Registered for phenotyping at IMPC

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

Gene Summary

Name:
TBC1 domain family, member 32
Synonyms:
C6orf170,  Bromi,  D630037F22Rik,  b2b2284Clo

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 Tbc1d32 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 Tbc1d32 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Long philtrum, Atrial septal defect, Truncus arteriosus, Short nose, Abno... ORPHA:401935
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Broad thumb, Coarctation of aorta, Patent ductus arteriosus, Bi... OMIM:612474
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Congenital malformation of the great arteries, Abnormal heart morpholog... ORPHA:294975
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Abdominal situs ambiguus, Single ventricle, Aorto... OMIM:208530
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Intestinal malrotation, Dextrocard... OMIM:605376
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Cleft upper lip, Cleft pala... OMIM:231060
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Oculoauricular Syndrome
Coloboma, Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcor... OMIM:612109
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... OMIM:217095
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Enlarged kidney, Short humerus, Anal atresia, Isomerism, Abse... OMIM:314390
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Unilateral renal agenes... OMIM:601355
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Renal agenesis, Underdeveloped nasal alae, Ventricular septal defect, Abnorma... ORPHA:2516
Thymic Aplasia With Fetal Death
Renal agenesis, Pulmonary hypoplasia, Truncus arteriosus, Ureteral agenesis OMIM:274210
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Hydrocephalus, Coloboma ORPHA:141333
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Lens subluxation, Retinal detachment,... ORPHA:171844
17Q12 Microduplication Syndrome
Atrial septal defect, Toe syndactyly, Finger syndactyly, Microphthalmia, Cleft palate, Tracheoeso... ORPHA:261272
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Gastrointestinal atresia, Abnormality of long bone m... ORPHA:1505
Holzgreve Syndrome
Hand polydactyly, Renal hypoplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal ... OMIM:236110
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Microspherophakia, Lens coloboma, Metaphyseal dysplasia, Lens subluxation, R... OMIM:157151
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Coarctation of aorta, Intestinal mal... ORPHA:3426
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Crossed fused renal ectopia, Elbow dislocation, Intestinal malrotation, Abnormality ... ORPHA:2538
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Underdeveloped nasal alae, Smooth philtrum, Thin upper lip vermilion, Cleft p... OMIM:611867
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, Congenital megaureter, Abnormality of... ORPHA:2437
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Broad nasal tip, Narrow mouth, Abnormal heart morphology, 2-3 toe syndacty... OMIM:239800
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Microphakia, Ectopia lentis, Hypoplasia of the ir... OMIM:617319
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Clinodactyly, Microphthalmia, Brachydactyly OMIM:233270
Catel-Manzke Syndrome
Talipes equinovarus, Ventricular septal defect, Coarctation of aorta, Camptodactyly, Ulnar deviat... OMIM:616145
16P13.11 Microduplication Syndrome
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Coarctation of aorta, Tetralog... ORPHA:261243
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Mosaic Trisomy 9
Bulbous nose, Elbow dislocation, Intestinal malrotation, Patent ductus arteriosus, Dextrocardia, ... ORPHA:99776
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edema, Pulmonary artery ... ORPHA:3384
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Anophthalmia, Cleft palate, Microphthalmia, ... OMIM:613885
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Cataract, Microcoria, Retinal dystrophy OMIM:263100
Mmep Syndrome
Ventricular septal defect, Oral cleft, Split foot, Microphthalmia, Triphalangeal thumb, Median cl... ORPHA:3434
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly, Ventricular se... ORPHA:2008
Microphthalmia, Syndromic 9
Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Pelvic kidney, Anophthalmia, A... OMIM:601186
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Atrial septal defect, Cutaneous syndactyly, Patent foramen ovale, Overlappin... OMIM:618316
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentation of the retina, Rod-c... OMIM:615990
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Abnormal heart morphology, Micromelia, Renal dysplasia, M... OMIM:241800
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma OMIM:613703
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricular septal defect, Renal... OMIM:612946
Microspherophakia With Hernia
Superior lens subluxation, Microspherophakia, Retinal detachment OMIM:157150
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Mesomelia, Hypoplasia of the uln... OMIM:228940
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Depressed nasal tip, Midshaft hypospadias, Ab... ORPHA:2863
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Atrial septal defect, Ventricular septal defect, Preaxial polydactyly, Paten... OMIM:618142
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the nose, Abnormality of the d... ORPHA:1794
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly, Esophageal va... OMIM:616589
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Preaxial polydactyly, Diastema, Post... OMIM:617927
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Esophageal atresia, Coarc... ORPHA:1923
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Broad thumb, Ventricular septal defect, Gastroesophageal reflux, 2-3 toe sy... OMIM:600987
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Biemond Syndrome Ii
Preaxial hand polydactyly, Iris coloboma, Hydrocephalus OMIM:210350
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Bilateral single... ORPHA:3033
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Shor... OMIM:136760
14Q11.2 Microdeletion Syndrome
Long philtrum, Toe syndactyly, Short nose, Narrow mouth, Ventricular septal defect, Everted lower... ORPHA:261120
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Anophthalmia, Wide nasal bridge, Pulmonary hy... OMIM:615524
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Dextrocardia, Microphthalmia, Cleft palate, Prominent nose OMIM:221950
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Optic disc hypoplasia, Patent ductus arteriosus, Esophageal atresia, T... OMIM:300514
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Aga... ORPHA:210122
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Unilateral cleft lip, Abnormal n... ORPHA:1919
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Tracheomalacia, Oral cleft, Foot polydactyly, Ectopic kidney, Micropht... ORPHA:268249
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Dextrocardia, Chronic rhinitis, Right aortic arch OMIM:617577
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Vacterl/Vater Association
Anorectal anomaly, Preaxial hand polydactyly, Renal agenesis, Finger syndactyly, Anencephaly, Mul... ORPHA:887
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus, Esophageal atresia, Micro... ORPHA:77298
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Cataract, Spina bifida occ... ORPHA:64754
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Emanuel Syndrome
Long philtrum, Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Conge... OMIM:609029
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Atrial septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Wide nas... ORPHA:3304
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Elbow dislocation, Abnormality of epiphysis morph... ORPHA:2631
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Schisis Association
Spina bifida, Anencephaly, Unilateral cleft lip, Anal atresia, Cleft palate, Renal agenesis, Trac... ORPHA:63862
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Renal hypoplasia, Short middle pha... OMIM:617926
Trisomy 13
Long philtrum, Multiple renal cysts, Atrial septal defect, Postaxial hand polydactyly, Ventricula... ORPHA:3378
Anophthalmia Plus Syndrome
Choanal atresia, Bilateral cleft lip and palate, Anophthalmia, Non-midline cleft lip, Cleft palat... ORPHA:1104
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Aortic aneurysm, Mitral valve prolapse, Intestinal malrotation, Duodenal... ORPHA:115
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal hypopl... ORPHA:3316
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Thick lower lip ver... OMIM:179613
Microgastria-Limb Reduction Defects Association
Secundum atrial septal defect, Intestinal malrotation, Biliary tract abnormality, Pelvic kidney, ... OMIM:156810
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Macrocytic anemia, Persistence of hemoglobin F, Ve... OMIM:612561
Floating-Harbor Syndrome
Carious teeth, Oligodontia, Short clavicles, Short thumb, Broad fingertip, Hip dysplasia, Disloca... ORPHA:2044
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thin upper lip vermili... OMIM:601927
Microphthalmia With Limb Anomalies
Sandal gap, Anophthalmia, High palate, Depressed nasal bridge, Postaxial hand polydactyly, Foot o... OMIM:206920
Macrosomia With Microphthalmia, Lethal
Respiratory infections in early life, Median cleft palate, Microphthalmia OMIM:248110
Mosaic Trisomy 1
Hepatic agenesis, Oral cleft, Long toe, Complete duplication of thumb phalanx, Elbow flexion cont... ORPHA:1692
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Fryns Syndrome
Intestinal malrotation, Short distal phalanx of finger, Vesicoureteral reflux, High palate, Media... ORPHA:2059
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Bilateral single transverse palmar c... ORPHA:1913
Esophageal Atresia
Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, Choanal atresia, ... ORPHA:1199
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Choanal atresia, Bilateral microphthalmos, Short foot, Clef... OMIM:607597
Congenital Tracheal Stenosis
Morphological abnormality of the gastrointestinal tract, Anomalous origin of left pulmonary arter... ORPHA:141127
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Anal a... OMIM:220210
Cerebrooculonasal Syndrome
Long philtrum, Postaxial hand polydactyly, Anophthalmia, Abnormality of the nares, Solitary media... ORPHA:66625
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Abnormal renal morphology, Atrial septal defect, Overriding aorta, Abnormal heart ... ORPHA:477817
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossification, Metap... OMIM:618889
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Esophageal atresia, Wide nasal bridge, Anal atresia, Microphthalmia, Cleft pala... OMIM:614083
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Ventricular septal defect, Portal inflammation, Hepatic bridging fibrosis, Howell-Jolly bodies, P... OMIM:613759
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Floating-Harbor Syndrome
Nephrocalcinosis, Atrial septal defect, Thin vermilion border, Downturned corners of mouth, Wide ... OMIM:136140
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Long philtrum, Talipes equinovarus, Narrow palate, Ventricular septal defect... OMIM:617022
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Preaxial polydactyly, Iris coloboma ORPHA:2921
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Vesi... ORPHA:1166
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Postaxial pol... OMIM:614500
Oculofaciocardiodental Syndrome
Oligodontia, Intestinal malrotation, Peripheral pulmonary artery stenosis, Patent ductus arterios... ORPHA:2712
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Bilateral microphthalmos, Oral cleft, Microphthalmia, Anophthalmia OMIM:611638
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Pat... OMIM:618845
Disorganization, Mouse, Homolog Of
Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip dislocation OMIM:223200
Opitz Gbbb Syndrome, Type Ii
Patent ductus arteriosus, High palate, Absent gallbladder, Abnormality of the kidney, Depressed n... OMIM:145410
Maternal Phenylketonuria
Long philtrum, Abnormal renal morphology, Deviated nasal septum, Abnormal heart morphology, Ventr... ORPHA:2209
Feingold Syndrome 1
4-5 toe syndactyly, Depressed nasal tip, Accessory spleen, Everted lower lip vermilion, 2-3 toe s... OMIM:164280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Holoprosencephaly, Hypoplasia of the ulna, Abnormal localization of kid... ORPHA:3186
Trisomy 1Q
Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Narrow mouth, Ventricular sep... ORPHA:261344
Fanconi Anemia
Abnormal carotid artery morphology, Hydroureter, Choanal atresia, Patent ductus arteriosus, Recur... ORPHA:84
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, V... OMIM:603387
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Non-midline cleft lip, Anencephaly, Aplasia/Hypoplasia o... ORPHA:2476
Gonadal Dysgenesis, Xy Type, With Associated Anomalies
Oral cleft, Broad palm, Cleft upper lip, Abnormal heart morphology OMIM:233430
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Foot oligodactyly, Bilateral cleft lip and palate, Cleft ... OMIM:601357
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Short 5th metacarpal, Patent ductus arteriosus, Abnormal hand mor... ORPHA:228190
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Duplicated collecting system, Neutropenia, Partial duplication of thumb... OMIM:227646
Rhombencephalosynapsis
Abnormal renal morphology, Short nose, Short phalanx of finger, Finger syndactyly, Polydactyly, N... ORPHA:59315
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Choanal stenosis, Optic disc hypoplasia, Choanal atresia, Sandal gap... OMIM:607323
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Hydroureter, Intestinal malrotation, Patent ductus arteriosu... OMIM:265380
Delpire-Mcneill Syndrome
Dysphagia, Hip dislocation, Tracheoesophageal fistula, Ventricular septal defect OMIM:619083
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Underdeveloped nasal alae, Ventricul... OMIM:192430
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Short 5th metacarpal, Sandal gap, Pulmonic stenosis, Perimembranous ventricular septa... OMIM:617877
Carpenter Syndrome 1
Flared iliac wing, Hydroureter, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Spi... OMIM:201000
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Apert Syndrome
Anomalous tracheal cartilage, Narrow palate, Choanal atresia, Hydrocephalus, Depressed nasal brid... OMIM:101200
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Pseudocoarctation of the aorta, Short finger, Short 5th metacarpal, Patent ductus arte... OMIM:604381
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Underdeveloped nasal a... OMIM:608572
Pentalogy Of Cantrell
Atrial septal defect, Renal agenesis, Abnormality of tibia morphology, Ventricular septal defect,... ORPHA:1335
Thakker-Donnai Syndrome
Bulbous nose, Narrow mouth, Ventricular septal defect, Downturned corners of mouth, Rectovaginal ... ORPHA:1780
Laryngotracheoesophageal Cleft Type 4
Abnormality of mesentery morphology, Abnormality of the spleen, Laryngomalacia, Tracheal stenosis... ORPHA:93941
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Underdeveloped nasal alae, Choanal atresia, Recurrent urinary tract infections, San... ORPHA:261330
Oculoauriculovertebral Spectrum With Radial Defects
Triphalangeal thumb, Short mandibular rami, Preaxial hand polydactyly, Distal urethral duplicatio... ORPHA:2549
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Submucous cleft lip, Patent ductus arteriosus, High ... ORPHA:96170
Ivic Syndrome
Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Patent ductus arteriosus,... OMIM:147750
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Abnormality of the urinary system, Gastr... ORPHA:1834
Kapur-Toriello Syndrome
Overlapping fingers, Camptodactyly of finger, Atrial septal defect, Bulbous nose, Ventricular sep... OMIM:244300
Bardet-Biedl Syndrome 7
Polydactyly, Rod-cone dystrophy OMIM:615984
Intellectual Disability, Wolff Type
Camptodactyly of finger, Broad thumb, Bulbous nose, Thick lower lip vermilion, Large hands, Non-m... ORPHA:3080
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia, Coloboma OMIM:613094
Johnson Neuroectodermal Syndrome
Carious teeth, Choanal stenosis, Ventricular septal defect, Anosmia, Patent ductus arteriosus, Cl... OMIM:147770
17Q21.31 Microduplication Syndrome
Short philtrum, Toe syndactyly, Short nose, Abnormality of the dentition, Sandal gap, High palate... ORPHA:217340
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Large hands, Oral cleft, Cleft upper lip, Broad nasal tip ORPHA:85287
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short nose, Short phalanx of finger, Bulbous nose, Ventricular septal defec... OMIM:613458
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Finger syndactyly, Mesomelia, Non-midline clef... ORPHA:1908
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Bicuspid aortic valve, Coarctation of aorta, Dilated cardiomyopathy,... OMIM:613426
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Postaxial polysyndactyly of foot, Crossed fused renal ectopia, Abnormality of ... ORPHA:2919
Mullegama-Klein-Martinez Syndrome
Long philtrum, Short philtrum, Bulbous nose, Polydactyly, Coarctation of aorta, Smooth philtrum, ... OMIM:301022
Chromosome 13Q33-Q34 Deletion Syndrome
Open mouth, Camptodactyly, Patent ductus arteriosus, Choanal atresia, Anencephaly, Short thumb, H... OMIM:619148
Pallister-Hall Syndrome
Y-shaped metacarpals, Hydroureter, Natal tooth, Choanal atresia, Patent ductus arteriosus, Mesoax... OMIM:146510
Seckel Syndrome 9
Convex nasal ridge, Atrial septal defect, Ventricular septal defect, Recurrent urinary tract infe... OMIM:616777
8P23.1 Microdeletion Syndrome
Broad thumb, Short nose, Abnormal aortic morphology, Broad hallux phalanx, Patent ductus arterios... ORPHA:251071
Nail-Patella Syndrome
Keratoconus, Spina bifida, Limited elbow extension, Triceps aplasia, Biceps aplasia, Talipes equi... OMIM:161200
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Retinal dysplasia, Ocular anterior segment dysgenesis, Micropht... ORPHA:324416
Pagod Syndrome
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Multicystic kidn... ORPHA:991
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Broad nasal tip, Central Y-shaped metacarpal, Tongue n... OMIM:277170
Bardet-Biedl Syndrome 11
Polydactyly, Retinopathy OMIM:615988
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Hydrolethalus Syndrome 2
Postaxial polydactyly, Preaxial polydactyly, Hydrocephalus, Anencephaly OMIM:614120
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Clinodactyly, Small hand, Short foot, High palate, Short 5th finger, ... OMIM:300577
Autosomal Recessive Amelia
Acromelia of the lower limbs, Amelia involving the upper limbs, Non-midline cleft lip, Oral cleft... ORPHA:1027
Opitz Gbbb Syndrome
Natal tooth, Patent ductus arteriosus, Vesicoureteral reflux, Aortic root aneurysm, Patent forame... ORPHA:2745
Hydrolethalus
Postaxial hand polydactyly, Arrhinencephaly, Micromelia, Tracheal atresia, Anencephaly, Gingival ... ORPHA:2189
Tetralogy Of Fallot
Thin vermilion border, Tetralogy of Fallot, Clinodactyly of the 5th finger, Brachydactyly, Abnorm... ORPHA:3303
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Irregular dentition, Cleft lower lip, Cleft upper lip, Median cleft lip ORPHA:401942
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Narrow mouth, Downturned corners of mouth, Abnormal aortic arch morphology, Abnorm... ORPHA:1110
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Ocular anterior segment dysgenesis, Peters anomaly, Syndactyly, Clinodac... OMIM:610023
Vater/Vacterl Association
Choanal atresia, Patent ductus arteriosus, Absent radius, Vesicoureteral reflux, Short thumb, Tri... OMIM:192350
Facial Clefting, Oblique, 1
Deep palmar crease, Facial cleft, Cleft upper lip, Cleft palate OMIM:600251
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly, Rod-cone dystrophy, Macular dystrophy OMIM:615983
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Autosomal Dominant Keratitis
Aniridia, Coloboma, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcorne... ORPHA:2334
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Narrow greater sciatic notch, Absent gal... OMIM:617925
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Microphthalmia, Cleft upper lip, Cleft palate OMIM:120433
Dextrocardia
Meckel diverticulum, Abnormal renal morphology, Situs inversus totalis, Congenital hip dislocatio... ORPHA:1666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Retinal atrophy, Coloboma, Retinal degeneration, Retinal dysplasia, Cataract, Megalo... OMIM:253280
Hardikar Syndrome
Ventricular septal defect, Hydroureter, Coarctation of aorta, Portal hypertension, Intestinal mal... OMIM:612726
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Wide nasal bridge, Abnormal cardiac septum morphology, Pro... ORPHA:1200
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Frontofacionasal Dysplasia
Short nose, Depressed nasal ridge, Choanal atresia, Non-midline cleft lip, Cleft palate, Micropht... ORPHA:1791
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Hypoplastic right heart, Short phalanx of finger, Downturned corners of mouth, Campt... OMIM:616894
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular roof, High pa... OMIM:614091
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides OMIM:606574
Frontonasal Dysplasia 3
Underdeveloped nasal alae, Wide nasal bridge, Microphthalmia, Cleft palate, Facial cleft OMIM:613456
Recombinant 8 Syndrome
Camptodactyly of finger, Atrial septal defect, Downturned corners of mouth, Ventricular septal de... ORPHA:96167
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... OMIM:129540
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Constricting Bands, Congenital
Hand polydactyly, Ectopia cordis, Syndactyly, Bladder exstrophy, Cleft palate, Cleft upper lip, T... OMIM:217100
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Postaxial hand polydactyly,... OMIM:264480
Odontochondrodysplasia 1
Nephronophthisis, Short phalanx of finger, Flared iliac wing, Flat acetabular roof, Small epiphys... OMIM:184260
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Polycystic kidney dy... OMIM:617866
Acromelic Frontonasal Dysostosis
Broad nasal tip, Polydactyly, Midline defect of the nose, Preaxial polydactyly, Wide nasal bridge... OMIM:603671
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Renpenning Syndrome
Short philtrum, Abnormal thumb morphology, Narrow mouth, High, narrow palate, Anal atresia, Heter... ORPHA:3242
Femoral-Facial Syndrome
Short fifth metatarsal, Abnormal renal collecting system morphology, Underdeveloped nasal alae, M... OMIM:134780
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Abnormality... ORPHA:1727
Acrofacial Dysostosis, Weyers Type
Overlapping fingers, Postaxial hand polydactyly, Abnormality of the dentition, Hypodontia, Solita... ORPHA:952
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Clinodactyly, Double outl... OMIM:618164
Marden-Walker Syndrome
Long philtrum, Talipes equinovarus, Narrow mouth, Anteverted nares, Zollinger-Ellison syndrome, R... OMIM:248700
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Bardet-Biedl Syndrome 22
Polydactyly, Rod-cone dystrophy OMIM:617119
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Short nose, Abnormality of the metacarpal bones, Abnormality of pelvic girdle bone... ORPHA:2370
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Pectoral muscle hypoplasia/aplasia, Underdeveloped nasal alae, Finger cl... ORPHA:306542
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Brachydactyly, Ectopia lentis, Microspherophakia OMIM:614819
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Ureteral duplication, H... ORPHA:1926
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Bacterial endocarditis, C... ORPHA:1330
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Atrial septal defect, Dysphagia, Hypoplastic spleen, Wide nasal bridge, Paten... ORPHA:89844
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Hypoplastic pelvis, Renal hypoplasia, Rhizomelia, Preaxial polydactyly, Pate... OMIM:616300
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndac... ORPHA:380
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Esophageal atresia, Choanal atresia, Duodenal atresia, Muscular ventri... OMIM:619227
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... OMIM:218530
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Renal hypoplasia, 2-3 toe syndactyly, Single transverse palmar crease, Brachydactyl... OMIM:236500
Keutel Syndrome
Short hallux, Recurrent bronchitis, Epiphyseal stippling, Premature fusion of phalangeal epiphyse... OMIM:245150
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Ectopia cordis, Cleft palate, Pulmonary hypoplasia, Cleft ... OMIM:313850
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly, Rod-cone dystrophy, Retinal dystrophy OMIM:605231
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Split hand, Coarctation of aorta, Patent duct... OMIM:600460
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Pneumonia, High palate, Micropenis, Wide nose, Recurrent upper respir... OMIM:300209
Meier-Gorlin Syndrome 7
Atrial septal defect, Narrow mouth, Anal stenosis, Ventricular septal defect, Complete atrioventr... OMIM:617063
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... ORPHA:370097
Acro-Renal-Mandibular Syndrome
Short philtrum, Hypoplasia of the radius, Rudimentary fibula, Finger syndactyly, Split hand, High... ORPHA:958
Charge Syndrome
Choanal atresia, Patent ductus arteriosus, Double outlet right ventricle, Absent radius, Short th... OMIM:214800
Bardet-Biedl Syndrome 12
Polydactyly, Rod-cone dystrophy OMIM:615989
Foveal Hypoplasia 2
Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve misrouting, Microp... OMIM:609218
Ring Chromosome 8 Syndrome
Short nose, Abnormality of the ureter, Hydronephrosis, Anteverted nares, Deviation of finger ORPHA:1450
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular se... OMIM:306955
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Microphthalmia With Limb Anomalies
Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transv... ORPHA:1106
3P25.3 Microdeletion Syndrome
Broad thumb, Downturned corners of mouth, Pyloric stenosis, Patent ductus arteriosus, Postaxial p... ORPHA:435638
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia ORPHA:1574
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Shor... OMIM:617516
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Abnormality of the mouth, Intestinal bleeding OMIM:600195
Fraser Syndrome 1
Underdeveloped nasal alae, Choanal stenosis, Dental crowding, Anophthalmia, Renal hypoplasia/apla... OMIM:219000
Charlie M Syndrome
Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Split hand, Non-midline c... ORPHA:1406
Adams-Oliver Syndrome
Absent hand, Cirrhosis, Gastrointestinal hemorrhage, Finger syndactyly, Split hand, Esophageal va... ORPHA:974
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Short nose, Hydroureter, Patent ductus arteriosus, Symphalangism affecti... ORPHA:2547
Acrofacial Dysostosis, Catania Type
Carious teeth, Short nose, Finger syndactyly, Abnormal palate morphology, Smooth philtrum, Bilate... ORPHA:1786
Hemifacial Microsomia
Branchial anomaly, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Wid... OMIM:164210
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pulmonary hypo... ORPHA:2257
Congenital Laryngomalacia
Laryngomalacia, Non-midline cleft lip, Cleft palate ORPHA:2373
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Atrial septal defect, Narrow mouth, Ventricular septal defect,... ORPHA:3469
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Genu valgum, Aplasia/Hypoplasia of the lens ORPHA:1381
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Coloboma Of Macula With Type B Brachydactyly
Coloboma, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the th... OMIM:120400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Pelvic kidney, Long philtrum, Preaxial hand polydactyly, Truncus arteriosus, Thin up... ORPHA:508498
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Hepatic fibrosis, Ventricular septal defect ORPHA:306550
Hereditary Mucoepithelial Dysplasia
Hematuria, Pulmonary fibrosis, Recurrent respiratory infections, Abnormality of the bladder, Furr... ORPHA:1839
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Rocker bottom foot, Microphthalmia, Cleft palate OMIM:616570
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Ventricular hypertrophy, Atrial septal defect, Short nose, Sandal gap, Tetralogy o... OMIM:300887
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Serkal Syndrome
Malrotation of small bowel, Hypoplasia of the bladder, Ventricular septal defect, Abnormal penis ... ORPHA:139466
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Ventricular septal defect, Broad hal... ORPHA:2876
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Bulbous nose, Clinodactyly, Patent foramen ovale, Talipes equinovarus, Transposition of the great... OMIM:616789
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Meckel Syndrome, Type 4
Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Bowing of the long b... OMIM:611134
Tetralogy Of Fallot
Tetralogy of Fallot, Clinodactyly of the 5th finger OMIM:187500
Meckel Syndrome, Type 6
Postaxial hand polydactyly, Hand polydactyly, Anencephaly, Pulmonary hypoplasia, Renal cyst, Clef... OMIM:612284
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Abnormality of the bladder, Bilateral renal hypoplasia, De... ORPHA:49
Infantile Myofibromatosis
Abnormality of the kidney, Gingival fibromatosis, Neoplasm of the lung, Abnormality of the metaph... ORPHA:2591
Developmental Delay With Or Without Dysmorphic Facies And Autism
Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Vesicoureteral reflux, Patent fora... OMIM:618454
Bardet-Biedl Syndrome 17
Situs inversus totalis, Mesoaxial polydactyly, Polydactyly, Dextrocardia, Renal cyst, Stage 5 chr... OMIM:615994
Mosaic Trisomy 16
Short forearm, Patent ductus arteriosus, Short thumb, Short femoral neck, Abnormality of the gast... ORPHA:1708
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Anophthalmia, Abnormality of fibula morphology, Arthralgia o... ORPHA:93323
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Orofaciodigital Syndrome Viii
Broad nasal tip, Polydactyly, Short tibia, Hypoplasia of the epiglottis, Syndactyly, Cleft palate... OMIM:300484
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Non-midline cleft lip, Sandal gap, Aplasia/Hypop... ORPHA:2725
Vacterl With Hydrocephalus
Spina bifida, Hypoplasia of the radius, Renal agenesis, Arrhinencephaly, Esophageal atresia, Aque... ORPHA:3412
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Cho... ORPHA:861
Charge Syndrome
Abnormality of tibia morphology, Narrow mouth, Choanal atresia, Patent ductus arteriosus, Vesicou... ORPHA:138
Tonne-Kalscheuer Syndrome
Broad thumb, Narrow mouth, Downturned corners of mouth, Abnormal heart morphology, Dysphagia, Wid... OMIM:300978
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
8P23.1 Duplication Syndrome
Long philtrum, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenos... ORPHA:251076
Baraitser-Winter Syndrome 1
Long philtrum, Short nose, Micropenis, Duplication of phalanx of hallux, Patent ductus arteriosus... OMIM:243310
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hydronephrosis, H... OMIM:602418
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Underdeveloped nasal alae, Cleft ala nasi, Non-midline cleft lip, Wide nasal ... ORPHA:2007
Ververi-Brady Syndrome
Bulbous nose, Metaphyseal irregularity, Wide nose, Broad nasal tip, Clinodactyly of the 5th finge... OMIM:617982
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Intestinal malrotation, Patent ductus arteriosus, Recurr... ORPHA:2970
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Elbow dislocation, Hypoplastic f... ORPHA:90652
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Atrial septal def... ORPHA:2655
Feingold Syndrome Type 1
Gastrointestinal atresia, Patent ductus arteriosus, Vesicoureteral reflux, Short thumb, Multiple ... ORPHA:391641
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs, Renal cyst OMIM:138790
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly, Multicystic kidney dy... ORPHA:2091
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, Abnormality of the urinary system, 2-3 toe syndactyly, Cutaneous fing... DECIPHER:46
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Interrupted aortic arch, Ventricular septal defect, Everted lower lip ve... OMIM:616920
22Q11.2 Deletion Syndrome
Carious teeth, Abnormal dental enamel morphology, Bulbous nose, Narrow mouth, Choanal atresia, In... ORPHA:567
Diprosopus
Abnormal cardiac septum morphology, Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect OMIM:235750
Mckusick-Kaufman Syndrome
Tarsal synostosis, Patent ductus arteriosus, Abnormality of the metacarpal bones, Renal hypoplasi... ORPHA:2473
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Orofaciodigital Syndrome V
Postaxial hand polydactyly, Horseshoe kidney, Aganglionic megacolon, Postaxial foot polydactyly, ... OMIM:174300
Verheij Syndrome
Long philtrum, Short nose, Renal hypoplasia, Wide nasal bridge, Thin upper lip vermilion, Clinoda... OMIM:615583
Congenital Hypothyroidism
Macroglossia, Abnormality of epiphysis morphology, Anosmia, Abnormal pericardium morphology, Sinu... ORPHA:442
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Polydactyly, Smooth philtrum, Syndactyly, Nephroblastoma, Microphthalm... OMIM:602501
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormality of the upper urinary tract, Abn... ORPHA:1705
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Attenuation of retinal blood vessels, Polydactyly, Postaxial polydact... OMIM:615986
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus ... ORPHA:3097
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Meckel Syndrome, Type 5
Postaxial hand polydactyly, Abnormality of the urinary system, Bowing of the long bones, Anenceph... OMIM:611561
Hyperlysinemia
Recurrent pneumonia, Decreased urine alpha-ketoglutarate concentration, Dysphagia, Gastroesophage... ORPHA:2203
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Broad palm, Intestinal malrotation, Bilateral cleft lip and palate, Ab... OMIM:601165
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Double outlet right ventricle, Vesicoureteral reflux, Leukopenia, M... OMIM:301056
Renal Agenesis, Bilateral
Sirenomelia, Non-midline cleft lip, Pulmonary hypoplasia, Cleft palate, Renal agenesis, Abnormal ... ORPHA:1848
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Ventricular septal defect, Single transverse palmar crease, Left ve... OMIM:618619
Hyperphosphatasia With Mental Retardation Syndrome 1
Short toe, Abnormal renal morphology, Short philtrum, Short nose, Broad nasal tip, Abnormal heart... OMIM:239300
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Short nose, Bulbous... OMIM:613870
Microphthalmia, Syndromic 8
Oral cleft, Split foot, Microphthalmia, Cleft upper lip, Cleft palate, Widely-spaced maxillary ce... OMIM:601349
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Gastr... ORPHA:2306
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Preaxial hand polydactyly, Abnormal ... OMIM:175700
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Hitchhiker thumb, Short middle phalanx of finger, Short greater sciatic no... OMIM:256050
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Pulmonary hypoplasia, ... ORPHA:2141
Faciothoracogenital Syndrome
Glandular hypospadias, Long philtrum, Smooth philtrum, Thin upper lip vermilion, Microphthalmia, ... OMIM:227320
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
20Q13.33 Microdeletion Syndrome
Abnormality of limb bone morphology, Thin vermilion border, Atrial septal defect, Bulbous nose, H... ORPHA:261311
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Cholestasis,... OMIM:615382
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
3C Syndrome
Intestinal malrotation, Oral cleft, High, narrow palate, Depressed nasal bridge, Abnormal tricusp... ORPHA:7
Heart Defects, Congenital, And Other Congenital Anomalies
Intestinal malrotation, Patent ductus arteriosus, Pancreatic hypoplasia, Microcolon, Pulmonary ar... OMIM:600001
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Intestinal malrotation, Postaxial polydactyly, Short digit, Micropenis, Femo... OMIM:613091
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... ORPHA:2879
Cutis Laxa, Autosomal Recessive, Type Ic
Sandal gap, Long philtrum, Emphysema, Gastroesophageal reflux, Bronchomalacia, Umbilical hernia, ... OMIM:613177
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Short nose, Vascular dilatation, Wide nasal bridge, Anteverted nares, Depressed na... OMIM:616430
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Bulbous nose, Open mouth, Downturned corners of mouth, Patent ductus arteriosus, Short distal pha... OMIM:220500
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Bartsocas-Papas Syndrome 1
Short phalanx of finger, Underdeveloped nasal alae, Absent radius, Short thumb, Absent palmar cre... OMIM:263650
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Short nose, Anteverted nares, Ventricular septal defect, Pleural effusion, Limb unde... OMIM:616897
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Distal Monosomy 15Q
Patent ductus arteriosus, Short distal phalanx of finger, Micropenis, Genu valgum, Finger clinoda... ORPHA:1596
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Hartsfield Syndrome
Split hand, Non-midline cleft lip, Aplasia/Hypoplasia of the radius, Microphthalmia, Lobar holopr... ORPHA:2117
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal palate morphology, Abnormal hip bone morphology, Hypoplasia of penis, Clinodactyly of th... ORPHA:3068
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Abnormal heart morphology, Anal atresia, Hydronephrosis, Rectal atresia... OMIM:613390
Juberg-Hayward Syndrome
Limited elbow extension, Horseshoe kidney, Abnormality of the radial head, Aplasia/Hypoplasia of ... OMIM:216100
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, Broad thumb, Dent... ORPHA:353281
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Microphthalmia, Cleft upper lip, Cleft palate, Talipes equinovarus, Anteverted... OMIM:612530
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Recurrent respiratory infections, Microphthalmia ORPHA:2432
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Short philtrum, Toe syndactyly, Hand clenching, Microphthalmia, Bullet-s... ORPHA:1617
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Pulmonary hypoplasia, Intestinal malrotation, Multicystic kidney dysplasia ORPHA:3032
Rosselli-Gulienetti Syndrome
Cutaneous syndactyly of toes, Abnormality of the philtrum, Anodontia, Hypodontia, Cutaneous finge... OMIM:225000
Distal Tetrasomy 15Q
Atrial septal defect, Horseshoe kidney, Hydrocephalus, Abnormal heart morphology, Camptodactyly, ... ORPHA:314588
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Natal tooth, Intestinal malrotation, Patent ductus arteriosus, Anencep... OMIM:249000
Acrocallosal Syndrome
Thin vermilion border, Hypoplasia of teeth, Open mouth, Rectovaginal fistula, Triangular mouth, H... OMIM:200990
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Absent radius, Triphalangeal thumb, Hallux valgus, Limited elbow extens... OMIM:154400
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Atrial septal defect, Short nose, Ventricular septal defect, Finger clinodactyly, ... OMIM:617602
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Preaxial hand polydactyly,... ORPHA:1120
Craniofacioskeletal Syndrome
Short philtrum, Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Hypopla... OMIM:300712
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Renal... ORPHA:75389
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Premature graying of hair, Abnormality of the optic nerve, Generalized ... ORPHA:33445
C Syndrome
Patent ductus arteriosus, High palate, Dislocated radial head, Postaxial hand polydactyly, Limb u... OMIM:211750
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Polyspleni... OMIM:613807
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Hypertrophic cardiomyopathy OMIM:614096
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Hypoplasia of the radius, Ventricular septal defect, Micromelia, Hypoplastic ilia,... OMIM:617895
Temtamy Syndrome
Abnormal palate morphology, Clinodactyly of the 5th finger, Microphthalmia, Genu varum, Short toe... ORPHA:1777
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Short nose, Cleft palate ORPHA:2015
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Holoprosencephaly, Pyriform aperture stenosis, Torus palatinus, ... OMIM:147250
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Orofaciodigital Syndrome Type 6
Hand polydactyly, Renal agenesis, Central Y-shaped metacarpal, Tongue nodules, Abnormal heart mor... ORPHA:2754
Endocrine-Cerebroosteodysplasia
Depressed nasal tip, Microphallus, Hyperechogenic kidneys, Enlarged kidney, Polydactyly, Micropen... OMIM:612651
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Abnormal heart morphology, Smooth philtrum, Ulnar deviation of the han... OMIM:263210
Triploidy
Macroglossia, Narrow mouth, Finger syndactyly, Holoprosencephaly, Intestinal malrotation, Wide mo... ORPHA:3376
Holoprosencephaly
Choanal atresia, Solitary median maxillary central incisor, Aplasia/Hypoplasia of the lungs, Anop... ORPHA:2162
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Tetralogy of Fallot, Microphallus, Micropenis OMIM:615542
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Chordee, Ventricular septal defect, Anal atresia, Microphthalmia, Overridin... OMIM:309801
Opitz Gbbb Syndrome, Type I
Abnormal nasopharynx morphology, Abnormal heart morphology, Dysphagia, Gastroesophageal reflux, P... OMIM:300000
Chromosome 18Q Deletion Syndrome
Choanal stenosis, Downturned corners of mouth, Patent ductus arteriosus, Absence of the pulmonary... OMIM:601808
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Rena... OMIM:603194
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Cholesta... OMIM:610205
Mirage Syndrome
Overlapping fingers, Radial club hand, Rocker bottom foot, Microphallus, Lymphopenia, Gastroesoph... OMIM:617053
Humero-Radial Synostosis
Chorioretinal coloboma, Tarsal synostosis, Elbow dislocation, Iris coloboma, Elbow ankylosis, Men... ORPHA:3265
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Underdeveloped nasal alae, Limb dupli... ORPHA:2378
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, 2-3 toe syndactyly, Thick vermilion border, Hypodontia, Clinodactyly... OMIM:617061
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Dextrocardia, Cleft upper lip, Cleft palate, Abnormal cardiac septum ... OMIM:614294
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Toe syndactyly, Short nose, Radioulnar synostosis, Renal ag... ORPHA:171839
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, Broad thumb, Dent... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, Broad thumb, Dent... ORPHA:353277
Keratoconus Posticus Circumscriptus
Recurrent urinary tract infections, Vesicoureteral reflux, Limited elbow extension and supination... OMIM:244600
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Zechi-Ceide Syndrome
Oligodontia, Short metatarsal, Underdeveloped nasal alae, Wide nasal bridge, Sandal gap, Short di... OMIM:612916
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Kniest Dysplasia
Dumbbell-shaped femur, Flexion contracture of finger, Enlarged epiphyses, Lens luxation, Enlarged... ORPHA:485
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Downturned corners of mouth, Laryngeal hypoplasia, Pierre-Robin sequence, Short palm,... OMIM:217980
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Atrial septal defect, Postaxial hand polydactyly, Preaxial hand... OMIM:263520
Carpenter Syndrome 2
Narrow palate, Broad thumb, Camptodactyly, Patent ductus arteriosus, Postaxial polydactyly, Dextr... OMIM:614976
Feingold Syndrome
Toe syndactyly, Patent ductus arteriosus, Esophageal atresia, Brachydactyly, Deviation of the 2nd... ORPHA:1305
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Partial diaphragmatic absence of pericardium, Pulmonary sequestration, Atria... ORPHA:2847
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Postaxial hand polydactyly, Complete atrioventricular canal defect, Hamart... OMIM:217085
Progeroid Facial Appearance With Hand Anomalies
Thin vermilion border, Short philtrum, Narrow mouth, Joint contracture of the 5th finger, Cutaneo... OMIM:602249
Microphthalmia, Syndromic 2
Oligodontia, Patent ductus arteriosus, Sandal gap, Hammertoe, Dextrocardia, Double outlet right v... OMIM:300166
1Q21.1 Microdeletion Syndrome
Ankyloglossia, Talipes equinovarus, Long philtrum, Broad thumb, Bulbous nose, Interrupted aortic ... ORPHA:250989
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Abnormality of the philtrum, Ventricular septal defect, Large hands, Non-midline cle... ORPHA:1770
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Long philtrum, Short nose, Open mouth, Downturned corners of mouth, Restrictive cardiomyopathy, D... OMIM:615398
Bardet-Biedl Syndrome 16
Renal insufficiency, Bronchiolitis, Recurrent respiratory infections, Renal dysplasia, Renal cyst... OMIM:615993
Tarp Syndrome
Tongue nodules, Postaxial polydactyly, Alveolar ridge overgrowth, Hypoplasia of proximal radius, ... ORPHA:2886
Oculocerebrocutaneous Syndrome
Cleft palate, Congenital hip dislocation, Microphthalmia, Anophthalmia OMIM:164180
Williams Syndrome
Open bite, Carious teeth, Abnormal carotid artery morphology, Abnormal dental enamel morphology, ... ORPHA:904
Acromicric Dysplasia
Abnormality of femur morphology, Short nose, Bulbous nose, Abnormality of epiphysis morphology, F... ORPHA:969
Pierpont Syndrome
Prominent median palatal raphe, Deep palmar crease, Short toe, Thin vermilion border, Short nose,... OMIM:602342
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Underdeveloped nasal alae, Choanal atresia, Patent ductus arteriosus, Long toe, Toe clinodactyly,... ORPHA:163979
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the dentition, Syndactyly, Renal cyst, Brachydactyly, Abnormality of ... OMIM:615982
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Pulmonary hypoplasia, Bilatera... OMIM:611812
Short-Rib Thoracic Dysplasia 12
Natal tooth, Intestinal malrotation, Hamartoma of tongue, Anencephaly, Patent ductus arteriosus, ... OMIM:269860
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Preaxial polydactyly, Postaxial polydactyly, Short long bone, Pulmonar... OMIM:615503
3Mc Syndrome 3
Horseshoe kidney, Radioulnar synostosis, Preaxial polydactyly, Penoscrotal hypospadias, Clinodact... OMIM:248340
Genitopatellar Syndrome
Long philtrum, Delayed eruption of teeth, Atrial septal defect, Radioulnar synostosis, Hypoplasti... ORPHA:85201
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Bulbous nose, Broad nasal tip, Everted lower lip vermilion, Thick vermilion borde... ORPHA:411986
Genitopalatocardiac Syndrome
Postaxial hand polydactyly, Downturned corners of mouth, Non-midline cleft lip, Multicystic kidne... ORPHA:2075
Fryns Syndrome
Camptodactyly, Intestinal malrotation, Short distal phalanx of finger, Short thumb, Ureteral dupl... OMIM:229850
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Thin vermilion border, Open mouth, Patent ductus arteriosus, Ureteral ... OMIM:614080
Jeune Syndrome
Abnormality of retinal pigmentation, Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epip... ORPHA:474
X-Linked Intellectual Disability, Nascimento Type
Thin vermilion border, Underdeveloped nasal alae, Downturned corners of mouth, Peripheral pulmona... ORPHA:163956
Ellis Van Creveld Syndrome
Thin vermilion border, Hydroureter, Short distal phalanx of finger, Dextrocardia, Aplasia/Hypopla... ORPHA:289
Kleefstra Syndrome
Downturned corners of mouth, Vesicoureteral reflux, Pulmonary artery stenosis, Renal insufficienc... ORPHA:261494
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy, Iris coloboma, Hydrocephalus ORPHA:2185
Koolen-De Vries Syndrome
Pear-shaped nose, Narrow palate, Bulbous nose, Open mouth, Patent ductus arteriosus, Recurrent ur... OMIM:610443
Timothy Syndrome
Cutaneous syndactyly, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:601005
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... OMIM:602088
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormality of the columella, Hip dysplasia, Atrial septal defect, Abnormality of finger, Underde... ORPHA:436003
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Short 5th metacarpal, Abnormality of the hand, Brachydactyly... ORPHA:1264
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Tongue nodules, Polydactyly, Lobulat... OMIM:311200
Stevenson-Carey Syndrome
Hip dysplasia, Atrial septal defect, Narrow mouth, Downturned corners of mouth, Underdeveloped na... OMIM:611961
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplas... OMIM:619165
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Retinal detachment, Aplasia/Hypoplasia of the lens ORPHA:85194
Oligomeganephronia
Branchial cyst, Decreased numbers of nephrons, Proteinuria, Secundum atrial septal defect, Unilat... ORPHA:2260
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Short nose, Bulbous nose, Abnormal heart morphology, Ventricular septal ... ORPHA:284169
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex OMIM:616517
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Camptodactyly, Limb undergrowth, Cleft upper lip, Cleft palate, Joint contra... OMIM:601016
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Aphalangy With Hemivertebrae
Ventricular septal defect, Aphalangy of the hands, Pulmonary hypoplasia, Aplasia of the phalanges... OMIM:207620
Platyspondylic Dysplasia, Torrance Type
Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, Metaphyseal cupping, Bowing of the long bon... ORPHA:85166
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Gastroesophageal ... OMIM:600123
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Pancreatic fibrosis, Anophthalmia, Ureteral duplication, Depres... ORPHA:564
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Intestinal malrotation, Aplasia/Hypoplasia of the radius, ... ORPHA:2973
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Everted lower lip vermilion, P... OMIM:249670
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Chromosome 6Pter-P24 Deletion Syndrome
Hip dysplasia, Rocker bottom foot, Atrial septal defect, Narrow mouth, Broad toe, Ventricular sep... OMIM:612582
Chromosome 3Pter-P25 Deletion Syndrome
Long philtrum, Abnormal renal morphology, Thin vermilion border, Anteverted nares, Downturned cor... OMIM:613792
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Broad thumb, Abnormal aortic morphology, Patent ductus arteriosus, Intestinal malrotation, Bilate... ORPHA:2001
Neu-Laxova Syndrome 1
Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ovale, Rocker botto... OMIM:256520
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Hypertelorism And Tetralogy Of Fallot
Long philtrum, Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Hypospa... OMIM:239711
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Gastroesophageal reflux, Patent ductus arteriosus, Aplasia of the nose... OMIM:301043
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Narrow mouth, Forearm undergrowth, Pulmonary hypoplasia, A... OMIM:251230
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal common car... ORPHA:449400
Sirenomelia