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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Polydactyly, Abnormal heart morphology, Stillbirth, Abnormal thorax morphology, Syndactyly, Upper... ORPHA:294975
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... OMIM:605376
16P13.11 Microduplication Syndrome
Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Arachnodactyly, Pes planus, Tr... ORPHA:261243
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Isomerism, Proximal placement of thumb, Absent radius, Transpositi... OMIM:314390
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis, Cervical ribs, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... OMIM:217095
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Truncus arteriosus, Pulmonary hypoplasia, Talipes equinovarus, Situs... OMIM:615415
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus OMIM:614779
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Micrognathia, Truncus arteriosus, Neonatal death, Syndactyly, Mesomeli... OMIM:228940
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Myelomeningocele, Situs inversus totalis, Missing ribs, Short thorax, Rib fusion, U... OMIM:613686
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth OMIM:274210
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Hydranencephaly, Truncus arteriosus, Short distal phalanx of finger OMIM:601355
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Right aortic arch, Transp... OMIM:231060
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Dislocated radial head,... ORPHA:401935
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Pat... ORPHA:1972
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Abnormal aortic morphology, Truncus arteriosus, Micrognathia, Abnormal... ORPHA:2516
Dextrocardia
Dextrocardia, Abnormal foot morphology, Abnormal pulmonary situs morphology, Abnormal lung lobati... ORPHA:1666
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis OMIM:611884
Poland Syndrome
Dextrocardia, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Short ribs, Sprengel anomaly... OMIM:173800
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Micrognathia, Tetralogy of Fallot, Hypoplastic right heart, Split foot OMIM:601348
Primary Ciliary Dyskinesia
Pulmonary situs ambiguus, Bronchiectasis, Persistent left superior vena cava, Situs inversus tota... ORPHA:244
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent... OMIM:615482
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Micrognathia, Pectus excavatum, Talipes equinovarus, Umb... OMIM:616145
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Abnormal lung mor... ORPHA:185
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Recurrent respiratory ... OMIM:615067
Bardet-Biedl Syndrome 17
Dextrocardia, Polydactyly, Situs inversus totalis, Mesoaxial polydactyly, Postaxial foot polydact... OMIM:615994
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pectus excavatum, Short 5th metacarpal, Perimembranous ventricular septal defect, Prominent stern... OMIM:617877
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Heterotaxy, Coarcta... ORPHA:3426
Eng-Strom Syndrome
Ventricular septal defect, Pectus excavatum, Abnormal cardiac septum morphology, Camptodactyly of... ORPHA:1937
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... ORPHA:1505
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Right aortic arch, Bronchiectasis OMIM:617577
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Talipes equinovarus, Double outlet right ventricle, Short thorax, Patent d... OMIM:618845
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Long fingers, Double outlet right ventricle, Patent ductus arteriosus,... OMIM:618316
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus, Syndactyly, Foot oligodactyly, Brachydactyly OMIM:616589
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Patent ductus arteriosus, Deviation of finger, Shallow... OMIM:201000
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia, Lateral clavicle hook, Postaxial polydactyly, Sh... OMIM:615503
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Abdominal situs inversus OMIM:619607
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Mitral atresia, Double outlet ... OMIM:306955
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Meningocele, Abnormal tricuspid valve morphology, Missing ribs, Camptodactyly of fi... ORPHA:1759
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:618063
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Meacham Syndrome
Ventricular septal defect, Conotruncal defect, Aplasia/Hypoplasia of the lungs, Abnormal lung lob... ORPHA:3097
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, Transposition of the great arteries, Bilateral single tr... ORPHA:1913
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Micrognathia, Supernumerary ribs OMIM:221950
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent respiratory i... OMIM:616037
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Short toe, Umbilical h... OMIM:615297
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:614679
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Abnormal lung lobati... ORPHA:1120
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Micrognathia, Postaxial polydactyly, Patent ductus arteriosus, Preaxia... OMIM:618142
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Micrognathia, Transposition of the great a... ORPHA:1926
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Biventricula... ORPHA:860
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... ORPHA:3384
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Micrognathia, Patent ductus arteriosus, Camptodactyly of finger, Brachydactyly ORPHA:2863
Czeizel-Losonci Syndrome
Dextrocardia, Micrognathia, Radial deviation of the thumb, Myelomeningocele, Pulmonary hypoplasia... ORPHA:2437
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Broad hallux phalanx, Abnormal aortic morphology, Micrognathia, Tape... ORPHA:251071
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Supraumbilical raphe, Bifid sternum, Coarctation of aorta OMIM:140850
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... OMIM:186350
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Missing ribs, Pulmonic st... OMIM:220210
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Feingold Syndrome 2
2-3 toe syndactyly, Ventricular septal defect, 3-4 toe syndactyly, Short middle phalanx of the 5t... OMIM:614326
Acropectoral Syndrome
Pectus excavatum, Triphalangeal thumb, Pectus carinatum, Preaxial polydactyly, Partial duplicatio... OMIM:605967
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... OMIM:112910
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... OMIM:608978
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... OMIM:147750
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Brachydac... ORPHA:391646
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Patent ductus arteriosus, Fing... ORPHA:392
Bardet-Biedl Syndrome 8
Situs inversus totalis, Polydactyly OMIM:615985
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Patent ductus ... OMIM:607143
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Abdominal situs ambiguus, Asce... OMIM:270100
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... OMIM:617927
Acrocardiofacial Syndrome
Hallux valgus, Toe syndactyly, Ventricular septal defect, Truncus arteriosus, Coarctation of aort... ORPHA:2008
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... ORPHA:216694
Catel-Manzke Syndrome
Ventricular septal defect, Micrognathia, Pectus excavatum, Abnormality of epiphysis morphology, A... ORPHA:1388
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Heterotaxy, Recurrent pneumonia, Recu... OMIM:613807
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... ORPHA:1686
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Pectus excavatum, Tapered finger, Long fingers, Short toe, Proximal pl... OMIM:613458
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Micrognathia, Pectus excavatum, Double outlet right ventricle, Joint c... OMIM:179613
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Long fingers, Pectus excavatum, Abnormal cardiac septum morphology OMIM:614294
Leri-Weill Dyschondrosteosis
Abnormality of the carpal bones, Madelung deformity, Tibial bowing, Radial bowing, Abnormal metat... OMIM:127300
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Han... OMIM:249670
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... ORPHA:1461
Ellis Van Creveld Syndrome
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Capitate-hamate fusion,... ORPHA:289
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Clinodactyly, Talipes equinovarus, Patent foramen ovale OMIM:616789
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Fetal Minoxidil Syndrome
Ventricular septal defect, Clinodactyly of the 5th finger, Micrognathia, Umbilical hernia ORPHA:1918
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Pulmonary hypoplasia, Abnormal descen... ORPHA:99050
Cranioacrofacial Syndrome
Abnormal hand morphology, Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Abnormal heart morphology, Absent tibia, Polydactyly OMIM:188740
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Micrognathia, Long thorax, Horizontal ribs, Pulmonary hyp... OMIM:617925
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... OMIM:617478
Emanuel Syndrome
Ventricular septal defect, Micrognathia, Truncus arteriosus, Congenital hip dislocation, Patent d... OMIM:609029
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis OMIM:613095
Otopalatodigital Syndrome Type 2
Hydrocephalus, Camptodactyly of finger, Micrognathia, Bowing of the long bones, Narrow chest, Pul... ORPHA:90652
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Micrognathia, Single vent... OMIM:601186
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Sonoda Syndrome
Ventricular septal defect, High axial triradius OMIM:270460
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Micrognathia, Anencephaly, Talipes, Aplasia/Hypoplasia of... ORPHA:1908
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
2-3 toe syndactyly, Micrognathia, Persistent left superior vena cava, Double outlet right ventric... ORPHA:3304
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, 2-3 toe syndactyly, Ventricular septal defe... OMIM:264480
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections OMIM:253300
Thoracoabdominal Syndrome
Ectopia cordis, Anencephaly, Patent ductus arteriosus, Transposition of the great arteries, Hydro... OMIM:313850
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Proximal placement of thumb, Dextrotranspositio... OMIM:618619
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Micrognathia, Transposition of the great arte... ORPHA:1727
Stankiewicz-Isidor Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Truncus arteriosus, Micrognathia, Patent ductus ar... OMIM:617516
Carpenter Syndrome 2
Dextrocardia, Cutaneous finger syndactyly, Pectus excavatum, Talipes equinovarus, Aplasia of the ... OMIM:614976
Orofaciodigital Syndrome Viii
Syndactyly, Recurrent aspiration pneumonia, Polydactyly, Short tibia OMIM:300484
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Horizontal ribs, Pulmonary hypoplasia, Pectus carinatum, Polysyndactyl... OMIM:263520
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Congenital Total Pulmonary Venous Return Anomaly
Mitral atresia, Single ventricle, Patent ductus arteriosus, Supracardiac total anomalous pulmonar... ORPHA:99125
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Polydactyly, Brachydactyly OMIM:617405
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death, Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius,... OMIM:601376
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Pes planus, Broad hallux, Thoracic... ORPHA:508498
Primary Pulmonary Hypoplasia
Dextrocardia, Micrognathia, Pneumothorax, Recurrent respiratory infections, Patellar hypoplasia, ... ORPHA:2257
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Micrognathia, Atrioventricular canal defect,... OMIM:619123
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Postaxial polydactyly, Aplastic clavicle, Short ribs, Preaxial polydactyly, Atrial s... OMIM:616546
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, 2-3 toe syndactyly, Ventricular septal defect, Abnormal foot morphology, T... ORPHA:477817
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Micrognathia, Rocker bottom foot, Talipes equinovarus, A... ORPHA:99776
Mmep Syndrome
Ventricular septal defect, Triphalangeal thumb, Split foot ORPHA:3434
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Long thorax, Postaxial polydactyly, Atrioventricular cana... OMIM:619142
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Tetralogy of Fallot, Brachydactyly, Abnormal mitral valve morphology ORPHA:1919
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot, Brachydactyly ORPHA:3303
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Hypoplasia of the radius, Patent ductus arteriosus, Syndactyly, ... OMIM:142900
Ververi-Brady Syndrome
Transposition of the great arteries, Clinodactyly of the 5th finger, Metaphyseal irregularity OMIM:617982
Emanuel Syndrome
Ventricular septal defect, Micrognathia, Truncus arteriosus, Congenital hip dislocation, Patent d... ORPHA:96170
Craniorachischisis
Sirenomelia, Myelomeningocele, Anencephaly, Bifid sternum, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Broad hallux phalanx, Umbilical hernia, Broad thumb, 3-4 finger syndactyly, A... OMIM:175700
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:300991
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Absence Of The Pulmonary Artery
Truncus arteriosus, Bronchiectasis, Abnormal heart morphology, Abnormal coronary artery morpholog... ORPHA:980
Renpenning Syndrome
Pectus excavatum, Heterotaxy, Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morpholog... ORPHA:3242
Femoral-Facial Syndrome
Truncus arteriosus, Talipes equinovarus, Hypoplastic acetabulae, Short humerus, Short fourth meta... OMIM:134780
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Truncus arteriosus, Ulnar deviation of finger, Branchi... ORPHA:261330
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Aplasia/Hy... ORPHA:2911
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Ventricular septal defect, Sandal gap ORPHA:2515
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Slc35A2-Cdg
Metatarsus adductus, Talipes equinovarus, Abnormal heart morphology, Aplasia/hypoplasia involving... ORPHA:356961
Neu-Laxova Syndrome 1
Joint contracture of the hand, Patent ductus arteriosus, Finger syndactyly, Small placenta, Campt... OMIM:256520
Timothy Syndrome
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Syndactyly, Tetralo... OMIM:601005
Ciliary Dyskinesia, Primary, 40
Abnormal heart morphology, Situs inversus totalis OMIM:618300
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis, Broad ... OMIM:217085
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Ventricular septal defect, Horizontal ribs, Lateral clavicle hook, Postaxial... OMIM:617895
Nevus Comedonicus Syndrome
Toe syndactyly, Abnormal foot morphology, Preaxial polydactyly, Finger syndactyly, Spina bifida, ... ORPHA:64754
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Aplasia/Hypoplasia of the radius, Spina bifida, Hypoplast... ORPHA:2476
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Epiphyseal stippling OMIM:614876
Microgastria-Limb Reduction Defect Syndrome
Amelia, Arrhinencephaly, Truncus arteriosus, Phocomelia, Abnormal lung lobation, Aplastic clavicl... ORPHA:2538
Desbuquois Syndrome
Ventricular septal defect, Abnormal femoral neck/head morphology, Small hand, Abnormality of the ... ORPHA:1425
Floating-Harbor Syndrome
Short clavicles, Shield chest, Humeral pseudarthrosis, Persistent left superior vena cava, Avascu... ORPHA:2044
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, 2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Ve... OMIM:617063
Marden-Walker Syndrome
Dextrocardia, Micrognathia, Talipes equinovarus, Abnormal sternum morphology, Arachnodactyly, Joi... OMIM:248700
Distal Trisomy 5Q
Dextrocardia, Ventricular septal defect, Micrognathia, Hypoplasia of the radius, Absent thumb, Hy... ORPHA:96097
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Ventricular septal defect, Triphalangeal thumb, Pectoralis hypoplasi... OMIM:607323
Omodysplasia 1
Limited elbow flexion, Ventricular septal defect, Micrognathia, Rhizomelia, Limited knee flexion/... OMIM:258315
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:608644
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Hypoplasi... OMIM:612447
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology, Postaxial hand poly... ORPHA:83473
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta, Mesocardia, Atrial septal defect, Clino... OMIM:136140
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ventricular septal defect, Peripheral pulmonary artery stenosis, Large hands, Long foot, Joint co... OMIM:280000
Aphalangy With Hemivertebrae
Ventricular septal defect, Aphalangy of hands and feet, Pulmonary hypoplasia, Aplasia of the phal... OMIM:207620
1Q21.1 Microduplication Syndrome
Talipes equinovarus, Hip dislocation, Hip dysplasia, Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Osteolysis involving bon... ORPHA:371428
Microgastria-Limb Reduction Defects Association
Arrhinencephaly, Hand oligodactyly, Phocomelia, Abnormal lung lobation, Hypoplasia of the radius,... OMIM:156810
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Toe clinodactyly ORPHA:261120
Cleft Palate, Cardiac Defects, And Mental Retardation
2-3 toe syndactyly, Ventricular septal defect, Coarctation of aorta, Short 5th finger, Sandal gap... OMIM:600987
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Hydrolethalus Syndrome 2
Micrognathia, Anencephaly, Postaxial polydactyly, Preaxial polydactyly, Hydrocephalus OMIM:614120
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Abnormal heart morphology, Micrognathia, Premature sternal synostosis OMIM:184800
Joubert Syndrome 18
Ventricular septal defect, Polydactyly, Camptodactyly OMIM:614815
Marfanoid Habitus With Situs Inversus
Mitral valve prolapse, Pectus carinatum, Persistent left superior vena cava, Situs inversus total... OMIM:609008
Grange Syndrome
Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Arterial stenosis, Short palm ORPHA:79094
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Hypoplastic tricuspid val... OMIM:600001
Brachydactyly, Type B1
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Joint con... OMIM:113000
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Abnormal thorax morphology, Hi... OMIM:605274
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Micrognathia, Abnormality of epiphysis morphology, Bowing of the long ... ORPHA:93267
Coffin-Siris Syndrome 10
Ventricular septal defect, Clinodactyly OMIM:618506
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... ORPHA:2299
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Camptodactyly, Overlapping toe OMIM:614262
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, P... OMIM:613091
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Triphalangeal thumb, Hypoplastic aortic arch, My... ORPHA:2876
Marden-Walker Syndrome
Dextrocardia, Metatarsus adductus, Ventricular septal defect, Micrognathia, Pectus excavatum, Pec... ORPHA:2461
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Cardiac-Urogenital Syndrome
Dextrocardia, Patent urachus, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... OMIM:618280
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thoracic hypoplasia, 2-3 toe syndactyly, Radial bowing, Micrognathia, Postaxial polydactyly, Ulna... OMIM:617866
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Ventricular septal defect, Abnormality of epiphy... ORPHA:3474
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, Abnormal heart morphology, Bifid distal phalanx of the t... ORPHA:2209
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Absent radius, Short tibia, Narrow chest, Forearm undergrowth,... OMIM:251230
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Micrognathia, Pectus excavatum, Positional foot deformity, Long fingers, Abnormal h... ORPHA:96092
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Micrognathia, Abnormal aortic valve morphology, Abnormal heart morphology, Atrial s... ORPHA:261197
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Stillbirth, Duplication of phalanx of hallux, Syndactyly, Atrial septa... OMIM:263630
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Micrognathia, Abnormality of the pulmonary... ORPHA:1166
Noonan Syndrome 12
Ventricular septal defect, Pectus excavatum, Proximal placement of thumb, 11 pairs of ribs, Tetra... OMIM:618624
Endove Syndrome, Limb-Only Type
Triangular tibia, Umbilical hernia, Absent proximal finger flexion creases, 3-4 finger syndactyly... OMIM:619217
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Clinodactyly of the 5th finger, Complete duplication of the 1st metatarsal, Micrognathia, Preaxia... OMIM:129540
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... OMIM:614980
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Pectus excavatum, Postaxial polydactyly, Short finger, Foot polydac... OMIM:258860
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Microphthalmia With Limb Anomalies
Arrhinencephaly, Talipes equinovarus, Finger syndactyly, Hydrocephalus, Short long bone, Short ti... ORPHA:1106
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Pectus excavatum, Posterior rib fusion, Patent ductus arteriosus, Atri... OMIM:608406
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Recurrent sinusitis OMIM:615451
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Atrial septal defect, Postaxial oligoda... OMIM:608571
Thakker-Donnai Syndrome
Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot, Communicatin... ORPHA:1780
Orofaciodigital Syndrome Xvii
Polydactyly, Tetralogy of Fallot, Partial duplication of thumb phalanx, Central Y-shaped metacarp... OMIM:617926
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Ventricular septal defect, Lateral clavicle hook, Short ribs, Genu valgum, H... OMIM:615630
Pentalogy Of Cantrell
Ventricular septal defect, Anencephaly, Pulmonary hypoplasia, Talipes, Abnormal sternum morpholog... ORPHA:1335
Vater/Vacterl Association
Patent urachus, Ventricular septal defect, Triphalangeal thumb, Abnormal sternum morphology, Hypo... OMIM:192350
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Absent middle phalanx of 2nd finger, Absent middle phalanx of 5th f... OMIM:218530
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Micrognathia, Pulmonary hypoplasia OMIM:615524
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Rocker bottom foot, Talipes equinovarus, Double outlet right ventricle... OMIM:301056
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Recurrent sinusitis, Pneumonia, Bronchiectasis OMIM:612444
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Pectus excavatum, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping ... OMIM:618167
Filippi Syndrome
Ventricular septal defect, 2-4 toe syndactyly, Finger clinodactyly, Cutaneous syndactyly, Single ... OMIM:272440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Holoprosencephaly, Pulmonic stenosis, Transposition of the great arteries... OMIM:253800
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Micrognathia, Adducted thumb, Talipes equinovarus, Cardiomegaly, Overl... OMIM:617022
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Syndactyly, Hydrocephalus, Polydactyly OMIM:602501
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Endocrine-Cerebroosteodysplasia
Micrognathia, Shield chest, Polydactyly, Ulnar deviation of the hand, Ulnar deviation of the hand... OMIM:612651
Joubert Syndrome With Ocular Defect
Foot polydactyly, Hydrocephalus, Dextrocardia, Hand polydactyly ORPHA:220493
Rhizomelic Syndrome, Urbach Type
Micrognathia, Triphalangeal thumb, Abnormality of the knee, Abnormality of the elbow, Abnormality... ORPHA:3098
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis,... OMIM:615382
Diets-Jongmans Syndrome
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Heterotaxy, ... OMIM:618846
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Upper limb undergrowth, Ventricular septal defect, Arrhin... OMIM:236680
Lambotte Syndrome
Ventricular septal defect, Semilobar holoprosencephaly, Preaxial foot polydactyly OMIM:245552
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Atrial septal defect, Short dist... OMIM:300963
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Broad thumb, Finger syndactyly, Hydrocephalus, Postaxial fo... ORPHA:380
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Ciliary Dyskinesia, Primary, 28
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Rec... OMIM:615505
Mend Syndrome
2-3 toe syndactyly, Microretrognathia, Polydactyly, Long fingers, Overlapping fingers, Hydrocepha... OMIM:300960
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Hypoplasia of right ventricle, Hypoplastic tr... ORPHA:2255
Mcdonough Syndrome
Ventricular septal defect, Micrognathia, Pectus excavatum, Pectus carinatum, Pulmonic stenosis, R... OMIM:248950
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy OMIM:249270
Diamond-Blackfan Anemia 6
Ventricular septal defect, Micrognathia, Triphalangeal thumb, Mitral valve prolapse, Ventricular ... OMIM:612561
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect, Micrognathia OMIM:608227
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Micrognathia, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Apl... ORPHA:2256
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patellar hypoplasia, P... OMIM:619189
Xk Aprosencephaly Syndrome
Ventricular septal defect, Abnormal morphology of the radius, Atrial septal defect ORPHA:3469
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Sprengel anomaly, Coarctation of aorta, Atrioventricular canal defect OMIM:618929
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Pectus excavatum, Abnormal heart morphology, Pulmonary sequestration, Abno... ORPHA:2847
Restrictive Dermopathy
Dextrocardia, Short umbilical cord, Ascending tubular aorta aneurysm, Micrognathia, Structural fo... ORPHA:1662
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Sandal gap OMIM:300887
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Pulmonary hypoplasia, Postaxial polydactyly, Rhizomelia, Short ribs, Patent duct... OMIM:616300
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Hydrocephalus, Patent ductus arteriosus OMIM:614886
Frank-Ter Haar Syndrome
Bilateral talipes equinovarus, Metatarsus adductus, Ventricular septal defect, Mitral valve prola... OMIM:249420
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Monkey wrench femoral neck, 2-3 toe syndactyly, Single transverse palmar crease, Ventricular sept... OMIM:618870
Hypertelorism And Tetralogy Of Fallot
Talipes equinovarus, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with abse... OMIM:239711
Simpson-Golabi-Behmel Syndrome, Type 1
Short greater sciatic notch, Talipes equinovarus, Broad toe, Short ribs, Patent ductus arteriosus... OMIM:312870
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Clinodactyly of the 5t... OMIM:618974
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the hand, Ventricular septal defect, Aplasia/Hypopl... ORPHA:94066
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis OMIM:613193
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
2-3 toe syndactyly, Ventricular septal defect, Micrognathia, Metaphyseal widening, Rhizomelia, Co... OMIM:617164
Orofaciodigital Syndrome Type 6
Micrognathia, Abnormal heart morphology, Mesoaxial polydactyly, Foot polydactyly, Preaxial polyda... ORPHA:2754
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Ventricular septal defect, Foot oligodactyly, Holoprosencephaly, Short femur OMIM:601357
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Patent ductus arteriosus, Finger syndactyly, Ge... ORPHA:65759
Hadziselimovic Syndrome
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Fibrochondrogenesis 1
Broad ischia, Joint contracture of the hand, Short ribs, Camptodactyly, Short long bone, Anterior... OMIM:228520
Renal Tubular Dysgenesis
Bilateral single transverse palmar creases, Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Roifman Syndrome
Ventricular septal defect, Single transverse palmar crease, Noncompaction cardiomyopathy, Short m... OMIM:616651
22Q11.2 Deletion Syndrome
Arrhinencephaly, Truncus arteriosus, Talipes equinovarus, Patent ductus arteriosus, Foot polydact... ORPHA:567
Coffin-Lowry Syndrome
Broad palm, Pectus excavatum, Pectus carinatum, Tapered finger, Bifid sternum, Pes planus, Narrow... OMIM:303600
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... ORPHA:2751
Orofaciodigital Syndrome Ix
Toe syndactyly, Recurrent aspiration pneumonia, Hand polydactyly, Camptodactyly, Short tibia OMIM:258865
Progeroid Facial Appearance With Hand Anomalies
Cutaneous finger syndactyly, Long fingers, Arachnodactyly, Tetralogy of Fallot, Prominent superfi... OMIM:602249
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Microretrognathia, Tetralogy of Fallot, Abnormal rib morphology ORPHA:276422
8Q24.3 Microdeletion Syndrome
Branchial cyst, Truncus arteriosus, Pes valgus, Pes planus, Patent ductus arteriosus, Finger clin... ORPHA:508488
Prune Belly Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Pectus excavatum, Talipes equinovarus... ORPHA:2970
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:617092
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Talipes equinovarus, Aortic root aneurysm, Calf muscle hypoplasia, Patent ... OMIM:121050
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Sprengel anomaly, Spina bifida, Abnormal rib morphology, Abnormal shou... ORPHA:2345
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... OMIM:604169
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... OMIM:274000
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart, Micromelia, Abnormal rib morphology ORPHA:2772
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Postaxial polydactyly, Knee flexion contracture, Atrial... OMIM:603387
Woods Syndrome
Ventricular septal defect, 3-4 finger cutaneous syndactyly, Limited elbow extension, Single trans... OMIM:615236
Acromelic Frontonasal Dysostosis
Syndactyly, Polydactyly, Talipes equinovarus, Preaxial polydactyly OMIM:603671
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Thoracic hypoplasia, Ventricular septal defect, Micrognathia, Adduct... OMIM:616897
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Peripheral pulmonary artery stenosis, Double outlet right ventricle, M... ORPHA:163956
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect, Micrognathia OMIM:616901
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis OMIM:614017
Limb Body Wall Complex
Cutaneous finger syndactyly, Ectopia cordis, Hydrocephalus, Broad hallux, Aplasia/hypoplasia invo... ORPHA:2369
8Q12 Microduplication Syndrome
Ventricular septal defect, Short foot, Atrial septal defect ORPHA:228399
Char Syndrome
Toe syndactyly, Symphalangism of the 5th finger, Ventricular septal defect, Patent ductus arterio... ORPHA:46627
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Narrow chest, Bell-shaped thorax, ... OMIM:615633
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Ventricular septal defect, Micrognathia, Atrioventricular canal defect, Absent radius, Atrial sep... OMIM:600123
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Ventricular sept... OMIM:169400
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Madelung deformity, Short tibia OMIM:127350
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Constricting Bands, Congenital
Ectopia cordis, Talipes equinovarus, Abnormal lung lobation, Syndactyly, Hand polydactyly, Abnorm... OMIM:217100
3C Syndrome
Ventricular septal defect, Micrognathia, Abnormal mitral valve morphology, Atrioventricular canal... ORPHA:7
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Abnormal heart morphology, Atrial septal defect, Tetralogy of... OMIM:614954
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Abnormal thorax morphology, Patent ductus arteriosus, Tetralogy of F... ORPHA:2184
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Eiken Syndrome
Limited elbow flexion, Broad palm, Abnormal acetabulum morphology, Narrow pelvis bone, Cubitus va... ORPHA:79106
Ciliary Dyskinesia, Primary, 26
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Rec... OMIM:615500
Distal Monosomy 15Q
Bicuspid aortic valve, Abnormal aortic arch morphology, Micrognathia, Talipes equinovarus, Short ... ORPHA:1596
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Bicuspid aortic valve, Abnormal foot morphology, Micrognathia, Knee dislocation, Pe... ORPHA:536545
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Micrognathia, Flat capital femoral epiphysis, Pectus ex... OMIM:601560
Mullegama-Klein-Martinez Syndrome
Micrognathia, Polydactyly, Coarctation of aorta, Pes planus, Hypoplastic left heart, Abnormal car... OMIM:301022
Kagami-Ogata Syndrome
Long clavicles, Ventricular septal defect, Micrognathia, Thin ribs, Long fingers, Limb undergrowt... OMIM:608149
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Sprengel anomaly, Hip dysplasia, Abnormality of fib... ORPHA:1988
Agnathia-Otocephaly Complex
Holoprosencephaly, Situs inversus totalis, Micrognathia, Mandibular aplasia OMIM:202650
Hypoglossia With Situs Inversus
Situs inversus totalis, Micrognathia OMIM:612776
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Preaxial hand polydactyly, Interphalangeal joint contracture of finger, Knee flexion contracture OMIM:606242
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Aase-Smith Syndrome I
Ventricular septal defect, Hydrocephalus, Talipes equinovarus, Slender finger OMIM:147800
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis OMIM:614874
Weill-Marchesani Syndrome
Ventricular septal defect, Pulmonic stenosis, Short thumb, Aortic valve stenosis, Brachydactyly ORPHA:3449
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Abnormal sternum... OMIM:615355
Mosaic Trisomy 16
Ventricular septal defect, Pulmonary hypoplasia, Abnormal heart morphology, Coarctation of aorta,... ORPHA:1708
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Atrial septal defect, Contra... OMIM:613870
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Clinodactyly of the 5th finger OMIM:314320
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Atrioventr... ORPHA:2549
Congenital Rubella Syndrome
Ventricular septal defect, Abnormality of the metaphysis, Patent ductus arteriosus, Atrial septal... ORPHA:290
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Joint contracture of the hand, Radial deviation of finger, Tetralogy... OMIM:136760
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Genu valgum ORPHA:1381
Facial Dysmorphism With Multiple Malformations
Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot, Hydrocephalus OMIM:227255
Short-Rib Thoracic Dysplasia 12
Neonatal death, Short thorax, Short ribs, Patent ductus arteriosus, Hydrocephalus, Short toe, Sho... OMIM:269860
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Abnormal sternum morphology, Short ribs, Patent ductus arteriosus, Atr... ORPHA:2519
Meckel Syndrome, Type 4
Meningocele, Ventricular septal defect, Anencephaly, Bowing of the long bones, Atrial septal defe... OMIM:611134
Mosaic Trisomy 1
Deviation of the 5th toe, Broad toe, Complete duplication of thumb phalanx, Camptodactyly of fing... ORPHA:1692
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Micrognathia, Postaxial polydactyly, Tapered finger, Congenital pseudo... ORPHA:435638
Microphthalmia, Syndromic 2
Dextrocardia, 2-3 toe syndactyly, Ventricular septal defect, Mitral valve prolapse, Hypoplastic a... OMIM:300166
Hand-Foot-Genital Syndrome
Ventricular septal defect, Proximal placement of thumb, Synostosis of carpal bones, Short 1st met... ORPHA:2438
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... ORPHA:261183
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Bronchiectasis, Noncommunicating hydrocephalus, Recurrent lower respira... OMIM:618699
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Tetralogy of Fallot, Clinodac... ORPHA:3306
Delpire-Mcneill Syndrome
Hip dislocation, Ventricular septal defect OMIM:619083
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Brachydactyly-Preaxial Hallux Varus Syndrome
Micrognathia, Radial club hand, Broad thumb, Short metatarsal, Short metacarpal, Preaxial hand po... ORPHA:1278
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Fifth finger distal phalanx clinodactyly ORPHA:3369
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Micrognathia, Fragmented epiphyses, Abnormal sternum morphology, Rhizomelia, Epi... ORPHA:166016
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Pectus excavatum, Talipes equinovarus, Pectus carinatum, Aortic root a... OMIM:301039
Cooper-Jabs Syndrome
Ventricular septal defect, Missing ribs, Proximal placement of thumb, Abnormal rib morphology, Ca... ORPHA:1488
C Syndrome
Toe syndactyly, Ventricular septal defect, Micrognathia, Ulnar deviation of finger, Limb undergro... OMIM:211750
Campomelic Dysplasia
Thoracic hypoplasia, Shortening of all phalanges of the toes, Shortening of all phalanges of fing... OMIM:114290
Warsaw Breakage Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Tetralogy of Fallot, Clinodactyly, Single transver... OMIM:613398
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Right ventricular hypertrophy, Atrial septal defect, Short distal phal... OMIM:614261
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Short 5th finger, Ac... ORPHA:500159
Wolf-Hirschhorn Syndrome
Abnormal foot morphology, Micrognathia, Abdominal situs inversus, Aplasia/Hypoplasia of the lungs... ORPHA:280
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Triphalangeal thumb, Talipes equinovarus, Hypoplasia of first ribs, Aplasia/Hypopl... OMIM:154400
Atelosteogenesis Type Iii
Fibular aplasia, Thoracic hypoplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, D... ORPHA:56305
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, 2-3 toe syndactyly, Micrognathia, Pectus excavatum, Taper... ORPHA:476126
Tarp Syndrome
Micrognathia, Pectus excavatum, Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Polydactyly, Atrial septal defect, Patent foramen ovale, Recurrent res... OMIM:618950
Jackson-Weiss Syndrome
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Short metatarsal, Sym... ORPHA:1540
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Bilateral triphalangeal thumbs, Preaxial foot polydactyly, Postaxial hand polydactyly OMIM:138790
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation, Hydrocephalus, Postaxial polydactyly OMIM:219730
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Cervical ribs, Pectus excavatum, Pectus carinatum OMIM:609654
Keutel Syndrome
Ventricular septal defect, Short distal phalanx of finger, Pulmonary artery stenosis, Recurrent r... ORPHA:85202
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Ciliary Dyskinesia, Primary, 19
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Rec... OMIM:614935
Orofaciodigital Syndrome Vi
Toe syndactyly, Micrognathia, Postaxial polydactyly, Radial deviation of finger, Brachydactyly, C... OMIM:277170
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hallux valgus, Ventricular septal defect, Micrognathia, Pectus excavatum,... OMIM:618348
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Double outlet right ventricle, Pulmonary artery hypoplasia, Right aortic ... ORPHA:2326
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Recurrent respir... OMIM:613808
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Meckel Syndrome, Type 7
Right ventricular hypertrophy, Situs inversus totalis, Patent ductus arteriosus, Atrial septal de... OMIM:267010
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Short thorax, Sandal gap, Short metaca... OMIM:617102
Trisomy 13
Ventricular septal defect, Abnormal lung lobation, Patent ductus arteriosus, Bilateral single tra... ORPHA:3378
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Rec... OMIM:615444
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Pes planus, Patent ductus art... ORPHA:329224
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus,... OMIM:223800
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Micrognathia, Pectus excavatum, Small hand, Sandal gap, Radial deviati... OMIM:270450
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Large hands ORPHA:85287
Wolcott-Rallison Syndrome
Double outlet right ventricle, Metaphyseal dysplasia, Atrial septal defect ORPHA:1667
Biliary, Renal, Neurologic, And Skeletal Syndrome
Neonatal death, Patent ductus arteriosus, Syndactyly, Hydrocephalus, Common atrium, Recurrent res... OMIM:619534
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Patent ductus arteriosus,... OMIM:301043
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Recombinant 8 Syndrome
Ventricular septal defect, Micrognathia, Patellar aplasia, Pectus excavatum, Abnormal sternum mor... ORPHA:96167
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Johanson-Blizzard Syndrome
Dextrocardia, Abnormal cardiac septum morphology ORPHA:2315
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Ventricular septal defect, Abnormal heart morphology, Coat hanger sign of ri... ORPHA:254534
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis, Sprengel anomaly, Atr... OMIM:618223
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Talipes equinovarus, Aortic root aneur... OMIM:610168
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Short clavicles, Tapered finger, Coarctation of aorta, Atrial septal d... OMIM:617159
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Stillbirth, Patellar hypoplasia... OMIM:119800
Down Syndrome
Broad palm, Complete atrioventricular canal defect, Hypoplastic iliac wing, Short middle phalanx ... OMIM:190685
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Hydrocephalus With Associated Malformations
Short lower limbs, Micrognathia, Tibial bowing, Abnormal foot morphology, Lower limb undergrowth,... OMIM:236640
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Pulmonic stenosis, Atri... OMIM:615279
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Micrognathia, Triphalangeal thumb, Rocker bottom foot, Equinovarus def... ORPHA:3078
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Pectus excavatum, Pneumothorax, Coarctation of aorta, Arachnodactyly, ... OMIM:617602
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Tetrasomy 9P
Dextrocardia, Micrognathia, Pericarditis, Hypoplastic scapulae, Talipes equinovarus, Abnormal mit... ORPHA:3310
Adams-Oliver Syndrome
Pulmonary artery atresia, Talipes, Abnormality of the upper limb, Abnormality of the lower limb, ... ORPHA:974
Trisomy 1Q
Toe syndactyly, Ventricular septal defect, Long foot, Short thorax, Arachnodactyly, Patent ductus... ORPHA:261344
Ulnar-Mammary Syndrome
Ventricular septal defect, Pectus carinatum, Aplasia/Hypoplasia of the ulna, Abnormal clavicle mo... ORPHA:3138
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Tetraamelia Syndrome 2
Ventricular septal defect, Microretrognathia, Hypoplastic pulmonary veins, Micrognathia OMIM:618021
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly OMIM:601420
Acro-Renal-Mandibular Syndrome
Micrognathia, Thin ribs, Hypoplastic scapulae, Abnormal lung lobation, Pectus carinatum, Abnormal... ORPHA:958
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Postaxial hand polyda... ORPHA:75389
Acitretin/Etretinate Embryopathy
Conotruncal defect, Micrognathia, Abnormality of the calcaneus, Aplasia/Hypoplasia of the maxilla... ORPHA:40366
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Atrial septal defect, Clinodactyly, Camptodactyly OMIM:617360
Familial Visceral Myopathy
Micrognathia, Abdominal situs inversus, Arachnodactyly, Narrow chest, Camptodactyly of finger, Um... ORPHA:2604
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia, Arachnodactyly, Partial duplicat... OMIM:616730
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Pectus excavatum, Short 2nd toe, Rocker bottom foot, Broad toe, Patent... OMIM:612582
Mckusick-Kaufman Syndrome
Tarsal synostosis, Ventricular septal defect, Patent ductus arteriosus, Finger syndactyly, Brachy... ORPHA:2473
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Postaxial polydactyly OMIM:617757
Diamond-Blackfan Anemia 12
Ventricular septal defect, Triphalangeal thumb OMIM:615550
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Pulmonary hypoplasia, Bowing of the lon... OMIM:614091
Klippel-Feil Syndrome 2, Autosomal Recessive
Sprengel anomaly, Ventricular septal defect OMIM:214300
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Microretrognathia, Talipes equinovarus, Fibular hypoplasia, Proximal pl... OMIM:268305
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Abnormal lung lobation, Bilateral radial aplasia, Coarctation of aorta... OMIM:300514
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Pedal edema, Peripheral arte... OMIM:126320
Knobloch Syndrome
Dextrocardia, Hydrocephalus, Patent ductus arteriosus ORPHA:1571
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Teebi Hypertelorism Syndrome 1
Broad palm, Ventricular septal defect, Atrial septal defect, Small hand OMIM:145420
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Situs inversus totalis, Mandibular aplasia ORPHA:990
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cutaneous finger syndactyly, Ventricular septal defect, Pectus excavatum, Pericardial effusion, T... OMIM:235510
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Noonan Syndrome 2
Hypertrophic cardiomyopathy, Ventricular septal defect, Micrognathia, Shield chest, Palmoplantar ... OMIM:605275
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Diamond-Blackfan Anemia 7
Ventricular septal defect, Triphalangeal thumb, Patent ductus arteriosus, Sprengel anomaly, Short... OMIM:612562
Johnson Neuroectodermal Syndrome
Preaxial hand polydactyly, Tetralogy of Fallot, Hand polydactyly ORPHA:2316
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
9Q21.13 Microdeletion Syndrome
Abnormal heart morphology, Hip dysplasia, Polydactyly, Talipes ORPHA:531151
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Micrognathia, Postaxial polydactyly, Holoprosencephaly, Short ribs, Pa... OMIM:615948
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Talipe... ORPHA:959
Joubert Syndrome
Foot polydactyly, Situs inversus totalis, Hydrocephalus, Hand polydactyly ORPHA:475
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Clubbing, Split hand, ... OMIM:600460
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Large hands, Bilateral single transverse palmar creases, Broad thumb, ... ORPHA:1770
Burn-Mckeown Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Atrial septal defect, Micrognathia OMIM:608572
Pallister-Hall Syndrome
Toe syndactyly, Ventricular septal defect, Mesoaxial hand polydactyly, Oligodactyly, Holoprosence... OMIM:146510
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, ... OMIM:612938
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... ORPHA:2306
Codas Syndrome
Ventricular septal defect, Abnormality of epiphysis morphology, Congenital hip dislocation, Short... ORPHA:1458
Trisomy 4P
Preaxial hand polydactyly, Radial club hand, Camptodactyly of finger ORPHA:1738
Larsen Syndrome
Ventricular septal defect, Knee dislocation, Pectus excavatum, Talipes equinovarus, Multiple carp... OMIM:150250
Digeorge Syndrome