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Gene: Chtop MGI:1913761

Gene Summary

Name:

chromatin target of PRMT1

Synonyms:

2500003M10Rik, friend of Prmt1, Fop

Order Alleles

IMPC Data Collections

Body Weight Measurements
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	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Chtop^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	0.00
abnormal joint morphology		Chtop^{tm1a(EUCOMM)Wtsi}	HET		Early adult	1.64×10^-07

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lacZ Expression

Expression data not available

Associated Images

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

Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Forepaw

13 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Chtop^{tm1a(EUCOMM)Wtsi}
WT, Female, WTSI

View all 132 images

Chtop^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

View all 6 images

Chtop^{tm1a(EUCOMM)Wtsi}
persistence of hyaloid vascular system, HET, Male, WTSI

Chtop^{tm1a(EUCOMM)Wtsi}
fused cornea and lens, HET, Male, WTSI

Chtop^{tm1a(EUCOMM)Wtsi}
polydactylous syndactyly, HET, Male, WTSI

Human diseases caused by Chtop 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 Chtop (0 diseases)
Human diseases predicted to be associated with Chtop (2069 diseases)

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

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

Disease	Matching phenotypes	Source
Spondyloarthropathy, Susceptibility To, 2	Abnormal joint morphology	OMIM:183840
Coracoclavicular Joint, Anomalous	Abnormal joint morphology	OMIM:121350
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Ventriculomegaly, Coloboma, ...	ORPHA:508498
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Atrioventricular canal defect, Asplenia, Polyhydramnios, Ventriculomegaly, Micrognathia, Butterfl...	OMIM:265380
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Ventriculomegaly, Spina bifida, Vertebra...	ORPHA:1120
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Abnormal aortic morphology, Abnormal lower lip morphology, Ventricular sep...	ORPHA:1166
Autosomal Recessive Spondylocostal Dysostosis	Meningocele, Camptodactyly of finger, Spina bifida occulta, Abnormality of the ureter, Short neck...	ORPHA:2311
Emanuel Syndrome	Truncus arteriosus, Ventriculomegaly, Ectopic anus, Delayed eruption of teeth, Micrognathia, Mult...	ORPHA:96170
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Polyhydramnios, Hepatomegal...	OMIM:306955
Mosaic Trisomy 9	Camptodactyly of finger, Asplenia, Polyhydramnios, Ventriculomegaly, Renal dysplasia, Micrognathi...	ORPHA:99776
Emanuel Syndrome	Truncus arteriosus, Ventriculomegaly, Micrognathia, Recurrent sinusitis, Cleft palate, Sacral dim...	OMIM:609029
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Cleft maxillary alveolar rid...	ORPHA:508488
Microphthalmia, Syndromic 9	Truncus arteriosus, Micrognathia, Pulmonary hypoplasia, Ventricular septal defect, Bilateral lung...	OMIM:601186
3C Syndrome	Atrioventricular canal defect, Ventriculomegaly, Optic atrophy, Ectopic anus, Micrognathia, Iris ...	ORPHA:7
Ritscher-Schinzel Syndrome 1	Coloboma, Micrognathia, Cleft palate, Double outlet right ventricle, Ventricular septal defect, H...	OMIM:220210
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Subvalvular aortic stenosis, Hip subluxation, Flexion contracture, Medial flaring of the eyebrow,...	OMIM:619503
Femoral-Facial Syndrome	Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Aplasia/hypoplasia of the fe...	OMIM:134780
Holt-Oram Syndrome	Atrioventricular canal defect, Absent thumb, Pectus excavatum, Phocomelia, Abnormal rib morpholog...	ORPHA:392
Spondylodysplastic Ehlers-Danlos Syndrome	Ascending tubular aorta aneurysm, Flexion contracture, Multiple joint contractures, Patellar disl...	ORPHA:536471
Fanconi Anemia	Ventriculomegaly, Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Abnorma...	ORPHA:84
Fg Syndrome Type 1	Ventriculomegaly, Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Smal...	ORPHA:93932
Williams Syndrome	Aortic arch aneurysm, Colonic diverticula, Precocious puberty, Patellar dislocation, Microdontia,...	ORPHA:904
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia/aplas...	ORPHA:2516
Prune Belly Syndrome	Congenital posterior urethral valve, Abnormality of the bladder, Pectus excavatum, Abnormality of...	ORPHA:2970
1P36 Deletion Syndrome	Camptodactyly of finger, Hypothyroidism, Delayed cranial suture closure, Aortic arch aneurysm, Ve...	ORPHA:1606
Pallister-Hall Syndrome	Atrioventricular canal defect, Precocious puberty, Gonadotropin deficiency, Short 4th metacarpal,...	ORPHA:672
Fryns Syndrome	Non-midline cleft lip, Polyhydramnios, Ventriculomegaly, Abnormal cardiac septum morphology, Ecto...	ORPHA:2059
22Q11.2 Deletion Syndrome	Meningocele, Hypothyroidism, Polyhydramnios, Hypoplasia of the thymus, Truncus arteriosus, Optic ...	ORPHA:567
Lateral Meningocele Syndrome	Meningocele, Micrognathia, Pectus excavatum, Short neck, Smooth philtrum, Coarse hair, Cleft pala...	OMIM:130720
Craniofaciofrontodigital Syndrome	Polyhydramnios, Finger joint hypermobility, Abnormal cerebral vascular morphology, Pericardial ef...	ORPHA:363705
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Ventriculomegaly, Optic disc pallor, Pectus excavatum, Short toe, Ventricular sep...	ORPHA:464311
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Premature thelarche, Nodular goiter, Osteolysis, Iris coloboma, Hirsutism, Papilledema, Abnormal ...	ORPHA:371428
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Hypothyroidism, Delayed closure of the anterior fontanelle, Short 5th fi...	OMIM:607872
Variant Abeta2M Amyloidosis	Intestinal perforation, Knee pain, Abnormal skeletal muscle morphology, Reduced left ventricular ...	ORPHA:314652
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Polyhydramnios, Ventriculomegaly, Butterfly vertebrae, Optic nerve hypoplasia, Abnormal left vent...	OMIM:301056
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, Micrognathia, Pulmonary hypoplasia, Pectus excavatum, Spina bifida occul...	ORPHA:2990
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Polyhydramnios, Micrognathia, Synophrys, Supernumerary nipple, Recurrent sinusitis, Pectus excava...	OMIM:213980
Pallister-Hall Syndrome	Precocious puberty, Short 4th metacarpal, Renal dysplasia, Decreased circulating cortisol level, ...	OMIM:146510
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Abnormal cranial nerve morphology, Ectopic anus, Spina bifida, Renal h...	ORPHA:2345
Dyrk1A-Related Intellectual Disability Syndrome	Ventriculomegaly, Multiple joint contractures, Optic disc pallor, Pectus excavatum, Acromesomelia...	ORPHA:464306
Holoprosencephaly	Spinal dysraphism, Optic atrophy, Anterior hypopituitarism, Synophrys, Median cleft lip, Iris col...	ORPHA:2162
Meckel Syndrome, Type 1	Camptodactyly of finger, Asplenia, Hypoplasia of the bladder, Ventriculomegaly, Abnormal cardiac ...	OMIM:249000
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Sacral dimple, Retrognathia, Absent thumb, Truncus arteriosus, Ventricu...	OMIM:617516
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Hypothyroidism, Ascending tubular aorta aneurysm, Coloboma, Abnorm...	ORPHA:453499
Recombinant Chromosome 8 Syndrome	Ventriculomegaly, Micrognathia, Camptodactyly, Pectus excavatum, Gingival overgrowth, Postnatal g...	OMIM:179613
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Ventricular septal defect, Long philtrum, Synophrys, Joint laxity, Atrial sep...	ORPHA:401935
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Coloboma, Synophrys, Pectus excavatum, Smooth philtrum, Patent foramen ovale, Ventricular septal ...	ORPHA:329224
Congenitally Uncorrected Transposition Of The Great Arteries	Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert...	ORPHA:860
Kleefstra Syndrome	Ventriculomegaly, Delayed eruption of teeth, Synophrys, Supernumerary nipple, Tracheomalacia, Eve...	ORPHA:261494
Mullegama-Klein-Martinez Syndrome	High anterior hairline, Long philtrum, Abnormal cardiac septum morphology, Short stature, Microgn...	OMIM:301022
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Ectopic anus, Micrognathia, Pectus excavatum, Elbow disloc...	ORPHA:1507
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Thyroid lymphangiectasia, Pericardial effusion, Mild postnatal growth ...	OMIM:235510
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Camptodactyly, Pectus excavatum, Smooth philtrum, Aortic root aneu...	OMIM:617602
Pseudotrisomy 13 Syndrome	Holoprosencephaly, Cyclopia, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Dext...	OMIM:264480
Williams-Beuren Syndrome	Hypothyroidism, Flexion contracture, Coronary artery stenosis, Colonic diverticula, Medial flarin...	OMIM:194050
Koolen-De Vries Syndrome Due To A Point Mutation	Hypothyroidism, Precocious puberty, Ventriculomegaly, Optic atrophy, Pineal cyst, Fair hair, Prim...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypothyroidism, Precocious puberty, Ventriculomegaly, Optic atrophy, Pineal cyst, Fair hair, Prim...	ORPHA:363958
Opitz Gbbb Syndrome	Ventriculomegaly, Ectopic anus, Recurrent aspiration pneumonia, Micrognathia, Thyroglossal cyst, ...	ORPHA:2745
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectop...	OMIM:300707
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Scimitar Syndrome	Pneumothorax, Truncus arteriosus, Hypoplasia of the diaphragm, Pulmonary hypoplasia, Heart block,...	ORPHA:185
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Flexion contracture, Vertebral hypoplasia, Abnormal cardiac septum morphology, Micrognathia, Epip...	OMIM:308050
Congenital Alveolar Capillary Dysplasia	Atrioventricular canal defect, Asplenia, Ventricular septal defect, Abnormal vertebral morphology...	ORPHA:210122
Meacham Syndrome	Pulmonary hypoplasia, Aplasia of the left hemidiaphragm, Ventricular septal defect, Enlarged kidn...	OMIM:608978
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Polyhydramnios, Short thorax, Encephalocele, Ventriculomegaly, Kyphosis...	ORPHA:93274
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Patent ductus arteriosus, Double outlet right ventricle, Vertebral fusion, Sacral dimple, Short t...	OMIM:618845
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Synophrys, Pectus excavatum, Spina bifida occulta, Everted lower lip vermilion, Delayed skeletal ...	OMIM:617877
Biliary, Renal, Neurologic, And Skeletal Syndrome	Atrioventricular canal defect, Biliary cirrhosis, Polyhydramnios, Unbalanced atrioventricular can...	OMIM:619534
Chops Syndrome	Optic atrophy, Synophrys, Coarse hair, Thick eyebrow, Splenomegaly, Thick hair, Patent foramen ov...	OMIM:616368
Brachytelephalangic Chondrodysplasia Punctata	Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ...	ORPHA:79345
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Synophrys, Pulmonary hypoplasia, Pectus excavatum, Smooth philtrum, Double outlet right ventricle...	OMIM:618316
Bannayan-Riley-Ruvalcaba Syndrome	Subcutaneous hemorrhage, Abnormal large intestine morphology, Micrognathia, Angina pectoris, Pect...	ORPHA:109
Rubinstein-Taybi Syndrome 1	Delayed cranial suture closure, Polyhydramnios, Premature thelarche, Flexion contracture, Colobom...	OMIM:180849
Treacher-Collins Syndrome	Hypoplasia of the thymus, Micrognathia, Thyroid hypoplasia, Iris coloboma, Tooth agenesis, Abnorm...	ORPHA:861
Koolen-De Vries Syndrome	Ventriculomegaly, Fair hair, Hip dislocation, Pectus excavatum, Everted lower lip vermilion, Clef...	OMIM:610443
Spondylocostal Dysostosis 4, Autosomal Recessive	Aplasia of posterior communicating artery, Ectopic anus, Pectus excavatum, Vertebral artery hypop...	OMIM:613686
Lowry-Maclean Syndrome	Atrioventricular canal defect, Abnormality of the abdominal organs, Micrognathia, Cleft palate, W...	ORPHA:2409
15Q24 Microdeletion Syndrome	Coloboma, Broad eyebrow, Smooth philtrum, Intestinal atresia, Postnatal growth retardation, High ...	ORPHA:94065
Fanconi Anemia, Complementation Group F	Polyhydramnios, Absent thumb, Bone marrow hypocellularity, Thrombocytopenia, Pneumonia, Sacral di...	OMIM:603467
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent ductus arteriosus, Patent foramen ovale, Tracheobronchomalacia, Short 5th finger, Ventricu...	ORPHA:500159
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Alopecia, Encephalocele, Absent toe, Arte...	ORPHA:974
Holoprosencephaly-Postaxial Polydactyly Syndrome	Polyhydramnios, Abnormal cardiac septum morphology, Micrognathia, Thyroid hypoplasia, Holoprosenc...	ORPHA:2166
Cat Eye Syndrome	Micrognathia, Iris coloboma, Cleft palate, Rectal fistula, Vesicoureteral reflux, Ventricular sep...	OMIM:115470
Familial Multiple Nevi Flammei	Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ed...	ORPHA:624
Partial Atrioventricular Septal Defect	Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven...	ORPHA:1330
Hardikar Syndrome	Hypoplasia of the bladder, Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac dis...	OMIM:301068
Charge Syndrome	Hypothyroidism, Polyhydramnios, Gonadotropin deficiency, Coloboma, Micrognathia, Secundum atrial ...	OMIM:214800
Primary Ciliary Dyskinesia	Asplenia, Ventriculomegaly, Bronchiectasis, Abnormal inferior vena cava morphology, Double outlet...	ORPHA:244
Short-Rib Thoracic Dysplasia 12	Horizontal ribs, Polyhydramnios, Thoracic dysplasia, Pulmonary hypoplasia, Median cleft lip, Holo...	OMIM:269860
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus, Abnormality of the philtrum, Camptodactyly of finger, High palate, Mids...	ORPHA:2863
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Shoulder dislocation, Micrognathia, Microdontia, Elbow flexion contracture, Hip dislocation, Disl...	OMIM:245600
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Enlarged tho...	ORPHA:251071
Hadziselimovic Syndrome	Ventricular hypertrophy, High palate, Ventricular septal defect, Short stature, Thick lower lip v...	OMIM:612946
Genitopalatocardiac Syndrome	Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Micrognathia, Renal cy...	OMIM:231060
Triploidy	Meningocele, Non-midline cleft lip, Polyhydramnios, Abnormal cardiac septum morphology, Micrognat...	ORPHA:3376
Encephalocraniocutaneous Lipomatosis	Subvalvular aortic stenosis, Alopecia, Ventricular septal defect, Agenesis of corpus callosum, Hy...	OMIM:613001
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Exaggerated median tongue furrow, Supernumerary nipple, Cervical ribs, Pectus exc...	OMIM:312870
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Abnormality of the ureter, Short neck, Abnormal intestine morphology, Abnormality o...	ORPHA:1834
Trisomy 1Q	Camptodactyly of finger, Polyhydramnios, Ventriculomegaly, Abnormal rib morphology, Cleft palate,...	ORPHA:261344
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hypothyroidism, Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Supernumer...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hypothyroidism, Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Supernumer...	ORPHA:352665
Skraban-Deardorff Syndrome	Thick upper lip vermilion, Sparse lateral eyebrow, Ventricular septal defect, Ventriculomegaly, W...	OMIM:617616
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Dilated fourth ventricle, Tracheobronchomalacia, Ventricular septal def...	OMIM:617751
Contractural Arachnodactyly, Congenital	Wrist flexion contracture, Patellar dislocation, Patellar subluxation, Micrognathia, Elbow flexio...	OMIM:121050
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventriculomegaly, Micrognathia, Supernumerary nipple, Smooth philtrum, Cleft palate, Optic disc c...	OMIM:618454
Mosaic Trisomy 1	Camptodactyly of finger, Polyhydramnios, Renal cortical cysts, Lateral ventricle dilatation, Elbo...	ORPHA:1692
Iniencephaly	Polyhydramnios, Spinal dysraphism, Mandibular aplasia, Holoprosencephaly, Arthrogryposis multiple...	ORPHA:63259
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Hypothyroidism, Anemia, Long philtrum, Perimembranous ventricular septa...	OMIM:608104
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Thick upper lip vermilion, Ventriculomegaly, Camptodactyly, Smooth philtrum, Thin lower lip vermi...	ORPHA:363444
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Flexion contracture, Lateral ventricle dilatation, Micrognathia, Elbow flexion contracture, Hip d...	OMIM:210710
Johnson Neuroectodermal Syndrome	Patent ductus arteriosus, Retrognathia, Alopecia, Ventricular septal defect, Short stature, Decre...	OMIM:147770
Loeys-Dietz Syndrome 4	Aortic tortuosity, Ascending tubular aorta aneurysm, Pneumothorax, Bifid uvula, Broad uvula, Aort...	OMIM:614816
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, Polyhydramnios, Bifid tongue, Ventriculomegaly, Optic atrophy, Mic...	ORPHA:818
Desmosterolosis	Ventriculomegaly, Micrognathia, Increased bone mineral density, Bifid uvula, Cleft palate, Osteop...	ORPHA:35107
Zttk Syndrome	Flexion contracture, Ventriculomegaly, Optic atrophy, Broad eyebrow, Bifid uvula, Unilateral lung...	OMIM:617140
Robinow Syndrome	Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Mes...	ORPHA:97360
Kabuki Syndrome	Vertebral clefting, Precocious puberty, Lip pit, Ventriculomegaly, Abnormal cardiac septum morpho...	ORPHA:2322
Distal Monosomy 13Q	Aplasia/Hypoplasia of the thumb, Encephalocele, Abnormal cardiac septum morphology, Optic atrophy...	ORPHA:1590
Basal Cell Nevus Syndrome 1	Short 4th metacarpal, Cardiac rhabdomyoma, Short distal phalanx of the thumb, Iris coloboma, Ovar...	OMIM:109400
Aicardi Syndrome	Dilated third ventricle, Precocious puberty, Lateral ventricle dilatation, Optic atrophy, Butterf...	OMIM:304050
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Short lingual frenulum, Micrognathia, Abnormal optic disc morphology, Tracheoma...	ORPHA:96121
Charge Syndrome	Polyhydramnios, Aortic arch aneurysm, Abnormal cardiac septum morphology, Optic atrophy, Anterior...	ORPHA:138
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Delayed cranial suture closure, Patent foramen ovale, Vesicoureteral reflux, High palate, Heart m...	OMIM:618653
Hajdu-Cheney Syndrome	Abnormal mandible morphology, Patellar dislocation, Micrognathia, Synophrys, Osteolysis, Iris col...	ORPHA:955
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Double outlet right ventricle, Patent for...	ORPHA:477817
Klippel-Trénaunay Syndrome	Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Cellulitis, Hematuria, Abnormality...	ORPHA:90308
Down Syndrome	Atrioventricular canal defect, Hypothyroidism, Pulmonary artery stenosis, Myeloproliferative diso...	OMIM:190685
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Midline liver, Ventricular septal defect, Common atrium, Transposi...	OMIM:613751
Mowat-Wilson Syndrome	Asplenia, Flexion contracture, Ventriculomegaly, Abnormal cardiac septum morphology, Delayed erup...	ORPHA:2152
Baraitser-Winter Syndrome 1	Patent ductus arteriosus, Retrognathia, Cleft upper lip, Ventriculomegaly, Short stature, Long ph...	OMIM:243310
Cardioacrofacial Dysplasia 2	Conical tooth, Atrioventricular canal defect, Genu valgum, Mandibular prognathia, Deep philtrum, ...	OMIM:619143
Intellectual Disability-Strabismus Syndrome	Hypothyroidism, Polyhydramnios, Micrognathia, Synophrys, Short neck, Atrial septal defect, Recurr...	ORPHA:363528
Vacterl/Vater Association	Non-midline cleft lip, Polyhydramnios, Abnormal cardiac septum morphology, Abnormal rib morpholog...	ORPHA:887
Sotos Syndrome	Ventriculomegaly, High anterior hairline, Genu valgum, Narrow palate, Ventricular septal defect, ...	OMIM:117550
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flexion contracture, Ventriculomegaly, Optic atrophy, Synophrys, Camptodactyly, Smooth philtrum, ...	ORPHA:487796
Femoral-Facial Syndrome	Ventriculomegaly, Micrognathia, Long penis, Short femur, Abnormal rib morphology, Cleft palate, O...	ORPHA:1988
Right Atrial Isomerism	Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr...	OMIM:208530
Ogden Syndrome	Thick upper lip vermilion, Torsade de pointes, Delayed cranial suture closure, Ventriculomegaly, ...	OMIM:300855
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Lateral ventricle dilatation, Micrognathia, Butterfly vertebrae, Campt...	OMIM:611209
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Flexion contracture, Lateral ventricle dilatation, Delayed eruption of teeth, Broad eye...	ORPHA:261537
Cantu Syndrome	Thick upper lip vermilion, Pericardial effusion, Short hallux, Short neck, Ovoid vertebral bodies...	OMIM:239850
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Flexion contracture, Lateral ventricle dilatation, Optic atrophy, Delayed eruption of t...	ORPHA:261552
Mucopolysaccharidosis Type 7	Anterior beaking of lumbar vertebrae, Enlarged thorax, Abnormal pleura morphology, Hydrops fetali...	ORPHA:584
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Ventriculomegaly, B...	ORPHA:284169
Heterotaxy, Visceral, 7, Autosomal	Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,...	OMIM:616749
Duane-Radial Ray Syndrome	Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Iris colob...	OMIM:607323
Aicardi Syndrome	Precocious puberty, Ventriculomegaly, Optic atrophy, Butterfly vertebrae, Hepatoblastoma, Cleft p...	ORPHA:50
Koolen-De Vries Syndrome	Hypothyroidism, Ventriculomegaly, Abnormal cardiac septum morphology, Microdontia, Hip dislocatio...	ORPHA:96169
Microform Holoprosencephaly	Hypothyroidism, Short stature, Renal agenesis, Hypoplasia of penis, Duodenal atresia, Panhypopitu...	ORPHA:280200
Fanconi Anemia, Complementation Group D2	Aplasia of the 1st metacarpal, Absent thumb, Bone marrow hypocellularity, Thrombocytopenia, Esoph...	OMIM:227646
Alg12-Cdg	Polyhydramnios, Ventriculomegaly, Micrognathia, Camptodactyly, Abnormal peripheral nervous system...	ORPHA:79324
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalo...	ORPHA:1908
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Gastroesophageal reflux, Polyhydramnios, High palate, Sparse eyebrow, Short...	OMIM:620070
Arterial Tortuosity Syndrome	Aortic tortuosity, Ventricular hypertrophy, Flexion contracture, Ischemic stroke, Micrognathia, B...	OMIM:208050
Sweeney-Cox Syndrome	Asplenia, Polyhydramnios, Micrognathia, Prominent metopic ridge, Patent foramen ovale, Narrow mou...	OMIM:617746
Distal Monosomy 10Q	Lateral ventricle dilatation, Micrognathia, Hip dislocation, Pectus excavatum, Spina bifida occul...	ORPHA:96148
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Camptodactyly of finger, Ventriculomegaly, Multiple joint contractures, Lobar holoprosencephaly, ...	ORPHA:468631
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Polyhydramnios, Delayed closure of the anterior fontanelle, Micrognat...	OMIM:300373
Spinal Arteriovenous Metameric Syndrome	Urinary bladder sphincter dysfunction, Arteriovenous malformation, Abnormality of the kidney, Con...	ORPHA:53721
Peters Plus Syndrome	Polyhydramnios, Ventriculomegaly, Abnormal cardiac septum morphology, Optic atrophy, Anterior hyp...	ORPHA:709
Fontaine Progeroid Syndrome	Pneumothorax, Recurrent aspiration pneumonia, Micrognathia, Microdontia, Reduced subcutaneous adi...	OMIM:612289
Distal 22Q11.2 Microdeletion Syndrome	Camptodactyly of finger, Truncus arteriosus, Smooth philtrum, Cleft palate, Short palm, Ventricul...	ORPHA:261330
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Patent ductus arteriosus, Double outlet right ventricle, Asplenia, Unbalanced atrioventricular ca...	OMIM:619657
Chromosome 6Pter-P24 Deletion Syndrome	Pectus excavatum, Short neck, Patent foramen ovale, Ventricular septal defect, Frontal upsweep of...	OMIM:612582
Focal Dermal Hypoplasia	Camptodactyly of finger, Abnormal cardiac septum morphology, Iris coloboma, Tooth agenesis, Abnor...	ORPHA:2092
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, 11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Hydroc...	ORPHA:77298
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Aortic aneurysm, Hydrocephalus, Congenital diaphragmatic hernia, Crypto...	ORPHA:261102
Cornelia De Lange Syndrome 1	Optic atrophy, Delayed eruption of teeth, Micrognathia, Elbow flexion contracture, Synophrys, Dis...	OMIM:122470
Smith-Lemli-Opitz Syndrome	Hip subluxation, Precocious puberty, Micrognathia, Bifid uvula, Hip dislocation, Epiphyseal stipp...	OMIM:270400
Double Outlet Right Ventricle	Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Short...	ORPHA:3426
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Asplenia, Ascending tubular aorta aneurysm, Abdominal situs ambigu...	OMIM:270100
Cardiospondylocarpofacial Syndrome	Delayed skeletal maturation, Patent foramen ovale, Vesicoureteral reflux, Fusion of middle ear os...	OMIM:157800
Miller-Dieker Lissencephaly Syndrome	Sacral dimple, Thick upper lip vermilion, Polyhydramnios, Joint contracture of the hand, Delayed ...	OMIM:247200
Pelizaeus-Merzbacher Disease	Optic atrophy, Kyphosis, Arteriovenous malformation, Short stature, Scoliosis, Abnormality of the...	ORPHA:702
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Genu varum, Mandibular prognathia, Arteriovenous malformation, Abnormal aortic arch morphology, D...	ORPHA:1110
Acrocardiofacial Syndrome	Camptodactyly of finger, Cleft upper lip, Joint dislocation, Hyperthyroidism, Ventricular septal ...	ORPHA:2008
Wolf-Hirschhorn Syndrome	Abnormal cardiac septum morphology, Optic atrophy, Abnormal thorax morphology, Micrognathia, Abno...	ORPHA:280
Pentalogy Of Cantrell	Non-midline cleft lip, Renal dysplasia, Pulmonary hypoplasia, Cleft palate, Orofacial cleft, Vent...	ORPHA:1335
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Delayed cranial suture closure, Thyroid hypoplasia, Optic nerve hypoplasia, Short neck, Pituitary...	ORPHA:226307
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Ventricular septal defect, Bifid thoracic vertebrae, Micrognathia, Hydrocephalus...	ORPHA:268249
Mosaic Variegated Aneuploidy Syndrome	Subvalvular aortic stenosis, Hypothyroidism, Polyhydramnios, Ventriculomegaly, Micrognathia, Acut...	ORPHA:1052
Meacham Syndrome	Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Ventricular septal defect,...	ORPHA:3097
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Ventriculomegaly, Recurrent aspiration pneumonia, Fair hair, Synophrys, Hypertrophy of the urinar...	ORPHA:280633
Chromosome 9P Deletion Syndrome	Fair hair, Micrognathia, Short neck, Narrow palate, Ventricular septal defect, Atrial septal defe...	OMIM:158170
Monosomy 18Q	Hypothyroidism, Secundum atrial septal defect, Left aortic arch with right descending aorta and r...	ORPHA:1600
Axial Spondylometaphyseal Dysplasia	Thoracic hypoplasia, Optic atrophy, Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth re...	ORPHA:168549
Cardiac Diverticulum	Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,...	ORPHA:1686
Heart Defects, Congenital, And Other Congenital Anomalies	Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Cervical ribs, Pulmonary artery sten...	OMIM:600001
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Atrioventricular canal defect, Urethral atresia, Polyhydramnios, Esophageal atresi...	OMIM:314390
Turner Syndrome Due To Structural X Chromosome Anomalies	Neck pterygia, Enlarged thorax, Aortic arch aneurysm, Biliary cirrhosis, Short 4th metacarpal, Mi...	ORPHA:99413
Mosaic Monosomy X	Neck pterygia, Enlarged thorax, Aortic arch aneurysm, Biliary cirrhosis, Short 4th metacarpal, Mi...	ORPHA:99228
Monosomy X	Neck pterygia, Enlarged thorax, Aortic arch aneurysm, Biliary cirrhosis, Short 4th metacarpal, Mi...	ORPHA:99226
Turner Syndrome	Neck pterygia, Enlarged thorax, Aortic arch aneurysm, Biliary cirrhosis, Short 4th metacarpal, Mi...	ORPHA:881
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pneumothorax, Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissect...	ORPHA:91387
Diabetic Embryopathy	Abnormal aortic morphology, Spinal dysraphism, Abnormality of the pancreas, Ventricular septal de...	ORPHA:1926
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, High palate, Ventriculomegaly, Perimembranous ventricular septal defect, Widel...	OMIM:618205
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Pulmonary...	OMIM:208540
Coffin-Siris Syndrome 3	Hirsutism, Delayed skeletal maturation, Cleft palate, Thick eyebrow, Macroglossia, Intrauterine g...	OMIM:614608
Microphthalmia, Syndromic 3	Vertebral hypoplasia, Coloboma, Butterfly vertebrae, Optic nerve hypoplasia, Postnatal growth ret...	OMIM:206900
Helsmoortel-Van Der Aa Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Pineal cyst, Microdontia, Pectus excavatum, Evert...	OMIM:615873
Hennekam Syndrome	Camptodactyly of finger, Delayed eruption of teeth, Pericardial effusion, Mild postnatal growth r...	ORPHA:2136
Distal Monosomy 7Q36	Non-midline cleft lip, Hernia, Optic atrophy, Short stature, Wide mouth, Micrognathia, Hypoplasia...	ORPHA:1636
Zaki Syndrome	Patent ductus arteriosus, Patent foramen ovale, Sacral dimple, Dilated fourth ventricle, High pal...	OMIM:619648
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Hip subluxation, Muscle fiber atrophy, Patellar dislocation, Elbow flexion contracture, Hip dislo...	ORPHA:1900
Fryns Syndrome	Polyhydramnios, Thoracic hypoplasia, Camptodactyly, Pulmonary hypoplasia, Short neck, Cleft palat...	OMIM:229850
Classical Ehlers-Danlos Syndrome	Shoulder dislocation, Patellar dislocation, Pulp calcification, Incisional hernia, Hip dislocatio...	ORPHA:287
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Gastroesophageal reflux, Cleft upper lip, High anterior hairline, Achalasia, Ventricular septal d...	OMIM:600987
Distal Monosomy 15Q	Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Pulmonary hypopl...	ORPHA:1596
2Q37 Microdeletion Syndrome	Nephroblastoma, Sparse eyebrow, Abnormal aortic morphology, Multicystic kidney dysplasia, Sparse ...	ORPHA:1001
Kyphoscoliotic Ehlers-Danlos Syndrome	Antenatal intracerebral hemorrhage, Shoulder dislocation, Micrognathia, Synophrys, Hip dislocatio...	ORPHA:536545
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Atrioventricular canal defect, Hypothyroidism, Polyhydramnios, Micrognat...	ORPHA:3047
Chromosome 1Q41-Q42 Deletion Syndrome	Ventriculomegaly, Supernumerary nipple, Pulmonary hypoplasia, Pectus excavatum, Holoprosencephaly...	OMIM:612530
Schuurs-Hoeijmakers Syndrome	Patent ductus arteriosus, Patent foramen ovale, Abnormal cardiac septum morphology, Wide mouth, V...	OMIM:615009
White-Sutton Syndrome	Micrognathia, Bifid uvula, Optic nerve hypoplasia, Iris coloboma, Short neck, Hypoplastic cervica...	OMIM:616364
Microgastria-Limb Reduction Defect Syndrome	Truncus arteriosus, Renal dysplasia, Elbow dislocation, Phocomelia, Hepatomegaly, Absent hand, Mu...	ORPHA:2538
Parkes Weber Syndrome	Abnormality of the urinary system, Subarachnoid hemorrhage, Muscle hypertrophy of the lower extre...	ORPHA:90307
Chromosome 3Pter-P25 Deletion Syndrome	Sacral dimple, Atrioventricular canal defect, Gastroesophageal reflux, Retrognathia, High palate,...	OMIM:613792
Classic Homocystinuria	Optic atrophy, Subcutaneous hemorrhage, Pectus excavatum, Hepatomegaly, Pulmonary embolism, Genu ...	ORPHA:394
Feingold Syndrome 1	Asplenia, Polyhydramnios, Micrognathia, Everted lower lip vermilion, Short toe, Ventricular septa...	OMIM:164280
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Delayed skeletal maturation, Cleft palate, Double outlet right ventricle,...	ORPHA:2326
Even-Plus Syndrome	Vertebral clefting, Patent foramen ovale, Vesicoureteral reflux, High palate, Recurrent urinary t...	OMIM:616854
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Flexion contracture, Ventriculomegaly, Micrognathia, Everted lower lip vermilion, Smooth philtrum...	OMIM:619720
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Delayed eruption of teeth, Micrognathia, Camptodactyly, Pulmonary hypoplasia...	OMIM:619148
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Multicystic kidney dysplasia, Ventriculomegaly, Micrognathia, Pyloric st...	ORPHA:261197
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Delayed closure of the anterior fontanelle, Short 5th finger, Micrognathia, Microdontia, Synophry...	OMIM:610759
Coffin-Siris Syndrome 1	Conical tooth, Delayed eruption of teeth, Microdontia, Spina bifida occulta, Dislocated radial he...	OMIM:135900
Cerebrofaciothoracic Dysplasia	Polyhydramnios, Ventriculomegaly, Synophrys, Short neck, Abnormal hair pattern, Coarse hair, Clef...	ORPHA:1394
Cutis Marmorata Telangiectatica Congenita	Patent ductus arteriosus, Hypothyroidism, Multicystic kidney dysplasia, Subcutaneous hemorrhage, ...	ORPHA:1556
Distal Tetrasomy 15Q	Flexion contracture, Micrognathia, Camptodactyly, Pulmonary hypoplasia, Nephroblastoma, Polycysti...	ORPHA:314588
Oculoectodermal Syndrome	Patent ductus arteriosus, Lymphedema, Transient ischemic attack, Pineal cyst, Giant cell granulom...	OMIM:600268
Renpenning Syndrome	Pectus excavatum, Iris coloboma, Abnormal rib morphology, Cleft palate, Alopecia, Narrow mouth, S...	ORPHA:3242
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Cervical ribs, Hypoplasia of right ventricle, Pulmonary artery steno...	ORPHA:2255
Ciliary Dyskinesia, Primary, 40	Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri...	OMIM:618300
Structural Heart Defects And Renal Anomalies Syndrome	Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, At...	OMIM:617478
Aortic Aneurysm, Familial Thoracic 12	Aortic root aneurysm, Ascending tubular aorta aneurysm, High palate, Bicuspid aortic valve, Arthr...	OMIM:619825
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Arteriovenous malformation, Congestive heart failure, Venous insufficiency, ...	ORPHA:137608
Multiple Pterygium Syndrome, Escobar Variant	Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b...	OMIM:265000
Kabuki Syndrome 1	Premature thelarche, Short 5th finger, Lateral ventricle dilatation, Recurrent aspiration pneumon...	OMIM:147920
Trisomy 13	Optic atrophy, Median cleft lip, Abnormality of the ureter, Iris coloboma, Abnormal eyelash morph...	ORPHA:3378
Pseudoaminopterin Syndrome	Hip subluxation, Asplenia, Short 4th metacarpal, Micrognathia, Microdontia, Pectus excavatum, Sac...	ORPHA:221120
Cutis Laxa, Autosomal Recessive, Type Ic	Hypoplasia of the thymus, Morgagni diaphragmatic hernia, Micrognathia, Pulmonary hypoplasia, Peri...	OMIM:613177
Diamond-Blackfan Anemia 1	Delayed cranial suture closure, Absent thumb, Micrognathia, Hypoplastic sacral vertebrae, Short n...	OMIM:105650
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Ventricular septal defect, Kyphosis, Vascular ring, Ventriculomegaly, H...	OMIM:603387
Caudal Regression Syndrome	Vesicoureteral reflux, Decreased muscle mass, Arrhinencephaly, Renal agenesis, Missing ribs, Hype...	ORPHA:3027
Sandestig-Stefanova Syndrome	Retrognathia, High palate, Ventriculomegaly, Perimembranous ventricular septal defect, Camptodact...	OMIM:618804
Arnold-Chiari Malformation Type I	Urinary incontinence, Stiff neck, Abnormality of the eleventh cranial nerve, Cranial nerve compre...	ORPHA:268882
Jacobsen Syndrome	Ventriculomegaly, Abnormality of the anus, Ectopic anus, Hip dislocation, Iris coloboma, Short ne...	ORPHA:2308
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Hydranencephaly, Short ...	OMIM:601355
Cerebrocostomandibular Syndrome	Polyhydramnios, Thoracic hypoplasia, Cleft soft palate, Micrognathia, Elbow flexion contracture, ...	OMIM:117650
Trisomy 18	Camptodactyly of finger, Non-midline cleft lip, Iris coloboma, Holoprosencephaly, Delayed skeleta...	ORPHA:3380
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Patent ductus arteriosus, Retrognathia, Crossed fused renal ectopia, Ventricular septal defect, H...	OMIM:618142
Chromosome 1P36 Deletion Syndrome, Proximal	Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ...	OMIM:619343
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Micrognathia, Hip dislocation, Pectus excavatum, Dislocated radi...	OMIM:609945
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Postnatal growth retardation, Ventricular septal defect, Reduced alpha/beta synthesis ratio, Macr...	OMIM:301040
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Ascending tubular aorta aneurysm, Micrognathia, Bifid uvula, Camptodactyly,...	OMIM:610168
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Vertebral clefting, Ventriculomegaly, Synophrys, Lobar holoprosencephaly, Smooth philtrum, Cleft ...	OMIM:614701
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Short stature, Esophageal atresia, Fused cervical vertebrae, Renal agenesis, Butter...	OMIM:619227
Carpenter Syndrome 1	Precocious puberty, Lateral displacement of patellae, Optic atrophy, Micrognathia, Camptodactyly,...	OMIM:201000
Jacobsen Syndrome	Flexion contracture, Optic atrophy, Micrognathia, Pectus excavatum, Iris coloboma, Short neck, Ho...	OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Flexion contracture, Encephalocele, Optic atrophy, Calf muscle hypertrophy, Spinal rigidity, Cong...	OMIM:253800
Heterotaxy, Visceral, 6, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ...	OMIM:614779
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Camptodactyly of finger, Enlarged thorax, Abnormal pleura morphology, Multiple joint contractures...	ORPHA:2570
Gm1-Gangliosidosis, Type I	Thickened ribs, Hypoplastic vertebral bodies, Hypertrophic cardiomyopathy, Short neck, Hepatomega...	OMIM:230500
Thakker-Donnai Syndrome	Ventricular septal defect, Rectovaginal fistula, Communicating hydrocephalus, Anal atresia, Trach...	ORPHA:1780
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent thumb, Patent ductus arteriosus after birth at term, Ischemic stroke, Lateral ventricle di...	ORPHA:500150
Digeorge Syndrome	Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Patellar dislocation, Renal dysplas...	OMIM:188400
Chromosome 15Q25 Deletion Syndrome	Dilatation of renal calices, Cleft upper lip, Ventricular septal defect, Abnormal cardiac septum ...	OMIM:614294
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Cerebral ischemia, Optic atrophy, Arteriovenous malformation, Wide mouth, Hydro...	ORPHA:60040
Loeys-Dietz Syndrome 3	Aortic tortuosity, Ventricular hypertrophy, Pneumothorax, Hip osteoarthritis, Osteochondritis dis...	OMIM:613795
Ring Chromosome 21 Syndrome	Diabetes insipidus, Small hand, Short stature, Thoracic hemivertebrae, Abnormal thorax morphology...	ORPHA:1445
Pagod Syndrome	Meningocele, Sudden cardiac death, Optic atrophy, Abnormal testis morphology, Abnormality of the ...	ORPHA:991
Megabladder, Congenital	Patent ductus arteriosus, Ventricular septal defect, Stage 5 chronic kidney disease, Bicuspid aor...	OMIM:618719
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, ...	ORPHA:261183
Cooper-Jabs Syndrome	Camptodactyly of finger, Ventricular septal defect, Short stature, Missing ribs, Anteriorly place...	ORPHA:1488
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Short 5th metacarpal, Pseudocoarctation of the a...	ORPHA:228190
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Precocious puberty, Anterior hypopituitarism, Abnormal vertebral morphol...	ORPHA:280195
49,Xxxxy Syndrome	Renal dysplasia, Delayed eruption of teeth, Taurodontia, Hip dislocation, Elbow dislocation, Holo...	ORPHA:96264
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Conotruncal defect, Bicuspid aortic valve, Mic...	ORPHA:2306
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Coloboma, Patellar dislocation, Delayed skeletal maturation, Abnormality of the urinary system, P...	ORPHA:353281
Ehlers-Danlos Syndrome, Classic-Like, 2	Shoulder dislocation, Micrognathia, Hip dislocation, Short neck, Knee dislocation, Aortic root an...	OMIM:618000
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Double outlet right ventricle, Talipes valgus, High palate, Ventricular sep...	OMIM:616652
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Dysphagia, Cleft palate, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, C...	OMIM:618494
Congenital Heart Defects, Multiple Types, 2	Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec...	OMIM:614980
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypothyroidism, Short 4th metacarpal, Micrognathia, Pectus excavatum, Increased circulating gonad...	ORPHA:1772
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, P...	OMIM:604381
Rabson-Mendenhall Syndrome	Hypothyroidism, Precocious puberty, Premature graying of hair, Reduced subcutaneous adipose tissu...	ORPHA:769
Acrofacial Dysostosis 1, Nager Type	Absent thumb, Micrognathia, Hip dislocation, Limited elbow extension, Cleft palate, Short toe, Ve...	OMIM:154400
Distal Monosomy 12Q	Micrognathia, Elbow flexion contracture, Median cleft lip, Unilateral cryptorchidism, Short neck,...	ORPHA:96149
Noonan Syndrome 12	11 pairs of ribs, Polyhydramnios, Decreased response to growth hormone stimulation test, Ventricu...	OMIM:618624
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Absent thumb, Patellar dislocation, Micrognathia, Hip dislocation,...	OMIM:274000
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Polyhydramnios, Supernumerary nipple, Pectus excavatum, Hepatoblastoma, ...	ORPHA:373
Okamoto Syndrome	Exaggerated median tongue furrow, Extension of hair growth on temples to lateral eyebrow, Cleft p...	ORPHA:2729
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Synophrys, Camptodactyly, Hirsutism, Smooth philtrum, Cleft palate, Ventricular septal defect, Se...	OMIM:301044
Ellis-Van Creveld Syndrome	Horizontal ribs, Cleft upper lip, Genu valgum, Natal tooth, Short ribs, Delayed eruption of teeth...	OMIM:225500
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Coloboma, Short stature, Bicuspid aortic valve, Anal atresia, Hirsutism, Horseshoe...	OMIM:619318
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Pineal cyst, Left ventricular noncompaction, Submucous cleft soft palate, Synostosis of the proxi...	OMIM:300967
Recombinant 8 Syndrome	Camptodactyly of finger, Abnormality of the anus, Micrognathia, Abnormal oral frenulum morphology...	ORPHA:96167
Al Amyloidosis	Abnormal autonomic nervous system physiology, Hypertrophic cardiomyopathy, Peripheral edema, Hepa...	ORPHA:85443
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus, Short stature, Thin upper lip vermilion, Smooth philtrum, Cleft palate, Malar...	OMIM:611867
Lessel-Kreienkamp Syndrome	Patent ductus arteriosus, Patent foramen ovale, Gastroesophageal reflux, Dental malocclusion, Bic...	OMIM:619149
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polyhydramnios, Coloboma, Patellar dislocation, Micrognathia, Abnormal subclavian artery morpholo...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polyhydramnios, Coloboma, Patellar dislocation, Micrognathia, Abnormal subclavian artery morpholo...	ORPHA:353277
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Bronchiectasis, Situs inversus totalis, Dextrocardia, Right aortic arch, Goiter	OMIM:617577
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Abnormal thorax morphology, Communicating hydrocephalus, Hernia of the ...	ORPHA:2184
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Patent ductus arteriosus, Double outlet right ventricle, High palate, Micrognathia, Frontal hirsu...	ORPHA:3304
Robinow Syndrome, Autosomal Recessive 1	Delayed cranial suture closure, Bifid tongue, Micrognathia, Pectus excavatum, Dislocated radial h...	OMIM:268310
Mirage Syndrome	Achalasia, Adrenal insufficiency, Thrombocytopenia, Aspiration pneumonia, Hydrocephalus, Hypergon...	OMIM:617053
Chilton-Okur-Chung Neurodevelopmental Syndrome	Polyhydramnios, Micrognathia, Synophrys, Pectus excavatum, Smooth philtrum, Sparse hair, Patent f...	OMIM:619841
Congenital Hypothyroidism	Hypotension, Hypothyroidism, Optic atrophy, Anterior hypopituitarism, Intestinal obstruction, Abn...	ORPHA:442
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Pericardial effusion, Patent urachus, Pulmonary hypoplasia, Biventricular...	OMIM:618280
Viss Syndrome	Aortic tortuosity, Hypothyroidism, Polyhydramnios, Ascending tubular aorta aneurysm, Bifid tongue...	OMIM:619472
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Retrognathia, Dilated third ventricle, Polyhydramnios, Alopecia, Sparse scalp hair...	ORPHA:544488
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, High anterior hairline, Mandibular prognathia, High palate, Small hand, Short sta...	ORPHA:284180
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Abnormal...	OMIM:615415
Syndromic Diarrhea	Hypothyroidism, Hypoplasia of the thymus, Hepatoblastoma, Gastritis, Peripheral pulmonary artery ...	ORPHA:84064
Trichorhinophalangeal Syndrome, Type Ii	Hip subluxation, Micrognathia, Mild postnatal growth retardation, Pectus excavatum, Scapular wing...	OMIM:150230
Wolf-Hirschhorn Syndrome	Precocious puberty, Ventriculomegaly, Micrognathia, Hip dislocation, Biliary tract abnormality, I...	OMIM:194190
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Ventriculomegaly, Renal dysplasia, Bifid uvula, Hip dislocation, Smooth philtrum, Cleft palate, S...	OMIM:300968
Poland Syndrome	Unilateral oligodactyly, Short ribs, Unilateral hypoplasia of pectoralis major muscle, Absence of...	OMIM:173800
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Vertebrobasilar dolichoectasia, Mandibular prognathia, Abnormality of the kidney, Short philtrum,...	ORPHA:521445
Tonne-Kalscheuer Syndrome	Short stature, Widely spaced teeth, Decreased testicular size, Micrognathia, Velopharyngeal insuf...	OMIM:300978
Blue Rubber Bleb Nevus	Arteriovenous malformation, Volvulus, Intestinal bleeding, Prolonged bleeding time, Gastrointesti...	ORPHA:1059
Frontometaphyseal Dysplasia 2	Bifid uvula, Camptodactyly, Elbow contracture, Pectus excavatum, Dislocated radial head, Hirsutis...	OMIM:617137
Sifrim-Hitz-Weiss Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Ventriculomegaly, Sho...	OMIM:617159
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Left ventricular outflow tract obstruction, Hypoplastic pulmonary ...	OMIM:613854
Extracranial Carotid Artery Aneurysm	Abnormality of connective tissue, Cerebral ischemia, Atherosclerosis, Arterial fibromuscular dysp...	ORPHA:494424
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Polyhydramnios, Flexion contracture, Frontotemporal hypertrichosis, Wide anterior f...	OMIM:263210
Distal Trisomy 15Q	Camptodactyly of finger, High palate, Long philtrum, Micrognathia, Anal atresia, Joint stiffness,...	ORPHA:1707
Monosomy 18P	Hypothyroidism, Enlarged thorax, Alopecia, Short stature, Lymphedema, Micrognathia, Hypodontia, S...	ORPHA:1598
17Q24.2 Microdeletion Syndrome	Vesicoureteral reflux, Patent ductus arteriosus after birth at term, Otosclerosis, Decreased resp...	ORPHA:529962
Halperin-Birk Syndrome	Gastroesophageal reflux, Flexion contracture, High palate, Ventriculomegaly, Optic atrophy, Perim...	OMIM:618651
Adams-Oliver Syndrome 6	Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Esophageal va...	OMIM:616589
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Micrognathia, Smooth philtrum, Optic disc coloboma, Tricuspid regurgitat...	ORPHA:261337
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short 5th finger, Urethral stricture, Dysphagia, Ventricular septal defect, Atrial septal defect,...	OMIM:619522
Pericardial And Diaphragmatic Defect	Patent ductus arteriosus, Morphological abnormality of the gastrointestinal tract, Abnormal stern...	ORPHA:2847
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Ascending tubular aorta aneurysm, Truncus arteriosus, Micrognathia, Microdontia, Bifid uvula, Cam...	OMIM:612474
Proteus Syndrome	Sudden cardiac death, Hip dislocation, Abnormality of the wrist, Long penis, Sirenomelia, Tooth a...	ORPHA:744
Feingold Syndrome Type 1	Renal dysplasia, Short middle phalanx of the 2nd finger, Micrognathia, Multiple muscular ventricu...	ORPHA:391641
Jansen-De Vries Syndrome	Hyperlordosis, Gastroesophageal reflux, Central diaphragmatic hernia, Ventricular septal defect, ...	OMIM:617450
Atrial Septal Defect, Sinus Venosus Type	Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ...	ORPHA:99105
Currarino Syndrome	Vesicoureteral reflux, Arteriovenous malformation, Hypoplasia of penis, Hypospadias, Abnormal int...	ORPHA:1552
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed cranial suture closure, Macroorchidism, Increased circulating prolactin concentration, In...	ORPHA:90674
Loeys-Dietz Syndrome 1	Micrognathia, Bifid uvula, Camptodactyly, Ascending aortic dissection, Bicuspid pulmonary valve, ...	OMIM:609192
Rapidly Involuting Congenital Hemangioma	Avascular necrosis, Congestive heart failure, Prominent superficial veins, Hepatic hemangioma, Pe...	ORPHA:141184
Craniofrontonasal Dysplasia	Camptodactyly of finger, High palate, Widow's peak, Down-sloping shoulders, Congenital pseudoarth...	ORPHA:1520
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Multicystic kidney dysplasia, Optic atrophy, Septo-optic dysplasia, Aplasia/Hypop...	ORPHA:3301
Czeizel-Losonci Syndrome	Thoracolumbar scoliosis, Ureteral agenesis, Myelomeningocele, Congenital megaureter, High palate,...	ORPHA:2437
Oeis Complex	Vesicovaginal fistula, Hydrocephalus, Congenital hip dislocation, Pelvic kidney, Cryptorchidism, ...	OMIM:258040
Fixed Subaortic Stenosis	Atrioventricular canal defect, Systolic heart murmur, Ascending tubular aorta aneurysm, Left vent...	ORPHA:3092
Congenital Disorder Of Glycosylation, Type Iie	Micrognathia, Secundum atrial septal defect, Short neck, Hepatomegaly, Smooth philtrum, Splenomeg...	OMIM:608779
Cenani-Lenz Syndactyly Syndrome	Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Hypodontia, Renal agenesis, Radioulnar...	OMIM:212780
Catel-Manzke Syndrome	Camptodactyly of finger, Ventriculomegaly, Ventricular septal defect, Short stature, Micrognathia...	ORPHA:1388
Foix-Alajouanine Syndrome	Urinary incontinence, Back pain, Urinary retention, Neurogenic bladder, Lower limb muscle weaknes...	ORPHA:79093
Truncus Arteriosus	Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Tachycardia, Aplasia/hypoplas...	ORPHA:3384
Vascular Ehlers-Danlos Syndrome	Gingivitis, Ascending tubular aorta aneurysm, Pneumothorax, Microdontia, Abnormal oral frenulum m...	ORPHA:286
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Gastroesophageal reflux, Genu valgum, Mandibular prognathia, Long philtrum, Short stature, Thorac...	OMIM:619721
Hypothyroidism Due To Tsh Receptor Mutations	Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati...	ORPHA:90673
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect, Ventriculomegaly, Cystic renal dysplasia, Ectopic kidn...	OMIM:613730
Fetal Encasement Syndrome	Bilateral trilobed lung, Upper limb undergrowth, Lower limb undergrowth, Congenital diaphragmatic...	OMIM:613630
Velocardiofacial Syndrome	Retrognathia, Pierre-Robin sequence, Ventricular septal defect, Short stature, Interrupted aortic...	OMIM:192430
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, High palate, Ventricular septal defect, Lateral ventricle dilatation, Wide ...	ORPHA:457279
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A...	ORPHA:1797
Monosomy 13Q34	Horizontal eyebrow, Pulmonic stenosis, Micrognathia, Epistaxis, Hepatic steatosis, Prolonged prot...	ORPHA:96168
Marfan Syndrome	Ascending tubular aorta aneurysm, Flexion contracture, Pneumothorax, Micrognathia, Reduced subcut...	OMIM:154700
Opitz-Kaveggia Syndrome	Delayed closure of the anterior fontanelle, Multiple joint contractures, Micrognathia, Camptodact...	OMIM:305450
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Vesicoureteral reflux, Left unicoronal synostosis, Ventriculomegaly, Aganglionic megacolon, Short...	OMIM:614749
Mosaic Trisomy 16	Abnormal thorax morphology, Pulmonary hypoplasia, Ventricular septal defect, Atrial septal defect...	ORPHA:1708
Fibrochondrogenesis 1	Thoracic hypoplasia, Camptodactyly, Short neck, Cleft palate, Widely patent coronal suture, Short...	OMIM:228520
Genitopalatocardiac Syndrome	Non-midline cleft lip, Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Kyphosis...	ORPHA:2075
Dural Sinus Malformation	Cerebellar hemorrhage, Cerebral edema, Vascular dilatation, Cerebral hemorrhage, Papilledema, Car...	ORPHA:97339
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Genu valgum, Hypoplasia of penis, Anal atresia, Hypospadias, Abnormal palate morphology, Cryptorc...	ORPHA:1381
Oligomeganephronia	Renal tubular atrophy, Abnormal renal cortex morphology, Micrognathia, Secundum atrial septal def...	ORPHA:2260
Alagille Syndrome	Micrognathia, Spina bifida occulta, Abnormality of the ureter, Delayed skeletal maturation, Perip...	ORPHA:52
Orofaciodigital Syndrome Type 5	Enamel hypoplasia, Non-midline cleft lip, Abnormality of the philtrum, Crossed fused renal ectopi...	ORPHA:2919
Phaver Syndrome	Camptodactyly of finger, Myelomeningocele, Ventricular septal defect, Short thumb, Butterfly vert...	ORPHA:2876
Sneddon Syndrome	Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Atrophic scars, Hypertension, Lympho...	OMIM:182410
Superficial Siderosis	Back pain, Abnormal vertebral artery morphology, Enlarged sylvian cistern, Lower limb muscle weak...	ORPHA:247245
Capillary Malformation-Arteriovenous Malformation	Telangiectasia, Cerebral ischemia, Neurogenic bladder, Arteriovenous malformation, Cerebral arter...	ORPHA:137667
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Optic atrophy, Micrognathia, Synophrys, Dislocated radial head, Prominent metopic ridge, Thick ey...	OMIM:619512
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Wolff-Parkinson-White syndrome, Mitral valv...	ORPHA:369950
Absence Of The Pulmonary Artery	Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Bronc...	ORPHA:980
Gm1-Gangliosidosis, Type Ii	Patent ductus arteriosus, Sea-blue histiocytosis, Ventriculomegaly, Optic atrophy, Hypoplastic ve...	OMIM:230600
Non-Involuting Congenital Hemangioma	Congestive heart failure, Prominent superficial veins, Hepatic hemangioma, Peripheral arterioveno...	ORPHA:141179
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertro...	OMIM:620135
Seckel Syndrome 9	Polyhydramnios, Ventriculomegaly, Ventricular septal defect, Recurrent urinary tract infections, ...	OMIM:616777
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short tibia, Polyhydramnios, Spinal dysraphism, Thoracic hypoplasia, Flexion contracture, Microgn...	ORPHA:96334
Aymé-Gripp Syndrome	Delayed cranial suture closure, Ventriculomegaly, Pericardial effusion, Abnormal thorax morpholog...	ORPHA:1272
Chromosome 18Q Deletion Syndrome	Ascending tubular aorta aneurysm, Ventriculomegaly, Optic atrophy, Bifid uvula, Short neck, Cleft...	OMIM:601808
Desmosterolosis	Patent ductus arteriosus, Ventriculomegaly, Rhizomelia, Joint contracture of the hand, Micrognath...	OMIM:602398
Distal Monosomy 10P	Non-midline cleft lip, Abnormality of the elbow, Ectopic anus, Short stature, Micrognathia, Hypop...	ORPHA:1580
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Polyhydramnios, Renal dysplasia, Bladder trabeculation, Micrognathia, Pulmonary hypoplasia, Cleft...	OMIM:614080
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Renal hypoplasia/aplasia, Vertebral segmenta...	ORPHA:3186
Congenital Tracheomalacia	Pneumothorax, Bronchiectasis, Pulmonary hypoplasia, Pneumonia, Ventricular septal defect, Esophag...	ORPHA:95430
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Recurrent fractures, Papillary renal cell carcinoma, Nodular goit...	ORPHA:319487
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Asplenia, Ventricular septal defect, Kyphosis, Micrognathia, Campt...	OMIM:619123
Holoprosencephaly 5	High palate, Syntelencephaly, Lateral ventricle dilatation, Deep philtrum, Synophrys, Hydrocephal...	OMIM:609637
Weiss-Kruszka Syndrome	Ventricular septal defect, Ventriculomegaly, Bicuspid aortic valve, Agenesis of corpus callosum, ...	OMIM:618619
Leg, Absence Deformity Of, With Congenital Cataract	Anal atresia, Optic nerve dysplasia, Scoliosis	OMIM:246000
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Short 5th finger, Micrognathia, Abnormal vertebral morphology, Ectopic kidney, N...	OMIM:239800
Baller-Gerold Syndrome	Absent thumb, Optic atrophy, Aplasia of metacarpal bones, Micrognathia, Bifid uvula, Short humeru...	OMIM:218600
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Cleft upper lip, Coloboma, Anterior encephalocele, Ventricular septal defect, Bilateral cleft lip...	OMIM:601357
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Horizontal ribs, Short tibia, Bifid tongue, Hypoplastic facial bones, Pulmonary hypoplasia, Unico...	OMIM:616300
12Q14 Microdeletion Syndrome	Short stature, Micrognathia, Hypodontia, Synophrys, Osteopoikilosis, Intestinal malrotation, Ecto...	ORPHA:94063
Aortic Aneurysm, Familial Thoracic 4	Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce...	OMIM:132900
Craniofacial Microsomia	Vertebral hypoplasia, Micrognathia, Hypoplasia of facial musculature, Pulmonary hypoplasia, Cervi...	OMIM:164210
Myhre Syndrome	Pericardial effusion, Camptodactyly, Short neck, Skeletal muscle hypertrophy, Cleft palate, Thick...	OMIM:139210
Becker Nevus Syndrome	Kyphosis, Supernumerary ribs, Supernumerary nipple, Pectus excavatum, Spina bifida occulta, Rib f...	ORPHA:64755
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Recurrent respiratory infections, Short stature, Block vertebrae, Ve...	OMIM:277300
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology...	ORPHA:1354
Acro-Renal-Mandibular Syndrome	Micrognathia, Butterfly vertebrae, Hip dislocation, Pulmonary hypoplasia, Short neck, Rudimentary...	ORPHA:958
De Barsy Syndrome	Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Pectus excavatum, Delayed ...	ORPHA:2962
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Larsen Syndrome	Hip dislocation, Pectus excavatum, Spina bifida occulta, Elbow dislocation, Hypoplastic cervical ...	OMIM:150250
Orofaciodigital Syndrome Xiv	Bifid tongue, Micrognathia, Holoprosencephaly, Cleft palate, Optic disc coloboma, Ventricular sep...	OMIM:615948
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Horizontal ribs, Short tibia, Micrognathia, Pulmonary hypoplasia, Short neck, Lateral clavicle ho...	OMIM:617925
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Dilated third ventricle, Renal cortical cysts, Ventriculomegaly, Lateral ventricle d...	ORPHA:397715
Holoprosencephaly 13, X-Linked	Vertebral clefting, Micrognathia, Butterfly vertebrae, Optic nerve hypoplasia, Median cleft lip, ...	OMIM:301043
Giant Cell Arteritis	Sudden cardiac death, Optic atrophy, Pericarditis, Aortic dissection, Abdominal aortic aneurysm, ...	ORPHA:397
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypothyroidism, Precocious puberty, Optic disc pallor, Dysphagia, Nephrolithiasis, Patent foramen...	ORPHA:438213
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Renal oncocytoma, Recurrent fractures, Papillary renal cell carci...	ORPHA:97290
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Delayed closure of the anterior fontanel...	OMIM:614886
Kbg Syndrome	Vertebral fusion, Long philtrum, Short stature, Thoracic kyphosis, Synophrys, Oligodontia, Cervic...	ORPHA:2332
Cat-Eye Syndrome	Short stature, Renal hypoplasia/aplasia, Anal atresia, Iris coloboma, Abnormal localization of ki...	ORPHA:195
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Super...	OMIM:609813
Gm1 Gangliosidosis Type 1	Hydrops fetalis, Aspiration pneumonia, Long philtrum, Abnormal odontoid tissue morphology, Gingiv...	ORPHA:79255
Greenberg Dysplasia	Polyhydramnios, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micrognathia,...	OMIM:215140
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Gastroesophageal reflux, Lower-limb joint contracture, Sparse lateral eyebrow, Ventricular septal...	ORPHA:513456
Donnai-Barrow Syndrome	Wide anterior fontanel, Ventricular septal defect, Widow's peak, Intestinal malrotation, Congenit...	ORPHA:2143
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Colpocephaly, Short stature, Hydrocephalu...	OMIM:309801
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Bicuspid aortic valve, Hypertension, A...	OMIM:613355
Lissencephaly Syndrome, Norman-Roberts Type	Patent foramen ovale, Atrial septal defect, Microretrognathia, Dysphagia, Hypoplastic spleen, Int...	ORPHA:89844
Microphthalmia, Syndromic 2	Hypothyroidism, Flexion contracture, Delayed eruption of teeth, Adrenal insufficiency, Bifid uvul...	OMIM:300166
22Q11.2 Duplication Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Micrognathi...	ORPHA:1727
Microphthalmia, Syndromic 12	Retrognathia, Ventricular septal defect, Hypoplastic left atrium, Micrognathia, Pulmonary hypopla...	OMIM:615524
Wrinkly Skin Syndrome	Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Delayed eruption of t...	OMIM:278250
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Heterotaxy, Visceral, 12, Autosomal	Abdominal situs ambiguus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal...	OMIM:619702
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss	Micrognathia, Muscular ventricular septal defect, Duplicated collecting system, Macrocytic anemia...	OMIM:620071
X Small Rings	Aortic root aneurysm, Upper limb undergrowth, Ventricular septal defect, Long philtrum, Mitral st...	ORPHA:96201
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Bifid uvula, Pectus excavatum, Optic nerve hypoplasia, Short neck, Delayed skelet...	OMIM:617506
Intellectual Developmental Disorder, Autosomal Dominant 21	Patent ductus arteriosus, Sacral dimple, Incisor macrodontia, Ventriculomegaly, Short stature, Lo...	OMIM:615502
Acrocallosal Syndrome	Coloboma, Abnormal cardiac septum morphology, Optic atrophy, Everted upper lip vermilion, Bifid u...	OMIM:200990
Shprintzen-Goldberg Craniosynostosis Syndrome	Minimal subcutaneous fat, Micrognathia, Camptodactyly, Pectus excavatum, Dislocated radial head, ...	OMIM:182212
Dextrocardia	Pancreatic hypoplasia, Abnormal pulmonary situs morphology, Abnormal EKG, T-wave inversion, Abnor...	ORPHA:1666
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Natal tooth, Abnormal cardiac septum morphology, Malabsorption, Congeni...	ORPHA:99811
Marshall-Smith Syndrome	Irregular dentition, Ventriculomegaly, Recurrent aspiration pneumonia, Microdontia, Atlantoaxial ...	OMIM:602535
Complete Atrioventricular Septal Defect	Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir...	ORPHA:1329
Arachnoid Cyst	Urinary incontinence, Back pain, Encephalocele, Urinary bladder sphincter dysfunction, Cranial ne...	ORPHA:2356
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventriculomegaly, Coloboma, Synophrys, Broad eyebrow, Hepatic steatosis, Iris coloboma, Smooth ph...	OMIM:619475
Ivic Syndrome	Absent thumb, Short femur, Pectoralis major hypoplasia, Thrombocytopenia, Short 1st metacarpal, C...	OMIM:147750
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Renal duplication, Anemia, Ventricular septal defect, Short stature, Re...	OMIM:613309
Meckel Syndrome	Asplenia, Optic atrophy, Micrognathia, Lobar holoprosencephaly, Furrowed tongue, Cleft palate, Co...	ORPHA:564
Diastrophic Dysplasia	Camptodactyly of finger, Joint dislocation, Kyphosis, Micrognathia, Increased bone mineral densit...	ORPHA:628
Thanatophoric Dysplasia	Patent ductus arteriosus, Polyhydramnios, Short thorax, Ventriculomegaly, Kyphosis, Abnormality o...	ORPHA:2655
Aarskog-Scott Syndrome	Camptodactyly of finger, Delayed eruption of teeth, Pectus excavatum, Everted lower lip vermilion...	ORPHA:915
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Ventriculomegaly, Kyphosis, Short s...	OMIM:230650
Poland Syndrome	Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Absence of subcutaneous f...	ORPHA:2911
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Patent ductus arteriosus, Pulmonary insufficiency, Narrow palate, Long philtrum, Thick lower lip ...	ORPHA:555877
Stormorken Syndrome	Asplenia, Anemia, Howell-Jolly bodies, Short stature, Hematuria, Abnormal bleeding, Bruising susc...	OMIM:185070
Coffin-Siris Syndrome 7	Patent foramen ovale, Sagittal craniosynostosis, Polyhydramnios, Sparse scalp hair, Ventricular s...	OMIM:618027
Limb Body Wall Complex	Thoracic hypoplasia, Abnormal thorax morphology, Spina bifida occulta, Abnormal intestine morphol...	ORPHA:2369
Squalene Synthase Deficiency	Retrognathia, Knee flexion contracture, Abnormality of hair pigmentation, Bicuspid aortic valve, ...	OMIM:618156
Tarp Syndrome	Optic atrophy, Micrognathia, Pulmonary hypoplasia, Pectus excavatum, Alveolar ridge overgrowth, A...	ORPHA:2886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Hyperlordosis, Vertebral fusion, Ventriculomegaly, Kyphosis, Calf muscle hypertrophy, Congenital ...	OMIM:606612
Hereditary Hemorrhagic Telangiectasia	Abnormal cerebral vascular morphology, Retinal telangiectasia, Subarachnoid hemorrhage, Nephrolit...	ORPHA:774
Cat-Eye Syndrome (Type I)	Short stature, Micrognathia, Anal atresia, Iris coloboma, Abnormal heart morphology	DECIPHER:42
Schimke Immuno-Osseous Dysplasia	Nephrotic range proteinuria, Ischemic stroke, Atherosclerosis, Microdontia, Abnormal intestine mo...	ORPHA:1830
Partial Deletion Of The Short Arm Of Chromosome 7	Retrognathia, Aplasia of the distal phalanx of the 5th finger, Patent ductus arteriosus after bir...	ORPHA:261911
Metatropic Dysplasia	Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Aplasia/Hypopl...	ORPHA:2635
Mucopolysaccharidosis, Type Ivb	Chondroitin sulfate excretion in urine, Grayish enamel, Keratan sulfate excretion in urine, Ovoid...	OMIM:253010
Acro-Renal-Ocular Syndrome	Coloboma, Short distal phalanx of the thumb, Iris coloboma, Short hallux, Optic disc coloboma, Po...	ORPHA:959
Diastrophic Dysplasia	Genu valgum, Hip contracture, Patellar dislocation, Cervical kyphosis, Short finger, Kyphoscolios...	OMIM:222600
Wyburn-Mason Syndrome	Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma...	ORPHA:53719
Renpenning Syndrome 1	Coloboma, Micrognathia, Camptodactyly, Pectus excavatum, Synostosis of the proximal phalanx of th...	OMIM:309500
Cenani-Lenz Syndrome	Hypothyroidism, Hip dislocation, Elbow dislocation, Abnormal rib morphology, Abnormal form of the...	ORPHA:3258
Atelosteogenesis, Type I	Polyhydramnios, Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Elbow dislocation, Short...	OMIM:108720
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Ascending tubular aorta aneurysm, Multiple joint contractures, Micrognathia, Atlantoaxial disloca...	ORPHA:536467
Spondylometaphyseal Dysplasia, Corner Fracture Type	Genu varum, Short femoral neck, Short stature, Hypoplasia of the odontoid process, Hyperconvex ve...	OMIM:184255
Donnai-Barrow Syndrome	Short sternum, Non-acidotic proximal tubulopathy, Ventricular septal defect, Wide anterior fontan...	OMIM:222448
Atrial Septal Defect 8	Anomalous pulmonary venous return, Atrial septal defect	OMIM:614433
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, High palate, Micrognathia, Pectus excavatum, Congenital diaphragmatic herni...	OMIM:619699
Alstrom Syndrome	Hypothyroidism, Gingivitis, Chronic active hepatitis, Atherosclerosis, Hepatic steatosis, Hepatom...	OMIM:203800
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities	High palate, Ventriculomegaly, Short philtrum, Atrial septal defect, Inguinal hernia, Muscular ve...	OMIM:618354
Townes-Brocks Syndrome	Hypothyroidism, Abnormal cardiac septum morphology, Iris coloboma, Abnormal rib morphology, Absen...	ORPHA:857
Perlman Syndrome	Nephroblastoma, Polyhydramnios, Everted upper lip vermilion, Renal hamartoma, Volvulus, Interrupt...	OMIM:267000
Congenital Gerbode Defect	Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur...	ORPHA:99095
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short toe, Cleft upper lip, Mandibular prognathia, Aganglionic megacolon, Hydrocephalus, Short ph...	OMIM:239300
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Delayed eruption of teeth, Mild postnatal growth retardation, Epiphyseal stippling...	OMIM:101800
Dilated Cardiomyopathy With Ataxia	Hypothyroidism, 3-Methylglutaconic aciduria, Microvesicular hepatic steatosis, Normochromic micro...	ORPHA:66634
Focal Dermal Hypoplasia	Bifid ureter, Short 4th metacarpal, Optic atrophy, Delayed eruption of teeth, Supernumerary nippl...	OMIM:305600
Juvenile Polyposis Syndrome	Juvenile colonic polyposis, Hepatic arteriovenous malformation, Neoplasm of the gastrointestinal ...	ORPHA:2929
Vater/Vacterl Association	Renal dysplasia, Patent urachus, Abnormal rib morphology, Postnatal growth retardation, Vesicoure...	OMIM:192350
Hypoglossia With Situs Inversus	Asplenia, High palate, Micrognathia, Polysplenia, Hypodontia, Situs inversus totalis, Microglossi...	OMIM:612776
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Short neck, Hypoparathyroidism, Cleft palate, Cont...	OMIM:618223
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Dubowitz Syndrome	Delayed cranial suture closure, Delayed eruption of teeth, Micrognathia, Acute lymphoblastic leuk...	ORPHA:235
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension, Mediastinal lymphadenopathy, Pulmonary capillary hemangiomatosis...	OMIM:234810
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Partial atrioventricular canal defect, Polysplenia, Chronic sinusitis, Intestinal malrotation, Si...	OMIM:619608
Conotruncal Heart Malformations	Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula...	OMIM:217095
Proteus Syndrome	Multiple lipomas, Spinal canal stenosis, Facial hyperostosis, Kyphoscoliosis, Mandibular hyperost...	OMIM:176920
X-Linked Intellectual Disability, Nascimento Type	Synophrys, Abnormal vena cava morphology, Peripheral pulmonary artery stenosis, Abnormal hair who...	ORPHA:163956
Kagami-Ogata Syndrome	Polyhydramnios, Flexion contracture, Micrognathia, Frontal hirsutism, Pulmonary hypoplasia, Limb ...	OMIM:608149
Multicentric Carpotarsal Osteolysis Syndrome	Wrist swelling, Carpal osteolysis, Wrist pain, Stage 5 chronic kidney disease, Micrognathia, Meta...	OMIM:166300
Cardiomyopathy, Familial Hypertrophic, 4	Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a...	OMIM:115197
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Small hand, Short stature, Bicuspid aortic valve, Type II diabetes mellitu...	ORPHA:401923
Fetal Alcohol Syndrome	Non-midline cleft lip, Short stature, Vertebral segmentation defect, Micrognathia, Microdontia, A...	ORPHA:1915
Pallister-Killian Syndrome	Delayed cranial suture closure, Polyhydramnios, Flexion contracture, Ventriculomegaly, Renal dysp...	OMIM:601803
Frontonasal Dysplasia 1	Anterior basal encephalocele, Cranium bifidum occultum, Coloboma, Joint contracture of the hand, ...	OMIM:136760
Prune Belly Syndrome	Patent ductus arteriosus, Congenital posterior urethral valve, Hydroureter, Anal atresia, Pectus ...	OMIM:100100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Micrognathia, Hip di...	OMIM:271640
Osteogenesis Imperfecta	Noncommunicating hydrocephalus, Thoracic hypoplasia, Ventriculomegaly, Flexion contracture, Delay...	ORPHA:666
Fanconi Anemia, Complementation Group Q	Biliary atresia, Absent thumb, Short stature, Esophageal atresia, Anteriorly placed anus, Primum ...	OMIM:615272
Aorta Coarctation	Patent ductus arteriosus, Aortic valve atresia, Pulmonary arterial hypertension, Perimembranous v...	ORPHA:1457
Gm1 Gangliosidosis	Camptodactyly of finger, Optic atrophy, Hepatosplenomegaly, Hirsutism, Limb undergrowth, Dysphagi...	ORPHA:354
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral clefting, Recurrent respiratory infections, Vertebral segmentation defect, Short neck, ...	OMIM:608681
Coronary Arterial Fistula	Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat...	ORPHA:2041
Blau Syndrome	Camptodactyly of finger, Large vessel vasculitis, Pericarditis, Abnormal cranial nerve morphology...	ORPHA:90340
Melorheostosis	Lymphedema, Increased bone mineral density, Arthritis, Joint stiffness, Skeletal muscle atrophy, ...	ORPHA:2485
Joubert Syndrome 18	Intrahepatic biliary atresia, Lobulated tongue, Retrognathia, Ventricular septal defect, Arrhinen...	OMIM:614815
Doors Syndrome	Polyhydramnios, Short 5th finger, Optic atrophy, Short lingual frenulum, Adrenal hyperplasia, Spi...	ORPHA:79500
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ...	OMIM:601927
Cog1-Cdg	Micrognathia, Butterfly vertebrae, Hepatosplenomegaly, Short neck, Posterior rib gap, Smooth phil...	ORPHA:263508
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, High palate, Bicuspid aort...	OMIM:617168
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the philtrum, Abnormality of the elbow, Short stature, Synophrys, Radioulnar synos...	ORPHA:3268
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Renal dysplasia, Vertebral segmentation defect, Renal agenesis, Ectopic kidney, Sh...	ORPHA:2578
8p23.1 deletion syndrome	Atrioventricular canal defect, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal he...	DECIPHER:39
Trisomy 20P	Camptodactyly of finger, Ectopic anus, Abnormal autonomic nervous system physiology, Micrognathia...	ORPHA:261318
Cohen Syndrome	Optic atrophy, Micrognathia, Thick eyebrow, Lumbar hyperlordosis, Genu valgum, Delayed puberty, N...	OMIM:216550
Fanconi Anemia, Complementation Group O	Absent thumb, Short stature, Stage 5 chronic kidney disease, Hypoplasia of the radius, Anal atres...	OMIM:613390
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly, Optic disc pallor, Recur...	OMIM:619170
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Micrognathia, Pulmonary hypoplasia, Cleft vertebral arch, Hepatomegaly, Coarse hair, Cleft palate...	ORPHA:83617
Wiedemann-Rautenstrauch Syndrome	Dilatation of renal calices, Camptodactyly of finger, Optic atrophy, Reduced subcutaneous adipose...	ORPHA:3455
Meier-Gorlin Syndrome 7	Urethral stricture, Breast aplasia, Pulmonary hypoplasia, Heart block, Dislocated radial head, Cl...	OMIM:617063
Alg3-Cdg	High palate, Abnormal uvula morphology, Neural tube defect, Abnormality of the gastrointestinal t...	ORPHA:79321
Down Syndrome	Hypothyroidism, Narrow palate, Renal hypoplasia/aplasia, Aganglionic megacolon, Type II diabetes ...	ORPHA:870
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Pulmonary arterial hypertension, Horizontal ribs, Bell-shaped thorax, G...	OMIM:614857
Frank-Ter Haar Syndrome	Delayed cranial suture closure, Micrognathia, Secundum atrial septal defect, Camptodactyly, Pectu...	OMIM:249420
Verheij Syndrome	Vertebral fusion, Short 5th finger, Coloboma, Abnormal cardiac septum morphology, Short stature, ...	OMIM:615583
Cardiac Valvular Dysplasia 1	Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aortic arch wi...	OMIM:212093
Apert Syndrome	Delayed cranial suture closure, Ventriculomegaly, Ectopic anus, Delayed eruption of teeth, Humero...	OMIM:101200
Heterotaxy, Visceral, 2, Autosomal	Double outlet right ventricle, Atrioventricular canal defect, Asplenia, Left atrial isomerism, Bi...	OMIM:605376
Johanson-Blizzard Syndrome	Abnormal cardiac septum morphology, Delayed eruption of teeth, Microdontia, Delayed skeletal matu...	ORPHA:2315
1Q21.1 Microduplication Syndrome	Gastroesophageal reflux, Hydrocephalus, Hip dislocation, Hypospadias, Cryptorchidism, Tetralogy o...	ORPHA:250994
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Cerebral hemorrhage, Bicuspid aortic valve, Short finger, Stroke	OMIM:300049
Mosaic Trisomy 14	Camptodactyly of finger, High palate, Ectopic anus, Wide mouth, Narrow chest, Micrognathia, Hypop...	ORPHA:1703
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo...	OMIM:265450
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Female hypogonadism, Asplenia, Hypothyroidism, Atrophic gastritis, Enamel hypoplasia, Decreased c...	OMIM:240300
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Gastroesophageal reflux, Cleft upper lip, Ventricular septal defect, Ven...	ORPHA:261236
Multiple Pterygium Syndrome, X-Linked	Increased susceptibility to fractures, Vertebral fusion, Cleft upper lip, Flexion contracture, Ab...	OMIM:312150
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c...	ORPHA:99832
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al...	OMIM:618782
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Abnormal cardiac septum morphology, Hypoplastic frontal sinuses, Microgn...	ORPHA:90652
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp...	ORPHA:555874
Hunter-Macdonald Syndrome	Delayed cranial suture closure, Camptodactyly, Premature osteoarthritis, Delayed skeletal maturat...	OMIM:611962
Schimke Immunoosseous Dysplasia	Microdontia, Short neck, Ovoid vertebral bodies, Coarse hair, Thrombocytopenia, Disproportionate ...	OMIM:242900
Musculocontractural Ehlers-Danlos Syndrome	Pneumothorax, Ventriculomegaly, Subcutaneous hemorrhage, Atlantoaxial dislocation, Cleft palate, ...	ORPHA:2953
Codas Syndrome	Atrioventricular canal defect, Polyhydramnios, Ventriculomegaly, Delayed eruption of teeth, Delay...	OMIM:600373
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Short stature, Micrognathia, Renal agenesis, Unilateral renal agenesis, Ectopic ...	OMIM:601076
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Flexion contracture, Thoracic hypoplasia, Ventriculomegaly, Micrognathia, Pulmona...	OMIM:616897
Arterial Dissection-Lentiginosis Syndrome	Arteriovenous malformation, Arterial dissection	ORPHA:1682
Gracile Bone Dysplasia	Asplenia, Short stature, Ankyloglossia, Hydrocephalus, Decreased skull ossification, Ascites, Hyp...	OMIM:602361
Absence Deformity Of Leg-Cataract Syndrome	Anal atresia, Hyperlordosis, Scoliosis, Lower limb undergrowth	ORPHA:2310
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Pedal edema, Sclerosing cholangitis, Pericarditis, Renal interstitia...	ORPHA:449395
Roifman-Chitayat Syndrome	Short metatarsal, Ventriculomegaly, Optic atrophy, Short metacarpal, Arthritis, Ectopic kidney, S...	OMIM:613328
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus, 11 pairs of ribs, Rhizomelia, Short stature, Narrow chest, Vertebral se...	OMIM:617661
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortic root aneurysm, Pulmonary arterial hypertension, 11 pairs of ribs, Polyhydramnios, Aortopul...	OMIM:620025
Fanconi Anemia, Complementation Group I	Hypothyroidism, Absent thumb, Optic nerve hypoplasia, Short neck, Bone marrow hypocellularity, Pa...	OMIM:609053
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Classical-Like Ehlers-Danlos Syndrome Type 2	Shoulder dislocation, Pericardial effusion, Micrognathia, Hip dislocation, Pectus excavatum, Elbo...	ORPHA:536532
Mucopolysaccharidosis, Type Iiid	Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Elbow flexion contracture, Hypoplastic ...	OMIM:252940
Phakomatosis Pigmentovascularis	Arteriovenous malformation, Reduced bone mineral density	ORPHA:2875
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Renal agenesis, Anal atresia, Oligohydramnios, Abnormality of the endocrine sy...	OMIM:274265
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Ventriculomegaly, Finger joint hypermobility, Butterfly vertebrae, Pectus excavatum, Limited elbo...	OMIM:618870
Capillary Malformation-Arteriovenous Malformation 1	Arteriovenous malformation, Arteriovenous fistula	OMIM:608354
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventriculomegaly, Optic ...	OMIM:618164
3P25.3 Microdeletion Syndrome	Abnormality of thalamus morphology, Micrognathia, Cleft palate, Sacral dimple, Ventricular septal...	ORPHA:435638
Intellectual Developmental Disorder, X-Linked 106	Decreased testicular size, Bicuspid aortic valve, Synophrys, Frontal upsweep of hair, Thin upper ...	OMIM:300997
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Disproportionate short-trunk...	ORPHA:93315
Aortic Valve Disease 3	Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascending aortic dissection, A...	OMIM:618496
Mucopolysaccharidosis, Type Vii	Flexion contracture, Chronic bronchitis, Short neck, Hirsutism, Hepatomegaly, Coarse hair, Thick ...	OMIM:253220
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Micrognathia, Hypertrophic cardiomyopathy, Hirsutism, Dysphagia, Ketonuria, Left ventricular hype...	OMIM:220111
Fanconi Anemia, Complementation Group P	Anemia, Absent thumb, Short stature, Hypoplasia of the radius, Micrognathia, Pancytopenia, Growth...	OMIM:613951
Acalvaria	Spina bifida, Hydrocephalus, Abnormal lung lobation, Holoprosencephaly, Cleft palate, Omphalocele	ORPHA:945
Diamond-Blackfan Anemia 7	Patent ductus arteriosus, Vesicoureteral reflux, Polyhydramnios, Ventricular septal defect, Neutr...	OMIM:612562
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Short stature, Bicuspid aortic valve, Atrial septal defect, Delayed skeletal maturation, Growth d...	OMIM:617744
Orofaciodigital Syndrome V	Lobulated tongue, Bifid tongue, Ventricular septal defect, High palate, Recurrent respiratory inf...	OMIM:174300
Mckusick-Kaufman Syndrome	Patent ductus arteriosus, Urogenital sinus anomaly, Multicystic kidney dysplasia, High palate, Ve...	ORPHA:2473
Tetrasomy 9P	Abnormal cardiac septum morphology, Renal dysplasia, Micrognathia, Bifid uvula, Pulmonary hypopla...	ORPHA:3310
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Ventricular septal defect, Bilateral lung agenesis, Adrenal gland agen...	OMIM:611812
Van Maldergem Syndrome 1	Irregular dentition, Short 4th metacarpal, Micrognathia, Camptodactyly, Tracheomalacia, Short fou...	OMIM:601390
Baller-Gerold Syndrome	Abnormal carpal morphology, Abnormal cardiac septum morphology, Micrognathia, Abnormality of the ...	ORPHA:1225
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Dilatation of renal calices, Gastroesophageal reflux, Branchial anomaly, Ventriculomegaly, Wide m...	ORPHA:466950
Cerebral Arteriovenous Malformation	Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:46724
Brain-Lung-Thyroid Syndrome	Abnormal cardiac septum morphology, Compensated hypothyroidism, Hypoparathyroidism, Patent forame...	ORPHA:209905
Mitochondrial Complex I Deficiency, Nuclear Type 16	Optic atrophy, Adrenal insufficiency, Scoliosis, Aplasia of the left hemidiaphragm, Intrauterine ...	OMIM:618238
Developmental And Speech Delay Due To Sox5 Deficiency	Gastroesophageal reflux, Vertebral fusion, Narrow palate, Optic atrophy, Exaggerated median tongu...	ORPHA:313892
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Hydrops fetalis, Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Pulmo...	OMIM:616546
Phace Syndrome	Aortic root aneurysm, Hypothyroidism, Abnormal sternum morphology, Abnormal cerebral artery morph...	ORPHA:42775
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Kyphosis, Short stature, Joint contracture of the hand, Micrognathia, Short philtru...	ORPHA:352490
20Q13.33 Microdeletion Syndrome	Sacral dimple, Dilation of Virchow-Robin spaces, Short lower limbs, Hip dislocation, Atrial septa...	ORPHA:261311
Multiple Pterygium Syndrome, Lethal Type	Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ...	OMIM:253290
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Increased susceptibility to fractures, Limited elbow extension, High palate, Radioulnar dislocati...	ORPHA:93359
Bartsocas-Papas Syndrome 1	Absent thumb, Flexion contracture, Micrognathia, Alopecia totalis, Short neck, Limb undergrowth, ...	OMIM:263650
Spondylometaphyseal Dysplasia, Axial	Anterior rib cupping, Thoracic hypoplasia, Optic atrophy, Rhizomelia, Short stature, Short femora...	OMIM:602271
White-Sutton Syndrome	Gastroesophageal reflux, Ventral hernia, High palate, Optic atrophy, Abnormality of the gastroint...	ORPHA:468678
Mucopolysaccharidosis, Type Iva	Chondroitin sulfate excretion in urine, Grayish enamel, Lumbar kyphosis, Keratan sulfate excretio...	OMIM:253000
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left ventricular outflow tract obstruction, Aortopulmonary window, Pulmonary hypoplasia, Abnormal...	ORPHA:99050
Kleefstra Syndrome Due To A Point Mutation	Vesicoureteral reflux, Gastroesophageal reflux, Precocious puberty, Ventriculomegaly, Short statu...	ORPHA:261652
Xk Aprosencephaly Syndrome	Polyhydramnios, Ventricular septal defect, Anal atresia, Atrial septal defect, Narrow mouth	ORPHA:3469
Shashi-Pena Syndrome	Patent ductus arteriosus, Retrognathia, Ventriculomegaly, Kyphosis, Dilation of Virchow-Robin spa...	OMIM:617190
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Central hypothyroidism, Polyhydramnios, Contracture of the proximal interphalangeal joint of the ...	OMIM:300998
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Polyhydramnios, Mandibular aplasia, Aplasia/Hypoplasia of the eyebrow, Hypoplasia of penis, Holop...	ORPHA:990
Aortic Arch Interruption	Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary wi...	ORPHA:2299
Coffin-Siris Syndrome	Short 5th finger, Delayed eruption of teeth, Hepatoblastoma, Hirsutism, Delayed skeletal maturati...	ORPHA:1465
Dysosteosclerosis	Irregular vertebral endplates, Ventricular septal defect, Optic atrophy, Short stature, Delayed e...	ORPHA:1782
Retinitis Pigmentosa 89	Hepatic fibrosis, Bicuspid aortic valve, Intrahepatic bile duct dilatation, Hepatosplenomegaly, M...	OMIM:618955
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, High palate, Long philtrum, Abnormal cardiac sep...	ORPHA:250989
Noonan Syndrome 2	Atrioventricular canal defect, Polyhydramnios, Micrognathia, Pectus excavatum, Hypertrophic cardi...	OMIM:605275
Vein Of Galen Aneurysmal Malformation	Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:1053
Hengel-Maroofian-Schols Syndrome	Foot joint contracture, Tooth malposition, Short stature, Widely spaced teeth, Bicuspid aortic va...	OMIM:619641
Brachydactyly, Type B1	Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Ve...	OMIM:113000
Cutis Laxa, Autosomal Recessive, Type Ia	Ascending tubular aorta aneurysm, Vascular tortuosity, Bladder diverticulum, Joint laxity, Pectus...	OMIM:219100
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Delayed eruption of teeth, Bifid uvula, Dislocated radial head, Cigarett...	OMIM:612350
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum, Hydrocephalus, Accelerated skeletal maturation, Congenital diaphragm...	ORPHA:380
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Patent ductus arteriosus, Short toe, Myeloid leukemia, Mandibular prognathi...	ORPHA:404443
Congenitally Corrected Transposition Of The Great Arteries	Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve...	ORPHA:216694
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Optic atrophy, Hepatomegaly, Thrombocytopenia, Splenomegaly, Ventricular septal...	OMIM:614576
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Partial atrioventricular canal defect, Ventricular septal defect, Ventriculomegaly, Bicuspid aort...	OMIM:620066
Heme Oxygenase 1 Deficiency	Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hematuria, Hypertension, Diffuse al...	OMIM:614034
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Retrognathia, Short upper lip, Optic atrophy, Limb hypertonia, Micrognathia, Short philtrum, Anal...	OMIM:616875
Mandibulofacial Dysostosis With Alopecia	Alopecia, Delayed eruption of primary teeth, Bicuspid aortic valve, Hydroureter, Micrognathia, De...	OMIM:616367
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Patellar dislocation, Abnormal cardiac septum morphology, Abnormality of the kidney, ...	ORPHA:3320
Maternal Phenylketonuria	Double outlet right ventricle, High palate, Ventricular septal defect, Long philtrum, Esophageal ...	ORPHA:2209
Vacterl With Hydrocephalus	Polyhydramnios, Micrognathia, Hip dislocation, Pulmonary hypoplasia, Femoral hernia, Abnormal for...	ORPHA:3412
Acrorenal-Mandibular Syndrome	Abnormal sacral segmentation, Micrognathia, Elbow flexion contracture, Butterfly vertebrae, Hip d...	OMIM:200980
Ventriculomegaly With Defects Of The Radius And Kidney	Absent thumb, Vascular dilatation, Ventriculomegaly, Lateral ventricle dilatation, Renal agenesis...	OMIM:602200
Serkal Syndrome	Hypoplasia of the bladder, Ventricular septal defect, Malrotation of small bowel, Renal agenesis,...	ORPHA:139466
Robinow Syndrome, Autosomal Dominant 3	Bifid tongue, Micrognathia, Camptodactyly, Short neck, Cleft palate, Gingival overgrowth, Tricusp...	OMIM:616894
Microphthalmia With Limb Anomalies	Short tibia, Optic atrophy, Micrognathia, Hip dislocation, Elbow dislocation, Cleft palate, Abnor...	ORPHA:1106
Craniofrontonasal Syndrome	Pectus excavatum, Short neck, Cleft palate, Down-sloping shoulders, Congenital pseudoarthrosis of...	OMIM:304110
Mungan Syndrome	Vesicoureteral reflux, Barrett esophagus, Hypoperistalsis, Perimembranous ventricular septal defe...	OMIM:611376
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Everted lower lip vermilion, Furrowed tong...	ORPHA:464738
Dysosteosclerosis	Delayed closure of the anterior fontanelle, Optic atrophy, Delayed eruption of teeth, Micrognathi...	OMIM:224300
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Micrognathia, Pulmonary hypoplasia, Short neck, Increased variability i...	OMIM:617022
Pontocerebellar Hypoplasia, Type 11	Coloboma, Short stature, Anal atresia, Skeletal muscle atrophy, Dysphagia, Recurrent respiratory ...	OMIM:617695
Cowden Syndrome 5	Hypothyroidism, Colonic diverticula, High palate, Kyphosis, Hyperthyroidism, Micrognathia, Thyroi...	OMIM:615108
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Ascending tubular aorta aneurysm, High palate, Ventricular septal defect, Deep ph...	OMIM:309520
Cardiomyopathy, Dilated, 1S	Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef...	OMIM:613426
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Type II diabetes mellitus, Anal ...	ORPHA:1436
Oculocerebrocutaneous Syndrome	Alopecia, Aplasia/Hypoplasia of the distal phalanges of the toes, Ventriculomegaly, Wide mouth, H...	ORPHA:1647
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem...	ORPHA:99104
Stiff Skin Syndrome	Knee flexion contracture, Gastroesophageal reflux, Short stature, Bicuspid aortic valve, Elbow fl...	OMIM:184900
Cornelia De Lange Syndrome	Ventriculomegaly, Delayed eruption of teeth, Micrognathia, Synophrys, Hip dislocation, Pectus exc...	ORPHA:199
Trisomy 8P	Abnormal atrioventricular connection, Multiple joint contractures, Bifid uvula, Short neck, Thin ...	ORPHA:264450
Kabuki Syndrome 2	Atrioventricular canal defect, Short 5th finger, Micrognathia, Hip dislocation, Hirsutism, Cleft ...	OMIM:300867
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Bifid ureter, Renal dysplasia, Vesicoureteral reflux, Vascular dilatation, Cryptorchidism, Renal ...	OMIM:617641
Renal Hypoplasia	Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec...	ORPHA:93101
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Alopecia, Ventricular septal defect, Short stature, Heart murmur, Absent eyelashes, Micrognathia,...	ORPHA:166035
Opitz Gbbb Syndrome	Congenital posterior urethral valve, Smooth philtrum, Dysphagia, Cleft palate, Vesicoureteral ref...	OMIM:300000
Fanconi Anemia, Complementation Group C	Absent thumb, Flexion contracture, Bone marrow hypocellularity, Thrombocytopenia, Ventricular sep...	OMIM:227645
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Polyhydramnios, Finger joint hypermobility, Pectus excavatum, Hepatosplenomegaly, Short neck, Spa...	OMIM:613563
Thyroid Hypoplasia	Hypothyroidism, Short stature, Jaundice, Macroglossia, Thyroid hypoplasia, Growth delay	ORPHA:95720
Adams-Oliver Syndrome 1	Pulmonary arterial hypertension, Alopecia, Cleft upper lip, Encephalocele, Ventricular septal def...	OMIM:100300
Bardet-Biedl Syndrome 2	Hypogonadism, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect, Diabetes mellitus	OMIM:615981
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Respiratory tract infection, Flexion contracture, High palate, Ventriculomegaly, Onion bulb forma...	OMIM:218000
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bell-shaped thorax, Genu varum, Delayed epiphyseal ossification, Vertebral hypoplasia, Short femo...	OMIM:602557
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Hydrocephalus, Abnormal vertebral morphology, Anal atresia, Ab...	OMIM:276950
Angioosteohypertrophic Syndrome	Pulmonary embolism, Multiple lipomas, Cellulitis, Lymphedema, Hematuria, Congestive heart failure...	ORPHA:2346
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Ventricular septal defect, Glossoptosis, Bilateral cleft lip, Bilate...	OMIM:618021
Duane Retraction Syndrome	Anorectal anomaly, Aplasia/Hypoplasia of the thumb, Patchy hypopigmentation of hair, Low posterio...	ORPHA:233
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch...	OMIM:618254
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Ventriculomegaly, Patellar subluxation, Renal dysplasia, Abnormal periodontium morphology, Cleft ...	ORPHA:480880
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Ventriculomegaly, Humeroradial synostosis, Micrognathia, Elbow fl...	OMIM:151050
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia...	OMIM:618780
Chromosome 3Q13.31 Deletion Syndrome	High palate, Ventriculomegaly, Decreased testicular size, Short philtrum, Alobar holoprosencephal...	OMIM:615433
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly, Short stature, Pyloric ste...	OMIM:218350
Short Stature, Microcephaly, And Endocrine Dysfunction	Hypothyroidism, Anemia, Ventriculomegaly, Short stature, Intrauterine growth retardation, Unilate...	OMIM:616541
Cowden Syndrome 6	Hypothyroidism, Colonic diverticula, High palate, Kyphosis, Hyperthyroidism, Micrognathia, Thyroi...	OMIM:615109
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Hypoplastic pulmonary veins, Pectus excavatum, Multiple prenatal ...	OMIM:610682
Ulnar-Mammary Syndrome	Short 5th finger, Elbow flexion contracture, Ventricular septal defect, Short 4th toe, Sparse axi...	OMIM:181450
Meckel Syndrome 14	Retrognathia, Hepatic fibrosis, Pneumothorax, Micrognathia, Polycystic kidney dysplasia, Pulmonar...	OMIM:619879
13Q12.3 Microdeletion Syndrome	Short stature, Oligodontia, Camptodactyly, Thin upper lip vermilion, Kyphoscoliosis, Congenital d...	ORPHA:412035
Kaufman Oculocerebrofacial Syndrome	Bell-shaped thorax, Sparse eyebrow, High palate, Ventriculomegaly, Ventricular septal defect, Sho...	OMIM:244450
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Mitral atresia, Vesicoureteral reflux, Abnormal cardiac septum morphology, Short stature, Hypopla...	ORPHA:140952
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Short stature, Abnormality of the hairline, Thin upper lip vermilion, Congenital ...	ORPHA:370079
Hypothyroidism, Congenital, Nongoitrous, 5	Patent foramen ovale, Hypothyroidism, Decreased circulating free T4 concentration, Elevated circu...	OMIM:225250
Cervical Vertebral Dysplasia	Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d...	OMIM:118005
Ulnar-Mammary Syndrome	Camptodactyly of finger, Ectopic anus, Abnormality of the wrist, Breast aplasia, Absent hand, Ven...	ORPHA:3138
Congenital Tracheal Stenosis	Polyhydramnios, Ascending aorta hypoplasia, Abnormal stomach morphology, Fetal ascites, Abnormali...	ORPHA:141127
Lethal Kniest-Like Dysplasia	Polyhydramnios, Anterior rib cupping, Wide anterior fontanel, Mesomelic/rhizomelic limb shortenin...	ORPHA:2347
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Myelomeningocele, Enlarged thorax, M...	ORPHA:66637
Cohen Syndrome	Optic atrophy, Micrognathia, Pectus excavatum, Iris coloboma, Tooth agenesis, Abnormal eyelash mo...	ORPHA:193
Peters-Plus Syndrome	Polyhydramnios, Ventriculomegaly, Short lingual frenulum, Micrognathia, Biliary tract abnormality...	OMIM:261540
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the fibula, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Aplasia/...	ORPHA:2141
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit...	OMIM:616201
Acrocallosal Syndrome	Wide anterior fontanel, Inguinal hernia, Hypospadias, Abnormal clavicle morphology, Congenital di...	ORPHA:36
Specc1L-Related Hypertelorism Syndrome	Patent ductus arteriosus, Short toe, Ventricular septal defect, Long philtrum, Advanced eruption ...	ORPHA:1519
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Delayed eruption of teeth, Selective tooth ag...	OMIM:305620
Bohring-Opitz Syndrome	Polyhydramnios, Flexion contracture, Micrognathia, Camptodactyly, Supernumerary nipple, Dislocate...	OMIM:605039
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas	Arteriovenous fistula	OMIM:600419
Cowden Syndrome 1	Hypothyroidism, Colonic diverticula, High palate, Kyphosis, Hyperthyroidism, Micrognathia, Thyroi...	OMIM:158350
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hip subluxation, Hypothyroidism, Micrognathia, Synophrys, Hypoplasia of proximal radius, Thick ey...	ORPHA:444077
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect, Rhizomelia, Narrow chest, Micrognathia, Short philtrum, Downturned cor...	ORPHA:93267
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Narrow palate, Crowded maxillary incisors, Aplasia/Hypoplasia of the lun...	ORPHA:2063
Seckel Syndrome 8	Ectopic kidney, Micrognathia, Kyphoscoliosis, Short stature	OMIM:615807
Benign Schwannoma	Abnormality of the liver, Abnormal parotid gland morphology, Facial palsy, Scleral schwannoma, In...	ORPHA:252164
Diets-Jongmans Syndrome	Polyhydramnios, Ventricular septal defect, Short stature, Wide mouth, Joint hypermobility, Thin u...	OMIM:618846
Igg4-Related Aortitis	Hypereosinophilia, Ascending tubular aorta aneurysm, Low back pain, Abnormal common carotid arter...	ORPHA:449400
Odontoid Hypoplasia	Dystopic os odontoideum, Hypoplasia of the odontoid process, Cervical instability, Atlantoaxial i...	OMIM:613628
Tetrasomy 12P	Thick upper lip vermilion, Sparse eyebrow, Long philtrum, Short stature, Delayed eruption of teet...	ORPHA:884
Microphthalmia With Linear Skin Defects Syndrome	Mandibular aplasia, Abnormality of the anus, Abnormal cardiac septum morphology, Abnormal testis ...	ORPHA:2556
Hypothyroidism, Congenital, Nongoitrous, 2	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi...	OMIM:218700
Beckwith-Wiedemann Syndrome	Hypothyroidism, Polyhydramnios, Large intestinal polyposis, Hepatoblastoma, Hypertrophic cardiomy...	ORPHA:116
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Precocious puberty, Coloboma, Short stature, Recurrent fractures, Hyperphosphaturia, Ab...	OMIM:163200
Familial Thyroid Dyshormonogenesis	Delayed cranial suture closure, Thyroid defect in oxidation and organification of iodide, Increas...	ORPHA:95716
Congenital Disorder Of Glycosylation, Type Iit	Urinary incontinence, Small hand, Short stature, Pineal cyst, Short philtrum, Iron deficiency ane...	OMIM:618885
Agnathia-Otocephaly Complex	Polyhydramnios, Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Tracheomalacia, ...	OMIM:202650
Schinzel-Giedion Syndrome	Central hypothyroidism, Ventriculomegaly, Delayed eruption of teeth, Abnormal thorax morphology, ...	ORPHA:798
Phace Association	Patent ductus arteriosus, Anomalous branches of internal carotid artery, Vascular dilatation, Ven...	OMIM:606519
Coffin-Lowry Syndrome	Ventriculomegaly, Optic atrophy, Delayed eruption of teeth, Pectus excavatum, Everted lower lip v...	ORPHA:192
Weill-Marchesani Syndrome 2	Elbow flexion contracture, Ascending aortic dissection, Delayed skeletal maturation, Proportionat...	OMIM:608328
Proboscis Lateralis	Abnormal paranasal sinus morphology, Ventriculomegaly, Optic nerve hypoplasia, Duplication of ren...	ORPHA:141099
Peutz-Jeghers Syndrome	Esophageal neoplasm, Biliary tract neoplasm, Abnormality of the ureter, Intestinal obstruction, P...	ORPHA:2869
Schwartz-Jampel Syndrome, Type 1	Wrist flexion contracture, Micrognathia, Short neck, Delayed skeletal maturation, Skeletal muscle...	OMIM:255800
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Flexion contracture, Optic atrophy, Synophrys, Pectus excavatum, Hypertrop...	OMIM:617303
Fetal Trimethadione Syndrome	High palate, Ventricular septal defect, Micrognathia, Synophrys, Atrial septal defect, Hypospadia...	ORPHA:1913
Chondrodysplasia, Blomstrand Type	Polyhydramnios, Hydrops fetalis, Advanced ossification of carpal bones, Short ribs, Micrognathia,...	OMIM:215045
X-Linked Intellectual Disability, Snyder Type	Cerebral edema, Synophrys, Camptodactyly, Pectus excavatum, Everted lower lip vermilion, Smooth p...	ORPHA:3063
1Q44 Microdeletion Syndrome	Vesicoureteral reflux, High palate, Ventriculomegaly, Abnormal cardiac septum morphology, Short s...	ORPHA:238769
Mucopolysaccharidosis, Type Vi	Flexion contracture, Hypoplastic acetabulae, Delayed eruption of teeth, Sinus tachycardia, Anteri...	OMIM:253200
Trisomy 12P	Short stature, Micrognathia, Supernumerary nipple, Anal atresia, Everted lower lip vermilion, Dow...	ORPHA:1699
Hypothyroidism, Congenital, Nongoitrous, 9	Central hypothyroidism, Decreased circulating free T4 concentration, Short stature, Inappropriate...	OMIM:301035
Ssr4-Cdg	Patent ductus arteriosus, Gastroesophageal reflux, Abnormality of upper lip vermillion, Joint dis...	ORPHA:370927
Wolcott-Rallison Syndrome	Central hypothyroidism, Double outlet right ventricle, Hypothyroidism, Neonatal insulin-dependent...	ORPHA:1667
Townes-Brocks Syndrome 1	Hypothyroidism, Renal dysplasia, Metatarsal synostosis, Holoprosencephaly, Vesicoureteral reflux,...	OMIM:107480
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Polyhydramnios, Ventriculomegaly, Kyphosis, Wide anterior fontanel, Let...	ORPHA:1860
Noonan Syndrome With Multiple Lentigines	Atrioventricular canal defect, Abnormality of the pulmonary artery, Pectus excavatum, Spina bifid...	ORPHA:500
Transaldolase Deficiency	Synophrys, Hepatosplenomegaly, Short neck, Hepatomegaly, Thrombocytopenia, Splenomegaly, Patent f...	OMIM:606003
Fanconi Anemia, Complementation Group R	Growth delay, Hydrocephalus, Anal atresia	OMIM:617244
Oculofaciocardiodental Syndrome	Abnormal cardiac septum morphology, Delayed eruption of teeth, Iris coloboma, Peripheral pulmonar...	ORPHA:2712
Witteveen-Kolk Syndrome	Polyhydramnios, Medial flaring of the eyebrow, Ventriculomegaly, Unilateral cryptorchidism, Iris ...	OMIM:613406
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Thickened ribs, Flexion contracture, Optic atrophy, Hepatosplenomegaly, ...	ORPHA:217085
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum	OMIM:615709
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Thickened ribs, Flexion contracture, Optic atrophy, Hepatosplenomegaly, ...	ORPHA:217093
Floating-Harbor Syndrome	Precocious puberty, Congenital posterior urethral valve, Microdontia, Dislocated radial head, Cel...	ORPHA:2044
Alkaptonuria	Mitral valve calcification, Vertebral fusion, Thickened Achilles tendon, Kyphosis, Arthropathy, L...	OMIM:203500
Cranioectodermal Dysplasia 1	Stage 1 chronic kidney disease, Microdontia, Malformation of the hepatic ductal plate, Pectus exc...	OMIM:218330
Cap Myopathy	Aortic root aneurysm, Increased variability in muscle fiber diameter, High palate, Generalized am...	ORPHA:171881
Campomelic Dysplasia	Irregular dentition, Polyhydramnios, Spinal dysraphism, Thoracic hypoplasia, Micrognathia, Hip di...	OMIM:114290
Metatropic Dysplasia	Flexion contracture, Long coccyx, Delayed skeletal maturation, Enlarged joints, Disproportionate ...	OMIM:156530
Spondyloenchondrodysplasia	Hypothyroidism, Ventriculomegaly, Delayed eruption of teeth, Limb undergrowth, Disproportionate s...	ORPHA:1855
Loeys-Dietz Syndrome 5	Cleft soft palate, Reduced subcutaneous adipose tissue, Bifid uvula, Ascending aortic dissection,...	OMIM:615582
Diamond-Blackfan Anemia 20	Anemia, Acetabular dysplasia, Erythroid hypoplasia, Total anomalous pulmonary venous return	OMIM:618313
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	High anterior hairline, Sparse scalp hair, Short stature, Hydrocele testis, Muscular ventricular ...	OMIM:620062
Fanconi Anemia, Complementation Group B	Absent thumb, Ventriculomegaly, Short neck, Thrombocytopenia, Aplastic anemia, Ventricular septal...	OMIM:300514
Cardiac Valvular Dysplasia 2	Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i...	OMIM:620067
Diaphanospondylodysostosis	Thoracic hypoplasia, Micrognathia, Pulmonary hypoplasia, Short neck, Absent in utero rib ossifica...	OMIM:608022
Diamond-Blackfan Anemia 11	Anemia, Absent thumb, Neutropenia, Short stature, Hypoplasia of the radius, Bicuspid aortic valve...	OMIM:614900
Permanent Congenital Hypothyroidism	Hypothyroidism, Short stature, Jaundice, Macroglossia, Umbilical hernia, Thyroid dysgenesis, Goiter	ORPHA:226292
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Short stature, Decreased testicular size, Anal atresia, Hypoplasia of the ...	ORPHA:93950
Menkes Disease	Abnormal carotid artery morphology, Micrognathia, Pectus excavatum, Chondrocalcinosis, Sparse hai...	ORPHA:565
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Martsolf Syndrome 1	Ventriculomegaly, Finger joint hypermobility, Cardiac arrest, Micrognathia, Pectus excavatum, Sho...	OMIM:212720
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip, Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Mandibular prognathia, Patellar dislocation, Kyphosis, Short stature, Hypodonti...	ORPHA:2916
Schisis Association	Encephalocele, Spina bifida, Anencephaly, Renal agenesis, Anal atresia, Tracheoesophageal fistula...	ORPHA:63862
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventriculomegaly, Optic atrophy, Coloboma, Micrognathia, Broad eyebrow, Smooth philtrum, Furrowed...	OMIM:616975
Maffucci Syndrome	Parathyroid adenoma, Neoplasm of the parathyroid gland, Short stature, Neoplasm of the adrenal co...	ORPHA:163634
Blackfan-Diamond Anemia	Acute myeloid leukemia, Absent thumb, Cleft soft palate, Micrognathia, Nonimmune hydrops fetalis,...	ORPHA:124
Lujan-Fryns Syndrome	Camptodactyly of finger, Macroorchidism, High palate, Micrognathia, Short philtrum, Atrial septal...	ORPHA:776
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension, Optic nerve hypoplasia, Holoprosencephaly, Pituitary dwarfism, Decreased cervical sp...	ORPHA:95494
Tarp Syndrome	Short sternum, High palate, Optic atrophy, Tongue nodules, Hypoplasia of the radius, Micrognathia...	OMIM:311900
Focal Facial Dermal Dysplasia Type Iii	Sparse lateral eyebrow, Abnormality of the upper urinary tract, Short philtrum, Anal atresia, Dow...	ORPHA:1807
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Optic atrophy, Lumbar kyphosis, Hepatosplenomegaly, Hypertrophic cardiomyopa...	ORPHA:505248
Li-Campeau Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Patellar hypoplasia, Ventricular ...	OMIM:619189
Slc35A2-Cdg	Camptodactyly of finger, Gastroesophageal reflux, Hip subluxation, Precocious puberty, Elevated c...	ORPHA:356961
Noonan Syndrome 10	Pectus excavatum, Pleural effusion, Hypertrophic cardiomyopathy, Short neck, Ventricular septal d...	OMIM:616564
Cervical Vertebrae, Agenesis Of	Cervical vertebral agenesis	OMIM:214290
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Dilatation of renal calices, Gastroesophageal reflux, Ventriculomegaly, Wide mouth, Synophrys, Th...	ORPHA:466943
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Situs inversus totalis, Dextrocardia	OMIM:618948
Richieri Costa-Da Silva Syndrome	Genu valgum, Decreased muscle mass, Diastasis recti, Generalized bone demineralization, Short sta...	ORPHA:3101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cleft upper lip, Ventriculomegaly, Optic atrophy, Renal dysplasia, Coloboma, Micrognathia, Congen...	OMIM:236670
Bone Dysplasia, Lethal Holmgren Type	Patent ductus arteriosus, Bell-shaped thorax, Anemia, Joint dislocation, Hernia, Rhizomelia, Abno...	ORPHA:1842
Steinfeld Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Unilateral renal d...	OMIM:184705
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Scoliosis, Promine...	OMIM:309620
White Forelock With Malformations	Atrial septal defect, White forelock, Aplasia/Hypoplasia of the distal phalanges of the toes, Pol...	OMIM:277740
Faciocardiomelic Syndrome	Dental malocclusion, Long philtrum, Wide mouth, Cuboid-shaped vertebral bodies, Micrognathia, Hyp...	OMIM:612731
Classical-Like Ehlers-Danlos Syndrome Type 1	Mitral valve prolapse, Bruising susceptibility, Joint hypermobility, Spina bifida occulta, Skelet...	ORPHA:230839
German Syndrome	Camptodactyly of finger, Abnormal eyebrow morphology, High palate, Abnormal cardiac septum morpho...	ORPHA:2077
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Abnormality of the elbow, Hypoplasia of the radius, Abnormality of t...	ORPHA:2319
Mosaic Trisomy 20	Micrognathia, Cleft palate, Vertebral fusion, Ventricular septal defect, Abnormal mitral valve mo...	ORPHA:1724
Myoectodermal Gonadal Dysgenesis Syndrome	Delayed skeletal maturation, Smooth philtrum, Limited elbow extension, Short palm, Frontal upswee...	OMIM:618419
You-Hoover-Fong Syndrome	Vascular ring, Pectus excavatum, Coarctation of aorta, Double aortic arch, Kyphoscoliosis, Access...	OMIM:616954
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi...	OMIM:275200
Shprintzen-Goldberg Syndrome	Camptodactyly of finger, Ventriculomegaly, Micrognathia, Pectus excavatum, Elbow dislocation, Abn...	ORPHA:2462
Lowe-Kohn-Cohen Syndrome	Anorectal anomaly, Nephropathy, Anal atresia	ORPHA:2408
Mucolipidosis Ii Alpha/Beta	Hip subluxation, Micrognathia, Atlantoaxial dislocation, Camptodactyly, Hip dislocation, Pectus e...	OMIM:252500
Pearson Syndrome	Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Lacticaciduria, Hepatic steatosis, Hypopa...	ORPHA:699
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Thoracolumbar scoliosis, Renal dysplasia, Anal atresia, Cervical ribs, Autoimmune thrombocytopeni...	OMIM:601389
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Sacral dimple, Ventricular septal defect, Thick lower lip vermilion, Micrognathia, Short philtrum...	OMIM:608227
Endocrine-Cerebroosteodysplasia	Thick upper lip vermilion, Polyhydramnios, Ventriculomegaly, Natal tooth, Microphallus, Bilateral...	OMIM:612651
Hypophosphatasia, Infantile	Vertebral clefting, Polyhydramnios, Unossified vertebral bodies, Rachitic rosary, Increased susce...	OMIM:241500
Hydrocephalus, Congenital, 3, With Brain Anomalies	Polyhydramnios, Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker...	OMIM:617967
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Gastroesophageal reflux, Polyhydramnios, Wide anterior fontanel, Ventric...	OMIM:616920
Muscle-Eye-Brain Disease	Meningocele, Optic atrophy, Hydrocephalus, Holoprosencephaly, Myopathy	ORPHA:588
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Ventriculomegaly, Abnormal cerebral vascular morphology, Microdontia, Tooth a...	ORPHA:2637
Bilateral Perisylvian Polymicrogyria	Gastroesophageal reflux, Distal arthrogryposis, Flexion contracture, Limb hypertonia, Abnormality...	ORPHA:98889
Gorlin Syndrome	Vertebral fusion, Mandibular prognathia, Vertebral wedging, Hydrocephalus, Iris coloboma, Carious...	ORPHA:377
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior...	OMIM:122600
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Retrognathia, Optic atrophy, Limb hypertonia, Micrognathia, Short philtrum, Anal atresia, Laryngo...	ORPHA:480898
Cardiac-Valvular Ehlers-Danlos Syndrome	Recurrent shoulder dislocation, Pectus excavatum, Thick eyebrow, Genu recurvatum, Tricuspid regur...	ORPHA:230851
Mosaic Variegated Aneuploidy Syndrome 2	Subvalvular aortic stenosis, Hypothyroidism, Decreased response to growth hormone stimulation tes...	OMIM:614114
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing...	OMIM:271520
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormal bleeding, Abnormality of the submandibular glands,...	ORPHA:79493
Cutis Laxa, Autosomal Recessive, Type Ib	Aortic root aneurysm, Pulmonary artery aneurysm, Pulmonary insufficiency, High palate, Micrognath...	OMIM:614437
Cardiac Valvular Dysplasia, X-Linked	Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ...	OMIM:314400
Hurler Syndrome	Flexion contracture, Microdontia, Hepatosplenomegaly, Hypoplasia of the femoral head, Short neck,...	OMIM:607014
Short Rib-Polydactyly Syndrome	Horizontal ribs, Polyhydramnios, Absent or minimally ossified vertebral bodies, Short tibia, Thor...	ORPHA:1505
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ventriculomegaly, Spontaneous, recurrent epistaxis, Pectus excavatum, Hepatosplenomegaly, Aortic ...	ORPHA:2072
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Hydrocephalus	ORPHA:397951
Aortic Valve Disease 2	Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aorti...	OMIM:614823
Kbg Syndrome	Vertebral arch anomaly, Vertebral fusion, Long philtrum, Short stature, Thoracic kyphosis, Synoph...	OMIM:148050
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, High palate, Ventricular septal defect, Deep philtrum, Micrognathia, Agenes...	OMIM:613884
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Pulmonary sequestration, Ventricular septal defect, Lateral ventricle d...	OMIM:618330
10Q22.3Q23.3 Microduplication Syndrome	Abnormality of the philtrum, Microretrognathia, Hypospadias, Abnormal clavicle morphology, Abnorm...	ORPHA:276422
Braddock-Carey Syndrome 1	Hyperlordosis, Enamel hypoplasia, Multicystic kidney dysplasia, Pierre-Robin sequence, Ventricula...	OMIM:619980
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Micrognathia, Synophrys, Pectus excavatum, Hirsutism, Dysphagia, Scapular winging, Thick eyebrow,...	OMIM:617061
Coffin-Siris Syndrome 12	Delayed cranial suture closure, Hypothyroidism, Hip subluxation, Noncommunicating hydrocephalus, ...	OMIM:619325
Mccune-Albright Syndrome	Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell...	ORPHA:562
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect, Ventriculomegaly,...	OMIM:619895
Nestor-Guillermo Progeria Syndrome	Delayed closure of the anterior fontanelle, Flexion contracture, Sinus tachycardia, Atheroscleros...	OMIM:614008
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Ventriculomegaly, Thyroid lymphangiectasia, Micrognathia, Short neck, Alveolar ri...	OMIM:235255
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Micrognathia, Synophrys, Hip dislocation, Pectus excavatum, Everted lower lip...	ORPHA:96092
Monosomy 9P	Micrognathia, Synophrys, Short neck, Abnormal rib morphology, Cleft palate, Thick eyebrow, Limita...	ORPHA:261112
Hurler Syndrome	Camptodactyly of finger, Angina pectoris, Everted lower lip vermilion, Short neck, Hepatomegaly, ...	ORPHA:93473
Microhydranencephaly, X-Linked	Multiple joint contractures, Holoprosencephaly, Intrauterine growth retardation	OMIM:306990
Lacrimoauriculodentodigital Syndrome	Absent thumb, Micrognathia, Microdontia, Bifid uvula, Dysphagia, Abnormal dental enamel morpholog...	ORPHA:2363
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Flexion contracture, High palate, Long philtrum, Short stature, Microgna...	OMIM:616549
Kapur-Toriello Syndrome	Patent ductus arteriosus, Camptodactyly of finger, Cleft upper lip, Ventricular septal defect, Jo...	OMIM:244300
Kleefstra Syndrome Due To 9Q34 Microdeletion	Ventriculomegaly, Abnormal cardiac septum morphology, Abnormal testis morphology, Synophrys, Ever...	ORPHA:96147
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Right aortic arch, Supraumbilical raphe, Coarctation of aorta	OMIM:140850
16P13.11 Microduplication Syndrome	Ventricular septal defect, Craniosynostosis, Atrial septal defect, Coarctation of aorta, Pectus e...	ORPHA:261243
Gillespie Syndrome	Aniridia, Truncus arteriosus, Ventriculomegaly	OMIM:206700
1Q41Q42 Microdeletion Syndrome	Short stature, Submucous cleft hard palate, Pulmonary hypoplasia, Hyposegmentation of neutrophil ...	ORPHA:250999
Vertebral Hypoplasia With Lumbar Kyphosis	Lumbar kyphosis, Vertebral hypoplasia	OMIM:192900
Ciliary Dyskinesia, Primary, 1	Asplenia, Bronchiectasis, Communicating hydrocephalus, Recurrent bronchitis, Chronic sinusitis, A...	OMIM:244400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Arthrogryp...	OMIM:178110
Transaldolase Deficiency	Cirrhosis, Telangiectasia, Anemia, Hydrops fetalis, Abnormality of the kidney, Atrial septal defe...	ORPHA:101028
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Patent ductus arteriosus, Pierre-Robin sequence, Wide anterior fontanel, Abnormal cardiac septum ...	OMIM:217980
Cloacal Exstrophy	Vesicoureteral reflux, Omphalocele, Myelomeningocele, Spina bifida, Renal hypoplasia/aplasia, Hyd...	ORPHA:93929
Chromosome 10Q26 Deletion Syndrome	Micrognathia, Pectus excavatum, Short neck, Smooth philtrum, Limited elbow extension, Scapular wi...	OMIM:609625
Juvenile Polyposis Of Infancy	Patent ductus arteriosus, Rectal prolapse, Anemia, Short stature, High, narrow palate, Intussusce...	ORPHA:79076
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal cerebral vascular morphology, Median cleft lip, Holoprosencephaly, Cyclopia, Cleft palat...	ORPHA:2165
Pycnodysostosis	Delayed cranial suture closure, Micrognathia, Increased bone mineral density, Hepatosplenomegaly,...	ORPHA:763
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Scoliosis, Dysphagia, Hemivertebrae, Facial palsy	OMIM:614688
Rhombencephalosynapsis	Ventriculomegaly, Septo-optic dysplasia, Esophageal atresia, Aganglionic megacolon, Hydrocephalus...	ORPHA:59315
Dislocation Of The Hip-Dysmorphism Syndrome	Patent ductus arteriosus, Abnormality of the knee, Abnormal cardiac septum morphology, Prominence...	ORPHA:2412
Congenital Total Pulmonary Venous Return Anomaly	Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ...	ORPHA:99125
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension, Dextrocardia, Recurrent respiratory infections, Total anomalous ...	OMIM:106700
Anus, Imperforate	Hypospadias, Anal atresia, Ectopic anus	OMIM:301800
Tricuspid Atresia	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo...	ORPHA:1209
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Selective tooth agenesis, Microdontia, Fair hair, Cleft palate, Sparse eyelashes...	OMIM:604292
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Gastroesophageal reflux, Limited elbow extension, High palate, Short stature, Wide mouth, Microgn...	ORPHA:502434
Floating-Harbor Syndrome	Ivory epiphyses of the distal phalanges of the hand, Congenital posterior urethral valve, Microdo...	OMIM:136140
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Exercise-induced myoglobinuri...	OMIM:607155
Autosomal Dominant Progressive External Ophthalmoplegia	Hypothyroidism, Ventricular arrhythmia, Facial diplegia, Palpitations, Dysphagia, Facial palsy, A...	ORPHA:254892
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia, Intestinal malrotation, Testicular atrophy, Congenital diaphragmatic hernia...	OMIM:601163
Kimura Disease	Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia	ORPHA:482
Wiedemann-Steiner Syndrome	Short 5th finger, Micrognathia, Synophrys, Delayed skeletal maturation, Thick eyebrow, Postnatal ...	OMIM:605130
Focal Facial Dermal Dysplasia 3, Setleis Type	Thick upper lip vermilion, Absent lower eyelashes, Anal atresia, Distichiasis, Sparse hair, Low a...	OMIM:227260
Cantú Syndrome	Hypertrophic cardiomyopathy, Short hallux, Short neck, Ovoid vertebral bodies, Delayed skeletal m...	ORPHA:1517
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Bell-shaped thorax, Vascular dilatation, Severe platyspondyly, S...	OMIM:613320
Restrictive Dermopathy	Camptodactyly of finger, Polyhydramnios, Ascending tubular aorta aneurysm, Multiple joint contrac...	ORPHA:1662
Microphthalmia, Syndromic 1	Camptodactyly, Pulmonary hypoplasia, Pectus excavatum, Iris coloboma, Optic disc coloboma, Lumbar...	OMIM:309800
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Hip dislocation, Limitation of joint mobility, Emphysema, Congenital diaphra...	ORPHA:171719
Hepatocellular Carcinoma	Hypotension, Pedal edema, Hepatomegaly, Thrombocytopenia, Abnormal rectum morphology, Hemobilia, ...	ORPHA:88673
Distal 7Q11.23 Microdeletion Syndrome	Patent ductus arteriosus, Atrial septal defect	ORPHA:254351
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Short toe, Aplasia of the distal phalanges of the toes, Ventricular sep...	OMIM:615297
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Torus palatinus, Generalized osteosclerosis, Cl...	ORPHA:2790
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Generalized bone demineralization, Genu varum, Thoracic hypoplasia, Squared-off pl...	ORPHA:93352
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Polyhydramnios, Severe platyspondyly, Ventriculomegaly, T lymphocytopenia, Abnormal thorax morpho...	ORPHA:508533
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Ventricular septal defect, Short philtrum, Camptodactyly, Atrial septal def...	OMIM:301039
Laterality Defects, Autosomal Dominant	Asplenia, Situs inversus totalis	OMIM:601086
Laubry-Pezzi Syndrome	Patent ductus arteriosus, Patent foramen ovale, Elevated pulmonary artery pressure, Ascending tub...	ORPHA:99094
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Delayed eruption of teeth, Micrognathia, Cervical ribs, Delayed s...	OMIM:601812
Schwartz-Jampel Syndrome	Wrist flexion contracture, Polyhydramnios, Micrognathia, Increased bone mineral density, Pectus e...	ORPHA:800
Odontochondrodysplasia	Patent ductus arteriosus, Dentinogenesis imperfecta, Retrognathia, Short stature, Delayed eruptio...	ORPHA:166272
Lathosterolosis	Thick upper lip vermilion, Micrognathia, Butterfly vertebrae, Hepatosplenomegaly, Gingival overgr...	OMIM:607330
Otopalatodigital Syndrome, Type Ii	Delayed closure of the anterior fontanelle, Micrognathia, Elbow contracture, Pectus excavatum, Sh...	OMIM:304120
Esophageal Atresia	Polyhydramnios, Coloboma, Pulmonary hypoplasia, Dysphagia, Abnormality of the urinary system, Cle...	ORPHA:1199
Cartilage-Hair Hypoplasia	Spinal dysraphism, Abnormal cardiac septum morphology, Heart block, Short neck, Delayed skeletal ...	ORPHA:175
Microphthalmia, Syndromic 5	Coloboma, Short stature, Joint laxity, Optic nerve hypoplasia, Ectopic posterior pituitary, Crypt...	OMIM:610125
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Short stature, Hypoplast...	OMIM:300712
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Hydrocephalus, Unilateral renal agenesis, Pectus excavatum, Optic nerve hypopla...	ORPHA:457284
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Macroglossia, Absent ossification...	ORPHA:226313
X-Linked Dominant Chondrodysplasia Punctata	Flexion contracture, Patellar dislocation, Epiphyseal stippling, Hip dislocation, Hypoplastic cer...	ORPHA:35173
Opsismodysplasia	Polyhydramnios, Severe platyspondyly, Hypoplastic vertebral bodies, Short neck, Short palm, Poste...	OMIM:258480
Dental Anomalies And Short Stature	Intervertebral space narrowing, Mandibular prognathia, Short stature, Widely spaced teeth, Microd...	OMIM:601216
Seckel Syndrome 2	Short stature, Heart murmur, Micrognathia, Microdontia, Ectopic kidney, Hypospadias, Microglossia...	OMIM:606744
Lymphatic Malformation 6	Hypothyroidism, Polyhydramnios, Micrognathia, Nonimmune hydrops fetalis, Pectus excavatum, Pleura...	OMIM:616843
Pulmonary Arteriovenous Malformation	Pulmonary arterial hypertension, Pulmonary hemorrhage, Bacterial endocarditis, Telangiectasia, Is...	ORPHA:2038
3Q29 Microdeletion Syndrome	Patent ductus arteriosus, Subvalvular aortic stenosis, Pulmonary arterial hypertension, Gastroeso...	ORPHA:65286
Tetraamelia Syndrome 1	Urethral atresia, Asplenia, Cleft upper lip, Peripheral pulmonary vessel aplasia, Adrenal gland a...	OMIM:273395
Atelosteogenesis, Type Ii	Increased intervertebral space, Thoracic hypoplasia, Horizontal sacrum, Micrognathia, Cervical ky...	OMIM:256050
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hypothyroidism, Cerebral edema, Abnormal autonomic nervous system physiology, Cerebral vasculitis...	ORPHA:83601
Camptodactyly Syndrome, Guadalajara Type 1	Camptodactyly of finger, Synophrys, Pectus excavatum, Delayed skeletal maturation, Scapular wingi...	ORPHA:1327
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Lateral ventricle dilatation, Smooth philtrum, Sparse eyelashes, T...	OMIM:612863
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension, Ventricular hypertrophy, Long philtrum, Short stature, Optic dis...	OMIM:300887
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Sacral dimple, Retrognathia, Flexion contracture, High palate, Ventricular septal defect, Ventric...	OMIM:617452
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Polyhydramnios, Hypoplasia of the thymus, Intestinal obstruction, Intestinal atresia, Enterocolit...	OMIM:243150
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia, Purpura, Short stature	ORPHA:3204
Pyle Disease	Genu valgum, Mandibular prognathia, Limited elbow extension, Hypoplastic frontal sinuses, Delayed...	OMIM:265900
Ehlers-Danlos Syndrome, Classic Type, 1	Aortic root aneurysm, Narrow maxilla, Joint dislocation, Short stature, Hyperextensibility of the...	OMIM:130000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Horizontal ribs, Thoracic hypoplasia, Bifid tongue, Renal dysplasia, Lateral clavicle hook, Cleft...	OMIM:613091
Ganglioneuroma	Colorectal polyposis, Multiple intestinal neurofibromatosis, Hypertension, Neoplasm of the adrena...	ORPHA:251992
Pseudoxanthoma Elasticum	Sudden cardiac death, Hypothyroidism, Restrictive cardiomyopathy, Abnormal cerebral vascular morp...	ORPHA:758
Perlman Syndrome	Nephroblastoma, Retrognathia, Hyperinsulinemia, Micrognathia, Broad alveolar ridges, Hypoplasia o...	ORPHA:2849
Noonan Syndrome 13	Enlarged thorax, Micrognathia, Microdontia, Broad eyebrow, Short neck, Limited elbow extension, P...	OMIM:619087
Lower Limb Malformation-Hypospadias Syndrome	Sacral dimple, Hypospadias, Short neck, Abnormality of the ureter, Abnormality of the spleen	ORPHA:2487
Johanson-Blizzard Syndrome	Hypothyroidism, Colonic diverticula, Fair hair, Urethrovaginal fistula, Delayed skeletal maturati...	OMIM:243800
Heterotaxy, Visceral, 8, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec...	OMIM:617205
Tatton-Brown-Rahman Syndrome	Vesicoureteral reflux, Sagittal craniosynostosis, Talipes valgus, Horizontal eyebrow, Ventricular...	OMIM:615879
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Gastroesophageal reflux, Ventricular septal defect, Optic atrophy, Short stature, ...	OMIM:249270
Marfan Syndrome	Aortic tortuosity, Meningocele, Ascending tubular aorta aneurysm, Micrognathia, Ascending aortic ...	ORPHA:558
Holoprosencephaly 11	Synophrys, Polysplenia, Holoprosencephaly, Cleft lip, Cleft palate, Thick eyebrow, Agenesis of co...	OMIM:614226
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Inguinal hernia, Aganglionic megacolon, Anal atresia, Hydronephrosis	OMIM:235760
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Micrognathia, Abnormality of de...	ORPHA:2522
Microphthalmia, Isolated, With Coloboma 5	Iris coloboma, Holoprosencephaly, Chorioretinal coloboma, Orofacial cleft	OMIM:611638
Genitopatellar Syndrome	Hypothyroidism, Polyhydramnios, Patellar dislocation, Delayed eruption of teeth, Micrognathia, Pu...	OMIM:606170
Ritscher-Schinzel Syndrome 2	Patent ductus arteriosus, Ventricular septal defect, Short philtrum, Camptodactyly, Atrial septal...	OMIM:300963
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Wide anterior fontanel, Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Dec...	ORPHA:95715
Congenital Rubella Syndrome	Patent ductus arteriosus, Anemia, Ventricular septal defect, Short stature, Jaundice, Abnormality...	ORPHA:290
Stevenson-Carey Syndrome	Gastroesophageal reflux, Pierre-Robin sequence, Coloboma, Joint contracture of the hand, Recurren...	OMIM:611961
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Ventricular septal defect, Fused cervical vertebrae, Short neck, Scoliosis, Low ...	OMIM:214300
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short 5th finger, Ventriculomegaly, Optic atrophy, Everted lower lip vermilion, Cleft palate, Gin...	OMIM:220500
Matthew-Wood Syndrome	Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmonary ...	ORPHA:2470
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormality of the anterior pituitary, Alopecia, Ventricular septal defect, Short stature, Long p...	ORPHA:75389
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Selective tooth agenesis, Microdontia, Fair hair, Cleft palate, Sparse eyelashes...	OMIM:129900
Contractures-Developmental Delay-Pierre Robin Syndrome	Thoracolumbar scoliosis, Wrist flexion contracture, Micrognathia, Radioulnar synostosis, Atrial s...	ORPHA:436003
Mucopolysaccharidosis Type 3	Flexion contracture, Ventriculomegaly, Optic atrophy, Synophrys, Adenoiditis, Hirsutism, Hepatome...	ORPHA:581
Hartsfield Syndrome	Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, ...	ORPHA:2117
Thoracoabdominal Syndrome	Patent ductus arteriosus, Cleft upper lip, Ventral hernia, Anencephaly, Renal agenesis, Ectopia c...	OMIM:313850
Ring Chromosome 7 Syndrome	Short 5th finger, Ventriculomegaly, Bifid uvula, Holoprosencephaly, Cleft palate, Genu valgum, Na...	ORPHA:1449
Joubert Syndrome 14	Meningocele, Encephalocele, Ventricular septal defect, Optic atrophy, Coloboma, Hydrocephalus, Sh...	OMIM:614424
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Cleft soft palate, Short stature, Long philtrum, Bicuspid aortic valve, Micrognat...	OMIM:618529
C Syndrome	Polyhydramnios, Abnormality of the anus, Micrognathia, Pectus excavatum, Dislocated radial head, ...	ORPHA:1308
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Delayed ossification of carpal bones, Anal atresia, Lymphopenia, Pectus excavatum, Dislocated rad...	OMIM:617425
Noonan Syndrome 4	Polyhydramnios, Pectus excavatum, Hypertrophic cardiomyopathy, Short neck, Delayed skeletal matur...	OMIM:610733
Degcags Syndrome	Abnormal renal cortex morphology, Polyhydramnios, Ventriculomegaly, Premature graying of hair, Mi...	OMIM:619488
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio...	ORPHA:199241
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, High palate, Long philtrum, Synophrys, Short philtrum, Supernumera...	OMIM:618929
Marfanoid Habitus With Situs Inversus	Aortic root aneurysm, Mandibular prognathia, Kyphosis, Hyperextensibility of the finger joints, M...	OMIM:609008
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Short stature, Spinal instability	OMIM:251250
Gabriele-De Vries Syndrome	Patent foramen ovale, Distal arthrogryposis, Sparse eyebrow, High palate, Pierre-Robin sequence, ...	OMIM:617557
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Neonatal death	OMIM:226735
Hajdu-Cheney Syndrome	Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Synophrys, Di...	OMIM:102500
Hypermobile Ehlers-Danlos Syndrome	Gingivitis, Ascending tubular aorta aneurysm, Microdontia, Hip dislocation, Genital hernia, Abnor...	ORPHA:285
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Delayed cranial suture closure, Ectopic anus, Micrognathia, Delayed skeletal maturation, Cleft pa...	ORPHA:85199
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Genu varum, Intervertebral space narrowing, Irregular vertebral endplates, Genu valgum, Decreased...	OMIM:609223
Cheilitis Glandularis	Thick lower lip vermilion, Abnormal salivary gland morphology	ORPHA:1221
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Optic atrophy, Short stat...	OMIM:614261
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Micrognathia, Pectus excavatum, Hypertrophic cardiomyopathy, Short neck, Delayed ...	OMIM:115150
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Delayed closure of the anterior fontanelle, Precocious puberty, Renal dysplasia, Micrognathia, Mi...	ORPHA:96182
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Ascending tubular aorta aneurysm, Ventriculomegaly, Micrognathia, Taurodo...	ORPHA:444072
Pseudoachondroplasia	Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Limited elbow extension, Bea...	ORPHA:750
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Short stature, Telangiectasia of the skin, Retinal telangiectasia, Congenital diaphragmatic herni...	ORPHA:438134
Currarino Syndrome	Vesicoureteral reflux, Urinary incontinence, Vascular dilatation, Anal fistula, Perianal abscess,...	OMIM:176450
Orofaciodigital Syndrome Xvii	Retrognathia, Ventriculomegaly, Short stature, Short middle phalanx of the 2nd finger, Median cle...	OMIM:617926
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Deep philtrum, Neuropathic spinal arthropat...	ORPHA:397709
15Q Overgrowth Syndrome	Ureterovesical stenosis, Micrognathia, Bifid uvula, Contracture of the proximal interphalangeal j...	ORPHA:314585
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Colonic diverticula, High palate, Kyphosis, Thick lower lip vermilion, Aganglionic...	OMIM:162300
Lateral Meningocele Syndrome	Meningocele, Micrognathia, Pectus excavatum, Iris coloboma, Short neck, Smooth philtrum, Prominen...	ORPHA:2789
Odontochondrodysplasia 1	Delayed eruption of teeth, Pulmonary hypoplasia, Nephronophthisis, Genu recurvatum, Dentinogenesi...	OMIM:184260
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Delayed cranial suture closure, Flexion contracture, High palate, Ventriculomegaly, Optic atrophy...	OMIM:619383
8P11.2 Deletion Syndrome	Patent ductus arteriosus, Sacral dimple, High palate, Hemolytic anemia, Short stature, Hypogonadi...	ORPHA:251066
Alg9-Cdg	Delayed cranial suture closure, Hypoplasia of the bladder, Pericardial effusion, Micrognathia, Ab...	ORPHA:79328
Noonan Syndrome 8	Patent ductus arteriosus, Polyhydramnios, Abnormal sternum morphology, Curly hair, Ventricular se...	OMIM:615355
Potocki-Lupski Syndrome	Gastroesophageal reflux, Patent foramen ovale, Hypothyroidism, High palate, Dental malocclusion, ...	OMIM:610883
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Holoprosencephaly, Limited elbow extension	OMIM:300706
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Congenital posterior urethral valve, Hip dislocation, Elbow dislocation, Knee dislocation, Radial...	OMIM:620083
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Ventricular septal defect, Optic atrophy, Shor...	ORPHA:457193
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, He...	OMIM:612541
Suleiman-El-Hattab Syndrome	Synophrys, Frontal hirsutism, Hirsutism, Smooth philtrum, Thick eyebrow, Patent foramen ovale, Ve...	OMIM:618950
Pituitary Stalk Interruption Syndrome	Hypothyroidism, Diabetes insipidus, Short stature, Septo-optic dysplasia, Hypoplasia of penis, Ec...	ORPHA:95496
Vissers-Bodmer Syndrome	Holoprosencephaly, Intrauterine growth retardation, Short stature	OMIM:619033
Brachyolmia Type 1, Hobaek Type	Back pain, Intervertebral space narrowing, Short femoral neck, Kyphosis, Squared-off platyspondyl...	OMIM:271530
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow...	ORPHA:293939
Saul-Wilson Syndrome	Irregular vertebral endplates, Ventriculomegaly, Wide anterior fontanel, Short stature, Short met...	OMIM:618150
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
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Camptodactyly of finger, Hypothyroidism, Short stature, Ectopic anus, Microretrognathia, Limitati...	ORPHA:2994
Coffin-Siris Syndrome 6	Retrognathia, Gastroesophageal reflux, Short stature, Deep philtrum, Diaphragmatic eventration, M...	OMIM:617808
Netherton Syndrome	Aminoaciduria, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Short stature, Malabsorpt...	ORPHA:634
Yunis-Varon Syndrome	Polyhydramnios, Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of t...	ORPHA:3472
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia, Hip dislocation, Abnormal heart morphology, Emphysema	OMIM:614100
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Ossifying fibroma of the jaw, Short neck, Delayed skeletal maturation, Short fourth metatarsal, L...	ORPHA:457395
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Camptodactyly of finger, Vesicoureteral reflux, Everted upper lip vermilion, Kyphosis, Dilation o...	OMIM:619951
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Horizontal ribs, Lateral ventricle dilatation, Thoracic dysplasia, Pulmonary hypoplasia, Median c...	OMIM:263520
Isolated Right Ventricular Hypoplasia	Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno...	ORPHA:439
Blepharocheilodontic Syndrome 1	Conical tooth, High anterior hairline, Cleft upper lip, Neural tube defect, Hypodontia, Anal atre...	OMIM:119580
Kniest Dysplasia	Keratan sulfate excretion in urine, Short neck, Enlarged joints, Delayed patellar ossification, C...	ORPHA:485
Kaposiform Lymphangiomatosis	Pericardial effusion, Abnormal thorax morphology, Hepatosplenomegaly, Pleural effusion, Osteolysi...	ORPHA:464329
Spondylometaphyseal Dysplasia, X-Linked	Thoracolumbar scoliosis, Knee flexion contracture, Hip contracture, Kyphosis, Hyperextensibility ...	OMIM:313420
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Micrognathia, Increased bone mineral density, Distal shortening of limbs, Pulmona...	ORPHA:50945
Occipital Horn Syndrome	Short humerus, Pectus excavatum, Limited elbow extension, Coarse hair, Genu valgum, Capitate-hama...	OMIM:304150
Cerebrofacioarticular Syndrome	Irregular dentition, Ventriculomegaly, Short stature, Lymphedema, Micrognathia, Caudal appendage,...	ORPHA:314679
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Hypothyroidism, Retrognathia, Polyhydramnios, High palate, Short statur...	OMIM:618005
19P13.12 Microdeletion Syndrome	Hypothyroidism, Precocious puberty, Ventriculomegaly, Synophrys, Hepatic steatosis, Short neck, C...	ORPHA:254346
Marfanoid-Progeroid-Lipodystrophy Syndrome	Aortic root aneurysm, Retrognathia, High palate, Lipoatrophy, Kyphosis, Hyperextensibility of the...	OMIM:616914
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Polyhydramnios, Ventriculomegaly, Micrognathia, Hepatosplenomegaly, Short neck, Alveolar ridge ov...	ORPHA:1655
Branchiootorenal Syndrome 1	Renal steatosis, Vesicoureteral reflux, High palate, Renal dysplasia, Renal malrotation, Euthyroi...	OMIM:113650
Bohring-Opitz Syndrome	Ventriculomegaly, Abnormal cardiac septum morphology, Optic atrophy, Coloboma, Micrognathia, Syno...	ORPHA:97297
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Facial telangiectasia, Elbow flexion contracture, Camptodactyly, Hepatos...	OMIM:602782
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Precocious puberty, Renal dysplasia, Micrognathia, Pectus excavatum, ...	ORPHA:369837
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Micrognathia, Short neck, Cleft palate, Postnatal growth retardation, Nephrobla...	OMIM:257300
Keratoconus Posticus Circumscriptus	Vesicoureteral reflux, Cleft upper lip, Recurrent urinary tract infections, Abnormal vertebral se...	OMIM:244600
Holoprosencephaly 7	Synophrys, Lobar holoprosencephaly, Median cleft lip, Iris coloboma, Holoprosencephaly, Cleft pal...	OMIM:610828
Phocomelia, Schinzel Type	Meningocele, Hydrops fetalis, Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radiu...	ORPHA:2879
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Micrognathia, Bifid uvula, Abnormal oral frenulum morphology, Primary ad...	ORPHA:2753
Multiple Endocrine Neoplasia Type 1	Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Neoplasm ...	ORPHA:652
Smith-Magenis Syndrome	Hypothyroidism, Precocious puberty, Ventriculomegaly, Micrognathia, Synophrys, Taurodontia, Abnor...	ORPHA:819
Occipital Horn Syndrome	Delayed cranial suture closure, Scarring, Hip dislocation, Abnormality of the wrist, Pectus excav...	ORPHA:198
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Hypothyroidism, Dry hair, Short 4th metacarpal, Short 3rd toe, Short 5th metacarpal, Short 4th to...	OMIM:618569
Glomuvenous Malformation	Arteriovenous malformation, Oral mucosa nodule, Gastrointestinal arteriovenous malformation, Veno...	ORPHA:83454
Sotos Syndrome	Hypothyroidism, Pedal edema, Flexion contracture, Ventriculomegaly, Congenital posterior urethral...	ORPHA:821
Sarcoidosis, Susceptibility To, 1	Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bronchiectasis, Peri...	OMIM:181000
Frontometaphyseal Dysplasia	Camptodactyly of finger, Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Bifi...	ORPHA:1826
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, High palate, Ventriculomegaly, Wide mouth, Bicuspid aortic valve, Micrognathia, Macrog...	OMIM:614501
Khan-Khan-Katsanis Syndrome	Delayed closure of the anterior fontanelle, Bilateral superior vena cava with no bridging vein, V...	OMIM:618460
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Vertebral wedging, Kyphoscoliosis, Platyspondyly, Beaking of vertebral...	OMIM:616583
Alagille Syndrome 1	Renal dysplasia, Hepatocellular carcinoma, Peripheral pulmonary artery stenosis, Abnormal rib mor...	OMIM:118450
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Coloboma, Wide mouth, Macroglossia, Everted lower lip vermilion, Short neck...	OMIM:616789
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion, Hypothyroidism, Abnormality of the pancreas, Jaundice, Chole...	ORPHA:69665
Bardet-Biedl Syndrome 19	Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Atrial septal defect, Hypoplas...	OMIM:615996
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Spondylometaphyseal Dysplasia, Type A4	Enlargement of the costochondral junction, Osteoporotic tarsals, Flat acetabular roof, Severe sho...	OMIM:609052
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Micrognathia, Supernumerary nipple, Anal atresia, Joint hypermobility, Thin u...	OMIM:619243
Mucopolysaccharidosis Type 2	Optic atrophy, Hip osteoarthritis, Hepatomegaly, Papilledema, Gingival overgrowth, Splenomegaly, ...	ORPHA:580
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, I...	ORPHA:2839
Cranioectodermal Dysplasia 2	Horizontal ribs, Polyhydramnios, Biliary cirrhosis, Micrognathia, Microdontia, Pectus excavatum, ...	OMIM:613610
Hernia, Anterior Diaphragmatic	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Micrognathia, Hypertrophic cardiomyopathy, Short neck, Cleft pa...	OMIM:163950
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Patent ductus arteriosus, Atrioventricular canal defect, Horizontal ribs, Polyhydramnios, Short s...	OMIM:617088
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Aarskog-Scott Syndrome	Short 5th finger, Pectus excavatum, Short neck, Curved linear dimple below the lower lip, Cleft p...	OMIM:305400
Atypical Werner Syndrome	Osteolytic defects of the phalanges of the hand, Abnormal testis morphology, Abnormal cerebral va...	ORPHA:79474
Mend Syndrome	Sacral dimple, Crossed fused renal ectopia, High palate, Kyphosis, Short stature, Micrognathia, H...	OMIM:300960
Lambotte Syndrome	Retrognathia, Ventricular septal defect, Semilobar holoprosencephaly, Narrow mouth, Intrauterine ...	OMIM:245552
Myhre Syndrome	Precocious puberty, Abnormal cardiac septum morphology, Abnormal lip morphology, Bifid uvula, Ske...	ORPHA:2588
Marden-Walker Syndrome	Camptodactyly of finger, Renal dysplasia, Micrognathia, Bifid uvula, Pectus excavatum, Aplasia/Hy...	ORPHA:2461
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Elbow ankylosis, Radioul...	ORPHA:3266
Pediatric-Onset Graves Disease	Sinus tachycardia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Increased circ...	ORPHA:525731
Stickler Syndrome Type 1	Long philtrum, Mitral valve prolapse, Hypoplasia of the maxilla, Joint hyperflexibility, Platyspo...	ORPHA:90653
Cartilage-Hair Hypoplasia	Fair hair, Limited elbow extension, Sparse eyelashes, Short palm, Sparse hair, Lumbar hyperlordos...	OMIM:250250
Igg4-Related Ophthalmic Disease	Abnormality of infra-orbital nerve, Eosinophilia, Sialadenitis, Abnormality of the extraocular mu...	ORPHA:449563
Costello Syndrome	Polyhydramnios, Pneumothorax, Ventriculomegaly, Micrognathia, Hypertrophic cardiomyopathy, Short ...	OMIM:218040
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Ventriculomegaly, Coloboma, Micrognathia, Synophrys, Everted lower lip v...	ORPHA:251014
Atelosteogenesis Type I	Polyhydramnios, Absent or minimally ossified vertebral bodies, Joint dislocation, Thoracic hypopl...	ORPHA:1190
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Polyhydramnios, Pericardial effusion, Hyperphosphaturia, Cortical nephro...	ORPHA:51608
Brachyolmia, Maroteaux Type	Short thorax, Short stature, Pectus excavatum, Scoliosis, Platyspondyly, Abnormal form of the ver...	ORPHA:93302
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Neutral Lipid Storage Myopathy	Chronic pancreatitis, Fatty replacement of skeletal muscle, Short stature, Pineal cyst, Shoulder ...	ORPHA:98908
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate concentration, Humerora...	ORPHA:95699
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Sacral dimple, Retrognathia, High palate, Ventricular septal defect, Ventriculomegaly, Short stat...	ORPHA:505237
Noonan Syndrome 9	Sparse eyebrow, Curly hair, Ventricular septal defect, Short stature, Hydroureter, Coarctation of...	OMIM:616559
Cdags Syndrome	Delayed cranial suture closure, Sagittal craniosynostosis, Sparse eyebrow, Sparse scalp hair, Kyp...	OMIM:603116
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j...	OMIM:613870
Mucopolysaccharidosis Type 4	Grayish enamel, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Reduced bone mi...	ORPHA:582
Rhizomelic Chondrodysplasia Punctata, Type 2	Irregular vertebral endplates, High palate, Rhizomelia, Flexion contracture, Micrognathia, Epiphy...	OMIM:222765
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Flexion contracture, Achalasia, Micrognathia, Hip dislocation, Thick eyebrow, Delayed epiphyseal ...	OMIM:616007
Cebalid Syndrome	Congenital diaphragmatic hernia, Thick eyebrow, High palate, Highly arched eyebrow	OMIM:618774
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventriculomegaly, Everted lower lip vermilion, Furrowed tongue, Cleft palate, Sparse hair, Ventri...	OMIM:616449
Cardiofaciocutaneous Syndrome	Optic atrophy, Pectus excavatum, Hypertrophic cardiomyopathy, Short neck, Abnormal eyelash morpho...	ORPHA:1340
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, High palate, Short stature, Atrial septal defect, Abnormality of the ureter, Joint h...	ORPHA:1035
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Aminoaciduria, Gingivitis, Ventriculomegaly, Patellar dislocation, Delayed erupti...	ORPHA:534
Anus, Imperforate	Anal atresia	OMIM:207500
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Ventricular septal defect, Optic atrophy, Short stature, Megalobla...	ORPHA:49827
Congenital Disorder Of Glycosylation, Type Ig	Patent ductus arteriosus, Patent foramen ovale, Respiratory tract infection, Polyhydramnios, Shor...	OMIM:607143
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Flexion contracture, Anterior rib cupping, High palate, Prominent sternum, Short stature, Thoraci...	OMIM:300232
Atelosteogenesis Type Ii	Polyhydramnios, Thoracic hypoplasia, Micrognathia, Elbow flexion contracture, Camptodactyly, Pulm...	ORPHA:56304
Diphallia	Absent thumb, Butterfly vertebrae, Bifid penis, Atrial septal defect, Cryptorchidism, Distal uret...	ORPHA:227
Coffin-Siris Syndrome 4	Short 5th finger, Everted upper lip vermilion, Delayed skeletal maturation, Cleft palate, Thick e...	OMIM:614609
Genitourinary And/Or Brain Malformation Syndrome	Urogenital sinus anomaly, Colpocephaly, Jejunal atresia, Long philtrum, Micrognathia, Joint stiff...	OMIM:618820
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Global systolic dysfunction, Fusion of midcervical facet joints, Widening of cervical spinal cana...	OMIM:606842
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Patent ductus arteriosus, Absent gallbladder, Anemia, Short 5th finger, Ventricular septal defect...	ORPHA:163979
20P12.3 Microdeletion Syndrome	Ventriculomegaly, Short stature, Long philtrum, Wolff-Parkinson-White syndrome, Atrial septal def...	ORPHA:261295
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colorectal polyposis, Abnormal odontoid tissue morphology, Neoplasm of the rectum, Colon cancer, ...	ORPHA:401911
Van Esch-O'Driscoll Syndrome	Sacral dimple, Retrognathia, Pulmonary valve atresia, Ventricular septal defect, Short stature, E...	OMIM:301030
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Polyhydramnios, Frontal hirsutism, Short neck, Thin vermilion border, Optic disc coloboma, Sparse...	OMIM:617157
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Ventriculomegaly, Diaphragmatic eventration, Coarse hair, Elbow flexion contracture, Bruising sus...	OMIM:612394
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Delayed eruption of teeth, Synophrys, Long penis, Spina bifida occulta, Hir...	OMIM:135500
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Agenesis of corpus callosum, Accelerated skeletal maturation, Camptodactyl...	OMIM:618786
Intellectual Developmental Disorder, Autosomal Dominant 66	Aortic root aneurysm, Secundum atrial septal defect, Pectus excavatum, Scoliosis, Cerebral cavern...	OMIM:619910
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corner...	ORPHA:94066
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Ventricular hypertrophy, Patent foramen ovale, Polyhydramnios, Thoracic hypoplasia, Rhizomelia, S...	OMIM:602613
Fanconi Anemia, Complementation Group A	Anemia, Absent thumb, Short stature, Reticulocytopenia, Short thumb, Renal agenesis, Bruising sus...	OMIM:227650
Abruzzo-Erickson Syndrome	Short toe, Coloboma, Short stature, Radioulnar synostosis, Atrial septal defect, Hypospadias, Iri...	ORPHA:921
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Ventriculomegaly, Recurrent fractures, Hypoplasia of penis, Micromelia...	ORPHA:2772
Holoprosencephaly 9	Optic nerve hypoplasia, Holoprosencephaly, Cleft palate, Bilateral cleft lip and palate, Agenesis...	OMIM:610829
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Aortic root aneurysm, Increased susceptibility to fractures, Advanced ossification of carpal bone...	OMIM:615349
Aspergillosis	Osteomyelitis, Bronchiectasis, Hepatitis, Abnormality of the kidney, Pleuritis, Intracranial hemo...	ORPHA:1163
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Absent or minimally ossified vertebral bodies, Bifid tongue, Ventriculomegaly, Ectopic anus, Micr...	ORPHA:93271
Scleroderma	Osteolytic defects of the phalanges of the hand, Flexion contracture, Abnormal large intestine mo...	ORPHA:801
Ellis Van Creveld Syndrome	Atrioventricular canal defect, Delayed eruption of teeth, Microdontia, Abnormal oral frenulum mor...	ORPHA:289
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Biconcave vertebral bodies, High palate, Methioninuria, Brittle hair, Mitral valve prolapse, Limi...	OMIM:236200
Thyroid Dyshormonogenesis 1	Hypothyroidism, Macroglossia, Growth delay, Umbilical hernia, Goiter	OMIM:274400
Craniosynostosis 4	Retrognathia, Sagittal craniosynostosis, Pansynostosis, Coronal craniosynostosis, Optic nerve hyp...	OMIM:600775
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	High palate, Wide anterior fontanel, Long philtrum, Abnormality of cranial sutures, Thoracic kyph...	ORPHA:163649
3Mc Syndrome 1	Short 5th finger, Synophrys, Supernumerary nipple, Spina bifida occulta, Cleft palate, Lambdoidal...	OMIM:257920
Achondrogenesis Type 1B	Polyhydramnios, Short thorax, Femoral hernia, Long philtrum, Abnormal enchondral ossification, Hy...	ORPHA:93298
Cardiomyopathy, Dilated, 2D	Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef...	OMIM:619371
Chromosome 16P13.3 Duplication Syndrome	Micrognathia, Microdontia, Bifid uvula, Camptodactyly, Hip dislocation, Synophrys, Pectus excavat...	OMIM:613458
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Hip contracture, Small hand, Short stature, Ankyloglossia, Intrauterine...	ORPHA:488642
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Thoracic scoliosis, Short stature, Esophageal ulceration, Bicuspid aortic va...	OMIM:176690
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Anauxetic Dysplasia 1	Microdontia, Atlantoaxial dislocation, Elbow flexion contracture, Short neck, Limited elbow exten...	OMIM:607095
Kawasaki Disease	Ascending tubular aorta aneurysm, Pericarditis, Cervical lymphadenopathy, Abnormal pulmonary inte...	ORPHA:2331
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Tooth malposition, Narrow palate, Ventricular septal defect, Short stat...	OMIM:277600
Fanconi Anemia, Complementation Group E	Anemia, Absent thumb, Short stature, Reticulocytopenia, Short thumb, Renal agenesis, Bruising sus...	OMIM:600901
Oculoauriculovertebral Spectrum With Radial Defects	Atrioventricular canal defect, Vesicoureteral reflux, Non-midline cleft lip, Aplasia/Hypoplasia o...	ORPHA:2549
Atrioventricular septal defect 3	Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ...	OMIM:600309
Alpha-Mannosidosis, Infantile Form	Thickened ribs, Pectus excavatum, Hepatosplenomegaly, Osteolysis, Short neck, Pneumonia, Genu val...	ORPHA:309282
Congenital Tufting Enteropathy	Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor...	ORPHA:92050
Catel-Manzke Syndrome	Micrognathia, Bifid uvula, Camptodactyly, Pectus excavatum, Short femur, Short neck, Cleft palate...	OMIM:616145
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Lymphedema, Micrognathia, Abnormal pelvis bone ossificati...	ORPHA:1426
8Q12 Microduplication Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Ventricular septal defect, Long philtrum, Atrial ...	ORPHA:228399
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Short 5th metacarpal, Short stature, Short middle phalanx of the 5th finger, Osteoporosis of vert...	OMIM:156510
Fanconi Anemia, Complementation Group U	Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Hypoplasia of the radius, ...	OMIM:617247
Aredyld Syndrome	Sparse body hair, Mandibular prognathia, Aplasia/Hypoplasia of the eyebrow, Short stature, Type I...	ORPHA:1133
Mesoaxial Hexadactyly And Cardiac Malformation	Patent ductus arteriosus, Ventricular septal defect, Short stature, Torticollis, Atrial septal de...	OMIM:249670
Cockayne Syndrome Type 3	Abnormality of peripheral nerve conduction, Flexion contracture, Premature graying of hair, Mild ...	ORPHA:90324
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Alopecia, Precocious puberty, Hyperthyroidism, Recurrent fractures, Abnormal testis morphology, J...	ORPHA:457059
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Abnormal vertebral segmentation and fusion,...	OMIM:118100
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Flexion contracture, Short femur, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatomegaly, O...	ORPHA:17
Holoprosencephaly 2	Diabetes insipidus, Agenesis of corpus callosum, Bifid uvula, Submucous cleft hard palate, Semilo...	OMIM:157170
Osteogenesis Imperfecta, Type Xiii	Enlarged thorax, Increased bone mineral density, Dislocated radial head, Reduced bone mineral den...	OMIM:614856
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Retrognathia, Gingival recession, Vascular dilatation, Ventriculomegaly, Micrognathia, Atrophic s...	OMIM:618343
Andersen-Tawil Syndrome	Polymorphic ventricular tachycardia, Torsade de pointes, Ventricular arrhythmia, Micrognathia, Pa...	ORPHA:37553
Turnpenny-Fry Syndrome	Polyhydramnios, Microdontia, Pectus excavatum, Delayed skeletal maturation, Hypoplasia of the pri...	OMIM:618371
Schizophrenia 1	Short stature, Renal agenesis, Ectopic kidney, Partially duplicated kidney, Short proximal phalan...	OMIM:181510
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
3M Syndrome	Horizontal ribs, Enlarged thorax, Abnormal cerebral vascular morphology, Delayed eruption of teet...	ORPHA:2616
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Hydrocephalus, Abnormal sacrum morphology, Hypoplasia of the maxilla, Abnormal pal...	ORPHA:93262
Opsismodysplasia	Joint stiffness, Pectus excavatum, Hypoplastic vertebral bodies, Severe short stature, Delayed sk...	ORPHA:2746
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Giant Axonal Neuropathy	Genu valgum, Abnormality of the Achilles tendon, Joint hypermobility, Woolly hair, Pili canalicul...	ORPHA:643
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho...	OMIM:619313
Non-Syndromic Posterior Hypospadias	Esophageal atresia, Displacement of the urethral meatus, Androgen insufficiency, Urethral diverti...	ORPHA:95706
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Narrow palate, Ventriculomegaly, Optic at...	ORPHA:87
Congenital Anomalies Of Kidney And Urinary Tract 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr...	OMIM:618270
Anaplastic Thyroid Carcinoma	Abnormal skeletal muscle morphology, Nodular goiter, Anaplastic thyroid carcinoma, Tracheoesophag...	ORPHA:142
Lamb-Shaffer Syndrome	Optic atrophy, Thoracic kyphosis, Fused cervical vertebrae, Micrognathia, Mild postnatal growth r...	ORPHA:530983
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Ventricular septal defect, Short stature, Long philtrum, Thoracic ky...	ORPHA:85194
H Syndrome	Facial telangiectasia, Bronchiectasis, Camptodactyly, Hepatosplenomegaly, Osteolysis, Delayed ske...	ORPHA:168569
Meier-Gorlin Syndrome 1	Flexion contracture, Micrognathia, Microdontia, Osteochondritis dissecans, Camptodactyly, Elbow d...	OMIM:224690
Oculoskeletodental Syndrome	Hypothyroidism, Thoracic hypoplasia, Elbow flexion contracture, Lacunar stroke, Delayed skeletal ...	OMIM:618440
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Spinal Muscular Atrophy, Type I	Proximal amyotrophy, Ventricular septal defect, Spinal muscular atrophy, Atrial septal defect, To...	OMIM:253300
Pde4D Haploinsufficiency Syndrome	Hypotension, Micrognathia, Caudal interpedicular narrowing, Postnatal growth retardation, Abnorma...	ORPHA:439822
Diamond-Blackfan Anemia 6	Patent ductus arteriosus, Ventricular hypertrophy, Retrognathia, Cleft upper lip, Ventricular sep...	OMIM:612561
Intellectual Developmental Disorder, X-Linked 99	Gastroesophageal reflux, Ectopic kidney, Hypospadias, Joint hyperflexibility, Tracheomalacia, Int...	OMIM:300919
Multiple Sulfatase Deficiency	Peripheral demyelination, Ventriculomegaly, Short stature, Hydrocephalus, Hypoplastic vertebral b...	OMIM:272200
Melnick-Needles Syndrome	Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Abnormal cardiac...	ORPHA:2484
Autosomal Dominant Brachyolmia	Short thorax, Increased vertebral height, Short stature, Kyphoscoliosis, Platyspondyly	ORPHA:93304
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Dental malocclusion, High anterior hairline, Ventricular septal defect,...	OMIM:613680
Chromosome 14Q11-Q22 Deletion Syndrome	Hip subluxation, Optic atrophy, Micrognathia, Unilateral cryptorchidism, Delayed skeletal maturat...	OMIM:613457
Van Maldergem Syndrome 2	Irregular dentition, Hip subluxation, Short 4th metacarpal, Micrognathia, Tracheomalacia, Short f...	OMIM:615546
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hip subluxatio...	ORPHA:99642
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Schneckenbecken Dysplasia	Polyhydramnios, Thoracic hypoplasia, Advanced ossification of carpal bones, Nonimmune hydrops fet...	OMIM:269250
Orofaciodigital Syndrome Vi	Renal dysplasia, Micrognathia, Short femur, Cleft palate, Agenesis of corpus callosum, Incomplete...	OMIM:277170
Secondary Short Bowel Syndrome	Central hypothyroidism, Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorpti...	ORPHA:95427
Maxillonasal Dysplasia	Vertebral clefting, Mandibular prognathia, Patchy distortion of vertebrae, Microdontia, Hypoplasi...	ORPHA:1248
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Coronal craniosynostosis, Micrognathia, Atrial septal defect, Hypoplasi...	OMIM:241310
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Acute lymphoblastic leukemia, Camptodactyly, Peripheral pulmonary artery stenosis, Cleft palate, ...	OMIM:280000
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Beaking of vertebral bodies, Disproportionate short-trunk short statur...	OMIM:619698
Thyrocerebrorenal Syndrome	Abnormality of the musculature of the limbs, Nephritis, Thrombocytopenia, Euthyroid goiter, Renal...	ORPHA:3327
Crouzon Syndrome	Narrow palate, Optic atrophy, Hydrocephalus, Abnormal sacrum morphology, Hypoplasia of the maxill...	ORPHA:207
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Thoracolumbar scoliosis, Retrognathia, High palate, Ventricular septal ...	OMIM:300472
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Sagittal craniosynostosis, Ventricular septal defect, Short stature, Natal ...	OMIM:145420
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Short stature, Abnormal vertebral morph...	ORPHA:163665
Combined Oxidative Phosphorylation Deficiency 47	Long philtrum, Platyspondyly, Short neck, Cryptorchidism, Hepatomegaly, Dysphagia, Dehydration, S...	OMIM:618958
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Anal atresia, Abnormal hair quantity, Carious teeth, Distichiasis, Bilateral cleft...	ORPHA:1997
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Anemia, Absent thumb, Esophageal atresia, Micrognathia, Hydrocephalus, Unilat...	OMIM:614083
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Conical tooth, Cleft upper lip, Sparse body hair, Ventricular septal de...	OMIM:106260
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ...	OMIM:615779
Neurofibroma	Spinal neurofibromas, Palmar neurofibromas, Neoplasm of the trachea, Atypical neurofibromatosis, ...	ORPHA:252183
Congenital Contractural Arachnodactyly	Camptodactyly of finger, Flexion contracture, High palate, Mitral valve prolapse, Aortic aneurysm...	ORPHA:115
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Patent ductus arteriosus, Increased intervertebral space, Short ribs, Lumbar platyspondyly, Limb ...	OMIM:618961
Autosomal Dominant Spastic Paraplegia Type 10	Ankle clonus, Upper limb amyotrophy, Lower limb muscle weakness, Distal lower limb amyotrophy, Ur...	ORPHA:100991
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Polyhydramnios, Anemia, Renal hypoplasia/aplasia, Micrognathia, Aplasia/Hypoplasia of the lungs, ...	ORPHA:1046
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Polyhydramnios, Flexion contracture, Thoracic hypoplasia, Lateral ventricle dilatation, Micrognat...	OMIM:300868
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair, Hyperlordosis, Short stature, Abnormal muscle fiber morphology, Hypoplasia of p...	ORPHA:3068
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Hypothyroidism, Flexion contracture, Abnormal autonomic nervous system p...	ORPHA:3206
Mass Syndrome	Mitral valve prolapse, Aortic aneurysm, Ascending aortic dissection, Scoliosis, Pectus carinatum	OMIM:604308
Mogs-Cdg	Hypothyroidism, Polyhydramnios, Optic atrophy, Fair hair, Hepatosplenomegaly, Hirsutism, Hepatome...	ORPHA:79330
17Q23.1Q23.2 Microdeletion Syndrome	Patent ductus arteriosus, Sacral dimple, Pulmonary arterial hypertension, Gastroesophageal reflux...	ORPHA:261279
Seizures-Scoliosis-Macrocephaly Syndrome	Gastroesophageal reflux, Polyhydramnios, Long philtrum, Abnormality of the kidney, Atrial septal ...	ORPHA:466926
Grange Syndrome	Carotid artery stenosis, Increased susceptibility to fractures, Coronary artery stenosis, Recurre...	OMIM:602531
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick upper lip vermilion, Polyhydramnios, Short lingual frenulum, Microdontia, Camptodactyly, Sp...	OMIM:617360
Meester-Loeys Syndrome	Ascending tubular aorta aneurysm, Ventriculomegaly, Bifid uvula, Camptodactyly, Aortic dissection...	OMIM:300989
Fucosidosis	Flexion contracture, Hepatomegaly, Thick eyebrow, Vacuolated lymphocytes, Splenomegaly, Lumbar hy...	OMIM:230000
Stuve-Wiedemann Syndrome 1	Short tibia, Abnormal autonomic nervous system physiology, Micrognathia, Elbow flexion contractur...	OMIM:601559
Cowden Syndrome	Colorectal polyposis, High palate, Mucosal telangiectasiae, Kyphosis, Enlarged polycystic ovaries...	ORPHA:201
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Polyhydramnios, Everted lower lip vermilion, Hirsutism, Pulmonary artery stenosis, Smooth philtru...	ORPHA:459070
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Alopecia, Hepatitis, Type II diabe...	OMIM:269200
Roberts-Sc Phocomelia Syndrome	Wrist flexion contracture, Polyhydramnios, Absent thumb, Coloboma, Micrognathia, Elbow flexion co...	OMIM:268300
Ring Chromosome 13 Syndrome	Urogenital sinus anomaly, Alopecia, Aplasia/hypoplasia involving bones of the hand, Hypoplasia of...	ORPHA:96176
Primary Pulmonary Hypoplasia	Patellar hypoplasia, Pneumothorax, Micrognathia, Secundum atrial septal defect, Pulmonary hypopla...	ORPHA:2257
Multiple Epiphyseal Dysplasia Type 4	Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis,...	ORPHA:93307
Solitary Median Maxillary Central Incisor	Cleft upper lip, Decreased response to growth hormone stimulation test, Coloboma, Short stature, ...	OMIM:147250
Proteus-Like Syndrome	Mandibular prognathia, Hydrocephalus, Communicating hydrocephalus, Venous insufficiency, Polycyst...	ORPHA:2969
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Atrioventricular canal defect, Gastroesophageal reflux, Cyst of the duc...	OMIM:619480
Restrictive Dermopathy 1	Polyhydramnios, Flexion contracture, Micrognathia, Pulmonary hypoplasia, Ankylosis, Sparse eyelas...	OMIM:275210
Multiple Endocrine Neoplasia Type 2	Hypertension associated with pheochromocytoma, Ganglioneuromatosis, Parathyroid adenoma, Reduced ...	ORPHA:653
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa...	OMIM:274300
Pseudodiastrophic Dysplasia	Rhizomelia, Micrognathia, Hypoplasia of the odontoid process, Camptodactyly, Elbow dislocation, S...	OMIM:264180
Kaposi Sarcoma	Abnormality of the liver, Abnormality of the gastrointestinal tract, Lymphedema, Generalized lymp...	ORPHA:33276
Hall-Riggs Mental Retardation Syndrome	Enamel hypoplasia, Irregular vertebral endplates, Kyphosis, Thick lower lip vermilion, Osteoporos...	OMIM:234250
Neu-Laxova Syndrome 1	Polyhydramnios, Ventriculomegaly, Micrognathia, Camptodactyly, Pulmonary hypoplasia, Short neck, ...	OMIM:256520
Ventricular Septal Defect 1	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall...	OMIM:614429
Noonan Syndrome 7	Curly hair, Short stature, Impaired oropharyngeal swallow response, Atrial septal defect, Pectus ...	OMIM:613706
Pseudoxanthoma Elasticum, Forme Fruste	Retinal hemorrhage, Abnormal sternum morphology, Peau d'orange, High palate, Cerebral hemorrhage,...	OMIM:177850
Desbuquois Dysplasia 1	Advanced ossification of carpal bones, Short neck, Smooth philtrum, Advanced tarsal ossification,...	OMIM:251450
Hyperphosphatasia-Intellectual Disability Syndrome	Telangiectasia, High palate, Mandibular prognathia, Aganglionic megacolon, Micrognathia, Bifid uv...	ORPHA:247262
Juberg-Hayward Syndrome	Cleft upper lip, Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulatio...	OMIM:216100
Stickler Syndrome, Type I	Pierre-Robin sequence, Kyphosis, Arthropathy, Micrognathia, Mitral valve prolapse, Bifid uvula, S...	OMIM:108300
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Ankle clonus, High palate, Ventricular septal defect, Lateral ventricle dilatation...	OMIM:619995
Ctcf-Related Neurodevelopmental Disorder	Ventriculomegaly, Microdontia, Synophrys, Cleft palate, Thick eyebrow, Sacral dimple, Pulmonary h...	ORPHA:363611
Intellectual Developmental Disorder, Autosomal Dominant 52	Hypothyroidism, High palate, Lumbar scoliosis, Synophrys, Bilateral cryptorchidism, Short philtru...	OMIM:617796
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, Pectus excavatum, Delayed skeletal maturation, Lambdoidal craniosynos...	OMIM:615398
Insulin-Resistance Syndrome Type B	Biliary cirrhosis, Hyperinsulinemic hypoglycemia, Hirsutism, Thrombocytopenia, Pneumonia, Fasting...	ORPHA:2298
Nijmegen Breakage Syndrome	Non-midline cleft lip, Short neck, Abnormal hair morphology, Cleft palate, Thrombocytopenia, Poll...	ORPHA:647
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Abnormality of the philtrum, Recurrent fractures, Kyphosis, Short statur...	ORPHA:3409
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, Tracheomalacia, Pectus excavatum, Everted lower lip vermi...	OMIM:234100
Thyrocerebroretinal Syndrome	Goiter, Thrombocytopenia, Skeletal muscle atrophy, Nephritis	OMIM:274240
Progressive Pseudorheumatoid Arthropathy Of Childhood	Wrist swelling, Camptodactyly, Polyarticular arthropathy, Generalized osteoporosis, Irregular ace...	ORPHA:1159
Aortic Valve Disease 1	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp...	OMIM:109730
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Palpitations, Delayed skeletal maturation, Scapular winging, Cleft palate, Short pa...	OMIM:170390
Non-Acquired Panhypopituitarism	Hypotension, Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased respo...	ORPHA:90695
Congenital Diaphragmatic Hernia	Prominent sternum, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Intestinal malrotat...	ORPHA:2140
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Hypoplastic vertebral bodies, Holoprosencephaly, Delayed skeletal maturation, Shor...	ORPHA:2163
Brachyolmia Type 1, Toledo Type	Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Increased urinary disac...	OMIM:271630
Culler-Jones Syndrome	Diabetes insipidus, Cleft upper lip, Anterior pituitary hypoplasia, Short stature, Hypogonadism, ...	OMIM:615849
Prader-Willi Syndrome Due To Translocation	Lateral ventricle dilatation, Micrognathia, Bifid uvula, Everted lower lip vermilion, Short neck,...	ORPHA:177907
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Flexion contracture, Micrognathia, Pectus excavatum, Smooth philtrum, Furrowed tongue, Thick eyeb...	OMIM:300534
Otopalatodigital Syndrome Type 1	Hypoplastic frontal sinuses, Increased bone mineral density, Oligodontia, Anodontia, Synostosis o...	ORPHA:90650
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic atrophy, Micrognathia, Epiphyseal stippling, Camptodactyly, Intrahepatic biliary dysgenesis...	OMIM:614866
Coffin-Lowry Syndrome	Delayed closure of the anterior fontanelle, Ventriculomegaly, Lumbar kyphosis, Pectus excavatum, ...	OMIM:303600
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Small hand, Short stature, Hypoplasia of the odontoid process, Platyspondyly, Malar flattening, S...	ORPHA:85172
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Microdontia, Hypodontia, Hydrocephalus, Short philtrum, Hypoplasia of the ...	OMIM:601499
Spondyloepimetaphyseal Dysplasia, Krakow Type	Patent ductus arteriosus, Knee flexion contracture, High palate, Rhizomelia, Ulnar deviation of t...	OMIM:618162
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Avascular necrosis, Congestive heart failure, Hypertension, Hypertrophic card...	ORPHA:1345
Combined Oxidative Phosphorylation Deficiency 32	Gastroesophageal reflux, Optic atrophy, Kyphoscoliosis, Horseshoe kidney, Dysphagia, Joint contra...	OMIM:617664
Feingold Syndrome	Patent ductus arteriosus, Short stature, Esophageal atresia, Micrognathia, Annular pancreas, Abno...	ORPHA:1305
Igg4-Related Thyroid Disease	Hypothyroidism, Sialadenitis, Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, T...	ORPHA:64744
Fraser Syndrome	Bifid tongue, Ectopic anus, Pulmonary hypoplasia, Abnormal hair pattern, Orofacial cleft, Multicy...	ORPHA:2052
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Short stature, Abnormal auditory evoked potentials, Hydrocephalus, Hip dislocat...	OMIM:109120
Teebi-Shaltout Syndrome	Camptodactyly, Pectus excavatum, Smooth philtrum, Cleft palate, Sparse hair, Slow-growing hair, V...	OMIM:272950
Pelvic Lipomatosis With Crossed Renal Ectopia	Ectopic kidney, Pelvic lipomatosis	OMIM:169545
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hyperextensibility at wrists, Flexion contracture, High palate, Long philtrum, Limb hypertonia, B...	ORPHA:481152
Atrial Septal Defect 1	Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi...	OMIM:108800
Loeys-Dietz Syndrome 6	Abdominal aortic aneurysm, Ventricular hypertrophy, High palate, Hip osteoarthritis, Intervertebr...	OMIM:619656
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, High palate, Kyphosis, Pectus excavatum, Hypoplasia of the maxilla, Scolio...	OMIM:300676
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Cleft palate, Short palm, Postnatal growth retardation, Patent foramen ovale, Atrial septal defec...	OMIM:619184
Anauxetic Dysplasia 3	Retrognathia, Gastroesophageal reflux, Hip subluxation, Genu valgum, High anterior hairline, Wide...	OMIM:618853
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Retinal coloboma, Interrupted aortic arch, Coarctation of aorta, Macular coloboma, Facial palsy	OMIM:107550
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Delayed cranial suture closure, Pneumothorax, Ventriculomegaly, Scarring, Pectus excavatum, Cleft...	OMIM:601776
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Vesicoureteral reflux, Mandibular prognathia, Sparse lateral eyebrow, Ventricular septal defect, ...	OMIM:619103
Mowat-Wilson Syndrome	Ventriculomegaly, Delayed eruption of teeth, Broad eyebrow, Supernumerary nipple, Pectus excavatu...	OMIM:235730
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, High palate, Mitral valve prolapse, Hydrocephalus, Absent nipple, Pectu...	OMIM:104350
Atrial Septal Defect 4	Patent foramen ovale, Atrial septal defect, Coarctation of aorta	OMIM:611363
Oxoglutaric Aciduria	Short stature, Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration, Skeletal muscle a...	ORPHA:31
Ring Chromosome 8 Syndrome	Polyhydramnios, Abnormal palate morphology, Abnormality of the ureter, Low posterior hairline, Hy...	ORPHA:1450
Ververi-Brady Syndrome	High palate, Short stature, Wide mouth, Everted lower lip vermilion, Thin upper lip vermilion, De...	OMIM:617982
Glossopharyngeal Neuralgia	Mandibular pain, Vascular dilatation, Abnormality of the cervical spine, Abnormal glossopharyngea...	ORPHA:221098
Arboleda-Tham Syndrome	Optic atrophy, Recurrent aspiration pneumonia, Secundum atrial septal defect, Pectus excavatum, S...	OMIM:616268
Enlarged Parietal Foramina	Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation, Cleft lip, Short clavic...	ORPHA:60015
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Abnormal cardiac septum morpholog...	ORPHA:1352
Spondylocarpotarsal Synostosis Syndrome	Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Cleft palate,...	OMIM:272460
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the eyebrow, Kyphosis, Short stature, Micrognathia, ...	ORPHA:3082
Infantile Liver Failure Syndrome 3	Short stature, Jaundice, Hypoplastic vertebral bodies, Hepatic steatosis, Hepatic bridging fibros...	OMIM:618641
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Optic nerve compression, Retroperitoneal fibrosis, Nodular goiter, ...	ORPHA:79078
Gaucher Disease, Type Ii	Gastroesophageal reflux, Anemia, Recurrent aspiration pneumonia, Double aortic arch, Trismus, Hep...	OMIM:230900
Common Variable Immunodeficiency	Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Recurrent respiratory infections, Rec...	ORPHA:1572
Duplication Of The Pituitary Gland	Retrognathia, Polyhydramnios, Abnormality of masseter muscle, Abnormality of the cervical spine, ...	ORPHA:314621
Graves Disease, Susceptibility To, 1	Congestive heart failure, Increased circulating free T3, Decreased thyroid-stimulating hormone le...	OMIM:275000
3-Methylglutaconic Aciduria, Type V	Sudden cardiac death, 3-Methylglutaconic aciduria, Microvesicular hepatic steatosis, Normochromic...	OMIM:610198
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Short stature, Anal atresia, Bone marrow hypocellularity, T-cell acute ly...	OMIM:605724
Insulin-Like Growth Factor I, Resistance To	Micrognathia, Reduced subcutaneous adipose tissue, Synophrys, Pectus excavatum, Delayed skeletal ...	OMIM:270450
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos...	OMIM:259440
Epiphyseal Dysplasia, Multiple, 7	Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac...	OMIM:617719
Noonan Syndrome 5	Polyhydramnios, Abnormal sternum morphology, Mandibular prognathia, Curly hair, Sparse eyebrow, S...	OMIM:611553
Mulchandani-Bhoj-Conlin Syndrome	Retrognathia, Hyperlordosis, Severe short stature, Horseshoe kidney, Scoliosis, Intrauterine grow...	OMIM:617352
Chondroectodermal Dysplasia With Night Blindness	Abnormality of the knee, Short stature, Micrognathia, Abnormality of dental morphology, Abnormal ...	ORPHA:319195
Exstrophy-Epispadias Complex	Absent penis, Renal dysplasia, Bladder fistula, Abnormality of the ureter, Bifid penis, Vesicoure...	ORPHA:322
Livedoid Vasculopathy	Macular purpura, Pedal edema, Anemia, Abnormality of the peripheral nervous system, Ischemic stro...	ORPHA:542643
Kinsship Syndrome	Ventriculomegaly, Micrognathia, Synophrys, Hip dislocation, Cervical ribs, Dislocated radial head...	OMIM:619297
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Flexion contracture, Muscle fiber atrophy, Secundum atrial septal defect, Pulmonary hypoplasia, M...	OMIM:616866
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Diabetes insipidus, Polyhydramnios, Decreased muscle mass, Ventriculomegaly, Wide mouth, Congesti...	ORPHA:500533
Wildervanck Syndrome	Meningocele, Pseudopapilledema, Fused cervical vertebrae, Short neck, Low posterior hairline, Fac...	ORPHA:3456
Hypertelorism-Microtia-Facial Clefting Syndrome	Crossed fused renal ectopia, Median cleft lip and palate, Severe short stature, Thenar muscle atr...	ORPHA:2213
46,Xy Sex Reversal 4	Distal symphalangism, High palate, Long philtrum, Renal dysplasia, Micrognathia, Anal atresia, Ur...	OMIM:154230
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Genu varum, Short stature, Delayed ossification of carpal bones, Delayed skeletal maturation, Irr...	OMIM:617974
Pontocerebellar Hypoplasia, Type 17	Patent ductus arteriosus, Gastroesophageal reflux, Ventricular septal defect, Kyphosis, Limb hype...	OMIM:619909
Thymic Neuroendocrine Tumor	Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ...	ORPHA:97289
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Bell-shaped thorax, Ventriculomegaly, Kyphosis, Optic atrophy, Agenesis of corpus callosum, Hydro...	OMIM:618476
Dyskeratosis Congenita	Abnormal testis morphology, Premature graying of hair, Neoplasm of the pancreas, Taurodontia, Bon...	ORPHA:1775
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Genu valgum, Short femoral neck, Short stature, Platyspondyly, Irregularity of vertebral bodies	OMIM:609324
Ivic Syndrome	Aplastic clavicle, Hypoplasia of the radius, Short thumb, Synostosis of carpal bones, Radioulnar ...	ORPHA:2307
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Patent foramen ovale, High palate, Ventriculomegaly, Petechiae, Long ph...	OMIM:251290
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Thoracic hypoplasia, Ventriculomegaly, Renal dysplasia, Fair hair, Micrognathia, Microdontia, Bif...	OMIM:266920
Hyperparathyroidism, Transient Neonatal	Polyhydramnios, Ventriculomegaly, Short femur, Ovarian cyst, Recurrent fractures, Short ribs, Enl...	OMIM:618188
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Sparse eyebrow, Short stature, Micrognathia, Bifid uvula, Congenital diaphragmatic hernia, Macroc...	OMIM:606164
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Pulmonary artery stenosis, Hepatomegaly, Abnormal rib morphology, Abno...	ORPHA:667
3Mc Syndrome 2	Hip dislocation, Hypoplasia of the musculature, Cleft palate, Postnatal growth retardation, Parti...	OMIM:265050
Restrictive Dermopathy 2	Gastroesophageal reflux, Hypoplastic facial bones, Microretrognathia, Short clavicles, Rectal pro...	OMIM:619793
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Short femoral neck, Short stature, Sparse axillary hair, Disharmonious carpal bone, ...	OMIM:608154
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly, Atrial septal defect, Down...	OMIM:618974
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, High palate, Recurrent fractures, Kyphosis, Short stature, Coronal cra...	OMIM:616294
Atrial Septal Defect 9	Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Increased bone mineral density, Stiff knee, Limb pain, Premature osteoarthrit...	ORPHA:93284
Telangiectasia, Hereditary Hemorrhagic, Type 1	Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ...	OMIM:187300
Postaxial Acrofacial Dysostosis	Midgut malrotation, Conical tooth, Supernumerary vertebrae, Cleft upper lip, Hypoplasia of the ra...	OMIM:263750
Spondyloepiphyseal Dysplasia, Kimberley Type	Genu varum, Genu valgum, Delayed skeletal maturation, Platyspondyly, Proportionate short stature	OMIM:608361
Acrodysostosis With Multiple Hormone Resistance	Fair hair, Hypoplastic vertebral bodies, Short toe, Short metatarsal, Absent/hypoplastic paranasa...	ORPHA:280651
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Hypopl...	ORPHA:2476
White Forelock With Malformations	Deep philtrum, Atrial septal defect, Spina bifida occulta, White forelock, Abnormal palate morpho...	ORPHA:2475
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Third degree atrioventricular block, High palate, Conotruncal defe...	ORPHA:40366
Spondyloepimetaphyseal Dysplasia, Irapa Type	Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Upper limb undergrowt...	OMIM:271650
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, High palate, Aqueductal stenosis, Small hand, Anal atresia, Tracheomalacia...	ORPHA:93260
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thoracic hypoplasia, Ventriculomegaly, Short ribs, Micrognathia, Polycystic kidney dysplasia, Ver...	OMIM:617866
Caudal Duplication	Myelomeningocele, Spina bifida, Vertebral segmentation defect, Renal hypoplasia/aplasia, Abnormal...	ORPHA:1756
Spondyloepiphyseal Dysplasia Congenita	Delayed calcaneal ossification, Bifid uvula, Hip dislocation, Short neck, Ovoid vertebral bodies,...	OMIM:183900
Neurooculocardiogenitourinary Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coloboma, Bilateral cr...	OMIM:618652
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Genu varum, Severe short stature, Scoliosis, Platyspondyly, Postnatal growth retardation	OMIM:618728
Multiple Epiphyseal Dysplasia, Beighton Type	Pedal edema, Biconcave vertebral bodies, Intervertebral space narrowing, Genu valgum, Knee pain, ...	ORPHA:166011
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Sagittal craniosynostosis, Sparse eyebrow, Sparse scalp hair, Enure...	ORPHA:459061
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Multiple lipomas, Abnormal aortic morphology, Alopecia, Ventricu...	ORPHA:2396
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Irregular vertebral endplates, Lumbar scoliosis, Short stature, Lower limb undergrowth, Kyphoscol...	OMIM:612847
Proximal Spinal Muscular Atrophy	Flexion contracture, Multiple joint contractures, Recurrent aspiration pneumonia, Elbow flexion c...	ORPHA:70
Ascher Syndrome	Hypothyroidism, High palate, Abnormal upper lip morphology, Upper eyelid edema, Goiter	ORPHA:1253
Frontorhiny	Camptodactyly of finger, Diabetes insipidus, Encephalocele, Cranium bifidum occultum, Bifid tongu...	ORPHA:391474
Branchioskeletogenital Syndrome	Synophrys, Bifid uvula, Pectus excavatum, Short neck, Amelia involving the lower limbs, Abnormali...	ORPHA:1299
Kleefstra Syndrome 1	Gastroesophageal reflux, Tracheobronchomalacia, Mandibular prognathia, Conotruncal defect, Natal ...	OMIM:610253
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Renal cyst, Multinodular goiter	OMIM:138790
Alagille Syndrome 2	Renal insufficiency, Renal tubular acidosis, Hematuria, Hypertension, Atrial septal defect, Renal...	OMIM:610205
Xp22.3 Microdeletion Syndrome	Sacral dimple, Short stature, Ectopic anus, Polycystic ovaries, Hypogonadotropic hypogonadism	ORPHA:1643
Osteogenesis Imperfecta, Type X	Thoracic hypoplasia, Micrognathia, Short femur, Nephrolithiasis, Dentinogenesis imperfecta, Genu ...	OMIM:613848
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Short toe, Hip osteoarthritis, Abnormality of the wrist, Limitation of joint...	ORPHA:2619
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Short stature, Craniofacial hyperostosis, Optic atrophy	ORPHA:1513
Waardenburg Syndrome Type 1	Meningocele, Cleft upper lip, Mandibular prognathia, Premature graying of hair, Spina bifida, Aga...	ORPHA:894
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Hyperlordosis, Gastroesophageal reflux, Curly hair, High palate, Short stature, Wide mouth, Micro...	OMIM:300986
Mucopolysaccharidosis, Type Iiia	Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Asymmetric septal hypertrophy, Dense ca...	OMIM:252900
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, High palate, Hydrocephalus, Sprengel anomaly, Scoliosis, Abnormal rib morp...	ORPHA:2180
Goldberg-Shprintzen Syndrome	Vesicoureteral reflux, Ventricular septal defect, Limb hypertonia, Small hand, Aganglionic megaco...	OMIM:609460
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Vertebral fusion, Narrow palate, Pollakisuria, High palate, Wide mouth, Deep...	OMIM:227330
Thanatophoric Dysplasia, Type I	Polyhydramnios, Thoracic hypoplasia, Severe platyspondyly, Short ribs, Lethal short-limbed short ...	OMIM:187600
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Bronchiectasis, Hepatosplenomegaly, Carotid artery dilatation, Abnormal intest...	ORPHA:391487
Klippel-Trenaunay-Weber Syndrome	Hand oligodactyly, Arteriovenous fistula, Lymphangioma, Lymphedema	OMIM:149000
Orofaciodigital Syndrome I	Bifid tongue, Median cleft lip, Alveolar ridge overgrowth, Ovarian cyst, Cleft palate, Sparse hai...	OMIM:311200
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Genu valgum, Irregular vertebral endplates, Widely-spaced incisors, Short femoral neck, Oligodont...	OMIM:601668
Omodysplasia 1	Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Micrognathia,...	OMIM:258315
Dysspondyloenchondromatosis	Genu valgum, Joint dislocation, Generalized joint laxity, Short stature, Vertebral segmentation d...	ORPHA:85198
Fibrodysplasia Ossificans Progressiva	Alopecia, Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Widely spaced...	OMIM:135100
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Aortic root aneurysm, Gastroesophageal reflux, Hypothyroidism, Mandibular prognathia, Hyperthyroi...	ORPHA:449291
Systemic Sclerosis	Osteolytic defects of the phalanges of the hand, Flexion contracture, Abnormal large intestine mo...	ORPHA:90291
Bangstad Syndrome	Primary gonadal insufficiency, Retrognathia, Pancytopenia, Severe short stature, Insulin-resistan...	OMIM:210740
Orofaciodigital Syndrome Xi	Gastroesophageal reflux, Hypoplasia of the odontoid process, Kyphoscoliosis, Cleft palate	OMIM:612913
Osteoarthritis With Mild Chondrodysplasia	Irregular vertebral endplates, Short stature, Hip osteoarthritis, Heberden's node, Platyspondyly,...	OMIM:604864
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Abnormality of the ureter, Sparse hair, Abnormal dental enamel morpholog...	ORPHA:3253
Kniest Dysplasia	Genu varum, Hip contracture, Rhizomelia, Hip dislocation, Tracheomalacia, Enlarged joints, Pectus...	OMIM:156550
Congenital Myopathy 11	Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Atrial septal defect, Weakness of...	OMIM:619967
Mucopolysaccharidosis, Type Iiic	Ovoid thoracolumbar vertebrae, Thickened ribs, Hernia, Coarse hair, Synophrys, Asymmetric septal ...	OMIM:252930
Kapur-Toriello Syndrome	Patent ductus arteriosus, Ventricular septal defect, Hypoplasia of penis, Intestinal malrotation,...	ORPHA:2328
Cleidocranial Dysplasia	Delayed eruption of teeth, Micrognathia, Spina bifida occulta, Abnormal rib morphology, Cleft pal...	ORPHA:1452
Congenital Heart Defects, Multiple Types, 3	Right bundle branch block, Atrial septal defect, Abnormal heart morphology, Persistent left super...	OMIM:614954
Autosomal Recessive Stickler Syndrome	Genu valgum, Irregular vertebral endplates, Short stature, Micrognathia, Joint hyperflexibility, ...	ORPHA:250984
Nijmegen Breakage Syndrome	T lymphocytopenia, Bronchiectasis, Micrognathia, Malar prominence, Cleft palate, Thrombocytopenia...	OMIM:251260
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Short stature, Ren...	ORPHA:1770
Pseudodiastrophic Dysplasia	Rhizomelia, Elbow dislocation, Scoliosis, Phalangeal dislocation, Platyspondyly, Malar flattening...	ORPHA:85174
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Acute myelomonocytic leukemia, Ventriculomegaly, Multiple joint contractures, Secundum atrial sep...	ORPHA:99646
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Goiter, Inc...	OMIM:188570
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Kyphosis, Albinism, Hypopigmentation of hair, Platyspondyly, Osteoporosis	ORPHA:2786
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Camptodactyly of finger, Mandibular prognathia, Long philtrum, Tricuspid valve prolapse, Aniridia...	ORPHA:1101
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Parathyroid adenoma, Cardiac rhabdomyoma, Renal angiomyolipoma, S...	ORPHA:805
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopathy, Intestinal bleeding, Anal canal s...	ORPHA:424019
Holoprosencephaly 3	Ventriculomegaly, Bifid uvula, Central diabetes insipidus, Solitary median maxillary central inci...	OMIM:142945
Spinal Dysplasia, Anhalt Type	Thoracolumbar scoliosis, Narrow anterio-posterior vertebral body diameter, Short stature, Spinal ...	OMIM:601344
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Optic disc coloboma, Polyhydramnios, Anal atresia, Intestinal malrotation, Rectovaginal fistula, ...	OMIM:270420
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Abnormal sternum morphology, Ventricul...	ORPHA:2519
Spondylocamptodactyly Syndrome	Camptodactyly of finger, Scoliosis, Platyspondyly	ORPHA:3180
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hyperlordosis, Genu valgum, Anterior rib cupping, Hypoplasia of the odontoid process, Severe shor...	OMIM:184250
Igg4-Related Submandibular Gland Disease	Retroperitoneal fibrosis, Abnormality of the kidney, Enlarged lacrimal glands, Cholangitis, Perio...	ORPHA:449432
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Left ventricular diastolic dysfunction, Pubertal developmental failure i...	ORPHA:740
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Delayed cranial suture closure, Hypothyroidism, Micrognathia, Microdontia, Smooth philtrum, Throm...	OMIM:620005
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum	Agenesis of corpus callosum, Goiter, Primary hypothyroidism	OMIM:225040
Laryngotracheoesophageal Cleft Type 4	Abnormal cardiac septum morphology, Tracheoesophageal fistula, Abnormal lower motor neuron morpho...	ORPHA:93941
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Osteochondritis dissecans, Bifid uvula, Pectus excavatum, Aortic dissect...	ORPHA:284984
Von Willebrand Disease	Abnormal mitral valve morphology, Venous insufficiency	ORPHA:903
Radiation Proctitis	Abnormal gastrointestinal vascular morphology, Abnormality of connective tissue, Abnormal rectum ...	ORPHA:70475
Spondylometaphyseal Dysplasia, Kozlowski Type	Premature osteoarthritis, Disproportionate short-trunk short stature, Delayed epiphyseal ossifica...	ORPHA:93314
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly, Coronary artery fistula, S...	OMIM:620024
Thyroid Dyshormonogenesis 5	Hypothyroidism, Growth delay, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Growth delay, Goiter	OMIM:274800
Burn-Mckeown Syndrome	Cleft upper lip, Mandibular prognathia, Ventricular septal defect, Short stature, Micrognathia, B...	OMIM:608572
Tsh-Secreting Pituitary Adenoma	Hypotension, Enlarged pituitary gland, Pericardial effusion, Ventricular arrhythmia, Supraventric...	ORPHA:91347
Malan Syndrome	Retrognathia, Mandibular prognathia, Ventriculomegaly, Advanced eruption of teeth, Accelerated sk...	OMIM:614753
Magel2-Related Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Flexion contracture, Ventriculomegaly, Small pituitar...	ORPHA:398069
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Heart murmur, Bicuspid aortic valve, Abnormal left ventricular outflow trac...	ORPHA:402075
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Abnormality of the lower urinary tract, Hernia, Abnormal rectum morphology	ORPHA:101009
Spondyloepimetaphyseal Dysplasia, Irapa Type	Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Short metacarpal, Short palm, Sy...	ORPHA:93351
Spondylometaphyseal Dysplasia, A4 Type	Flared, irregular rib ends, Limitation of joint mobility, Severe short stature, Platyspondyly, Mi...	ORPHA:168555
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Pierre-Robin sequence, Premature osteoarthritis, Platyspondyly, Cleft palate, Malar flattening	OMIM:184840
Elsahy-Waters Syndrome	Abnormality of the anus, Delayed eruption of teeth, Synophrys, Bifid uvula, Pectus excavatum, Thi...	OMIM:211380
Al Kaissi Syndrome	Sacral dimple, Long philtrum, Short stature, Small hand, Synophrys, Torticollis, Macrodontia, Atr...	OMIM:617694
Wiedemann-Rautenstrauch Syndrome	Delayed closure of the anterior fontanelle, Flexion contracture, Hypoplasia of the thymus, Delaye...	OMIM:264090
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Flexion contracture, Ankle clonus, Talipes valgus, Short stature, Brittle h...	OMIM:618891
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hip subluxation, Reduced pancreatic beta cells, Irregular carpal bones, Hip dislocation, Ivory ep...	OMIM:226980
Frontoocular Syndrome	High palate, Coronal craniosynostosis, Micrognathia, Narrow philtrum, Atrial septal defect, Pectu...	OMIM:605321
Visceral Myopathy 2	Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega...	OMIM:619350
Wolfram Syndrome 1	Cardiomyopathy, Hypothyroidism, Diabetes insipidus, Megaloblastic anemia, Optic atrophy, Neurogen...	OMIM:222300
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Gastroesophageal reflux, Ventricular septal defect, Increased size of n...	OMIM:619769
Pseudo-Torch Syndrome 2	Patent ductus arteriosus, Ventriculomegaly, Cerebral hemorrhage, Petechiae, Lateral ventricle dil...	OMIM:617397
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Multicentric Osteolysis, Nodulosis, And Arthropathy	Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed eruption of teeth,...	OMIM:259600
Melioidosis	Septic arthritis, Respiratory tract infection, Abnormal parotid gland morphology, Hepatitis, Live...	ORPHA:31202
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick upper lip vermilion, Diabetes insipidus, Polyhydramnios, Ventriculomegaly, Wide mouth, Thic...	OMIM:611087
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Kyphosis, Cellulitis, Disti...	OMIM:153400
Pten Hamartoma Tumor Syndrome	Thyroid carcinoma, Abnormal cerebral vein morphology, Renal cell carcinoma, Abnormality of the ki...	ORPHA:306498
16P12.1P12.3 Triplication Syndrome	Retrognathia, Decreased response to growth hormone stimulation test, Long philtrum, Wide mouth, H...	ORPHA:485405
Dyggve-Melchior-Clausen Disease	Hypoplastic facial bones, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bod...	OMIM:223800
Papillorenal Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Short stature, Retinal coloboma, Stage 5 chr...	OMIM:120330
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome	Short stature, Craniosynostosis, Ectopic anus	ORPHA:2866
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Spinal dysraphism, Scoliosis, Venous malformation, Lipoma, Renal hypoplasia, Sple...	OMIM:612918
Singleton-Merten Syndrome 1	Subvalvular aortic stenosis, Osteolytic defects of the phalanges of the hand, Hip subluxation, Mu...	OMIM:182250
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Generalized lymphadenopathy, Pleural effusion, Hepatomegaly, Cerv...	ORPHA:50918
Cardiofaciocutaneous Syndrome 3	Curly hair, Ventricular septal defect, Short stature, Wide mouth, Atrial septal defect, Pectus ex...	OMIM:615279
Isolated Anencephaly	Maternal diabetes, Congenital diaphragmatic hernia, Cleft lip, Omphalocele, Thymus hyperplasia, I...	ORPHA:563609
Mucopolysaccharidosis Type 6	Splenomegaly, Genu valgum, Hernia, Kyphosis, Thick lower lip vermilion, Macroglossia, Short neck,...	ORPHA:583
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular atrophy, Aminoaciduria, Micrognathia, Reduced renal corticomedullary differentiatio...	OMIM:208085
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, High palate, Short stature, Decreased testicular size, Hypoplasia of the...	ORPHA:85279
Lathosterolosis	Meningocele, High palate, Long philtrum, Micrognathia, Anisopoikilocytosis, Hypoplasia of penis, ...	ORPHA:46059
Pendred Syndrome	Compensated hypothyroidism, Thyroid carcinoma, Goiter	OMIM:274600
Thoraco-Abdominal Enteric Duplication	Meningocele, Camptodactyly of finger, Missing ribs, Duodenal stenosis, Intestinal malrotation, De...	ORPHA:1759
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Clef...	OMIM:618469
Thyroid Dyshormonogenesis 2A	Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T...	OMIM:274500
Craniosynostosis, Herrmann-Opitz Type	Short stature, Craniosynostosis, Micrognathia, Abnormality of the upper urinary tract, Aplasia/Hy...	ORPHA:2145
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis, Goiter	OMIM:617175
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Short foot, Wide mouth, Synophrys, Nail dystrophy, Downturned corners of mouth, Short neck, Hirsu...	OMIM:300860
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Micrognathia, Maternal diabetes, Delayed ossification of carpal ...	ORPHA:93346
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Biconcave vertebral bodies, Recurrent fractures, Short stature, Hypere...	OMIM:610967
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu...	ORPHA:67045
Split-Hand/Foot Malformation 3	High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Renal hyp...	OMIM:246560
Silver-Russell Syndrome 1	Nephroblastoma, Delayed cranial suture closure, Decreased response to growth hormone stimulation ...	OMIM:180860
Sponastrime Dysplasia	Hip subluxation, Hypothyroidism, Precocious puberty, Microdontia, Hip dislocation, Ivory epiphyse...	ORPHA:93357
Thyroid Cancer, Nonmedullary, 1	Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter	OMIM:188550
Pfeiffer Syndrome Type 2	High palate, Aqueductal stenosis, Short foot, Small hand, Hydrocephalus, Anal atresia, Tracheomal...	ORPHA:93259
Cutis Laxa, Autosomal Recessive, Type Iid	Retrognathia, Ascending tubular aorta aneurysm, Right bundle branch block, Pneumothorax, Hypoplas...	OMIM:617403
Trichohepatoenteric Syndrome 1	Polyhydramnios, Bifid uvula, Galactosuria, Hepatomegaly, Renal cortical microcysts, Sparse hair, ...	OMIM:222470
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Pseudobulbar paralysis, Supernumerary nipple, Tricuspid regurgitation, Patent foramen ovale, Abno...	ORPHA:466791
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Polyhydramnios, Abnormal mandible morphology, Prominence of the zygomati...	ORPHA:2215
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Spinal dysraphism, Short stature, Absence of the sacrum, Mitral stenosis, ...	OMIM:617660
Neural Tube Defects, Susceptibility To	Sacral dimple, Urinary incontinence, Multiple lipomas, Myelomeningocele, Absence of the sacrum, A...	OMIM:182940
Vertebral Hypersegmentation And Orofacial Anomalies	Micrognathia, Supernumerary ribs, Widow's peak, Submucous cleft hard palate, Supernumerary nipple...	OMIM:619122
Neu-Laxova Syndrome	Polyhydramnios, Flexion contracture, Ventriculomegaly, Micrognathia, Bifid uvula, Pulmonary hypop...	ORPHA:2671
Surfactant Metabolism Dysfunction, Pulmonary, 1	Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti...	OMIM:265120
Microphthalmia, Lenz Type	Camptodactyly of finger, Hyperlordosis, Kyphosis, Short stature, Renal hypoplasia/aplasia, Hydrou...	ORPHA:568
Pituitary Hormone Deficiency, Combined, 6	Decreased circulating follicle stimulating hormone concentration, Short stature, Decreased circul...	OMIM:613986
Acromesomelic Dysplasia 4	Synophrys, Beaking of vertebral bodies, Thick eyebrow, Thoracic platyspondyly, Lumbar hyperlordos...	OMIM:619636
Developmental And Epileptic Encephalopathy 66	Anemia, Ventricular septal defect, Macrodontia of permanent maxillary central incisor, Widely spa...	OMIM:618067
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Anterior beaking of lumbar vertebrae, Platyspondyly	OMIM:271620
Peutz-Jeghers Syndrome	Oral melanotic macule, Labial melanotic macule, Intussusception, Gastrointestinal carcinoma, Mult...	OMIM:175200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Nephroblastoma, Chronic neutropenia, Abnormal right ventricle morphology, Bifid ureter, Ventricul...	ORPHA:500095
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair, Short stature, Hypogonadism, Decreased testicular size, Type II diabetes mellit...	ORPHA:2234
Ehlers-Danlos Syndrome, Vascular Type	Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Pneumothorax, Finger joint ...	OMIM:130050
Angioosteohypotrophic Syndrome	Upper limb undergrowth, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Abnormality of the pancreas, Narrow palate, Optic atrophy, Hydrocephalus, Hypertension, Anteriorl...	ORPHA:1555
Spondyloepiphyseal Dysplasia Congenita	Micrognathia, Short femur, Short neck, Aplasia/hypoplasia involving bones of the extremities, Cle...	ORPHA:94068
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Wide mouth, Short foot, Micrognathia, Hydrocephalus, Short philtrum, P...	ORPHA:163966
Milroy Disease	Pedal edema, Cellulitis, Lymphedema, Predominantly lower limb lymphedema, Hydrocele testis, Ankle...	ORPHA:79452
Acrodysostosis	Short toe, Mandibular prognathia, Hypogonadism, Short stature, Delayed eruption of teeth, Short m...	ORPHA:950
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:601820
Dihydropyrimidinase Deficiency	Growth delay, Anal atresia, Uraciluria	OMIM:222748
Indomethacin Embryofetopathy	Multicystic kidney dysplasia, Hydrops fetalis, Ventricular septal defect, Abnormal renal tubule m...	ORPHA:1909
Multisystemic Smooth Muscle Dysfunction Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Common carotid artery aneurysm, Aortic...	OMIM:613834
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, High palate, Semilobar holopros...	ORPHA:556955
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Abnormality of the pancreas, Hydrops fetalis, Lym...	ORPHA:1318
Schneckenbecken Dysplasia	Polyhydramnios, Short ribs, Lymphedema, Accelerated skeletal maturation, Micromelia, Hypoplastic ...	ORPHA:3144
Renal Agenesis	Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Bilateral renal agenesis, Rena...	ORPHA:411709
Familial Colorectal Cancer Type X	Pancreatic adenocarcinoma, Stomach cancer, Flexion contracture, Malabsorption, Neoplasm of the re...	ORPHA:440437
Monosomy 9Q22.3	Nephroblastoma, Odontogenic keratocysts of the jaw, Ventriculomegaly, Kyphosis, Delayed eruption ...	ORPHA:77301
Short Stature, Brussels Type	Short stature, Microretrognathia, Growth delay, Horseshoe kidney, Narrow chest, Delayed epiphysea...	ORPHA:2867
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Patent foramen ovale, Sparse eyebrow, Curly hair, Long philtrum, Lateral ventricle dilatation, Wi...	OMIM:620075
Atelosteogenesis, Type Iii	Horizontal sacrum, Rhizomelia, Micrognathia, Cervical kyphosis, Flat acetabular roof, Elbow dislo...	OMIM:108721
Asymmetric Short Stature Syndrome	Lumbar scoliosis, Fused cervical vertebrae, Micrognathia, Asymmetric short stature, Dental crowdi...	OMIM:108450
Leprechaunism	Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Enlarged kidney, Thick vermilion bo...	ORPHA:508
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Multiple lipomas, Abnormal cerebral vascular morphology, Enlarged kidney, Hydroce...	ORPHA:276280
Joubert Syndrome 38	Decreased response to growth hormone stimulation test, Short stature, Small pituitary gland, Ecto...	OMIM:619476
Fountain Syndrome	Kyphosis, Short stature, Spina bifida, Thick lower lip vermilion, Wide mouth, Synophrys, Craniofa...	ORPHA:3219
Autoimmune Polyendocrinopathy Type 3	Biliary cirrhosis, Primary adrenal insufficiency, Celiac disease, Graves disease, Aplasia/Hypopla...	ORPHA:227982
Chime Syndrome	Microdontia, Hip dislocation, Osteolysis, Cleft palate, Short palm, Sparse hair, Ventricular sept...	ORPHA:3474
Mosaic Trisomy 8	Camptodactyly of finger, Vesicoureteral reflux, High palate, Patellar aplasia, Short stature, Nar...	ORPHA:96061
Tyshchenko Syndrome	Polyhydramnios, Narrow palate, Ventricular septal defect, High palate, Short stature, Intrauterin...	OMIM:615102
Brachyolmia Type 2	Short stature, Platyspondyly	OMIM:613678
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Maternal diabetes, Atrial septal defec...	ORPHA:2248
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Short stature, Increased bone mineral density, Macroglossia, Pectus exca...	ORPHA:1798
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Alopecia, High palate, Osteomyelitis, Bronchiectasis, Micrognathia, Spinal canal stenosis, Recurr...	OMIM:618282
Holoprosencephaly, Semilobar, With Craniosynostosis	Coronal craniosynostosis, Semilobar holoprosencephaly, Hypoplastic vertebral bodies, Short distal...	OMIM:601370
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Volvulus, Decreased testicular size, Abnormal ...	ORPHA:335
Semilobar Holoprosencephaly	Central hypothyroidism, Flexion contracture, Bifid uvula, Hip dislocation, Median cleft lip, Cycl...	ORPHA:220386
Alobar Holoprosencephaly	Central hypothyroidism, Flexion contracture, Bifid uvula, Hip dislocation, Median cleft lip, Cycl...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central hypothyroidism, Flexion contracture, Bifid uvula, Hip dislocation, Median cleft lip, Cycl...	ORPHA:93926
Lobar Holoprosencephaly	Central hypothyroidism, Flexion contracture, Bifid uvula, Hip dislocation, Median cleft lip, Cycl...	ORPHA:93924
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion, Severe platyspondyly, Rhizomelia, Short metacarpal, Short finger, Cupped rib...	OMIM:608940
Autoimmune Polyendocrinopathy Type 4	Biliary cirrhosis, Primary adrenal insufficiency, Celiac disease, Graves disease, Aplasia/Hypopla...	ORPHA:227990
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals, Platyspondyly	OMIM:269630
Morquio Syndrome C	Severe short stature, Platyspondyly	OMIM:252300
Spondyloenchondrodysplasia With Immune Dysregulation	Hypothyroidism, T lymphocytopenia, Recurrent sinusitis, Pneumonia, Sclerosis of skull base, Lumba...	OMIM:607944
Jeune Syndrome	Abnormal sternum morphology, Short thorax, Abnormality of the liver, Short stature, Narrow chest,...	ORPHA:474
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m...	ORPHA:1455
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Long philtrum, Short stature, ...	OMIM:171480
Megalencephaly	Macroorchidism, Genu valgum, Atrial septal defect, Long penis, Short neck, Delayed skeletal matur...	ORPHA:2477
Johnson Neuroectodermal Syndrome	Alopecia, Hypogonadism, Absent eyelashes, Everted lower lip vermilion, Severe short stature, Abse...	ORPHA:2316
Coccidioidomycosis	Exudative pleural effusion, Abnormality of the bladder, Pericarditis, Osteolysis, Eosinophilia, P...	ORPHA:228123
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C3/C4 vertebral fusion, Iris coloboma, Chorioretinal coloboma, Thoracic scoliosis, Cervi...	OMIM:613702
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Pulmonary arterial hypertension, Urinary incontinence, Gastroesophageal reflux, Wide anterior fon...	OMIM:616482
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Alkaptonuria	Mitral valve calcification, Aminoaciduria, Joint dislocation, Thickened Achilles tendon, Atherosc...	ORPHA:56
Radial Aplasia, X-Linked	Anal atresia, Penile hypospadias, Hydrocephalus, Absent radius	OMIM:312190
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema	OMIM:314600
Otospondylomegaepiphyseal Dysplasia	Polyhydramnios, Short metacarpal, Micrognathia, Osteoarthritis, Bifid uvula, Abnormal vertebral m...	ORPHA:1427
Penile Agenesis	Absent penis, Urethral fistula, Pulmonary hypoplasia, Abnormality of the bladder, Rectal fistula,...	ORPHA:49
Stickler Syndrome	Micrognathia, Hip dislocation, Tooth agenesis, Cleft palate, Glossoptosis, Abnormal form of the v...	ORPHA:828
Gurrieri Syndrome	Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Delayed s...	OMIM:601187
Thyroid Lymphoma	Hypothyroidism, Hyperthyroidism, Hashimoto thyroiditis, Lymphadenopathy, Dysphagia, Goiter	ORPHA:97285
Congenital Disorder Of Glycosylation, Type Iiw	Micrognathia, Pectus excavatum, Hepatic steatosis, Bleeding with minor or no trauma, Hepatomegaly...	OMIM:619525
Familial Adenomatous Polyposis	Hypothyroidism, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ch...	ORPHA:733
Mucolipidosis Type Ii	Hip dislocation, Hepatosplenomegaly, Telangiectases of the cheeks, Prominent metopic ridge, Gingi...	ORPHA:576
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Hyperlordosis, Low anterior hairline, Narrow palate, Optic atroph...	ORPHA:794
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Aminoaciduria, Systolic heart murmur, Micrognathia, Portal inflammat...	OMIM:619991
Carpenter Syndrome 2	Camptodactyly, Supernumerary nipple, Pectus excavatum, Short neck, Tricuspid regurgitation, Narro...	OMIM:614976
Lethal Congenital Contracture Syndrome Type 1	Polyhydramnios, Recurrent fractures, Short stature, Abnormality of the elbow, Micrognathia, Pulmo...	ORPHA:1486
Sirenomelia	Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Anal atresia, Tracheoesophageal fi...	ORPHA:3169
Thyroid Cancer, Nonmedullary, 4	Papillary thyroid carcinoma, Goiter, Ovarian neoplasm	OMIM:616534
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Aqueductal stenosis, Micrognathia, Pulmonary hypoplasia, Lower limb undergrowth, Int...	ORPHA:3035
Solitary Rectal Ulcer Syndrome	Anemia, Stercoral ulcer, Anal fissure, Hematochezia, Rectal prolapse	ORPHA:209964
Pseudoxanthoma Elasticum	Retinal hemorrhage, White oral mucosal macule, Restrictive cardiomyopathy, Optic disc drusen, Acc...	OMIM:264800
Thyroid Hormone Plasma Membrane Transport Defect	Goiter, Euthyroid hyperthyroxinemia	OMIM:188560
Deiodinase, iodothyronine, type I	Goiter, Euthyroid hyperthyroxinemia	OMIM:147892
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Joint stiffness, Agenesis of corpus callosum	ORPHA:2182
Platyspondylic Dysplasia, Torrance Type	Genu varum, Polyhydramnios, Short thorax, Hydrops fetalis, Abnormal carpal morphology, Short foot...	ORPHA:85166
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Long philtrum, Joint contracture of the hand, Spina bifida, Mitral valve prolapse, Camptodactyly,...	OMIM:211960
Spondyloepiphyseal Dysplasia, Maroteaux Type	Genu valgum, Platyspondyly	OMIM:184095
Crouzon Syndrome	Sagittal craniosynostosis, Mandibular prognathia, High palate, Abnormality of the cervical spine,...	OMIM:123500
Yunis-Varon Syndrome	Polyhydramnios, Absent thumb, Short 2nd finger, Micrognathia, Hypoplastic facial bones, Hip dislo...	OMIM:216340
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Ventriculomegaly, Recurrent respiratory infections, Severe short stature, Down...	ORPHA:2643
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	Widely-spaced incisors, Optic atrophy, Synophrys, Hypoplasia of the maxilla, Thin upper lip vermi...	OMIM:618737
Primary Non-Essential Cutis Verticis Gyrata	Keloids, Scoliosis, Atrial septal defect, Ventricular septal defect	ORPHA:357225
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Micrognathia, Microdontia, Abnormal optic disc morphology, Short hallux, Short pal...	ORPHA:363417
Blepharochalasis And Double Lip	Blepharochalasis, Duplication of the upper lip, Goiter	OMIM:109900
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short toe, Short 5th metacarpal, Short stature, Thin upper lip vermilion, Short distal phalanx of...	ORPHA:370010
Autosomal Dominant Polycystic Kidney Disease	Nephrolithiasis, Aortic root aneurysm, Stage 5 chronic kidney disease, Enlarged kidney, Pyeloneph...	ORPHA:730
Desbuquois Dysplasia 2	Advanced ossification of carpal bones, Synophrys, Bifid uvula, Hip dislocation, Pectus excavatum,...	OMIM:615777
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Polyhydramnios, Aplasia/Hypoplasia of the tongue, Recurrent respiratory...	ORPHA:1790
Fraser Syndrome 1	Abnormality of the anus, Pulmonary hypoplasia, Extension of hair growth on temples to lateral eye...	OMIM:219000
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Ventricular septal defect, Rectoperineal fistula, Coarctation of aorta, Hyp...	OMIM:618748
Prader-Willi Syndrome	Central hypothyroidism, Precocious puberty, Ventriculomegaly, Small pituitary gland, Increased su...	ORPHA:739
Rhabdomyosarcoma, Embryonal, 2	Nephroblastoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Ovaria...	OMIM:180295
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect	OMIM:601322
Gaucher Disease	Ventriculomegaly, Increased bone mineral density, Osteolysis, Delayed skeletal maturation, Hepato...	ORPHA:355
Hamamy Syndrome	Neck pterygia, Micrognathia, Pectus excavatum, Everted lower lip vermilion, Hypoparathyroidism, S...	OMIM:611174
Radial-Renal Syndrome	Absent thumb, Short stature, Unilateral renal agenesis, Ectopic kidney, Absent radius	OMIM:179280
Sarcoidosis	Abnormal lymph node morphology, Hypothyroidism, Pneumothorax, Bronchiectasis, Scarring, Heart blo...	ORPHA:797
Lynch Syndrome	Pancreatic adenocarcinoma, Flexion contracture, Malabsorption, Neoplasm of the rectum, Neoplasm o...	ORPHA:144
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Diabetes insipidus, High palate, Long philtrum, Semilobar holoprosencephaly, ...	OMIM:618500
Dyggve-Melchior-Clausen Disease	Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma...	ORPHA:239
Carney Complex	Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Hepatocellular carcinoma, Dors...	ORPHA:1359
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Hydrocephalus, Distal shortening of limbs, Decreased...	OMIM:300863
Townes-Brocks Syndrome 2	Vesicoureteral reflux, Crossed fused renal ectopia, Anal atresia, Spina bifida occulta, Hypospadi...	OMIM:617466
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Ventricular septal defect, Coronary sinus enlargement, Short stature, Long ...	OMIM:619268
Mosaic Variegated Aneuploidy Syndrome 3	Nephroblastoma, Short stature, Growth delay, Horseshoe kidney, Cleft palate, Arthrogryposis multi...	OMIM:617598
Coffin-Siris Syndrome 5	Dystrophic toenail, Sparse scalp hair, Low anterior hairline, Short stature, Wide mouth, Thick lo...	OMIM:616938
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Flat acetabular roof, Delayed ossification of carpal bones, Dispro...	OMIM:609616
Thanatophoric Dysplasia, Type Ii	Polyhydramnios, Short ribs, Lethal short-limbed short stature, Wide-cupped costochondral junction...	OMIM:187601
Spastic Paraplegia 16, X-Linked	Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ...	OMIM:300266
African Iron Overload	Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ...	ORPHA:139507
Schinzel-Giedion Midface Retraction Syndrome	Ventriculomegaly, Hepatoblastoma, Short neck, Sclerosis of skull base, Postnatal growth retardati...	OMIM:269150
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Short stature, Atrial septal defe...	ORPHA:52056
Meckel Syndrome, Type 7	Patent ductus arteriosus, Pancreatic cysts, Biliary cirrhosis, Multicystic kidney dysplasia, Stag...	OMIM:267010
8Q22.1 Microdeletion Syndrome	Camptodactyly of finger, Sparse eyebrow, Long philtrum, Hypogonadism, Submucous cleft hard palate...	ORPHA:178303
Pseudoachondroplasia	Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extension, Beaking of vertebral b...	OMIM:177170
Buratti-Harel Syndrome	Gastroesophageal reflux, High palate, Dilation of Virchow-Robin spaces, Velopharyngeal insufficie...	OMIM:619314
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Short metatarsal, Abnormal hip joint morphology, Abnormality of the vertebral endplates, Hypoplas...	ORPHA:1856
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Congenital diaphragmatic hernia, ...	ORPHA:63260
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, High palate, Short stature, Microdontia, Abnormality of the ankl...	ORPHA:1307
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Moderately short stature, Flexion contracture, Short femoral neck, Bruising susceptibility, Thena...	ORPHA:157965
Spondyloepiphyseal Dysplasia, Kimberley Type	Short thorax, Platyspondyly, Micromelia, Proportionate short stature, Osteoarthritis	ORPHA:93283
Neurofibromatosis, Type I	Spinal neurofibromas, Genu valgum, Aqueductal stenosis, Parathyroid adenoma, Short stature, Spina...	OMIM:162200
Gjc2-Related Late-Onset Primary Lymphedema	Pedal edema, Cellulitis, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Venou...	ORPHA:568051
46,Xx Sex Reversal 5	Urogenital sinus anomaly, Increased serum testosterone level, Ventricular septal defect, Secundum...	OMIM:618901
Genitopatellar Syndrome	Knee flexion contracture, Gastroesophageal reflux, Multicystic kidney dysplasia, Hip contracture,...	ORPHA:85201
Bruck Syndrome 1	Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac...	OMIM:259450
Acces Syndrome	Retrognathia, Sparse scalp hair, Hip dislocation, Supernumerary nipple, Tracheoesophageal fistula...	OMIM:619959
Cerebrocostomandibular Syndrome	Meningocele, Bell-shaped thorax, Multicystic kidney dysplasia, Myelomeningocele, Ventricular sept...	ORPHA:1393
Ollier Disease	Anemia, Precocious puberty, Micromelia, Osteolysis, Platyspondyly, Joint stiffness, Lymphangioma,...	ORPHA:296
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ventriculomegaly, Renal dysplasia, Hydromyelia, Butterfly vertebrae, Hip dislocation, Cleft palat...	OMIM:308205
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Elbow flexion contracture, Flat acetabular roof, Delayed ossi...	OMIM:184252
Enthesitis-Related Juvenile Idiopathic Arthritis	Sacroiliac arthritis, IgA deposition in the glomerulus, Hip osteoarthritis, Abnormality of the wr...	ORPHA:85438
Leopard Syndrome 1	Subvalvular aortic stenosis, Pectus excavatum, Spina bifida occulta, Hypertrophic cardiomyopathy,...	OMIM:151100
Noonan Syndrome 11	Short stature, Atrial septal defect, Pectus excavatum, Hypertrophic cardiomyopathy, Pulmonic sten...	OMIM:618499
Van Der Woude Syndrome	Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Noonan Syndrome 3	Patent ductus arteriosus, Patent foramen ovale, Sagittal craniosynostosis, Polyhydramnios, High p...	OMIM:609942
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Ventricular Septal Defect 3	Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614432
Spondyloocular Syndrome	Duodenal ulcer, Short stature, Lymphedema, Dysplastic aortic valve, Mitral valve prolapse, Atrial...	OMIM:605822
Cardioacrofacial Dysplasia 1	Conical tooth, Atrioventricular canal defect, Genu valgum, Short philtrum, Long thorax, Diastema,...	OMIM:619142
Familial Congenital Mirror Movements	Hypogonadotropic hypogonadism, Fused cervical vertebrae, Agenesis of corpus callosum	ORPHA:238722
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Ventricular septal defect, Atrial septal defect	OMIM:614249
Craniolenticulosutural Dysplasia	High palate, Long philtrum, Short stature, Delayed eruption of teeth, Wide mouth, Posterior wedgi...	ORPHA:50814
Meier-Gorlin Syndrome 3	Micrognathia, Absent sternal ossification, Delayed skeletal maturation, Aplasia/Hypoplasia of the...	OMIM:613803
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Decreased circulating T4 concentration, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Polycystic ...	OMIM:610199
Neonatal Marfan Syndrome	Aortic root aneurysm, Enlarged thorax, Ascending tubular aorta aneurysm, Pectus carinatum, Flexio...	ORPHA:284979
Nail-Patella Syndrome	Biceps aplasia, Patellar dislocation, Triceps aplasia, Pectus excavatum, Glomerulonephritis, Limi...	OMIM:161200
Bent Bone Dysplasia Syndrome 2	Short sternum, Short tibia, Hypoplastic acetabulae, Short 1st metacarpal, Short ribs, Short lower...	OMIM:620076
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ...	OMIM:611134
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Distichiasis, Peripheral arteri...	OMIM:126320
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Thick upper lip vermilion, Flexion contracture, Thoracic hypoplasia, Rhizo-meso-acromelic limb sh...	OMIM:611717
Multiple Synostoses Syndrome 2	Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp...	OMIM:610017
Telangiectasia, Hereditary Hemorrhagic, Type 4	Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Palate tel...	OMIM:610655
Mohr Syndrome	Lobulated tongue, Bifid tongue, High palate, Short stature, Tongue nodules, Micrognathia, Hydroce...	OMIM:252100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Polyhydramnios, Aplasia/Hypoplasia of the tongue, Abnormal lip morph...	ORPHA:2759
Multiple Synostoses Syndrome 1	Thick upper lip vermilion, Pectus excavatum, Dislocated radial head, Short hallux, Proximal/middl...	OMIM:186500
Geroderma Osteodysplastica	Biconcave vertebral bodies, Mandibular prognathia, Hernia, Recurrent fractures, Abnormal bone oss...	ORPHA:2078
Congenital Aortic Valve Stenosis	Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,...	ORPHA:3093
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn...	ORPHA:2064
Achondrogenesis, Type Ia	Polyhydramnios, Pulmonary hypoplasia, Unossified vertebral bodies, Abnormal hand bone ossificatio...	OMIM:200600
Pendred Syndrome	Hypothyroidism, Thyroid carcinoma, Nephropathy, Hyperparathyroidism, Goiter	ORPHA:705
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Increased susceptibility to fractures, Otosclerosis, Recurrent fractur...	OMIM:166200
Gorlin-Chaudhry-Moss Syndrome	Patent ductus arteriosus, Short stature, Coronal craniosynostosis, Oligodontia, Hypoplasia of the...	ORPHA:2095
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Polyhydramnios, Thoracic hypoplasia, Severe platyspondyly, Rhizomelia, Short ribs, Decreased cran...	OMIM:151210
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le...	OMIM:613239
Osteolysis Syndrome, Recessive	Knee flexion contracture, Short stature, Elbow flexion contracture, Hypoplasia of the maxilla, Me...	OMIM:259610
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Flexion contracture, Pierre-Robin sequence, Short 5th metacarpal, Short stature, Micrognathia, En...	OMIM:215150
Lipodystrophy, Familial Partial, Type 7	Pulmonary arterial hypertension, Recurrent pancreatitis, Sparse scalp hair, Lower limb muscle wea...	OMIM:606721
Amish Lethal Microcephaly	Cleft soft palate, Ventriculomegaly, Optic atrophy, Spina bifida, Micrognathia, Limb hypertonia, ...	ORPHA:99742
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hyperthyroidism, Rhabdomyolysis, Palpitations, Tachycardia, Goiter	OMIM:188580
Fibrochondrogenesis 2	Bell-shaped thorax, Thoracic hypoplasia, Short ribs, Micrognathia, Cupped ribs, Platyspondyly, Ma...	OMIM:614524
Immunodeficiency 110 With Lymphoproliferation	Neutropenia, Lymphopenia, Atrial septal defect	OMIM:614868
Osteogenesis Imperfecta, Type Ii	Bell-shaped thorax, Thoracic hypoplasia, Pulmonary insufficiency, Recurrent fractures, Congestive...	OMIM:166210
3Q29 Microduplication Syndrome	High palate, Ventricular septal defect, Ectopic anus, Deep philtrum, Camptodactyly of toe, Iris c...	ORPHA:251038
Temple-Baraitser Syndrome	Gastroesophageal reflux, Long philtrum, Wide mouth, Atrial septal defect, Downturned corners of m...	OMIM:611816
15Q14 Microdeletion Syndrome	Ventricular septal defect, Kyphosis, Short stature, Long philtrum, Short philtrum, Atrial septal ...	ORPHA:261190
17Q12 Microduplication Syndrome	Polyhydramnios, Synophrys, Abnormal vertebral morphology, Atrial septal defect, Tracheoesophageal...	ORPHA:261272
Van Den Ende-Gupta Syndrome	Micrognathia, Elbow flexion contracture, Pectus excavatum, Everted lower lip vermilion, Dislocate...	OMIM:600920
Atrial Septal Defect 2	Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal...	OMIM:607941
Grant Syndrome	Joint dislocation, Short stature, Narrow chest, Micrognathia, Abnormality of the glenoid fossa, S...	ORPHA:2097
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism, Venous insufficiency, Purpura, Abnormal cerebral vascular morphology	ORPHA:745
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Micrognathia, Hypodontia, Aplasia...	ORPHA:989
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Limb pain, Abnormal left ventricular function, Palpitations, Papilledem...	ORPHA:892
Thauvin-Robinet-Faivre Syndrome	Nephroblastoma, Pedal edema, Bifid ureter, Ventricular septal defect, Coloboma, Renal dysplasia, ...	OMIM:617107
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism, Subcutaneous hemorrhage, Abnormal cerebral vascular morphology, Purpura, Veno...	ORPHA:743
Wiskott-Aldrich Syndrome	Sudden cardiac death, Glomerulopathy, Hypoplasia of the thymus, Prolonged bleeding time, Hemateme...	ORPHA:906
Hartsfield Syndrome	Diabetes insipidus, Hypoplasia of the frontal bone, Cleft upper lip, Gonadotropin deficiency, Sem...	OMIM:615465
Lumbar Syndrome	Vesicoureteral reflux, Renal duplication, Myelomeningocele, Ectopic anus, Spina bifida, Renal age...	ORPHA:83628
Hall-Riggs Syndrome	Thick hair, Short stature, Delayed eruption of teeth, Wide mouth, Thick vermilion border, Coarse ...	ORPHA:2107
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormality of the kidney, Vertebral segmentation defect, Unilateral renal agen...	ORPHA:3109
Geroderma Osteodysplasticum	Increased susceptibility to fractures, Biconcave vertebral bodies, Irregular vertebral endplates,...	OMIM:231070
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Spinal neurofibromas, Micrognathia, Pectus excavatum, Hypertrophic cardiomyopathy, Patent foramen...	ORPHA:363700
Mckusick-Kaufman Syndrome	Pedal edema, Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Aganglionic megacol...	OMIM:236700
Thoracic Outlet Syndrome	Abnormal rib morphology, Edema, Varicose veins	ORPHA:97330
Glutaric Aciduria Iii	Hypertension, Hyperthyroidism, Glutaric aciduria, Goiter	OMIM:231690
Osteogenesis Imperfecta, Type Xvi	Rhizomelia, Short stature, Recurrent fractures, Narrow chest, Multiple rib fractures, Bruising su...	OMIM:616229
Split Cord Malformation	Meningocele, Hydromyelia, Low back pain, Butterfly vertebrae, Cervical spina bifida, Lipomyelomen...	ORPHA:573278
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short stature, Delayed eruption of teeth, Short philtrum, Platyspondyl...	ORPHA:71267
Atelosteogenesis Type Iii	Short tibia, Polyhydramnios, Thoracic hypoplasia, Vertebral hypoplasia, Abnormal cervical curvatu...	ORPHA:56305
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Irregular vertebral endplates, Patellar dislocation, Short stature, Multiple joint dislocation, S...	OMIM:618395
Crimean-Congo Hemorrhagic Fever	Hypotension, Hemoperitoneum, Pericardial effusion, Adrenal insufficiency, Tachycardia, Abnormal l...	ORPHA:99827
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Stomatitis, Osteolysis, Osteopenia, Hepato...	OMIM:612852
Transketolase Deficiency	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Increased level of rib...	ORPHA:488618
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Secondary growth hormone deficien...	ORPHA:2495
Warsaw Breakage Syndrome	High palate, Ventricular septal defect, Wide mouth, Tetralogy of Fallot, Optic disc coloboma, Int...	OMIM:613398
Neurocardiofaciodigital Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Dilated fourth ventricle, Retrognathia, High pal...	OMIM:619869
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Intestinal perforation, Anuria, Acute kidney injury, Hemoglobinuria, Intussusception, Peritonitis...	ORPHA:90038
Denys-Drash Syndrome	Nephroblastoma, Neonatal death, Wide anterior fontanel, Nephrotic syndrome, Stage 5 chronic kidne...	OMIM:194080
Metaphyseal Chondrodysplasia, Schmid Type	Osteosclerosis of ribs, Genu varum, Irregular vertebral endplates, Anterior rib cupping, Abnormal...	ORPHA:174
Osteogenesis Imperfecta, Type Xvii	Decreased muscle mass, Short stature, Vertebral compression fracture, Scoliosis, Platyspondyly, I...	OMIM:616507
Non-Syndromic Anorectal Malformation	Anorectal anomaly, Myelomeningocele, Ectopic anus, Hemisacrum, Persistent cloaca, Anal atresia, H...	ORPHA:557
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the gastrointestinal tract, Microg...	ORPHA:1587
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Micrognathia, Atrial septal defect, Hypoplasia of the maxilla, Accessory oral fren...	ORPHA:79113
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Thoracic hypoplasia, Flat acetabular roof, Micromelia, Pectus excavatum, Posterior rib cupping, D...	OMIM:608728
Beta-Ureidopropionase Deficiency	Bladder exstrophy, Anal atresia, Scoliosis	OMIM:613161
Ramos-Arroyo Syndrome	Patent ductus arteriosus, High anterior hairline, Sparse scalp hair, Long philtrum, Abnormal auto...	ORPHA:1051
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Irregular vertebral endplates, Knee pain, Avascular necrosis of the capital femoral epiphysis, Ch...	OMIM:184100
Holt-Oram Syndrome	Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Abnormal carpal morphology, Ap...	OMIM:142900
Spondyloperipheral Dysplasia	Short distal phalanx of the 2nd finger, Shortening of all middle phalanges of the fingers, Short ...	OMIM:271700
Gitelman Syndrome	Parathyroid adenoma, Pericardial effusion, Neoplasm of the pancreas, Graves disease, Palpitations...	ORPHA:358
Eisenmenger Syndrome	Atrioventricular canal defect, Pedal edema, Aortopulmonary window, Ventricular arrhythmia, Suprav...	ORPHA:97214
Smith-Mccort Dysplasia 1	Genu varum, Genu valgum, Hypoplastic acetabulae, Delayed femoral head ossification, Kyphosis, Pro...	OMIM:607326
Zechi-Ceide Syndrome	Short metatarsal, Mandibular prognathia, Oligodontia, Short philtrum, Atrial septal defect, Downt...	ORPHA:217017
Spondylometaphyseal Dysplasia, Schmidt Type	Gastroesophageal reflux, Abnormality of the knee, Genu valgum, Polyhydramnios, Cleft soft palate,...	ORPHA:93316
Nablus Mask-Like Facial Syndrome	Camptodactyly, Everted lower lip vermilion, Short hallux, Short neck, Smooth philtrum, Sparse eye...	OMIM:608156
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Delayed eruption of teeth, Micrognathia, Microdontia, Sparse eyelashes...	OMIM:268400
Fetal Akinesia Deformation Sequence 1	Camptodactyly of finger, Wrist flexion contracture, Polyhydramnios, Thoracic hypoplasia, Microgna...	OMIM:208150
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Broad eyebrow	OMIM:618302
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hypothyroidism, Foot joint contracture, Abnormal liver parenchyma morphology, Aplasia/Hypoplasia ...	ORPHA:456312
Unilateral Polymicrogyria	Pulmonary arteriovenous malformation, Pseudobulbar paralysis, Epistaxis, Abnormal heart morpholog...	ORPHA:268943
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Glomerulopathy, Renal duplication, Tubulointerstitial nephritis, Cleft ...	ORPHA:33001
Fibrous Dysplasia Of Bone	Abnormal mandible morphology, Hyperpituitarism, Osteolysis, Abnormal zygomatic bone morphology, T...	ORPHA:249
Isolated Exencephaly	Polyhydramnios, Hypoplasia of the frontal bone, Anterior pituitary hypoplasia, Maternal diabetes,...	ORPHA:563612
Melnick-Needles Syndrome	Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Delayed eruption...	OMIM:309350
Metaphyseal Acroscyphodysplasia	Genu varum, Biconcave vertebral bodies, Short toe, Short metacarpal, Hypoplasia of the odontoid p...	OMIM:250215
Familial Visceral Myopathy	Camptodactyly of finger, Vesicoureteral reflux, Aplasia/Hypoplasia of the abdominal wall musculat...	ORPHA:2604
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	Hip subluxation, Elbow flexion contracture, Hip dislocation, Premature osteoarthritis, Radial hea...	ORPHA:93360
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Patent ductus arteriosus, Anemia, High palate, Megaloblastic anemia, Cystathioninuria, Short stat...	OMIM:277380
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Micrognathia, Microdontia, Atrial septal defect, Short distal phalanx of toe,...	OMIM:619356
Alazami Syndrome	Sparse eyebrow, Wide mouth, Widely spaced teeth, Short philtrum, Atrial septal defect, Scoliosis,...	ORPHA:319671
Achondroplasia	Genu varum, Polyhydramnios, Spinal stenosis with reduced interpedicular distance, Severe platyspo...	OMIM:100800
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Sparse eyebrow, Hypoplasia of the frontal bone, Cranium bifidum occultum...	ORPHA:306542
Treacher Collins Syndrome 1	Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Micrognathia, Preauricular hair...	OMIM:154500
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Oral ulcer, Crohn's disease, Perianal abscess, Short stature, Nephrotic syndrome, ...	OMIM:618935
Thymic Carcinoma	Neoplasm of the thymus, Edema, Abnormal vena cava morphology, Palpebral edema, Mediastinal lympha...	ORPHA:99868
Cystic Fibrosis	Meconium ileus, Biliary cirrhosis, Cirrhosis, Bronchiectasis, Exocrine pancreatic insufficiency, ...	OMIM:219700
Penoscrotal Transposition	Pectus carinatum, Patellar aplasia, Renal dysplasia, Micrognathia, Penoscrotal transposition, Ren...	ORPHA:2842
Bruck Syndrome 2	Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Short statu...	OMIM:609220
Medullary Thyroid Carcinoma	Neoplasm of the lung, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Lymphadenopathy, Dys...	ORPHA:1332
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Genu varum, Joint contracture of the hand, Arthropathy, Enlarged interph...	OMIM:208230
Chromosome 15Q14 Deletion Syndrome	Ventricular septal defect, Recurrent viral upper respiratory tract infections, Short philtrum, At...	OMIM:616898
Hydrolethalus Syndrome 1	Polyhydramnios, Micrognathia, Median cleft lip, Agenesis of the diaphragm, Adrenal gland dysgenes...	OMIM:236680
Phakomatosis Pigmentokeratotica	Nephroblastoma, Precocious puberty, Coloboma, Lymphedema, Spina bifida, Rhabdomyosarcoma, Raynaud...	ORPHA:2874
Craniofacial-Deafness-Hand Syndrome	Camptodactyly of finger, Ulnar deviation of the wrist, Abnormality of the wrist, Hypoplasia of th...	ORPHA:1529
Renal Nutcracker Syndrome	Dilatation of mesenteric artery, Anemia, Abnormal autonomic nervous system physiology, Vulval var...	ORPHA:71273
Bdv Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin...	OMIM:619326
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis,...	OMIM:614262
Developmental And Epileptic Encephalopathy 90	Hypothyroidism, Ankle clonus, Limb hypertonia, Atrial septal defect, Fetal pyelectasis	OMIM:301058
Smith-Mccort Dysplasia 2	Hyperlordosis, Genu valgum, Mandibular prognathia, Short stature, Short metacarpal, Hypoplasia of...	OMIM:615222
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Osteoarthritis, Hip osteoarthritis, Short stature, Platyspondyly	OMIM:271600
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Ventriculomegaly, Optic atrophy, High palate, Natal tooth, Craniosynostosis, Hydro...	OMIM:123790
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar interpedicular narrowing, Delayed skeletal maturation, Limited elbow extension, Short dent...	OMIM:271510
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Short stature, Delayed eruption of teeth, Micrognathia, Communicat...	ORPHA:2050
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ...	OMIM:617044
Hemorrhagic Fever-Renal Syndrome	Hypotension, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis, Pleural effusion, Pal...	ORPHA:340
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Polyhydramnios, Abnormal sternum morphology, Sparse scalp hair, High palate, Ventricular septal d...	OMIM:607721
Retinitis Pigmentosa With Or Without Skeletal Anomalies	High anterior hairline, Sparse eyebrow, Ventricular septal defect, Short stature, Short metacarpa...	OMIM:250410
Immunodeficiency 87 And Autoimmunity	Atrioventricular canal defect, Necrotizing enterocolitis, Decreased proportion of CD4-positive T ...	OMIM:619573
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence, Pseudobulbar paralysis, Lacunar stroke, Stroke, Nonarteritic anterior ische...	OMIM:125310
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Bifid tongue, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of t...	ORPHA:2167
21Q22.11Q22.12 Microdeletion Syndrome	Sacral dimple, Anemia, Short stature, Thick lower lip vermilion, Agenesis of corpus callosum, Cam...	ORPHA:261323
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia, Hepatic arteriovenous malformation, Telangiectasia, Cerebral arteriovenous malformation, ...	OMIM:175050
Rapp-Hodgkin Syndrome	Conical tooth, Microdontia, Bifid uvula, Taurodontia, Supernumerary nipple, Decreased number of s...	OMIM:129400
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Recurrent fractures, Short stature, Joint hypermobilit...	OMIM:615220
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Mandibular aplasia, Micrognathia, Bifid uvula, Breast aplasia, Elbow dis...	ORPHA:2554
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hip subluxation, Thoracic hypoplasia, Progressive calcification of costochondral cartilage, Micro...	OMIM:271665
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Gastroesophageal reflux, Anemia, Esophageal stricture, Flexion contracture, Ankyloglossia, Esopha...	ORPHA:89842
Metaphyseal Chondrodysplasia, Schmid Type	Genu varum, Genu valgum, Irregular vertebral endplates, Short stature, Scoliosis, Irregular aceta...	OMIM:156500
Angelman Syndrome	Mandibular prognathia, Wide mouth, Widely spaced teeth, Fair hair, Macroglossia, Hypoplasia of th...	OMIM:105830
Osteoglophonic Dysplasia	Increased susceptibility to fractures, Eruption failure, Mandibular prognathia, High palate, Rhiz...	OMIM:166250
Nevus Comedonicus Syndrome	Spina bifida, Abnormal vertebral morphology, Spina bifida occulta, Scoliosis, Abnormal hair morph...	ORPHA:64754
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Sho...	OMIM:313400
Neurocutaneous Melanocytosis	Meningocele, Ventriculomegaly, Renal hypoplasia/aplasia, Intracranial hemorrhage, Chorioretinal c...	ORPHA:2481
Vici Syndrome	T lymphocytopenia, Everted upper lip vermilion, Micrognathia, Median cleft lip, Decreased proport...	OMIM:242840
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect, Thin upper lip vermilion, Downturned corners of mouth, Frontal encephalocel...	ORPHA:521308
Radio-Renal Syndrome	Retrognathia, Multicystic kidney dysplasia, Abnormality of the elbow, Renal dysplasia, Renal hypo...	ORPHA:3015
Xq21 Microdeletion Syndrome	Ankle clonus, Decreased response to growth hormone stimulation test, Abnormality of the Achilles ...	ORPHA:1435
Relapsing Polychondritis	Glomerulopathy, Alopecia, Vascular dilatation, Recurrent aphthous stomatitis, Large vessel vascul...	ORPHA:728
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k...	OMIM:617805
Joubert Syndrome 3	Lateral ventricle dilatation, Stage 5 chronic kidney disease, Atrial septal defect, Highly arched...	OMIM:608629
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Delayed skeletal maturation, Abnormal eyelash morphology, Abnormal hair ...	ORPHA:2273
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Optic atrophy, Premature graying of hair, Bone marrow hypocellularity, Sp...	OMIM:305000
Oculodentodigital Dysplasia	Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Sparse hair, S...	OMIM:164200
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Pulmonary arterial hypertension, Gastroesophageal reflux, Flexion contracture, Sparse scalp hair,...	OMIM:620029
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Hypoplasia of the maxilla, Osteolysis, Short distal phalanx of finger, Abnormality...	ORPHA:2776
Waardenburg Syndrome, Type 1	Supernumerary vertebrae, Mandibular prognathia, Myelomeningocele, Premature graying of hair, Spin...	OMIM:193500
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Polyhydramnios, Renal dysplasia, Delayed eruption of teeth, Micrognathia, Synophrys, Bifid uvula,...	OMIM:300990
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo...	ORPHA:26793
Clapo Syndrome	Lymphedema, Capillary malformation of the lip, Ganglioneuroma, Pectus excavatum, Venous malformat...	ORPHA:168984
Gabriele-De Vries Syndrome	Hypothyroidism, Abnormality of upper lip vermillion, Ventriculomegaly, Finger joint hypermobility...	ORPHA:506358
Shprintzen Omphalocele Syndrome	Kyphosis, Short stature, Anal atresia, Scoliosis, Narrow chest, Thin vermilion border, Omphalocel...	OMIM:182210
Rhizomelic Dysplasia, Ain-Naz Type	Short femoral neck, Rhizomelia, Limitation of joint mobility, Short femur, Hypoplasia of the femo...	OMIM:619598
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Enlarged kidney, Polysplenia, Hypoplastic colon, Cystic renal dysplasia, Pulmon...	OMIM:200995
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr...	OMIM:108900
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Short stature, Vertebral segmentation defect, Synostosis of carpal bones...	ORPHA:1836
Pmm2-Cdg	Multiple joint contractures, Pericardial effusion, Impaired neutrophil chemotaxis, Angina pectori...	ORPHA:79318
Combined Immunodeficiency-Enteropathy Spectrum	Polyhydramnios, Hypoplasia of the thymus, Rectal abscess, Jejunoileal ulceration, Abnormality of ...	ORPHA:436252
Knobloch Syndrome 1	Patent ductus arteriosus, Renal duplication, Horizontal eyebrow, Bifid ureter, Ventriculomegaly, ...	OMIM:267750
Multiple Endocrine Neoplasia, Type Iia	Medullary thyroid carcinoma, Elevated urinary vanillylmandelic acid, Parathyroid adenoma, Increas...	OMIM:171400
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Coarctation of aorta, Hypos...	OMIM:600460
White-Kernohan Syndrome	Retrognathia, Gastroesophageal reflux, Hypothyroidism, Horizontal eyebrow, Wide mouth, Hydrourete...	OMIM:619426
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Supernumerary nipple, Atrial septal defect, Prominent metopic ridg...	OMIM:618109
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Protrusio acetabuli, Joint dislocation, Progressive congenital scoliosis, Bladder diverticulum, C...	OMIM:225400
Osteopetrosis With Renal Tubular Acidosis	Prominence of the zygomatic bone, Optic atrophy, Micrognathia, Secondary hyperparathyroidism, Pec...	ORPHA:2785
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Retrognathia, Absent thumb, Elbow flexion contracture, Congenital diaphragmatic hernia, Short cla...	OMIM:618022
Diamond-Blackfan Anemia 16	Anemia, Pulmonic stenosis, Atrial septal defect	OMIM:617408
Meier-Gorlin Syndrome 4	Patellar aplasia, Birth length less than 3rd percentile, Short stature, Thick lower lip vermilion...	OMIM:613804
Meckel Syndrome, Type 6	Absent gallbladder, Hepatic fibrosis, Hepatic cysts, Cleft upper lip, Anencephaly, Hydrocephalus,...	OMIM:612284
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Short 5th metacarpal, Thoracic kyphosis, Delayed skeletal matur...	OMIM:619638
Carney Complex, Type 1	Thyroid carcinoma, Pituitary adenoma, Congestive heart failure, Pheochromocytoma, Schwannoma, Car...	OMIM:160980
Curry-Jones Syndrome	High anterior hairline, Lip pit, Ventriculomegaly, Agenesis of corpus callosum, Lipomyelomeningoc...	OMIM:601707
3Mc Syndrome 3	Sacral dimple, Cleft upper lip, Diastasis recti, Short stature, Radioulnar synostosis, Penoscrota...	OMIM:248340
Chromosome 8Q22.1 Duplication Syndrome	Gastroesophageal reflux, Short stature, Short metacarpal, Short thumb, Limitation of joint mobili...	OMIM:151200
Fibular Hemimelia	Hip subluxation, Short tibia, Limited knee flexion/extension, Hypoplastic acetabulae, Renal dyspl...	ORPHA:93323
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Gingivitis, Flexion contracture, Short 4th metacarpal, Abnormality of th...	ORPHA:2908
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Horizontal inferior border of scapula, Anterior rib cupping, B lymphocytopenia, Lymphopenia, Auto...	OMIM:102700
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An...	ORPHA:2973
Nager Syndrome	Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the eyebrow, Wide m...	ORPHA:245
Distal Monosomy 19P13.3	Alopecia, Pulmonary valve atresia, Ventricular septal defect, Keloids, Tricuspid valve prolapse, ...	ORPHA:96129
Pituicytoma	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:251623
Anophthalmia Plus Syndrome	Non-midline cleft lip, Spina bifida, Vertebral segmentation defect, Iris coloboma, Cleft palate, ...	ORPHA:1104
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	High anterior hairline, Long philtrum, Short stature, Abnormal mitral valve morphology, Wide mout...	ORPHA:1292
Fibrochondrogenesis	Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Wide anterior fontanel, Short stature, S...	ORPHA:2021
Autosomal Recessive Spastic Paraplegia Type 23	Short stature, Hip dislocation, Silver-gray hair, Kyphoscoliosis, Horseshoe kidney	ORPHA:101003
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Hydrocephalus, Perineal fistula, Anal atresia, Oligohydramnios, Rectova...	ORPHA:3016
Spondylospinal Thoracic Dysostosis	Short thorax, Micrognathia, Multiple pterygia, Pulmonary hypoplasia, Hypoplasia of the maxilla, A...	OMIM:601809
Primary Sjögren Syndrome	Biliary cirrhosis, Chronic active hepatitis, Polyarticular arthropathy, Myositis, Glomerulonephri...	ORPHA:289390
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Flexion contracture, Wide anterior fontanel, Long philtrum, Humeroradial synostosis, Coronal cran...	OMIM:207410
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Rhizomelia, Short finger, Joint laxity, Barrel-shaped chest, Short neck, M...	OMIM:612813
Mandibuloacral Dysplasia Progeroid Syndrome	Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Flexion contract...	OMIM:619127
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Heart murmur, Widely spaced teeth, Microdontia, Atrial septal defect, Multiple bladder diverticul...	ORPHA:2728
Duplication Of Urethra	Vesicoureteral reflux, Urinary incontinence, Penile hypospadias, Anuria, Anal fistula, Anorectal ...	ORPHA:237
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Urinary incontinence, Atrial septal defect	OMIM:620094
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors	ORPHA:397973
Axenfeld-Rieger Syndrome	Microdontia, Hypodontia, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypospadias, Gro...	ORPHA:782
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Hematuria, Hypertension, Internal hemorrhage, Renal neoplasm, Lymp...	ORPHA:69077
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Horizontal ribs, Thoracic dysplasia, Pulmonary hypoplasia, Early ossification of capital femoral ...	OMIM:208500
Craniotubular Dysplasia, Ikegawa Type	Thick upper lip vermilion, Increased intervertebral space, Optic nerve compression, Ventricular s...	OMIM:619727
Primrose Syndrome	Hypothyroidism, Flexion contracture, Ventriculomegaly, Synophrys, Torus palatinus, Pectus excavat...	OMIM:259050
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Scleroti...	OMIM:601376
Blue Rubber Bleb Nevus	Abnormality of the liver, Intussusception, Volvulus, Intestinal bleeding, Iron deficiency anemia,...	OMIM:112200
Meige Disease	Pedal edema, Cellulitis, Lymphedema, Edema of the dorsum of hands, Predominantly lower limb lymph...	ORPHA:90186
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Polyhydramnios, Ventricular septal defect, Short stature, Short ribs, Thoracic dysplasia, Pulmona...	OMIM:615503
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated bronchoalveolar lavage fluid neutrophil proportion, Elevated circulating thyroid-stimula...	OMIM:610978
Distal Monosomy 6P	Ventriculomegaly, Short foot, Vertebral segmentation defect, Micrognathia, Short philtrum, Atrial...	ORPHA:96125
Neu-Laxova Syndrome 2	Polyhydramnios, High palate, Ventriculomegaly, Spina bifida, Micrognathia, Edema, Short neck, Sco...	OMIM:616038
Keipert Syndrome	Short stature, Hypoplasia of the maxilla, Short hallux, Short distal phalanx of finger, Aplasia/H...	ORPHA:2662
Thyroid Ectopia	Hypothyroidism, Short stature, Jaundice, Macroglossia, Growth delay, Abnormality of the thyroid g...	ORPHA:95712
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent fractures, Short stature, Bruising susceptibility, Atrial septal defect, Joint hypermob...	OMIM:619115
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Thoracolumbar scoliosis, Short femoral neck, Short stature, Short metacarpal, Carpal bone hypopla...	OMIM:616723
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Delayed eruption of primary teeth, Lateral ventricle dilatation, Car...	OMIM:300952
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Horizontal ribs, Thoracic hypoplasia, Short 4th metacarpal, Camptodactyly, Limb undergrowth, Ovoi...	OMIM:618019
Meier-Gorlin Syndrome 5	Gastroesophageal reflux, Long philtrum, Birth length less than 3rd percentile, Short stature, Pat...	OMIM:613805
Bruck Syndrome	Recurrent fractures, Short stature, Kyphosis, Pterygium, Osteoporosis, Scoliosis, Platyspondyly, ...	ORPHA:2771
Acromelic Frontonasal Dysplasia	Meningocele, Aplasia/Hypoplasia of the tibia, Anterior pituitary hypoplasia, Encephalocele, Ventr...	ORPHA:1827
Osteogenesis Imperfecta, Type Xxi	Bell-shaped thorax, Recurrent fractures, Pectus excavatum, Barrel-shaped chest, Joint hypermobili...	OMIM:619131
Bardet-Biedl Syndrome 21	Hypodontia, Horseshoe kidney, Abnormality of the dentition	OMIM:617406
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Hypothyroidism, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the pancreas,...	ORPHA:93111
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Meckel Syndrome, Type 2	Meningocele, Encephalocele, Anencephaly, Renal cyst, Intestinal malrotation, Bile duct proliferat...	OMIM:603194
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, IgA deposition in the glomerulus, Flexion contracture, Urethral stricture...	ORPHA:79408
Hyperthyroidism, Nonautoimmune	Hyperthyroidism, Increased circulating T4 concentration, Accelerated skeletal maturation, Thyroid...	OMIM:609152
Telangiectasia, Hereditary Hemorrhagic, Type 2	Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren...	OMIM:600376
Hellp Syndrome	Hypotension, Back pain, Hemolytic anemia, Cerebral hemorrhage, Pulmonary edema, Acute kidney inju...	ORPHA:244242
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Renal dysplasia, Keloids, Torticollis, Pyelonephritis, Unilateral renal atrophy, Nephritis, Crypt...	OMIM:314300
Sacral Defect With Anterior Meningocele	Meningocele, Back pain, Myelomeningocele, Urinary retention, Anterior sacral meningocele, Absence...	OMIM:600145
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm	Celiac artery compression	OMIM:116870
Spina Bifida-Hypospadias Syndrome	Spina bifida, Hypospadias, Spinal dysraphism	ORPHA:3176
Hamel Cerebro-Palato-Cardiac Syndrome	Short stature, Micrognathia, Atrial septal defect, Narrow mouth, Cleft palate, Malar flattening	ORPHA:93946
Whim Syndrome	Lymphadenitis, Respiratory tract infection, Neutropenia, Abnormality of neutrophil morphology, Ce...	ORPHA:51636
Muir-Torre Syndrome	Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Renal neoplasm, Colon cancer, S...	ORPHA:587
Familial Idiopathic Dilatation Of The Right Atrium	Pleural effusion, Abnormal vena cava morphology, Palpitations, Hepatomegaly, Peripheral edema, Tr...	ORPHA:1677
15q26 overgrowth syndrome	Camptodactyly of finger, Vesicoureteral reflux, High anterior hairline, Mandibular prognathia, Hi...	DECIPHER:81
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Short metacarpal, Platyspondyly, Short metatarsal, Short humerus	OMIM:601438
Lymphatic Malformation 7	Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial sept...	OMIM:617300
Marshall Syndrome	Thick upper lip vermilion, Sparse eyebrow, Genu valgum, High palate, Long philtrum, Short stature...	ORPHA:560
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, J...	OMIM:602196
Non-Functioning Pituitary Adenoma	Hypotension, Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin ...	ORPHA:91349
Marburg Hemorrhagic Fever	Hypotension, Reticulocytosis, Pericarditis, Shock, Capillary leak, Dehydration, Neutrophilia in p...	ORPHA:99826
Gaucher Disease, Type Iiic	Splenomegaly, Mitral stenosis, Calcification of the aorta, Hydrocephalus, Pancytopenia, Hepatomeg...	OMIM:231005
Igg4-Related Pachymeningitis	Lymphadenitis, Abnormality of the cervical spine, Lower limb muscle weakness, Low back pain, Neph...	ORPHA:449427
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Wide anterior fontanel, Kyphosis, Recurrent fractures, Short metacarpa...	OMIM:610915
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Multicystic kidney dysplasia, Ventriculomegaly, Short stature, Renal cyst, Chorioret...	ORPHA:2031
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test, Microdontia, Hypodontia, Oligodontia, Shor...	OMIM:180500
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Flared, irregular rib ends, Genu varum, Pear-shaped vertebrae, Rhi...	OMIM:602111
Oculodentodigital Dysplasia, Autosomal Recessive	Dental malocclusion, Macrodontia of permanent maxillary central incisor, Short stature, Delayed e...	OMIM:257850
Anorectal Anomalies	Rectovaginal fistula, Anal atresia	OMIM:107100
Congenital Factor X Deficiency	Prolonged bleeding after surgery, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, ...	ORPHA:328
Li-Fraumeni Syndrome	Stomach cancer, Acute myeloid leukemia, Colorectal polyposis, Neoplasm of the gastrointestinal tr...	ORPHA:524
Tick-Borne Encephalitis	Leukopenia, Back pain, Stiff neck, Abnormal glossopharyngeal nerve morphology, Polyneuritis, Abno...	ORPHA:297
Diarrhea 10, Protein-Losing Enteropathy Type	Hypothyroidism, Polyhydramnios, Elevated circulating thyroid-stimulating hormone concentration, C...	OMIM:618183
Cutis Laxa, Autosomal Recessive, Type Iic	Knee flexion contracture, Right bundle branch block, High palate, Long philtrum, Short stature, P...	OMIM:617402
Pancreatic insufficiency, combined exocrine	Exocrine pancreatic insufficiency, Anal atresia, Congestive heart failure, Anasarca	OMIM:260450
Pfeiffer Syndrome	Short middle phalanx of toe, Mandibular prognathia, High palate, Humeroradial synostosis, Coronal...	OMIM:101600
Marshall Syndrome	Thick upper lip vermilion, Pierre-Robin sequence, Macrodontia of permanent maxillary central inci...	OMIM:154780
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Retrognathia, Limb hypertonia, Broad eyebrow, Atrial septal defect, Sacral hypertrichosis, Scolio...	ORPHA:457351
Criss-Cross Heart	Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Abnormal thorax mor...	ORPHA:1461
Cystic Fibrosis	Meconium ileus, Gastroesophageal reflux, Cirrhosis, Abnormality of the liver, Pneumothorax, Bronc...	ORPHA:586
Gangliocytoma	Adrenocorticotropic hormone excess, Accelerated skeletal maturation, Ganglioneuroma, Pituitary nu...	ORPHA:251937
Formiminoglutamic Aciduria	Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic anemia, Atrial septal...	ORPHA:51208
Antley-Bixler Syndrome	Camptodactyly of finger, Delayed cranial suture closure, Long philtrum, Recurrent fractures, Narr...	ORPHA:83
Developmental And Epileptic Encephalopathy 102	Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect, Hepatomegaly	OMIM:619881
Erythrocytosis, Familial, 2	Pulmonary arterial hypertension, Hypotension, Elevated circulating erythropoietin concentration, ...	OMIM:263400
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Retrognathia, Dentinogenesis imperfecta, Short toe, Precocious puberty, Periodontitis, Moderate a...	OMIM:619269
Omphalocele Syndrome, Shprintzen-Goldberg Type	Gastroesophageal reflux, Sparse lateral eyebrow, Anal atresia, Thin upper lip vermilion, Downturn...	ORPHA:3164
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Limb undergrowth, Mesomelia, Platyspondyly...	OMIM:601356
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Gastroesophageal reflux, Sparse eyebrow, Long philtrum, Micrognathia, Synophrys, Broad eyebrow, T...	ORPHA:495875
Eiken Syndrome	Short toe, Abnormal bone ossification, Short foot, Short stature, Absence of the sacrum, Limited ...	ORPHA:79106
Brachyolmia Type 3	Short femoral neck, Kyphosis, Childhood-onset short-trunk short stature, Barrel-shaped chest, Sho...	OMIM:113500
Hypophosphatasia	Anemia, Recurrent fractures, Short stature, Emphysema, Narrow chest, Craniosynostosis, Abnormal r...	ORPHA:436
Acrofacial Dysostosis, Cincinnati Type	Patent ductus arteriosus, Retrognathia, Short stature, Micrognathia, Acetabular dysplasia, Hypopl...	OMIM:616462
Spondylometaphyseal Dysplasia, Sedaghatian Type	Rhizomelic arm shortening, Short metacarpal, Narrow chest, Short palm, Accelerated skeletal matur...	ORPHA:93317
Liposarcoma	Abnormality of the kidney, Varicose veins	ORPHA:69078
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Short metatarsal, Abnormal palate morphology, Mandibular prognathia	ORPHA:1540
Acropectorovertebral Dysplasia	Camptodactyly of finger, Spina bifida, Synostosis of carpal bones, Pectus excavatum, Short distal...	ORPHA:957
Immunodeficiency 40	Respiratory tract infection, T lymphocytopenia, Interstitial pneumonitis, Recurrent pneumonia, Fo...	OMIM:616433
Ulbright-Hodes Syndrome	Ovoid thoracolumbar vertebrae, Pneumothorax, Humeroradial synostosis, Micrognathia, Pulmonary hyp...	ORPHA:3404
Bladder Exstrophy	Vesicoureteral reflux, Abnormality of the anus, Recurrent urinary tract infections, Hypoplasia of...	ORPHA:93930
Alström Syndrome	Gingivitis, Chronic bronchitis, Recurrent sinusitis, Myocardial fibrosis, Hepatic steatosis, Glom...	ORPHA:64
Calvarial Doughnut Lesions With Bone Fragility	Recurrent fractures, Severe short stature, Scoliosis, Osteopenia, Platyspondyly, Carious teeth, O...	OMIM:126550
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Micrognathia, Hydrocephalus, Conotruncal defect	OMIM:243440
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Vesicovaginal fistula, Humeroradial synostosis, Adrenal insufficiency, Decreased circulating reni...	OMIM:201750
Waardenburg Syndrome Type 3	Camptodactyly of finger, Synostosis of carpal bones, Tracheomalacia, Atrial septal defect, White ...	ORPHA:896
Melanocytic Nevus Syndrome, Congenital	Long philtrum, Deep philtrum, Prominence of the premaxilla, Everted lower lip vermilion, Open mouth	OMIM:137550
Panhypophysitis	Hyposthenuria, Increased circulating prolactin concentration, Gonadotropin deficiency, Abnormal s...	ORPHA:95513
Acquired Purpura Fulminans	Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time,...	ORPHA:49566
Kyphomelic Dysplasia	Cleft upper lip, Anterior rib cupping, Thoracic hypoplasia, Short metacarpal, Micrognathia, Flat ...	OMIM:211350
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Opti...	ORPHA:91350
Spondylometaphyseal Dysplasia, Sedaghatian Type	11 pairs of ribs, Short toe, Horizontal inferior border of scapula, Rhizomelia, Short metacarpal,...	OMIM:250220
Familial Osteodysplasia, Anderson Type	Increased susceptibility to fractures, Mandibular prognathia, Aplastic clavicle, Recurrent fractu...	ORPHA:2769
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Aminoaciduria, Wrist swelling, Ventriculomegaly, Hyperphosphaturia, Hip ...	OMIM:309000
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Gingivitis, Abnormal rib morphology, Abnormality of the urethra, Dystrop...	ORPHA:2907
Duodenal Atresia	Polyhydramnios, Abnormality of the pancreas, Abnormality of the pulmonary artery, Annular pancrea...	ORPHA:1203
Lacrimoauriculodentodigital Syndrome 1	Nephrosclerosis, Enamel hypoplasia, Conical incisor, Delayed eruption of primary teeth, Short thu...	OMIM:149730
Frontal Encephalocele	Spina bifida, Hydrocephalus, Encephalocele	ORPHA:1931
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Short stature, Esophageal atresia, Deep philtrum, Micrognathia, Atrial...	OMIM:610536
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Coloboma, Rhizomelia, Short metacarpal, Severe short stature, Cupped ribs, Ovoid vertebral bodies...	ORPHA:85167
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Short stature, Short philtrum, Hypoplasia of the maxilla, Frontal balding	ORPHA:93945
Hereditary Orotic Aciduria	Patent ductus arteriosus, Aminoaciduria, Anemia, Recurrent respiratory infections, Oroticaciduria...	ORPHA:30
Autosomal Dominant Popliteal Pterygium Syndrome	Fibrous syngnathia, Non-midline cleft lip, Lip pit, Micrognathia, Thin upper lip vermilion, Popli...	ORPHA:1300
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Micrognathia, Atrial septal defect, Facial hypotonia, Smoo...	OMIM:614526
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Lipomas of eyelids, Coloboma, Widow's peak, Hypoplasia of the maxilla	OMIM:167730
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Short distal phalanx of finger, Proximal/middle symphalangism of 5th fi...	OMIM:184460
Adenohypophysitis	Hyposthenuria, Increased circulating prolactin concentration, Gonadotropin deficiency, Abnormal s...	ORPHA:95512
Sheehan Syndrome	Gonadotropin deficiency, Decreased circulating cortisol level, Secondary growth hormone deficienc...	ORPHA:91355
Toriello-Lacassie-Droste Syndrome	Polyhydramnios, Aganglionic megacolon, Epispadias, Abnormality of the bladder, Abnormality of the...	ORPHA:3339
Cleft Lip/Palate	Dental malocclusion, Abnormal number of permanent teeth, Agenesis of lateral incisor, Velopharyng...	ORPHA:199306
Polysyndactyly With Cardiac Malformation	Polyhydramnios, Ventricular septal defect, Atrial septal defect, Renal cyst, Stillbirth, Hepatic ...	OMIM:263630
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Short stature, Short 4th metacarpal, Atrial septal defect	OMIM:113301
Al-Raqad Syndrome	Thin upper lip vermilion, Narrow mouth, Joint laxity, Atrial septal defect	OMIM:616459
Norrie Disease	Optic atrophy, Venous insufficiency, Diabetes mellitus, Remnants of the hyaloid vascular system, ...	ORPHA:649
Microtia	Holoprosencephaly	ORPHA:83463
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Flexion contracture, Premature graying of hair, Elbow flexion contractur...	OMIM:256040
Osteoporosis-Pseudoglioma Syndrome	Increased susceptibility to fractures, Biconcave vertebral bodies, Severe platyspondyly, Kyphosis...	OMIM:259770
Humero-Radial Synostosis	Meningocele, Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormality of the wrist, Limitati...	ORPHA:3265
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Developmental And Epileptic Encephalopathy 18	Polyhydramnios, Atrial septal defect, Oligohydramnios, Aortic regurgitation, Highly arched eyebrow	OMIM:615476
Hypohidrotic Ectodermal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized hypopigmentation of hair, Ne...	ORPHA:238468
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Accelerated skeletal mat...	ORPHA:424
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Bifid uvula, Submucous cleft hard palate, Atrial septal defect, Pulmonic stenosis	OMIM:619239
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat...	OMIM:276820
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Micrognathia, Hydrocele testis, Horseshoe kidney, Renal hyp...	OMIM:266810
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Hypoplastic sacrum, Mandibular prognathia, Rhizomelia, Long philtrum, Short metacarpal, Short fem...	OMIM:614813
Aspartylglucosaminuria	Aspartylglucosaminuria, Hypoplastic frontal sinuses, Delayed skeletal maturation, Hepatomegaly, B...	OMIM:208400
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Anemia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyp...	OMIM:174900
Glycogen Storage Disease Ib	Oral ulcer, Neutropenia, Short stature, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, ...	OMIM:232220
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Gastroesophageal reflux, Horizontal eyebrow, Abnormal location of the eyebrow, Widow's peak, Join...	ORPHA:522077
Mitchell-Riley Syndrome	Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol...	OMIM:615710
Chiari Malformation Type Ii	Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Dysphagia, Limb muscle weakne...	OMIM:207950
Holoprosencephaly 1	Diabetes insipidus, Ethmocephaly, Short stature, Median cleft lip and palate, Alobar holoprosence...	OMIM:236100
Aceruloplasminemia	Cirrhosis, Hepatic fibrosis, Torticollis, Congestive heart failure, Hypochromic microcytic anemia...	ORPHA:48818
Shwachman-Diamond Syndrome 2	Genu varum, High palate, Anterior rib cupping, Short stature, Neutropenia, Normocytic anemia, Ste...	OMIM:617941
Arnold-Chiari Malformation Type Ii	Meningocele, Myelomeningocele, Ventriculomegaly, Aqueductal stenosis, Neurogenic bladder, Hand mu...	ORPHA:1136
Faciocardiorenal Syndrome	Hypodontia, Narrow mouth, Horseshoe kidney, Smooth philtrum, Cleft palate, Tricuspid valve prolap...	ORPHA:1973
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff...	ORPHA:99819
Ebstein Malformation Of The Tricuspid Valve	Patent ductus arteriosus, Imperforate tricuspid valve, Sudden cardiac death, Right bundle branch ...	ORPHA:1880
Lowry-Wood Syndrome	Patellar dislocation, Short stature, Elbow dislocation, Dislocated radial head, Abnormality of na...	ORPHA:1824
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Msh3-Related Attenuated Familial Adenomatous Polyposis	Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Renal cyst...	ORPHA:480536
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Decreased testicular size, Breast aplasia, Type I diabetes mellitus, Spars...	ORPHA:3044
Nasopalpebral Lipoma-Coloboma Syndrome	Multiple lipomas, Sparse eyebrow, Lipomas of eyelids, Coloboma, Widow's peak, Hypoplasia of the m...	ORPHA:2399
Familial Multinodular Goiter	Pleuropulmonary blastoma, Colorectal polyposis, Hyperthyroidism, Alveolar rhabdomyosarcoma, Thyro...	ORPHA:276399
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Tricuspid regurgitation, Long philtrum, Absent eyelashes, Microretrognathia, Hypoplasia of the ma...	ORPHA:228396
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Atrial Septal Defect 6	Bradycardia, Atrial fibrillation, Atrial septal defect	OMIM:613087
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology, Abnormal palate morphology, Intrauterine growth retardation	ORPHA:1506
Congenital Disorder Of Glycosylation, Type Iim	Gastroesophageal reflux, Enamel hypoplasia, Mandibular prognathia, High palate, Vesicovaginal fis...	OMIM:300896
Martinez-Frias Syndrome	Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ...	OMIM:601346
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hypothyroidism, Hepatic fibrosis, Short stature, Skeletal muscle fibrosis, Achilles tendon contra...	OMIM:616263
Camptodactyly Syndrome, Guadalajara Type 3	Retrognathia, Short foot, Small hand, Distal shortening of limbs, Spina bifida occulta, Short nec...	ORPHA:488434
Cleidocranial Dysplasia 2	Genu valgum, Aplastic clavicle, Wide anterior fontanel, Delayed eruption of primary teeth, Delaye...	OMIM:620099
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Wide mouth, Absent eyelashes, Microdontia, Hypoplasia of penis, Fine hai...	ORPHA:920
Prolactinoma	Hypotension, Female hypogonadism, Hypogonadism, Anterior hypopituitarism, Decreased circulating A...	ORPHA:2965
Barber-Say Syndrome	Dental malocclusion, Sparse eyebrow, Mandibular prognathia, High palate, Wide mouth, Delayed erup...	OMIM:209885
Bnar Syndrome	Short lingual frenulum, Anteriorly placed anus, Renal agenesis, Anal stenosis	ORPHA:217266
Cardiomyopathy, Familial Hypertrophic, 11	Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris...	OMIM:612098
Subependymal Nodular Heterotopia	Meningocele, Myelomeningocele, Abnormal ethmoid bone morphology, Partial agenesis of the corpus c...	ORPHA:101030
Cleft Velum	Aspiration pneumonia, Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla,...	ORPHA:99772
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopathy, Intestinal bleeding, Anal canal a...	ORPHA:424016
Holoprosencephaly 4	Semilobar holoprosencephaly, Median cleft lip and palate, Median cleft lip	OMIM:142946
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Short lingual frenulum, Ebstein anomaly of the tricuspid valve, Renal agenesi...	OMIM:608980
Pearson Marrow-Pancreas Syndrome	Refractory sideroblastic anemia, Hepatomegaly, Dehydration, Thrombocytopenia, Villous atrophy, 3-...	OMIM:557000
Malakoplakia	Abnormality of the tongue, Dysuria, Urinary urgency, Neoplasm of the rectum, Hematuria, Abnormal ...	ORPHA:556
Czech Dysplasia	Short toe, Intervertebral space narrowing, Irregular vertebral endplates, Flexion contracture, Sh...	OMIM:609162
Sillence Syndrome	Back pain, Flat acetabular roof, Camptodactyly, Abnormal vertebral morphology, Aplasia of the mid...	ORPHA:3168
Spondylometaphyseal Dysplasia, Algerian Type	Genu valgum, Anterior rib cupping, Carpal bone hypoplasia, Severe short stature, Kyphoscoliosis, ...	OMIM:184253
Darier Disease	Anal mucosal leukoplakia, Abnormal hair morphology	ORPHA:218
Familial Cerebral Cavernous Malformation	Neuroma, Scoliosis, Venous malformation, Cerebral hemorrhage	ORPHA:221061
Cowden Syndrome 7	Ductal carcinoma in situ, Intestinal polyposis, Hashimoto thyroiditis, Papillary thyroid carcinom...	OMIM:616858
Hereditary Mixed Polyposis Syndrome	Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Adenoca...	ORPHA:157794
Manitoba Oculotrichoanal Syndrome	Abnormal hair morphology, Anteriorly placed anus, Omphalocele, Anal stenosis	OMIM:248450
Yellow Fever	Anuria, Pancreatic hyperplasia, Reduced left ventricular ejection fraction, Acute kidney injury, ...	ORPHA:99829
Axenfeld-Rieger Syndrome, Type 3	Patent ductus arteriosus, Hypodontia, Microdontia, Atrial septal defect, Malar flattening	OMIM:602482
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Capillary malformation of the lip, Varicose veins, Venous malformation, Lymphedema	OMIM:613089
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri...	OMIM:610338
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Irregular vertebral endplates, Advanced ossification of carpal bones, Ventriculomegaly, Short sta...	OMIM:610442
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Long philtrum, Optic atrophy, Cellulitis, Leukonychia, Lymphedema, Atrial septal defect, Pleural ...	ORPHA:2526
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Conical tooth, Sparse body hair, Sparse eyebrow, Everted upper lip vermilion, Brittle hair, Absen...	OMIM:305100
X-Linked Acrogigantism	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo...	ORPHA:300373
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Anteriorly placed anus, Inguinal hernia, Hors...	OMIM:600057
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Alopecia of scalp, Conjunctival telangiectasia, Premature loss of ...	OMIM:618373
Spondyloepimetaphyseal Dysplasia, X-Linked	Genu varum, Anterior wedging of T11, Pectus carinatum, Limited elbow extension, Kyphosis, Short f...	OMIM:300106
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Pancreatitis, Atrial septal defect, Male hypogonadism, Proteinuria, Pap...	OMIM:619471
Varicose Veins	Varicose veins	OMIM:192200
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Osteomyelitis, Cellulitis, Liver abscess, Granulomatosis, Pleural effusion, Recurr...	OMIM:306400
Anencephaly 1	Spina bifida, Anencephaly	OMIM:206500
Posterior Meningocele	Meningocele, Neural tube defect, Thoracic hemivertebrae, Occipital meningocele, Hydromyelia, Hydr...	ORPHA:268810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension, Bronchiectasis, Decreased circulating cortisol level, Recurrent sinusitis, Alopecia ...	ORPHA:293978
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Intestinal perforation, Anemia, Abnormality of the anus, Acute kidney injury, Dysuria, Renal tubu...	ORPHA:95455
Gastrointestinal Stromal Tumor	Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract...	ORPHA:44890
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Short stature, Brittle hair, Macroglossia, Atrial septal defect, Growth delay, Nail dys...	ORPHA:93947
Familial Cutaneous Collagenoma	Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Osteomyelitis, Cellulitis, Liver abscess, Granulomatosis, Recurrent pneumonia, Lym...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Osteomyelitis, Cellulitis, Liver abscess, Granulomatosis, Recurrent pneumonia, Lym...	OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Osteomyelitis, Cellulitis, Liver abscess, Granulomatosis, Recurrent pneumonia, Lym...	OMIM:233690
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Narrow palate, Short stature, Coronal craniosynostosis, Radioulna...	OMIM:101400
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis, Annular pancreas	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis, Annular pancreas	ORPHA:675
Diamond-Blackfan Anemia 4	Reticulocytopenia, Short stature, Erythroid hypoplasia, Atrial septal defect, Growth delay, Macro...	OMIM:612527
Ablepharon-Macrostomia Syndrome	Short upper lip, Ventral hernia, Wide mouth, Short metacarpal, Absent eyelashes, Camptodactyly, A...	OMIM:200110
Diaphragmatic Hernia 2	Congenital diaphragmatic hernia, Agenesis of the diaphragm	OMIM:222400
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Neoplasm of the rectum, Colon cancer, Ovarian...	ORPHA:454840
Kindler Syndrome	Gingivitis, Periodontitis, Phimosis, Telangiectasia of the skin, Esophageal stenosis, Urethral st...	OMIM:173650
Craniosynostosis And Dental Anomalies	Dental malocclusion, Sagittal craniosynostosis, Mandibular prognathia, High palate, Narrow palate...	OMIM:614188
Inhalational Anthrax	Hypotension, Abnormal sweat gland morphology, Internal hemorrhage	ORPHA:247257
Orotic Aciduria	Pyrimidine-responsive megaloblastic anemia, Ventricular septal defect, Hematuria, Atrial septal d...	OMIM:258900
Neonatal Inflammatory Skin And Bowel Disease	Horizontal eyebrow, Left ventricular hypertrophy, Recurrent gastroenteritis, Anal fissure, Perian...	ORPHA:294023
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Non-midline cleft lip, Sparse scalp hair, Hip dislocation, Tooth agenesis, Sacral li...	ORPHA:2003
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Urachal cyst, Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excisi...	OMIM:608203
Agammaglobulinemia 1, Autosomal Recessive	Neutropenia, Bronchiectasis, B lymphocytopenia, Recurrent sinusitis, Recurrent pneumonia, Rectal ...	OMIM:601495
Pancreatitis, Hereditary	Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Pleural effusion, Diabetes mellitus...	OMIM:167800
Leukocyte Adhesion Deficiency, Type I	Gingivitis, Osteomyelitis, Periodontitis, Rectal abscess, Leukocytosis	OMIM:116920
Polymerase Proofreading-Related Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of th...	ORPHA:447877
Oculotrichoanal Syndrome	Anteriorly placed anus, Abnormal hair pattern, Anal stenosis	ORPHA:2717
Ebstein Anomaly	Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s...	OMIM:224700
Mismatch Repair Cancer Syndrome 3	Colon cancer, Neoplasm of the rectum	OMIM:619097
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening	OMIM:122880
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M...	ORPHA:103918
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele, Absent hair, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Flexion contra...	ORPHA:1010
Aprosencephaly And Cerebellar Dysgenesis	Micrognathia, Bifid uvula, Craniosynostosis, Aprosencephaly	OMIM:601374
Aprosencephaly Syndrome	Hand oligodactyly, Anencephaly, Aprosencephaly	OMIM:207770

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 Chtop

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 Chtop.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Chtop^{tm1a(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Chtop^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Chtop^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Chtop^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Chtop^{tm1a(EUCOMM)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Chtop^{tm1a(EUCOMM)Wtsi}	PMC5159622

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MGI Allele	Allele Type	Produced
Chtop^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Chtop^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Chtop^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Chtop MGI:1913761

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Anti-nuclear antibody assay

Eye Morphology

X-ray

X-ray

X-ray

X-ray

X-ray

DSS Histology

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Chtop mutations

Histopathology

IMPC related publications

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