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Gene: Mosmo MGI:2446240

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
modulator of smoothened
Synonyms:
BC030336

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Mosmo 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.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal lung morphology, Abnormal thorax morphology, Abnormal heart morphology, Uppe... ORPHA:294975
16P13.11 Microduplication Syndrome
Pes planus, Ventricular septal defect, Arachnodactyly, Pectus excavatum, Coarctation of aorta, Ha... ORPHA:261243
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Hydrocephalus, Isomerism... OMIM:314390
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Abdom... OMIM:605376
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia ORPHA:66630
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger OMIM:601355
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Brachydactyly, Ventricular septal defect, Short thumb, Ab... ORPHA:401935
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Bilateral sing... OMIM:619657
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus... ORPHA:1972
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Bilateral single transverse palmar creases, Micrognathia, Abnormal lun... ORPHA:2516
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Femoral bowing, Stillbirth, A... OMIM:615415
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Right aortic arch, Transposition of the great arteries, ... OMIM:231060
Dextrocardia
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal foot morphology, Hydro... ORPHA:1666
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Rib fusion, Short ri... OMIM:173800
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out... OMIM:620294
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... OMIM:306955
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinatum, Aortic root an... OMIM:619910
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia OMIM:611884
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Mesoaxial hand polydactyly, Situs i... OMIM:615994
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop... ORPHA:3426
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Abnormal cardiac septum mor... ORPHA:1937
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ... OMIM:201000
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:614679
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal r... ORPHA:1354
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus arteriosus, Brachydactyly OMIM:616589
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Sandal gap, Pectus excavatum, Short toe, Perimembranous ventricular septal defe... OMIM:617877
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Lateral clavicle hook, Preaxial pol... OMIM:615503
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Dextrocardia, Missing ribs, Meningocele, Abnormal tricuspid valve morpho... ORPHA:1759
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Missing ribs, ... OMIM:613686
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... ORPHA:3097
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Micro... OMIM:618142
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Bilateral single transverse palmar creases, Proximal placement of thumb, S... ORPHA:1120
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, Transposition of the great arteries, Atrial septal defec... ORPHA:1913
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Acropectoral Syndrome
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... OMIM:605967
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Diabetic Embryopathy
Ventricular septal defect, Micrognathia, Hydrocephalus, Tetralogy of Fallot, Spinal dysraphism, A... ORPHA:1926
Czeizel-Losonci Syndrome
Hitchhiker thumb, Dextrocardia, Single transverse palmar crease, Micrognathia, Spina bifida, Myel... ORPHA:2437
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Right atrial isomerism, Absence of the sacrum, Ventricular septal defect... OMIM:270100
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... OMIM:615297
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta OMIM:140850
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... ORPHA:391646
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Pes planus, Proximal placement of thumb, Tapered finger, Micrognathia, Pulm... ORPHA:251071
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Dextrocardia, Micrognathia, Patent ductus arteriosus, Brachydactyly ORPHA:2863
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... OMIM:618300
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... OMIM:614326
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... ORPHA:392
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... OMIM:613807
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Missing ribs, Micrognathia, Hydrocephalus, Double outlet r... OMIM:220210
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:606763
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Absent thumb, Micrognathia, Short thumb, Patent ductus arteriosus, 2-3... OMIM:617516
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Recurrent respiratory infections, Ventricular septal defect, Overlapping toe, Parachute... OMIM:618316
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Mitral stenosis, Cam... ORPHA:2008
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Micrognathia, Pectus excavatum, Patent ductus arteriosus, Joint contra... OMIM:179613
Bardet-Biedl Syndrome 8
Situs inversus totalis, Postaxial polydactyly OMIM:615985
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Hip dislocation, Short 5th finger,... OMIM:615583
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... ORPHA:1461
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... OMIM:249670
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Pectus excavatum, Microgna... ORPHA:1388
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Talipes equinovarus, Clinodactyly, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Microphthalmia, Syndromic 9
Ventricular septal defect, Micrognathia, Agenesis of pulmonary vessels, Patent ductus arteriosus,... OMIM:601186
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Micromelia, Situs inver... ORPHA:289
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous return, Right aort... OMIM:617478
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Synostosis of carpal bones, Encepha... ORPHA:90652
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Tal... ORPHA:1908
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Transposition of the ... OMIM:313850
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect, Micrognathia ORPHA:1918
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Complete atrioventricular canal defec... OMIM:617925
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Single transverse palmar crease, Micrognathia, Patent ductus arteriosus, 2-3 to... ORPHA:3304
22Q11.2 Duplication Syndrome
Ventricular septal defect, Micrognathia, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect OMIM:235750
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricul... OMIM:264480
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... OMIM:217085
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries, Ankle clonus, Pes valgus, B... OMIM:619995
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Single transverse ... OMIM:618619
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Micrognathia, Secundum atrial septal defect, Pneu... ORPHA:2257
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Sonoda Syndrome
High axial triradius, Ventricular septal defect OMIM:270460
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polyd... OMIM:263520
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Clinodactyly of the 5th finger, Ventricular septal defect, Dextrocardia OMIM:618067
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly OMIM:300484
Emanuel Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Truncus ... OMIM:609029
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Thoracic kyphosis, Short palm, Clinodact... ORPHA:508498
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Pes planus, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Abnor... ORPHA:477817
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Abdominal situs inversus, Pulmonic stenosis, Camptodacty... OMIM:619123
Distal 22Q11.2 Microdeletion Syndrome
Recurrent respiratory infections, Bowing of the long bones, Toe syndactyly, Ventricular septal de... ORPHA:261330
Ververi-Brady Syndrome
Clinodactyly of the 5th finger, Transposition of the great arteries, Metaphyseal irregularity OMIM:617982
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Long thorax, Limb und... OMIM:619142
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot, Brachydactyly ORPHA:3303
Floating-Harbor Syndrome
11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short middl... OMIM:136140
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal heart... ORPHA:356961
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Rocker bottom foot, Cam... ORPHA:99776
Emanuel Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Truncus ... ORPHA:96170
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... OMIM:615996
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:253300
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Spina bifi... OMIM:607323
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm... ORPHA:2911
Renpenning Syndrome
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Heterotaxy, Clinodactyly of... ORPHA:3242
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Sandal gap, Rhizomelia, Patent ductus arteriosus, Recurrent upper res... OMIM:607143
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... OMIM:142900
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Carpenter Syndrome 2
Single transverse palmar crease, Preaxial polydactyly, Coxa vara, Pectus carinatum, Knee flexion ... OMIM:614976
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Encephalocele, Rhizomelia, Postaxial polydactyly, Patent ductus arteriosus, Sq... OMIM:616300
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Rib fusio... OMIM:134780
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Aplasia/Hypoplasia of fingers, Brachydactyly ORPHA:1919
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:300991
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Mmep Syndrome
Split foot, Ventricular septal defect, Triphalangeal thumb ORPHA:3434
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Postaxial polydactyly, Micromelia, Hydrocephalus, Preaxial polydactyly, Anence... OMIM:616546
Nemaline Myopathy 9
Ventricular septal defect, Narrow chest, Micrognathia OMIM:615731
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal foot morphology, Preaxial polydactyly, ... ORPHA:64754
Microcephaly-Cardiomyopathy Syndrome
Sandal gap, Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger ORPHA:2515
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Situs inversus totalis,... OMIM:609008
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, Femoral bowing,... OMIM:620076
Fetal Encasement Syndrome
Bilateral trilobed lung, Tetralogy of Fallot, Upper limb undergrowth, Lower limb undergrowth OMIM:613630
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... OMIM:616145
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Intellectual Developmental Disorder, Autosomal Recessive 73
Pes planus, Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus,... OMIM:619717
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovarus, Tetralogy of Fallot ORPHA:250994
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... ORPHA:2538
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, La... OMIM:617895
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Marden-Walker Syndrome
Arachnodactyly, Dextrocardia, Micrognathia, Radioulnar synostosis, Abnormal sternum morphology, P... OMIM:248700
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving ... ORPHA:371428
Intellectual Developmental Disorder, Autosomal Recessive 79
Pes planus, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger... OMIM:620393
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Ventricular septal defect, Spina bifida, Absent radius, Shor... OMIM:192350
Desbuquois Syndrome
Ventricular septal defect, Camptodactyly of finger, Genu recurvatum, Coxa valga, Elbow dislocatio... ORPHA:1425
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... ORPHA:508488
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Hydroc... ORPHA:83473
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epip... ORPHA:2044
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Ventricular septal defect OMIM:614876
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Pulmonary artery s... OMIM:600001
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Missing ribs, Micrognathia, Humeroradial synostosis, Aqu... OMIM:251230
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finger ... OMIM:256520
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... OMIM:201170
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Micrognathia, Hypo... ORPHA:96097
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... ORPHA:2476
Omodysplasia 1
Short humerus, Ventricular septal defect, Increased fibular diameter, Rhizomelia, Micrognathia, L... OMIM:258315
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Yuan-Harel-Lupski Syndrome
Pes planus, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Talipes equinovalgus, A... OMIM:616652
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Toe clinodactyly ORPHA:261120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Calf muscle hypertroph... OMIM:253800
Grange Syndrome
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm ORPHA:79094
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, Talipes equinovarus, Short tibia OMIM:620306
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol... OMIM:258860
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... ORPHA:2876
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Talipes, Abnormal tibi... ORPHA:1335
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Pulmonary sequestration, A... OMIM:618330
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Micrognathia, Abnormal aortic arch morphology, Tibial bowing, Na... ORPHA:96334
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip dislocation, Fibu... OMIM:605274
Chime Syndrome
Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... ORPHA:3474
Microphthalmia With Limb Anomalies
Micrognathia, Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligoda... ORPHA:1106
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Micrognathia, Rib fusion, Abnormal heart morphology, Hand polydactyly, Abnormal aor... ORPHA:261197
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... OMIM:601559
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Postaxial polydactyly, Missing ribs, Hypoplastic ... OMIM:617866
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Mirror Movements 3
Situs inversus totalis OMIM:616059
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplas... OMIM:113000
Microphthalmia, Syndromic 12
Ventricular septal defect, Micrognathia, Hypoplastic left atrium, Pulmonary hypoplasia, Neonatal ... OMIM:615524
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Pectus excavatum, Tetra... OMIM:618624
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Arachnodactyly, Camptodactyly of finger, Situs inversus ... ORPHA:2461
Down Syndrome
Short palm, Ventricular septal defect, Sandal gap, Single transverse palmar crease, Short middle ... OMIM:190685
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis OMIM:615451
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Rocker bottom foot, Coxa valga, Talipes equinovalgus, Postaxial hand p... OMIM:301056
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Clinodactyly, Abnorma... ORPHA:2209
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Dextrocardia, Micrognathia, Pectus excavatum, Long fingers, Hip disloc... ORPHA:96092
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Micrognathia, Abnormal aortic morphology, Abnormal hip bone morphology... ORPHA:1166
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, Rhizomelia, Pr... ORPHA:93267
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... ORPHA:3098
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Long foot, Broad 2nd toe, Pectus excavatum, Pulmonary artery stenosis,... OMIM:280000
Joubert Syndrome With Ocular Defect
Encephalocele, Dextrocardia, Hydrocephalus, Hand polydactyly, Foot polydactyly ORPHA:220493
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Ventricular septal defect, Broad hallux, Sandal gap, Secundum atrial septal def... OMIM:600987
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos... OMIM:614815
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... ORPHA:1780
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect OMIM:249270
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Lateral clavicle hook, Postaxial hand polydactyly, Hydrocephalus, Cone... OMIM:615630
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double outlet right ventricle, Supravalva... OMIM:618164
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Micrognathia, Central Y-shaped metacarpal, Preaxial polydactyl... ORPHA:2754
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Hydrocephalus, Ventricular septal defect, Polydactyly OMIM:602501
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax... OMIM:210710
Constricting Bands, Congenital
Encephalocele, Syndactyly, Abnormal lung lobation, Abnormal rib cage morphology, Hand polydactyly... OMIM:217100
Diets-Jongmans Syndrome
Ventricular septal defect, Heterotaxy, Interrupted inferior vena cava with azygous continuation, ... OMIM:618846
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Sprengel anomaly, Dextrocardia, Coarctation of aorta OMIM:618929
Li-Campeau Syndrome
Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus, Patellar hy... OMIM:619189
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Pectus excavatum, Long fingers, Coronary artery fistula,... OMIM:614294
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Patent ductus arteriosus, Postaxial hand polydacty... ORPHA:65759
Lambotte Syndrome
Preaxial foot polydactyly, Ventricular septal defect, Semilobar holoprosencephaly OMIM:245552
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu... ORPHA:2751
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Micrognathia OMIM:608227
Hydrolethalus Syndrome 1
Ventricular septal defect, Micrognathia, Complete atrioventricular canal defect, Preaxial hand po... OMIM:236680
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Short thumb, Patent ductus arte... OMIM:612561
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Dextrocardia, Camptodactyly of fing... ORPHA:1662
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Abnormal heart morphology, Abn... ORPHA:2847
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis OMIM:613193
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot ORPHA:217
Frank-Ter Haar Syndrome
Bowing of the long bones, Ventricular septal defect, Micrognathia, Secundum atrial septal defect,... OMIM:249420
Limb Body Wall Complex
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Atrial septal defect,... ORPHA:2369
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615504
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Ventricular septal defect, Aplasia/Hypopl... ORPHA:94066
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Pes planus, Scapular winging, Ventricular septal defect, Monkey wrench femoral... OMIM:618870
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615505
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Atrial septal defect, Arac... ORPHA:567
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia, Bilateral single transverse palmar creases ORPHA:3033
Endocrine-Cerebroosteodysplasia
Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si... OMIM:612651
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect ORPHA:3469
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Hypoplastic frontal sinuses, Anterior basal encephalocele, Pectoral m... OMIM:136760
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis OMIM:617092
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Pectus carinatum, Narrow greater sciatic notch, Short palm, Atrial septal... OMIM:312870
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly, Holoprosenceph... OMIM:601357
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Prominent fingertip pads, C... OMIM:612474
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia OMIM:258865
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Polydactyly, Talipes equinovarus, N... OMIM:613885
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Micrognathia, Pectus carinatum, Knee flexion contracture, Atrial septal de... OMIM:121050
Weill-Marchesani Syndrome
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly ORPHA:3449
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the f... ORPHA:2256
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventricular canal d... OMIM:619343
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clinodactyly of the 5th fin... OMIM:618974
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegal... OMIM:617022
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Single tran... OMIM:303600
Roifman Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Ventricular septal defect, Singl... OMIM:616651
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P... OMIM:228520
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot OMIM:618506
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... OMIM:616276
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Cutaneo... OMIM:601005
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H... OMIM:611134
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thora... OMIM:615633
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology ORPHA:276422
Prune Belly Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Pectus e... ORPHA:2970
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Preaxial hand polydactyly, Interphalangeal joint contracture of finger, Knee flexion contracture OMIM:606242
Pelger-Huet Anomaly
Ventricular septal defect, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical h... OMIM:169400
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis OMIM:614874
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Single transverse palmar crease, Micrognathia, Double outl... ORPHA:1596
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis OMIM:612444
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Cardiomegaly, B... OMIM:616897
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Abnormal rib morphology, Abnormal shoulder morphology, S... ORPHA:2345
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Hydrocephalus OMIM:614886
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis OMIM:614017
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Pes cavus, Ventricular septal defect, Overlapping toe, Patent d... ORPHA:163956
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Mesoaxial hand polydactyly... ORPHA:46627
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Prominent fingertip pads, Pes planus, Bicuspid aortic valve, Arachnodactyly, Postaxial polydactyl... OMIM:619721
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Short foot ORPHA:228399
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Woods Syndrome
3-4 finger cutaneous syndactyly, Limited elbow extension, Ventricular septal defect, Single trans... OMIM:615236
Kyphoscoliotic Ehlers-Danlos Syndrome
Pes planus, Congenital hip dislocation, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage,... ORPHA:536545
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart, Abnormal rib morphology, Micromelia ORPHA:2772
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short palm, Neonatal dea... OMIM:269860
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615500
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Dilation of Virchow-Robin spaces, Preaxial polydactyly, Preaxial foot ... OMIM:603671
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Abnormal thorax morphology, Patent ductus arteriosus, Anomalous pulm... ORPHA:2184
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal fibula morpho... ORPHA:1988
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Patent ductus arteriosus, Dextrocardia, Talipes equinovarus OMIM:277380
Mosaic Trisomy 16
Syndactyly, Ventricular septal defect, Single transverse palmar crease, Short thumb, Abnormal lun... ORPHA:1708
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Aplasia/Hypoplasia of the lungs, Trip... ORPHA:2549
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Suleiman-El-Hattab Syndrome
Microretrognathia, Recurrent respiratory infections, Ventricular septal defect, Single transverse... OMIM:618950
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... OMIM:300963
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi... ORPHA:2438
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Vascular rin... OMIM:603387
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... OMIM:274000
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valg... OMIM:620073
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered finger, Overlapping... ORPHA:435638
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:612650
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Single transverse palm... OMIM:311900
Kagami-Ogata Syndrome
Long clavicles, Ventricular septal defect, Coxa valga, Micrognathia, Long fingers, Patent ductus ... OMIM:608149
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Sandal gap OMIM:300887
3C Syndrome
Recurrent respiratory infections, Finger syndactyly, Ventricular septal defect, Abnormal mitral v... ORPHA:7
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:616481
Agnathia-Otocephaly Complex
Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia, Holopr... OMIM:202650
Neurooculorenal Syndrome
Dextrocardia, Short hallux, Micrognathia, Aqueductal stenosis, Short 1st metacarpal, Hydrocephalu... OMIM:620305
Filippi Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact... OMIM:272440
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... ORPHA:1278
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Arachnodactyly, Ventricular septal defect, Pectus excavatum, Pectus carinatum, Aortic root aneury... OMIM:301039
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Trisomy 1Q
Microretrognathia, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of fi... ORPHA:261344
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Polydactyly OMIM:615993
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Broad hallux, Sandal gap, Patent ductus arteriosus, Hypo... OMIM:300166
Hypoglossia With Situs Inversus
Situs inversus totalis, Micrognathia OMIM:612776
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Abnormal sternum morpholog... OMIM:615355
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... OMIM:608647
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Genu valgum ORPHA:1381
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finge... ORPHA:3306
Aase-Smith Syndrome I
Talipes equinovarus, Hydrocephalus, Ventricular septal defect, Slender finger OMIM:147800
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb ORPHA:2091
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Recurrent respiratory infections, Hypoplastic pubic ramus, Abnorm... ORPHA:280
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... OMIM:617201
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, Ventricular septal defect OMIM:314320
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Interphalangeal thumb joint ... OMIM:613870
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Pes planus, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Complete atrioven... ORPHA:476126
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Bronchiectasis, Abd... OMIM:618699
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:614935
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Abnormal rib mor... ORPHA:2519
Atelosteogenesis Type Iii
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... ORPHA:56305
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... ORPHA:500159
Wolcott-Rallison Syndrome
Atrial septal defect, Metaphyseal dysplasia, Double outlet right ventricle ORPHA:1667
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Abnormal metaphysis mo... ORPHA:290
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Mosaic Trisomy 1
Thoracic scoliosis, Single transverse palmar crease, Finger clinodactyly, Pulmonary artery atresi... ORPHA:1692
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Delpire-Mcneill Syndrome
Ventricular septal defect, Hip dislocation OMIM:619083
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab... ORPHA:1488
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Fifth finger distal phalanx clinodactyly ORPHA:3369
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Dextrocardia ORPHA:2315
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... ORPHA:1540
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Talipes, Postax... OMIM:619879
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Large hands ORPHA:85287
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... ORPHA:2326
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Ch... OMIM:613808
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Ventricular septal defect, ... OMIM:211750
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Pes planus, Ventricular septal defect, Bicuspid aortic valve, Single transverse palmar crease, Pe... ORPHA:329224
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Talipes, Ab... ORPHA:974
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Small hand, Short foot, Brachydactyly OMIM:617450
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Pectus carinatum, Tib... OMIM:223800
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Cervical ribs, Ventricular septal defect, Pectus carinatum OMIM:609654
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Diamond-Blackfan Anemia 21
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial ha... OMIM:620072
Meckel Syndrome, Type 7
Situs inversus totalis, Patent ductus arteriosus, Postaxial foot polydactyly, Atrial septal defec... OMIM:267010
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Ventricular septal defect, Single transverse palmar crease, Microg... OMIM:618348
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Mi... ORPHA:958
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Large placenta, Abnormal heart morphology, Coat hanger sign of ribs, U... ORPHA:254534
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Pectus excavatum, Pulmonary art... ORPHA:96167
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Sprengel anomaly, Contracture of the proximal interphalangeal joint of ... OMIM:618223
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly, Ventricular septal defect, Hydrocephalus, Vascular dilatation OMIM:219730
Vacterl/Vater Association
Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Abnormal rib morphology, A... ORPHA:887
Warsaw Breakage Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Clinodactyly of t... OMIM:613398
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Knobloch Syndrome
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Dextrocardia ORPHA:1571
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa... OMIM:617102
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta... OMIM:206920
Hydrolethalus Syndrome 2
Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly,... OMIM:614120
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Ventricular septal defect, Rocker bottom foot, Pectus excavatum, Patent ductus arterio... OMIM:612582
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... OMIM:119800
Tetrasomy 9P
Aplasia/Hypoplasia of the clavicles, Pericarditis, Juxtaductal coarctation of the aorta, Hypoplas... ORPHA:3310
Trisomy 13
Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Abnormal lung lo... ORPHA:3378
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Ventricular septal defect, Coarctation of aorta OMIM:620210
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Coarctation of aorta, Abnor... OMIM:618494
Orofaciodigital Syndrome Xiv
Microretrognathia, Occipital encephalocele, Ventricular septal defect, Broad hallux, Micrognathia... OMIM:615948
Hamamy Syndrome
Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Pectus excavatum, Complete atrioven... OMIM:611174
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Clinodactyly... OMIM:620113
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Equinovarus deformity,... ORPHA:3078
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnormality of the palmar crea... OMIM:618652
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pectus excavatum, Pulmonic stenosis, Atrial septal defect, Hypertrophi... OMIM:615279
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... OMIM:619534
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Sandal gap, Micrognathia, Pectus excavatum, Small hand, Short foot, Ab... OMIM:270450
Familial Visceral Myopathy
Arachnodactyly, Camptodactyly of finger, Micrognathia, Abdominal situs inversus, Narrow chest, Um... ORPHA:2604
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Joubert Syndrome
Encephalocele, Situs inversus totalis, Hydrocephalus, Hand polydactyly, Foot polydactyly ORPHA:475
Ulnar-Mammary Syndrome
Abnormal clavicle morphology, Abnormal morphology of the radius, Ventricular septal defect, Campt... ORPHA:3138
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Micrognathia, Alobar holoprosencephaly, Patent ductus arteriosus, Hypo... OMIM:301043
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Ventricular septal defect, Bowing of the legs, Aplasia/Hypoplasia of the p... OMIM:617063
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly,... OMIM:614091
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Ve... OMIM:108720
Chromosome 5Q12 Deletion Syndrome
Long toe, Ventricular septal defect, Micrognathia, Long fingers, Patent ductus arteriosus, Atrial... OMIM:615668
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly, Talipes, Abnormal heart morphology ORPHA:531151
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... OMIM:126320
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Postaxial hand polyda... ORPHA:75389
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flat acetabular roof, Coarct... OMIM:617159
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Spina bifida, Situs inversus totalis, Meningocele, A... ORPHA:991
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Patent ductus arteriosus, Postax... ORPHA:2473
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Micrognathia ORPHA:398156
Klippel-Feil Syndrome 2, Autosomal Recessive
Sprengel anomaly, Ventricular septal defect OMIM:214300
Trisomy 4P
Preaxial hand polydactyly, Radial club hand, Camptodactyly of finger ORPHA:1738
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Small hand, Talipes equinovarus, Camptodactyly,... OMIM:619980
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Flattened epiphysis, Pectus carinatum, Ge... OMIM:607131
Tarp Syndrome
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Sin... ORPHA:2886
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Johnson Neuroectodermal Syndrome
Preaxial hand polydactyly, Tetralogy of Fallot, Hand polydactyly ORPHA:2316
Nephrotic Syndrome, Type 11
Arachnodactyly, Ventricular septal defect, Micrognathia, Partial duplication of thumb phalanx, Di... OMIM:616730
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Holoprosencephaly 14
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... OMIM:619895
Diamond-Blackfan Anemia 12
Ventricular septal defect, Triphalangeal thumb OMIM:615550
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Ventricular septal defect, Atrial septal defect, Clinodactyly, Patent foramen oval... OMIM:614261
Giant Cell Arteritis
Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis, Aortic dissection, D... ORPHA:397
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... OMIM:619503
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Kury-Isidor Syndrome
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi... OMIM:619762
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,... OMIM:612562
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Drumstick terminal phalanges,... OMIM:612938
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Sandal gap, Single transverse palmar crease, Tapered... OMIM:617061
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Hydrocephalus, Abnormal lung l... OMIM:300514
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Tetraamelia Syndrome 2
Microretrognathia, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary veins, Bilatera... OMIM:618021
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand... OMIM:146510
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Pectus... OMIM:605275
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patell... OMIM:114290
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Postaxial polydactyly, Micrognathia, Lower limb asymmetry, 2-3 toe syn... ORPHA:404440
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M... OMIM:227270
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Finger syndactyly, Spina bifida, Patent ductus arteriosus, Split... ORPHA:2092
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Plantar pits, Irregular ossific... OMIM:109400
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... OMIM:271640
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Abnormal pelvic girdle b... ORPHA:1458
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, ... OMIM:610536
Apert Syndrome
Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal defect, Limited elbow movemen... OMIM:101200
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Ventricular septal defect ORPHA:49827
Orofaciodigital Syndrome V
Recurrent respiratory infections, Ventricular septal defect, Sandal gap, Postaxial polydactyly, P... OMIM:174300
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cutaneous finger syndactyly, Short palm, Hypoplastic iliac wing, Atrial septal defect, Spina bifi... OMIM:235510
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Brachydactyly, Ventricular septal defect, Large hands, Umbilical hernia, Broad thumb, Bilateral s... ORPHA:1770
Mohr Syndrome
Syndactyly, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyly... OMIM:252100
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Split hand, Clubbin... OMIM:600460
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Abnormality of the hand, Abnormal foot morphology, Abnorma... ORPHA:369891
Congenital Sialidosis Type 2
Respiratory tract infection, Hydrocephalus, Abnormal heart morphology, Umbilical hernia, Polydact... ORPHA:93400
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Pectus carinatum, Right ventricula... OMIM:619472
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect, Bronchiectasis OMIM:620184
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Ventricular septal defec... ORPHA:505237
Skraban-Deardorff Syndrome
Right aortic arch, Pes cavus, Ventricular septal defect, Micrognathia OMIM:617616
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Rhizomelia, Coxa valga, Bowing of the legs, Micrognathia, Metaphyseal ... OMIM:617164
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Holoprosencephaly, Mandibular aplasia ORPHA:990
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Micrognathia, Small hand, Broad palm, Aortic root aneurysm, Pulmonary ... OMIM:145420
Congenital Heart Defects And Skeletal Malformations Syndrome
Pes planus, Ventricular septal defect, Repeated pneumothoraces, Arachnodactyly, Sandal gap, Pectu... OMIM:617602
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... OMIM:619769
Charge Syndrome
Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septal defect, Hand monodactyly, H... OMIM:214800
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Overlapping toe, Ventricular septal defect, Down-sloping shoulders, Tapered finger, Talipes equin... OMIM:617452
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Lateral humeral condyle... OMIM:164900
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger,... ORPHA:3255
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Preaxial hand polydactyly, Micrognathia ORPHA:79113
Digeorge Syndrome
Ventricular septal defect, Micrognathia, Atelectasis, Patent ductus arteriosus, Recurrent pneumon... OMIM:188400
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... OMIM:154400
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Patent ductus arteriosus, Short 5th finger, Clinodactyly of the 5th fi... OMIM:220500
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Postaxial polydactyly, Micrognathia, Tapered finger, Atrioventricular canal defect OMIM:613792
Autosomal Recessive Robinow Syndrome
Micrognathia, Pectus carinatum, Abnormal tricuspid valve morphology, Clinodactyly of the 5th fing... ORPHA:1507
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Mitral va... OMIM:616564
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, R... OMIM:210720
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... OMIM:171480
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Absent frontal sinus... OMIM:244400
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... ORPHA:2306
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Micrognathia, Recurrent pneumonia, Abnormal heart morphology, Polydactyly, Aspiration pneumonia ORPHA:314655
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Single transverse palmar crease, Short thumb,... OMIM:244300
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, Short phalanx of finger, ... OMIM:143095
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Pectus excavatum, Clinodactyly of the 5th finge... OMIM:618027
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie... OMIM:620025
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa... ORPHA:508533
Tyshchenko Syndrome
Ventricular septal defect, Pectus excavatum, Narrow chest, Pulmonic stenosis, Atrial septal defect OMIM:615102
Larsen Syndrome
Short metacarpal, Ventricular septal defect, Spatulate thumbs, Pectus excavatum, Talipes equinova... OMIM:150250
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Ventricular septal defect, Pectus excavatum, 3-4 finger cutaneous syndactyly, Pulmona... OMIM:612530
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Occipital Horn Syndrome
Venous insufficiency, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large... ORPHA:198
Alagille Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Abnormal rib morphology, Clinoda... ORPHA:52
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Ventricular septal defect, Abnormal morp... ORPHA:251014
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Intr... OMIM:614424
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, 2-3 toe syndactyly, Micrognathia OMIM:608572
Joubert Syndrome 39
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... OMIM:619562
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect, Micrognathia OMIM:243440
Craniofacioskeletal Syndrome
Barrel-shaped chest, Pes planus, Ventricular septal defect, Micrognathia, Patent ductus arteriosu... OMIM:300712
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Serkal Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Oculodentodigital Dysplasia
Abnormal clavicle morphology, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Campt... ORPHA:2710
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Finger syndactyly, Congenital hip dislocation, Ventricular sept... ORPHA:217346
Meckel Syndrome
Encephalocele, Bowing of the long bones, Talipes, Micrognathia, Situs inversus totalis, Preaxial ... ORPHA:564
19P13.3 Microduplication Syndrome
Ventricular septal defect, Micrognathia, Long fingers, Hip dislocation, Hip dysplasia, Clinodacty... ORPHA:447980
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Postaxial polydactyly, Patent ductus arteriosus, Hydrocephalus, Hip dy... OMIM:614576
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... OMIM:304120
Cerebrocostomandibular Syndrome
Hydranencephaly, Ventricular septal defect, Spina bifida, Micrognathia, Myelomeningocele, Meningo... ORPHA:1393
Saul-Wilson Syndrome
Enlarged epiphyses, Prominent superficial veins, Short metacarpal, Pseudoepiphyses of the metacar... OMIM:618150
Cat Eye Syndrome
Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, Hypoplastic lef... OMIM:115470
Leopard Syndrome 1
Scapular winging, Limited elbow movement, Missing ribs, Pectus excavatum, Complete atrioventricul... OMIM:151100
X Small Rings
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Tapered finger, 2-3 toe syndact... ORPHA:96201
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Pes planus, Ventricular septal defect, Rocker bottom foot, Camptodactyly of finger... OMIM:602782
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Calcaneal epiphyseal stippling, Abno... ORPHA:79345
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Talipes, Single transverse palmar crease, Limb undergrowth, Pes cavus,... ORPHA:79243
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Rhizomelia, Single transverse palmar crease, Micrognathia, Abnormal lu... OMIM:614114
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Micrognathia, Aqueductal stenosis, Abnormality of the lo... ORPHA:3035
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Pes planus, Short metacarpal, Ventricular septal defect, Micrognathia, Metaphyseal... ORPHA:166035
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Velocardiofacial Syndrome
Ventricular septal defect, Talipes, Abnormality of the hand, Interrupted aortic arch, Unilateral ... OMIM:192430
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Chromosome 9P Deletion Syndrome
Long toe, Pes planus, Ventricular septal defect, Sandal gap, Hallux varus, Tapered finger, Microg... OMIM:158170
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Ventricular septal defect, Overlapping toe, Single transverse palmar crease, B... ORPHA:464738
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Pes planus, Toe syndactyly, Absence of the pulmonary valve, Ven... OMIM:601808
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Holoprosenc... ORPHA:77298
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus OMIM:218350
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Hypoplasia of the ulna, Lateral clavicle hook, Early ossificati... OMIM:208500
Cerebellofaciodental Syndrome
Pes planus, Ventricular septal defect, Single transverse palmar crease, Tapered finger, Shortenin... OMIM:616202
Braddock Syndrome
Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Missing ribs, Pulmonary fibrosis ORPHA:52047
Dysosteosclerosis
Hypoplastic vertebral bodies, Abnormal metaphysis morphology, Ventricular septal defect, Coarse m... ORPHA:1782
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Ab... ORPHA:2331
Melnick-Needles Syndrome
Micrognathia, Tibial bowing, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand, Sh... OMIM:309350
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Missing ribs, Micrognathia, Split h... OMIM:200980
Cntnap2-Related Developmental And Epileptic Encephalopathy
Pes cavus, Preaxial polydactyly ORPHA:163681
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Arachnodactyly, Ventricular septal defect, Micrognathia,... OMIM:309520
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Microretrognathia, Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of th... OMIM:300998
Congenital Gerbode Defect
Ventricular septal defect, Ankle swelling, Right atrial enlargement, Pedal edema, Perimembranous ... ORPHA:99095
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Stromme Syndrome
Hydrocephalus, Stillbirth, Preaxial polydactyly, Micrognathia OMIM:243605
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... ORPHA:95430
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Large hands, Abdominal situs inversus, Micrognathia ORPHA:2062
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Microretrogna... OMIM:619909
Complete Atrioventricular Septal Defect
Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum atrial septal d... ORPHA:1329
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Abnormal lung lobation, Posterior ri... OMIM:265380
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry, Lower limb asymmetry ORPHA:231140
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the rad... OMIM:609053
Trisomy 8P
Short fourth metatarsal, Brachydactyly, Short fifth metatarsal, Abnormal atrioventricular connect... ORPHA:264450
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... OMIM:600373
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Postaxial polydactyly, Tapered finger, Lower limb asymmetry, Pa... OMIM:300968
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... ORPHA:2211
Pseudoaminopterin Syndrome
Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyl... ORPHA:221120
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Pulmonary artery hypop... OMIM:616777
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Deep plantar creases,... ORPHA:254346
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Ventricular septal defect, Pectus excavatum, Abnormal stern... OMIM:610733
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery... OMIM:100300
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Broad palm, Pulmonic stenosis, Broad phalang... OMIM:277600
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Single tr... OMIM:272950
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia OMIM:607598
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Hip contracture, Ventricular septal defect, Tarsal synostosis, Elbow flexion... OMIM:178110
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Beck-Fahrner Syndrome
Pes planus, Hip dysplasia, Ventricular septal defect, Cardiomegaly OMIM:618798
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Ventricular septal defect, Sandal gap, Tapered finger, Pectus ... ORPHA:193
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Ventricular septal defect, Arachnodactyly, Micrognathia, Pectus excav... OMIM:300373
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Doors Syndrome
11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Equinovarus deformity, Abno... ORPHA:79500
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Isolated Cleft Lip
Situs inversus totalis, Umbilical hernia, Talipes equinovarus ORPHA:199302
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Mi... OMIM:610759
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Nephronophthisis 15
Polydactyly OMIM:614845
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Patent ductus arteriosus, Short metatarsal, Broad pa... OMIM:608328
Ogden Syndrome
Microretrognathia, Broad hallux, Pulmonary artery stenosis, Ventricular septal defect ORPHA:276432
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,... ORPHA:1788
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Patent duct... ORPHA:354
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndac... OMIM:107480
Colonic Atresia
Abdominal situs inversus ORPHA:1198
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea... OMIM:619471
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... ORPHA:397715
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... OMIM:610978
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arter... OMIM:616894
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Bra... ORPHA:457193
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Pectus excavatum, Talipes ... ORPHA:261236
De Barsy Syndrome
Recurrent sinopulmonary infections, Congenital hip dislocation, Ventricular septal defect, Pectus... ORPHA:2962
Spondylo-Ocular Syndrome
Pes planus, Thoracic kyphosis, Ventricular septal defect ORPHA:85194
King-Denborough Syndrome
Thoracic kyphosis, Ventricular septal defect OMIM:619542
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Loeys-Dietz Syndrome 5
Pes planus, Scapular winging, Ventricular septal defect, Arachnodactyly, Pectus excavatum, Pectus... OMIM:615582
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Patellar subluxation, Umbilical hernia, Atrial septal defect, Talipes ... OMIM:615879
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale, Talipes equinovarus, Talipes valgus, Pes cavus OMIM:614961
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Patent ductus arteriosus, Postaxial hand polydactyly, Coarctation of aorta... OMIM:617088
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Rere-Related Neurodevelopmental Syndrome
Hip dysplasia, Micrognathia, Ventricular septal defect, Abnormal heart morphology ORPHA:494344
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect, Micrognathia ORPHA:452
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Micrognathia, Metaphyseal cho... OMIM:250410
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnormal right ventric... ORPHA:500095
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... OMIM:602535
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Single transverse palmar crease, Micrognathia, Aort... OMIM:180849
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... OMIM:607361
Hallermann-Streiff Syndrome
Micrognathia, Small hand, Short foot, Rib exostoses, Abdominal situs inversus, Short ribs, Clinod... ORPHA:2108
Acrocallosal Syndrome
Microretrognathia, Finger syndactyly, Toe syndactyly, Abnormal pulmonary valve morphology, Duplic... OMIM:200990
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect, Micrognathia OMIM:613680
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:2143
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the knee, Broad hallux, Ventricular septal defect, Micrognathia, Slender finger, S... ORPHA:251028
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Single transverse palmar crease, Recurrent pneumonia, 2-3 toe syndacty... OMIM:616449
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Fanconi Anemia, Complementation Group N
Short thumb, Ventricular septal defect OMIM:610832
3Mc Syndrome 1
Ventricular septal defect, Single interphalangeal crease of fifth finger, Patent ductus arteriosu... OMIM:257920
Intellectual Developmental Disorder, Autosomal Dominant 23
Sandal gap, Postaxial polydactyly, Lower limb asymmetry, Micrognathia, Broad distal phalanx of fi... OMIM:615761
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Micrognathia, Abnormal heart morphology, Deep palmar crease, Pol... OMIM:247200
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Recurrent pneumonia, Recur... OMIM:300472
Distal Deletion 19P
Long toe, Arachnodactyly, Ventricular septal defect, Tricuspid valve prolapse, Umbilical hernia, ... ORPHA:96129
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Bohring-Opitz Syndrome
Syndactyly, Ventricular septal defect, Overlapping toe, Ulnar deviation of the wrist, Tapered fin... OMIM:605039
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hip dysplasia, Ventricular septal defect, Talipes calcaneovalgus, Right ventricular hypertrophy OMIM:613404
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Pes planus, Ventricular septal defect, Rocker ... ORPHA:163979
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hip dysplasia, Deviation of... OMIM:616362
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, ... ORPHA:1827
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing ribs, Abnormal... ORPHA:3186
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... OMIM:611812
Heart And Brain Malformation Syndrome
Hand clenching, Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch OMIM:616920
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Thyroid lymphangiectasia, Micrognathia, Pancreatic lymphangiectasis, P... OMIM:235255
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Micrognathia, Talipes calcaneovalgus, Hip dysplasia, Atrial septal def... OMIM:208085
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Kleefstra Syndrome 1
Recurrent respiratory infections, Single transverse palmar crease, Conotruncal defect, Talipes eq... OMIM:610253
Sotos Syndrome
Pes planus, Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arterios... OMIM:117550
Keutel Syndrome
Peripheral pulmonary artery stenosis, Ventricular septal defect, Short hallux, Premature fusion o... OMIM:245150
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Trisomy 18
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Spina bifida, Abnormality ... ORPHA:3380
Renpenning Syndrome 1
Ventricular septal defect, Micrognathia, Situs inversus totalis, Pectus excavatum, Narrow foot, J... OMIM:309500
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Pectus excavatum, Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Narrow chest, Brachydactyly OMIM:613819
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Ventricular septal defec... OMIM:117650
Turnpenny-Fry Syndrome
Recurrent respiratory infections, Thoracic kyphoscoliosis, Overlapping toe, Tapered finger, Pectu... OMIM:618371
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Pectus excavatum, Patent ductus a... OMIM:130720
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... OMIM:249000
Ulnar-Mammary Syndrome
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Ventricular septal ... OMIM:181450
Dysosteosclerosis
Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Abnormal metaphyseal trabeculation, Fla... OMIM:224300
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Short thumb, Patent ductus arteriosus, Preaxial hand polydactyly, Pa... OMIM:227646
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Pes planus, Ventricular septal defect, Micrognathia OMIM:616901
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head, Chronic bronchitis OMIM:616629
Macrocephaly-Intellectual Disability-Autism Syndrome
Preaxial hand polydactyly, Foot polydactyly ORPHA:210548
Jacobsen Syndrome
Recurrent respiratory infections, Broad hallux phalanx, Finger syndactyly, Ventricular septal def... ORPHA:2308
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Pectu... OMIM:613458
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Short t... ORPHA:1519
Neurocardiofaciodigital Syndrome
Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, Polydactyly, Atrial septal def... OMIM:619869
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Hydrocephalus, Coarctation of aorta, Foot polydactyly, S... ORPHA:268249
Orofaciodigital Syndrome Type 5
Ectopic accessory finger-like appendage, Postaxial hand polydactyly, Postaxial foot polydactyly, ... ORPHA:2919
Costello Syndrome
Ventricular septal defect, Ulnar deviation of finger, Mitral valve prolapse, Pulmonic stenosis, T... ORPHA:3071
Koolen-De Vries Syndrome
Prominent fingertip pads, Ventricular septal defect, Bicuspid aortic valve, Pectus excavatum, Pat... OMIM:610443
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Single transverse pal... OMIM:214100
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:606003
Congenital Disorder Of Glycosylation, Type Iia
Pes planus, Ventricular septal defect, Thoracolumbar kyphoscoliosis, Proximal placement of thumb,... OMIM:212066
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Camptodactyly, Atrial septal defect, Clinodactyly, Spina bifida occulta OMIM:617360
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Micrognathia, Pectus excavatum, Patent ductus arteriosus, Recurrent pneum... OMIM:613610
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Short ... OMIM:311200
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Peri... OMIM:613001
Chops Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiratio... OMIM:616368
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morp... ORPHA:457279
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Talipes equinovarus OMIM:601389
Curry-Jones Syndrome
Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc... OMIM:601707
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Varicose veins, Chylothorax, T... OMIM:153400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Palmoplantar keratoderma, Ventricular septal defect, 2-3 toe syndactyly OMIM:106260
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Missing ribs, Pectus excavatum, Micr... OMIM:147791
Cranioectodermal Dysplasia 1
Recurrent respiratory infections, Brachydactyly, Broad toe, Bicuspid aortic valve, Short humerus,... OMIM:218330
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... OMIM:211350
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplas... OMIM:276820
Donnai-Barrow Syndrome
Short sternum, Umbilical hernia, Ventricular septal defect OMIM:222448
3Q29 Microduplication Syndrome
Camptodactyly of toe, Toe syndactyly, Ventricular septal defect, Sandal gap ORPHA:251038
Robinow Syndrome
Syndactyly, Brachydactyly, Ventricular septal defect, Bifid distal phalanx of the thumb, Missing ... ORPHA:97360
Radio-Tartaglia Syndrome
Pes planus, Ventricular septal defect, Micrognathia, Tapered finger, Pes cavus, Brachydactyly OMIM:619312
Townes-Brocks Syndrome
Broad hallux phalanx, Pes planus, Toe syndactyly, Abnormal pulmonary valve morphology, Lower limb... ORPHA:857
Diamond-Blackfan Anemia 1
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Absent thumb, Hypoplastic ilia, ... OMIM:105650
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Recurrent respiratory infections, Short humerus, Short femur, Patent ductus arteriosus, Coarctati... ORPHA:17
Orofaciodigital Syndrome Type 3
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Thoracic kyphosis, Shor... ORPHA:2752
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Patent ductus arteriosus, Pulmonary hypoplasia, Neonatal death, Atrial se... OMIM:208540
Cornelia De Lange Syndrome 1
Ventricular septal defect, Pneumonia, Proximal placement of thumb, Micromelia, Micrognathia, Sing... OMIM:122470
Mgat2-Cdg
Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Abnormal heart morphology,... ORPHA:79329
Noonan Syndrome 3
Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Mitral valve prolapse, Pec... OMIM:609942
Fryns Syndrome
Microretrognathia, Prominent fingertip pads, Ventricular septal defect, Rocker bottom foot, Proxi... OMIM:229850
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Micrognathia, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodacty... ORPHA:397590
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Prominent interphalangeal jo... OMIM:614609
Alg9-Cdg
Microretrognathia, Ulnar deviation of the hand, Ventricular septal defect, Rhizomelia, Micrognath... ORPHA:79328
Lateral Meningocele Syndrome
Ventricular septal defect, Micrognathia, Pectus excavatum, Meningocele, Umbilical hernia ORPHA:2789
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Increased density of long bones, Single transverse palmar crease, Wide distal fem... OMIM:269150
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Micrognathia, Pancreatic lymphangiectasis, Postaxial hand polydactyly,... ORPHA:1655
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Abnormal lung lobation, Talipes calcaneovalgus, Holopr... ORPHA:818
Myhre Syndrome
Ventricular septal defect, Overlapping toe, Pericardial effusion, Patent ductus arteriosus, Clino... OMIM:139210
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Pectus excavatum, Struc... ORPHA:464306
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Broad hallux, Ventricular septal defect, 1-2 toe syndactyly, Tapered finger, Talipes, Partial ano... OMIM:301044
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Ventricular septal defect, Single transverse palmar crease, Long palm... OMIM:244450
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion... OMIM:164745
Joubert Syndrome 23
Polydactyly OMIM:616490
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... OMIM:618775
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Coarse metaphyseal trabecularization, Brachydactyly, Ventricula... ORPHA:955
Faciocardiomelic Syndrome
Micrognathia, Slender long bone, Polydactyly, Narrow chest, Hypoplastic pelvis, Common atrium OMIM:612731
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Talipes, Abnormal heart morphology, Pleural eff... ORPHA:453499
Cranioectodermal Dysplasia 3
Sandal gap, Rhizomelia, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... OMIM:614099
Renal Agenesis
Talipes equinovarus, Ventricular septal defect, Pulmonary hypoplasia ORPHA:411709
Myopathy With Extrapyramidal Signs
Calf muscle hypertrophy, Ventricular septal defect OMIM:615673
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos... ORPHA:96147
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
Mend Syndrome
Microretrognathia, Broad hallux, Overlapping toe, Micrognathia, Long fingers, Hydrocephalus, 2-3 ... OMIM:300960
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Overlapping toe, Pectus excavatum, Patent ductus arteriosus, Hip dislo... OMIM:618268
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Coxa valga, Tapered finger, Absent frontal sinuses, Perimembranous ven... OMIM:301040
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... ORPHA:1465
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Talipes, Hydroceph... ORPHA:2162
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Short middle phalanx ... OMIM:301030
Kleefstra Syndrome
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Pulmonary art... ORPHA:261494
Noonan Syndrome 1
Pectus excavatum of inferior sternum, Ventricular septal defect, Micrognathia, Patent ductus arte... OMIM:163950
Pallister-Hall Syndrome
Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, M... ORPHA:672
Joubert Syndrome 27
Polydactyly OMIM:617120
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Monosomy 9Q22.3
Pectus excavatum, Palmar pits, Hydrocephalus, Plantar pits, Abnormal rib morphology, Cardiac fibr... ORPHA:77301
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Ventricular septal defect, Pseudoepiphyses of the metacarpals, Sh... OMIM:194190
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... OMIM:209900
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Genu valgum OMIM:617798
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Proximal placement of thumb, Micrognathia, Dilated cardiomyopathy, Hip... ORPHA:261250
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect, Supernumerary ribs, Micrognathia OMIM:613309
Mosaic Trisomy 20
Ventricular septal defect, Down-sloping shoulders, Micrognathia, Dysplastic tricuspid valve, Narr... ORPHA:1724
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Prominent fingertip pads, Pes planus, Sandal gap, Broad hallux,... OMIM:615873
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Den Hoed-De Boer-Voisin Syndrome
Sandal gap, Ventricular septal defect, Small hand, 2-3 toe syndactyly, Short foot, Recurrent lowe... OMIM:619229
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Ventricular septal defect, Pectus excavatum, 2-3 toe syndactyly, Pul... ORPHA:488632
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Hajdu-Cheney Syndrome
Ventricular septal defect, Micrognathia, Absent frontal sinuses, Patent ductus arteriosus, Hydroc... OMIM:102500
Arboleda-Tham Syndrome
Secundum atrial septal defect, Long thorax, Narrow chest, Atrial septal defect, Recurrent aspirat... OMIM:616268
Mullegama-Klein-Martinez Syndrome
Pes planus, Micrognathia, Coarctation of aorta, Polydactyly, Hypoplastic left heart, Apical muscu... OMIM:301022
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pneumonia, Pericardial effusion, Dilated cardiomyopathy, Atrial septal... ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Single transverse palmar crease, Ventricular septal hypertrophy, Small... OMIM:614947
Legius Syndrome
Non-small cell lung carcinoma, Mitral valve prolapse, Diaphyseal dysplasia, Abnormal sternum morp... ORPHA:137605
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb p... ORPHA:59315
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Micrognathia, Short thumb, Patent ductus arteriosu... OMIM:164280
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... ORPHA:2879
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage ORPHA:369929
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Tapered finger, Increased femoral anteversion, Small hand, Clinodactyl... OMIM:609460
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon... ORPHA:209905
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... OMIM:149730
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Abnormal lun... OMIM:270400
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Talipes, Micrognathia, Spina bifida, Preaxial hand po... ORPHA:261318
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Hypoplastic aortic arch, C... OMIM:617506
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Patent foramen ovale, Syndactyly, Broa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Patent foramen ovale, Syndactyly, Broa... ORPHA:353277
Phelan-Mcdermid Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, 2-3 toe syndactyly, Large hand... OMIM:606232
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Camptod... ORPHA:373
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Ventricular septal defect, Broad ischia, Diaphyseal dysplasia, Short palm,... OMIM:619727
Thauvin-Robinet-Faivre Syndrome
Pes planus, Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral valve prolapse, Va... OMIM:617107
Esophageal Atresia
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Coarctation of aorta, Pu... ORPHA:1199
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, 2-3 toe cutaneous syndactyly, ... OMIM:618454
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Foot joint contracture, Single transverse palmar crease, Tapered finge... ORPHA:444072
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Abnormal lung morphology, Patent ductus ar... ORPHA:141127
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... OMIM:216340
Orofaciodigital Syndrome Iii
Pectus excavatum, Postaxial hand polydactyly, Short sternum, Postaxial foot polydactyly OMIM:258850
Maternal Uniparental Disomy Of Chromosome 2
Pes planus, Preaxial hand polydactyly, Respiratory infections in early life, Pulmonary hypoplasia... ORPHA:96179
Tibial Hemimelia
Absent tibia OMIM:275220
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Overlapping toe, Single transverse palmar crease, Micrognathia, Hip di... OMIM:613884
Mosaic Variegated Aneuploidy Syndrome 1
Micrognathia, Hydrocephalus, Short sternum, Pulmonic stenosis, Atrial septal defect OMIM:257300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Ankle flexion contracture, Tapered finger, Pectus excavatum, Patent du... ORPHA:464311
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Abnormal lung lobation, Clinodactyly of the 5th finger, Atrial septal defe... OMIM:607872
Zellweger Syndrome
Epiphyseal stippling, Ventricular septal defect, Micrognathia ORPHA:912
Phace Syndrome
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... ORPHA:42775
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe, Postaxi... ORPHA:2750
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Micrognathi... ORPHA:3047
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, ... ORPHA:363958
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Micrognathia, Dermatoglyphic ridges abnormal, Enlarged thorax, Atrial sept... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Micrognathia, Dermatoglyphic ridges abnormal, Enlarged thorax, Atrial sept... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Micrognathia, Dermatoglyphic ridges abnormal, Enlarged thorax, Atrial sept... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Micrognathia, Dermatoglyphic ridges abnormal, Enlarged thorax, Atrial sept... ORPHA:881
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Absent thumb, Micrognathia, Short thumb, Partia... ORPHA:124
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Abnormal rib morphology, Coarctation of aorta,... OMIM:118450
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal defe... OMIM:157800
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Prominent fingertip pads, Ventricular septal defect, Sandal gap... OMIM:135900
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Lateral ... ORPHA:3144
Senior-Loken Syndrome 8
Polydactyly, Vascular dilatation OMIM:616307
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Mesomelia, Patent foramen oval... OMIM:613457
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Khan-Khan-Katsanis Syndrome
Patent ductus arteriosus after premature birth, Postaxial polydactyly, Micrognathia, Bilateral su... OMIM:618460
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Polydactyly ORPHA:769
Costello Syndrome
Barrel-shaped chest, Hyperextensibility of the finger joints, Ventricular septal defect, Limited ... OMIM:218040
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Pes cavus, Ventricular septal defect, Micrognathia, Pectus excavatum, Abnormal tibia morphology, ... ORPHA:363700
Opitz Gbbb Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Abnormal heart morphology, Per... ORPHA:2745
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Micrognathia, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta OMIM:614921
7Q11.23 Microduplication Syndrome
Pes planus, Ventricular septal defect, Single transverse palmar crease, Micrognathia, Pectus exca... ORPHA:96121
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Aplasia/Hypopla... ORPHA:306542
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morphology, Tapered finger, Ab... ORPHA:268261
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Finger syndactyly, Camptodactyly of finger, Micromelia, Microgn... ORPHA:2753
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... OMIM:300855
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tapered fi... ORPHA:261337
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Complete duplication of thum... OMIM:227645
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Congenital pulmonary airway malforma... OMIM:243150
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wrist ... OMIM:268300
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Degcags Syndrome
Syndactyly, Toe syndactyly, Ventricular septal defect, Pneumonia, Micrognathia, Short thumb, Pate... OMIM:619488
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hydrocephalus, Atri... OMIM:309801
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:84064
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Small hand, Fibular hypoplasia... ORPHA:444077
Cutis Laxa, Autosomal Dominant 1
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Abnormal thorax morphology, Epiphyseal stippling, Abnormal pel... OMIM:302960
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Br... ORPHA:353281
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas... ORPHA:233
Microphthalmia, Syndromic 3
Ventricular septal defect, Missing ribs, Patent ductus arteriosus, Rib fusion, Supernumerary ribs... OMIM:206900
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Micrognathia, Aplasia of the distal phalanx of the 5th toe, Ventricula... OMIM:608670
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Pes planus, Recurrent respiratory infections, Ventricular septal defect, Hydrocephalus, Periphera... OMIM:619575
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Pes planus, Ventricular septal defect, Left ventricular noncompaction cardiomyopat... OMIM:300967
Kinsship Syndrome
Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocation, Fibular h... OMIM:619297
Genitopatellar Syndrome
Hip contracture, Congenital hip dislocation, Ventricular septal defect, Micrognathia, Patellar ap... OMIM:606170
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Pes planus, Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly, Abnormal hea... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Pes planus, Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly, Abnormal hea... ORPHA:352665
Trichohepatoenteric Syndrome 1
Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Large placenta, P... OMIM:222470
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Microretrognathia, Toe syndactyly, Ventricular septal defect, Single transverse palmar crease, Ta... ORPHA:459070
Zttk Syndrome
Unilateral lung agenesis, Ventricular septal defect, Patent ductus arteriosus, Rib fusion, Small ... OMIM:617140
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Pneumothorax, Abnormal ri... ORPHA:3404
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Abnormal sternum morphology, Deep palmar crease, Pulmonic stenosis, At... OMIM:607721
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Pectus excavatum, Lipomyelomeningocele, Deep ... OMIM:616580
Trichothiodystrophy
Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Recurrent bronchopulmonary... ORPHA:33364
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Single transverse palmar crease, Micrognathia, Metatarsus adductus, Ep... OMIM:614866
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Finger syndactyly, Ventricular septal defect, Micrognathia, Palmoplantar keratoderma, Clinodactyl... ORPHA:1071
Eisenmenger Syndrome
Ventricular septal defect, Patent ductus arteriosus, Clubbing, Pedal edema, Aortopulmonary window... ORPHA:97214
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Ventricular septal defect, Deviation of the hallux, Patent ductu... ORPHA:434179
Joubert Syndrome 37
Postaxial polydactyly OMIM:619185
Okamoto Syndrome
Ventricular septal defect, Talipes, Abnormal left ventricle morphology, Primum atrial septal defe... ORPHA:2729
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hypoplastic aortic arch, Hi... ORPHA:457284
Adnp Syndrome
Broad hallux, Sandal gap, Single transverse palmar crease, Abnormal toe morphology, Recurrent upp... ORPHA:404448
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Pers... OMIM:619268
Peters-Plus Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Limited elbow movemen... OMIM:261540
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Pes planus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Ta... ORPHA:480880
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Pes planus, Overlapping toe, Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteri... OMIM:616682
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hand clenching, Ventricular septal defect, Talipes equinovarus OMIM:614653
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Pes planus, Ventricular septal defect, Patent ductus arteriosus, Abnormal left ven... ORPHA:466791
Momo Syndrome
Femoral bowing, Large hands, Short sternum, Congenital pseudoarthrosis of the clavicle, Long foot ORPHA:2563
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hip dysplasia, Cli... OMIM:616975
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Micrognathia, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia ORPHA:96191
Choanal Atresia
Recurrent respiratory infections, Polydactyly ORPHA:137914
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palmar crease, Long fi... OMIM:617527
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Parti... OMIM:164210
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Stroke-like episode, Pulmonary edema ORPHA:137675
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Metaphyseal widening, Ventricular septal defect, Tibial bowing OMIM:259770
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Short finger, Broad finger, Umbilical hernia, Broad phalanx of the toes ORPHA:1934
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Atrial ... ORPHA:904
Cornelia De Lange Syndrome
Toe syndactyly, Ventricular septal defect, Abnormal morphology of ulna, Proximal placement of thu... ORPHA:199
Scarf Syndrome
Umbilical hernia, Short sternum, Pectus carinatum ORPHA:3134
Opitz Gbbb Syndrome
Umbilical hernia, Ventricular septal defect OMIM:300000
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect OMIM:619306
Momo Syndrome
Large hands, Long foot, Short sternum OMIM:157980
Kabuki Syndrome 1
Prominent fingertip pads, Congenital hip dislocation, Ventricular septal defect, Micrognathia, Hy... OMIM:147920
Congenital Disorder Of Glycosylation, Type Iiw
Pes planus, Ventricular septal defect, Micrognathia, Pectus excavatum, Pectus carinatum, Narrow c... OMIM:619525
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Micrognathia, Metatarsus adductus, Osteopathia striata, Right aortic a... ORPHA:513456
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Multiple pulmonary cysts, Ventricular septal defect OMIM:619418
Penile Agenesis
Ventricular septal defect, Bilateral lung agenesis, Bilateral talipes equinovarus, Pulmonary hypo... ORPHA:49
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Scarf Syndrome
Barrel-shaped chest, Umbilical hernia, Short sternum, Pectus carinatum OMIM:312830
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly ORPHA:1297
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Short tho... ORPHA:93271
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Ventricular septal defect, Single transverse palmar crease, Tapered finger, Short thum... OMIM:619522
Leigh Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:506
Hardikar Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, ... OMIM:301068
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Congenital pulmonary airway malformation ORPHA:436252
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Sandal gap, Long fingers, Recurrent pneumonia, Cutaneous syndactyly, T... OMIM:620330
Williams-Beuren Syndrome
Hallux valgus, Bicuspid aortic valve, Ventricular septal defect, Down-sloping shoulders, Retinal ... OMIM:194050
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Pectus excavatum, Pulmonary artery stenosis, P... OMIM:235730
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn... OMIM:601803
Cerebrooculonasal Syndrome
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial polydactyly OMIM:605627
Sotos Syndrome
Hip contracture, Pes planus, Ventricular septal defect, Ankle flexion contracture, Pectus excavat... ORPHA:821
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Calcaneovalgus deformity, Pectus carinatum, Abnormality of the pulmonary a... ORPHA:261552
Johanson-Blizzard Syndrome
Ventricular septal defect, Single transverse palmar crease, Situs inversus totalis, Dilated cardi... OMIM:243800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve, Single transverse palmar crease, Hydrocephalus,... OMIM:619475
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Micrognathia, Dilata... OMIM:619991
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Patent ductus arteriosus, Ventricular septal defect, Holoprose... ORPHA:141099
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short thumb, Preaxial... OMIM:113620
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Abnormal digit morphology, Holoprosencephaly ORPHA:95494

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 Mosmo

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 Mosmo.

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

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