtrum, Thin upper lip vermilion, Smooth p...	OMIM:619306
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Renal Agenesis	Anal atresia, Pulmonary hypoplasia, Ventricular septal defect, Talipes equinovarus	ORPHA:411709
Omphalocele Syndrome, Shprintzen-Goldberg Type	Anal atresia, Thin upper lip vermilion, Omphalocele, Downturned corners of mouth	ORPHA:3164
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Left ventricular hypertrophy, Ventricular septal defect, Patent forame...	OMIM:615474
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	High palate, Ventricular septal defect, Microretrognathia, Multiple pulmonary cysts, Growth delay...	OMIM:619418
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Intracranial hemorrhage, Ventricular septal defect	ORPHA:369929
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Branchiooculofacial Syndrome	Cleft upper lip, Preaxial hand polydactyly, Branchial anomaly, Premature graying of hair, Lower l...	OMIM:113620
Megalocornea-Mental Retardation Syndrome	Hypercholesterolemia	OMIM:249310
Microphthalmia, Syndromic 6	Retrognathia, Polydactyly, Contracture of thumb, High palate, Finger syndactyly, Toe syndactyly, ...	OMIM:607932
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Proboscis Lateralis	Patent ductus arteriosus, Abnormal paranasal sinus morphology, High palate, Ventricular septal de...	ORPHA:141099
Johanson-Blizzard Syndrome	Vascular dilatation, Colonic diverticula, Ventricular septal defect, Short stature, Malabsorption...	OMIM:243800
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:370
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Short stature, Everted lower lip vermilion, Celiac disease, Delayed puberty, Recurrent ...	ORPHA:293987
Ethylene Glycol Poisoning	Cyanosis, Gastritis, Pulmonary edema	ORPHA:31826
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Flexion contracture, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Abnorm...	ORPHA:261552
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Polydactyly, Postaxial foot polydactyly	OMIM:615989
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Smooth philtrum, Talipes equinovarus, Genu valgum, Ventricular septal defect, Hydrocephalus, Aort...	OMIM:619475
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Hypogeusia, Acrocyanosis, Growth delay	OMIM:223900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent ductus arteriosus, Patent foramen ovale, Retrognathia, Aspiration pneumonia, Ventricular s...	ORPHA:438213
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Flexion contracture, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Abnorm...	ORPHA:261537
Congenital Disorder Of Glycosylation, Type Iiw	Ventricular septal defect, Micrognathia, Ankyloglossia, Supernumerary tooth, Inguinal hernia, Pro...	OMIM:619525
Sotos Syndrome	2-3 toe syndactyly, Flexion contracture, No permanent dentition, Talipes equinovarus, Bilateral c...	ORPHA:821
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Death in childhood, Recurrent lower respiratory tract infections, Death in infancy	OMIM:618426
Leigh Syndrome	Multiple joint contractures, Ventricular septal defect, Hypertrophic cardiomyopathy, Growth delay...	ORPHA:506
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:151660
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Patent ductus arteriosus, Patent foramen ovale, Dilatation of the ve...	OMIM:619991
Mowat-Wilson Syndrome	Patent ductus arteriosus, Ventricular septal defect, Short stature, Delayed eruption of teeth, Wi...	OMIM:235730
Familial Dysautonomia	Abnormal pleura morphology, Recurrent respiratory infections, Acrocyanosis, Growth delay	ORPHA:1764
Orotic Aciduria	Ventricular septal defect, Atrial septal defect	OMIM:258900
Lysinuric Protein Intolerance	Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce...	ORPHA:470
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperlipidemia, Hypercholesterolemia	OMIM:248370
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia	ORPHA:90674
Penile Agenesis	Cloacal abnormality, Ventricular septal defect, Bilateral lung agenesis, Anal atresia, Atrial sep...	ORPHA:49
Gaisböck Syndrome	Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr...	ORPHA:90041
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia	ORPHA:275761
Osteoporosis-Pseudoglioma Syndrome	Metaphyseal widening, Ventricular septal defect, Short stature, Tibial bowing	OMIM:259770
Myasthenia Gravis	Acrocyanosis	ORPHA:589
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata, Peripheral arterial stenosis	OMIM:259900
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Immunodeficiency 47	Decreased circulating copper concentration, Hypercholesterolemia	OMIM:300972
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Median cleft lip and palate, Holoprosencephaly, Delayed puberty, Pituitary dwarfism,...	ORPHA:95494
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hyperuricemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:79259
Goodpasture Syndrome	Cyanosis, Bloody bronchoalveolar lavage fluid, Pulmonary hemorrhage, Nodular pattern on pulmonary...	OMIM:233450
Oculocerebrorenal Syndrome Of Lowe	Hyperaldosteronism, Hyponatremia, Hypophosphatemia, Hypokalemia, Hypercholesterolemia, Hypoammonemia	ORPHA:534
Lowe Oculocerebrorenal Syndrome	Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci...	OMIM:309000
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia	ORPHA:391665
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia	OMIM:606721
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273

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.

There is no histopathology data for Ift25

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 Ift25.

No publications found that use IMPC mice or data for Ift25.

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MGI Allele	Allele Type	Produced
Ift25^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ift25^{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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