Gene Summary

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

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal embryo size Tbc1d32em1(IMPC)J HOM E18.5 0.00
anophthalmia Tbc1d32em1(IMPC)J HOM E18.5 0.00
cleft palate Tbc1d32em1(IMPC)J HOM E18.5 0.00
polydactyly Tbc1d32em1(IMPC)J HOM E18.5 0.00
abnormal facial morphology Tbc1d32em1(IMPC)J HOM E18.5 0.00
abnormal body wall morphology Tbc1d32em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Tbc1d32em1(IMPC)J HOM   Early adult 0.00
facial cleft Tbc1d32em1(IMPC)J HOM E18.5 0.00
hemorrhage Tbc1d32em1(IMPC)J HOM E18.5 0.00
edema Tbc1d32em1(IMPC)J HOM E18.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Skull Lateral Orientation

7 Images

Electroretinography 3

Fundus file

10 Images

MicroCT E18.5

Embryo reconstruction

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

X-ray

XRay Images Forepaw

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

Gross Morphology Embryo E18.5

Images

4 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

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
Wide nasal bridge, Short thumb, Long philtrum, Intestinal malrotation, Abnormal heart morphology,... ORPHA:401935
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb ... ORPHA:294975
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Intestinal malrota... OMIM:605376
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Genitopalatocardiac Syndrome
Cleft upper lip, Right aortic arch, Ventricular septal defect, Renal cyst, Double outlet right ve... OMIM:231060
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c... OMIM:306955
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Renal agenesis, Underdeveloped nasal alae, A... ORPHA:2516
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Short distal phalanx of finger, Hydranencephaly, Underdeveloped nasal ... OMIM:601355
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Hydronephrosis, Persistent left superior vena cava,... OMIM:314390
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall... OMIM:300963
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural ... OMIM:600776
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Deep palmar crease, Microphthalmia, Cleft palate OMIM:600251
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Hyperechogenic kidneys, Anophthalmia, Encephalocele, Po... OMIM:613885
Joubert Syndrome 15
Preaxial polydactyly, Retinopathy, Exencephaly, Coloboma, Retinal dystrophy OMIM:614464
Holzgreve Syndrome
Hypoplastic left heart, Renal hypoplasia, Renal agenesis, Cleft upper lip, Hand polydactyly, Clef... OMIM:236110
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Elbow dislocation, Abnormality of the spleen, Esophagitis, Anophtha... ORPHA:2538
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Renal hypoplasia, Broad nasal tip, Clinodactyly, Long philtr... OMIM:615583
Biemond Syndrome Type 2
Preaxial polydactyly, Coloboma, Hydrocephalus, Microphthalmia ORPHA:141333
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Double Outlet Right Ventricle
Hypoplastic left heart, Depressed nasal bridge, Aplasia/Hypoplasia of the thymus, Intestinal malr... ORPHA:3426
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Neural tube defect OMIM:615041
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, 3-4 finger syndactyly... ORPHA:2437
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Atrial septal defect, Microphthalmi... ORPHA:261272
Chromosome 22Q11.2 Deletion Syndrome, Distal
Underdeveloped nasal alae, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft p... OMIM:611867
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Arachnodactyly, Retinal detachment, Lens subluxati... ORPHA:171844
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Anophthalmia, Ventricular septal defect, Microph... OMIM:615524
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Hand polydactyly, Coarctation of ... ORPHA:261243
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Bulbous nose, Hypoplastic... OMIM:620511
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Anomalous o... ORPHA:2326
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Foot oligodactyly, Portal hypertension, Splenomegaly, Truncus... OMIM:616589
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defect, Hypospadia... OMIM:618316
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Brachydactyly, Microphthalmia OMIM:233270
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615990
Acrocardiofacial Syndrome
Wide nasal bridge, Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, T... ORPHA:2008
Mmep Syndrome
Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Micropht... ORPHA:3434
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Tessier cleft, Broad nasal tip, Cleft upper lip, Abnormal heart morphology, Nar... OMIM:239800
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
Mosaic Trisomy 9
Elbow dislocation, Endocardial fibroelastosis, Ventricular septal defect, Talipes equinovarus, At... ORPHA:99776
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Ventricular septal defect, Micropenis, Atrial septal defect, Dextrocar... OMIM:618280
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Depressed nasal bridge, Preaxial polydactyly, Overlapping fingers, Ove... OMIM:618142
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, I... OMIM:206920
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Skraban-Deardorff Syndrome
Depressed nasal bridge, Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, Antev... OMIM:617616
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Thick lower lip vermilion, Tetralogy of Fallot, Anteve... OMIM:612946
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Atrial septal defect, Single ventricle, Hypoplastic sple... OMIM:601186
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Anophthalmia Plus Syndrome
Tessier cleft, Deviation of finger, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midli... ORPHA:1104
Orofaciodigital Syndrome Xviii
Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum,... OMIM:617927
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Vacterl/Vater Association
Hypospadias, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the u... ORPHA:887
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Abnormality of the dentition, Conical tooth, Small hand, Overlapping fingers, Soli... ORPHA:952
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Frontonasal Dysplasia 1
Wide nasal bridge, Bifid nasal tip, Joint contracture of the hand, Broad nasal tip, Clinodactyly,... OMIM:136760
Methimazole Embryofetopathy
Choanal atresia, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Tra... ORPHA:1923
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Thoracic aortic... OMIM:619657
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Ventricular ... OMIM:146510
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Cleft upper lip, Renal hypoplasia/aplasia, ... ORPHA:3316
Oculomaxillofacial Dysostosis
Wide nasal bridge, Abnormality of the dentition, Tessier cleft, Abnormality of the nose, Underdev... ORPHA:1794
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb, Optic disc hypoplasia, Renal agenesis, Abnormal lung loba... OMIM:300514
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Bilateral single ... ORPHA:3033
Biemond Syndrome Ii
Iris coloboma, Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Long philtrum, Narrow mouth, Exaggerate... ORPHA:261120
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Schisis Association
Renal agenesis, Unilateral cleft lip, Micromelia, Encephalocele, Tracheoesophageal fistula, Spina... ORPHA:63862
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... OMIM:615415
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Wide nasal bridge, Delayed eruption of teeth, Tooth agenesis, Camptodactyly... ORPHA:2863
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Gastroesophageal reflux, Broad thumb, Sandal gap, Cleft upper lip, Broad hallux... OMIM:600987
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Abnormal lung lobation, Camptodactyly of finger... ORPHA:2631
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Pulmonary situs ambiguus, Clubbing, Abnormal heart morphology, Asplenia, ... ORPHA:244
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Nevus Comedonicus Syndrome
Cataract, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occ... ORPHA:64754
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Short thumb, Cleft upper... OMIM:612561
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate... OMIM:601357
Feingold Syndrome 1
Ventricular septal defect, Everted lower lip vermilion, High palate, Patent ductus arteriosus, Du... OMIM:164280
Orofaciodigital Syndrome Xvii
High, narrow palate, Renal hypoplasia, Clinodactyly, Tetralogy of Fallot, Prominent nose, Short m... OMIM:617926
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Tetralogy of Fallot, Abnormal mitral valve m... ORPHA:1919
Mycophenolate Mofetil Embryopathy
Tessier cleft, Tracheomalacia, Ventricular septal defect, Orofacial cleft, Tracheoesophageal fist... ORPHA:268249
Anencephaly 2
Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence... OMIM:619452
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ... OMIM:265380
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Bilateral microphthalmo... OMIM:607597
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... ORPHA:210122
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Chronic rhinitis, Dextrocardia, Bronchiectasis OMIM:617577
Congenital Tracheomalacia
Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc... ORPHA:95430
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Tetralogy of Fallot, Single transverse palmar crease, Thin upper lip vermilion,... ORPHA:3304
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Long p... ORPHA:3378
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Depressed nasal bridge, Broad nasal tip, Ventricular septal defect, Thin upper lip vermilion, Ove... OMIM:601927
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max... ORPHA:66625
Fryns Syndrome
Multicystic kidney dysplasia, Microphthalmia, Anal atresia, High palate, Hypospadias, Non-midline... ORPHA:2059
Fetal Trimethadione Syndrome
Depressed nasal bridge, Tetralogy of Fallot, Bilateral single transverse palmar creases, Ventricu... ORPHA:1913
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Hydroceph... ORPHA:77298
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Esophageal Atresia
Clinodactyly, Esophagitis, Abnormal gastrointestinal tract morphology, Ventricular septal defect,... ORPHA:1199
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Intestinal malrotation, Mitral valve prolapse, Arachnodactyly, Aortic an... ORPHA:115
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnodactyly, Hepatic... ORPHA:1692
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Microphthalmia, Pat... ORPHA:2712
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Abnormal lower lip morphology,... ORPHA:1166
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Depressed nasal bridge, Downturned c... OMIM:179613
Floating-Harbor Syndrome
Carious teeth, Broad thumb, Atrial septal defect, Broad fingertip, Celiac disease, Dislocated rad... OMIM:136140
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Emanuel Syndrome
Aortic valve stenosis, Delayed eruption of primary teeth, Ventricular septal defect, Atrial septa... OMIM:609029
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, R... OMIM:611561
Microphthalmia/Coloboma 5
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ankyloglossia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Bowing of... ORPHA:261330
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Coloboma, Hydrocephalus, Ocular anterior segment dysgenesis, Development... ORPHA:324416
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Congenital Tracheal Stenosis
Abnormality of the ureter, Anomalous origin of left pulmonary artery from ascending aorta, Abnorm... ORPHA:141127
Floating-Harbor Syndrome
Carious teeth, Dilatation of the renal pelvis, Clinodactyly, Atrial septal defect, Broad fingerti... ORPHA:2044
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal de... ORPHA:477817
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... OMIM:618845
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Abnormal hand morphology, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic v... ORPHA:228190
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Right aortic arch, Situs inversus tot... OMIM:620642
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... OMIM:311895
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Renal agenesis, Renal dysplasia, Tetralogy of Fallot, Abnormal ... ORPHA:1335
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Thin upper lip vermilion,... OMIM:277380
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Depressed nasal bridge, Tetralogy of Fallot, Ventr... OMIM:220210
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Ventricula... OMIM:201000
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap... OMIM:618889
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va... OMIM:604381
Trisomy 1Q
Depressed nasal bridge, Multicystic kidney dysplasia, Toe syndactyly, Preaxial hand polydactyly, ... ORPHA:261344
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Long philtrum, Moy... OMIM:300845
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Ventricular septal defect, Atrial septal defect, Anal a... ORPHA:96170
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Right aortic arch, Renal insuffici... OMIM:617478
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Ventricular septal defect, P... OMIM:613759
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Dextrotransposition of the great arte... OMIM:619995
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Apl... ORPHA:84
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Small thenar eminence, Atrial septal defe... OMIM:607323
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Kapur-Toriello Syndrome
Joint contracture of the hand, Abnormality of the urinary system, Short thumb, Cleft upper lip, C... OMIM:244300
Opitz Gbbb Syndrome
Natal tooth, Aortic root aneurysm, Ankyloglossia, Ventricular septal defect, Atrial septal defect... ORPHA:2745
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Microphthalmia, Isolated 4
Postaxial polydactyly, Coloboma, Microphthalmia OMIM:613094
Maternal Phenylketonuria
Hypoplastic left heart, Wide nasal bridge, Clinodactyly, Long philtrum, Tetralogy of Fallot, Abno... ORPHA:2209
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Ventricular septal defect, Postaxial polydactyly, Atrial septal defect, V... OMIM:603387
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Non-midline clef... ORPHA:2919
Pallister-Hall-Like Syndrome
Hip dislocation, Microglossia, Occipital encephalocele, Toe syndactyly, Postaxial foot polydactyl... OMIM:241800
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Aminopterin/Methotrexate Embryofetopathy
Mesomelia, Wide nasal bridge, Finger syndactyly, Micromelia, Tetralogy of Fallot, Situs inversus ... ORPHA:1908
Lethal Congenital Contracture Syndrome 10
Long philtrum, Overlapping fingers, Femoral bowing, Ventricular septal defect, Cardiomegaly, Tali... OMIM:617022
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypop... OMIM:161200
Rhombencephalosynapsis
Finger syndactyly, Anteverted nares, Narrow mouth, Polydactyly, Aganglionic megacolon, Abnormal r... ORPHA:59315
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, Cleft upper lip, Median cleft palat... OMIM:264480
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Bowing of the long bones, Renal cyst, Atrial septal def... OMIM:611134
X-Linked Intellectual Disability, Siderius Type
Broad nasal tip, Cleft upper lip, Preaxial hand polydactyly, Orofacial cleft, Large hands ORPHA:85287
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Clinodactyly, Coloboma, Brachydactyly, Ocular anterior segment dysgenesis, Microp... OMIM:610023
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Fanconi Anemia, Complementation Group D2
Pancytopenia, Neutropenia, Absent radius, Duplicated collecting system, Microphthalmia, Leukemia,... OMIM:227646
Burn-Mckeown Syndrome
Bifid uvula, Unilateral renal agenesis, Renal hypoplasia, Choanal atresia, Bilateral choanal atre... OMIM:608572
Axial Mesodermal Dysplasia Spectrum
Abnormal localization of kidney, Abnormal pelvic girdle bone morphology, Gastroesophageal reflux,... ORPHA:1834
You-Hoover-Fong Syndrome
Vascular ring, Clinodactyly, Coarctation of aorta, Brachydactyly, Double aortic arch, Cleft palat... OMIM:616954
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Finger syndactyly, Tooth ... ORPHA:1786
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, Complete atrioventricular canal ... OMIM:217085
Seckel Syndrome 9
Pulmonary artery hypoplasia, Recurrent urinary tract infections, Ventricular septal defect, Talip... OMIM:616777
Bardet-Biedl Syndrome 11
Retinopathy, Polydactyly OMIM:615988
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Open mouth, Irregular dentition, Encephalocele, Talipes equinovarus, Small thena... OMIM:619148
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Abnorma... ORPHA:2257
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Horseshoe kidney, Scimitar anomaly... OMIM:608978
Thakker-Donnai Syndrome
Downturned corners of mouth, Tetralogy of Fallot, Bulbous nose, Anteverted nares, Narrow mouth, V... ORPHA:1780
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Bardet-Biedl Syndrome 5
Polydactyly, Brachydactyly, Macular dystrophy, Rod-cone dystrophy, Syndactyly OMIM:615983
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Prominent nose, Truncus arteriosus, 2-3 toe syndactyly, Ventricular se... OMIM:617516
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot, Short nose OMIM:300577
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Dysphagia, Hip dislocation, Ventricular septal defect OMIM:619083
Vater/Vacterl Association
Ventricular septal defect, Radioulnar synostosis, Absent radius, Abnormal nasopharynx morphology,... OMIM:192350
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cleft palate, Cleft upper lip, Microphthalmia OMIM:120433
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Sandal gap, Short toe, Short 5th metacarpal, Anteverted nares, Spina bifida occulta, Perimembrano... OMIM:617877
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Overlapping fingers, Absent uvula, Talipes equinovarus, Fem... OMIM:616531
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Wide nasal bridge, Broad thumb, Proximal placement of thumb, Tetralogy of... ORPHA:251071
Recombinant 8 Syndrome
Abnormality of the dentition, Depressed nasal bridge, Downturned corners of mouth, Cleft upper li... ORPHA:96167
Intellectual Disability, Wolff Type
Wide nasal bridge, Short distal phalanx of finger, Broad thumb, Thick lower lip vermilion, Campto... ORPHA:3080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Optic atrophy, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Retinal at... OMIM:253280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Foot polydactyly, Renal hypoplasia/aplasia, Median cleft upper lip, Aplasia/... ORPHA:3186
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate, Microphthalmia OMIM:613456
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Trident pelvis, Ventricular septal defect, Bowing of t... OMIM:614815
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Ventricular septal defect, Micropenis, Patent ductus arteriosus, Short... OMIM:616894
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Optic nerve hypoplasia, Aortic r... OMIM:620025
Keutel Syndrome
Wide nasal bridge, Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Pulmonar... OMIM:245150
Ring Chromosome 8 Syndrome
Deviation of finger, Abnormality of the ureter, Anteverted nares, Hydronephrosis, Short nose ORPHA:1450
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Microphthalmia, Anal atresia, Flat acetabular roof, Patent ductus arter... OMIM:616300
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Micromelia, Anophthalmia, Submucous cleft hard... ORPHA:2189
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Absent gallbladder, Microphthalmia, Anal atresia, Cleft lip, Hamartoma ... OMIM:617925
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Cleft upper lip, Irregular dentition, Cleft lower lip, Median cleft upper lip, Fusion o... ORPHA:401942
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal cardiac septum mor... ORPHA:1200
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Depressed nasal ridge, Aplasia/Hypoplasia of the... ORPHA:1727
Frontofacionasal Dysplasia
Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, D... ORPHA:1791
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Bifid nasal tip, Broad nasal tip, Short tibia, Polydactyly, Media... OMIM:300484
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Acces Syndrome
Ectrodactyly, Horseshoe kidney, Tracheoesophageal fistula, Hip dysplasia, Clinodactyly of the 5th... OMIM:619959
Joubert Syndrome 16
Coloboma, Encephalocele, Retinal dystrophy, Polydactyly OMIM:614465
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverted nares, High palate, Clinodac... ORPHA:217340
Apert Syndrome
Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta... OMIM:101200
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair OMIM:606574
Renpenning Syndrome
High, narrow palate, Broad columella, Macrodontia, Prominent nose, Narrow mouth, Abnormal thumb m... ORPHA:3242
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Narrow mouth, Mitral valve prolapse, Ventricular septal defe... OMIM:180849
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Renal dysplasia, Accessory oral frenu... OMIM:277170
Intellectual Developmental Disorder, Autosomal Dominant 66
Toe clinodactyly, Secundum atrial septal defect, Aortic root aneurysm, Arachnodactyly, Cerebral c... OMIM:619910
Femoral-Facial Syndrome
Toe syndactyly, Humeroradial synostosis, Limited elbow movement, Ventricular septal defect, Talip... OMIM:134780
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Atrioventricular canal defect, Distal urethral duplication, Vesicouret... ORPHA:2549
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Polydactyly OMIM:615991
Split hand/foot malformation 1 (SHFM1)
Abnormality of the urinary system, Toe syndactyly, Cutaneous finger syndactyly, Split foot, Media... DECIPHER:46
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Abnormal c... ORPHA:2370
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... OMIM:614091
Thoracoabdominal Syndrome
Renal agenesis, Cleft upper lip, Anencephaly, Transposition of the great arteries, Hydrocephalus,... OMIM:313850
Lissencephaly Syndrome, Norman-Roberts Type
Wide nasal bridge, Patent foramen ovale, Atrial septal defect, Adducted thumb, Hypoplastic spleen... ORPHA:89844
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Abnormality of... ORPHA:991
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Ventricular septal ... OMIM:612530
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Abnormal lung lobation... ORPHA:958
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Ventricular septal defect, 2-3 finger syndactyly, Atrial septal def... ORPHA:435638
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Abnormal lung lobation, Talipes equinovarus, Hand polydactyly, Ec... OMIM:217100
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Type B brachydactyly, Absent distal phalanges, Bifid distal ph... OMIM:120400
Cerebrooculofacioskeletal Syndrome 3
Edema, Intrauterine growth retardation, Talipes equinovarus, Microphthalmia, Rocker bottom foot, ... OMIM:616570
Microphthalmia/Coloboma 4
Microcornea, Coloboma, Microphthalmia OMIM:251505
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Pr... ORPHA:380
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Open mouth, Long thumb, Ventricular septal defect, Everted lower lip vermilion, Atrial septal def... OMIM:220500
Charge Syndrome
Lymphopenia, Unilateral microphthalmos, Anophthalmia, Ventricular septal defect, Overriding aorta... OMIM:214800
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Recurrent respiratory infections, Hamartoma ... OMIM:174300
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Axenfeld anomaly, Optic nerve misrouting, Hypoplasia of th... OMIM:609218
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Tracheal stenosis, Tracheoesophageal fi... ORPHA:93941
Dextrocardia
Congenital hip dislocation, Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypop... ORPHA:1666
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of... ORPHA:1110
Tetralogy Of Fallot
Tetralogy of Fallot, Abnormal nasal morphology, Brachydactyly, Thin vermilion border, Clinodactyl... ORPHA:3303
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... ORPHA:1106
Van Esch-O'Driscoll Syndrome
Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Ventricular septal defect, Pulm... OMIM:301030
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly,... OMIM:615996
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Renal cyst, Microph... OMIM:603194
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Wide nasal bridge, Long philtrum, Cleft upper lip, Anteverted nares, Thin ... OMIM:243310
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarcta... OMIM:600460
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Genu valgum, Aplasia/Hypoplasia of the lens ORPHA:1381
Marden-Walker Syndrome
High, narrow palate, Pyloric stenosis, Renal hypoplasia, Joint contracture of the hand, Long phil... OMIM:248700
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Abnormal optic disc mo... ORPHA:65
Ververi-Brady Syndrome
Broad nasal tip, Bulbous nose, Prominent nose, Transposition of the great arteries, Clinodactyly ... OMIM:617982
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Ventricular septal defect, Bicuspid aortic valve, Broad phalanx, Mi... ORPHA:508498
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy, Iris cyst OMIM:620086
Coffin-Siris Syndrome 4
Everted upper lip vermilion, Ventricular septal defect, Atrial septal defect, Patent ductus arter... OMIM:614609
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Anorectal anomaly, Gingival overgrowth, Abnormality of the bladder, Hematuria, T... ORPHA:1839
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Aplasia of the bladder, Hor... OMIM:612284
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Ventricular septal d... ORPHA:2473
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Jawad Syndrome
Prominent nose, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal ... OMIM:251255
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Mosaic Trisomy 16
Short forearm, Clinodactyly, Large placenta, Ventricular septal defect, Single coronary artery or... ORPHA:1708
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
8Q24.3 Microdeletion Syndrome
Ventricular septal defect, Short hallux, Abnormality of the kidney, Dysplastic aortic valve, Clef... ORPHA:508488
Weiss-Kruszka Syndrome
Abnormal heart morphology, Single transverse palmar crease, Exaggerated cupid's bow, Prominent na... ORPHA:502430
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Atri... ORPHA:567
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Clinodactyly, Bulbous nose, Patent foramen ovale, Talipes equinovarus, Tr... OMIM:616789
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Humero-Radial Synostosis
Elbow dislocation, Chorioretinal coloboma, Abnormality of the wrist, Aplasia/Hypoplasia of the th... ORPHA:3265
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Genu valgum, Narrow mouth, Ventricular septal defect, Talipes ... OMIM:616145
Tetralogy Of Fallot
Tetralogy of Fallot, Clinodactyly of the 5th finger OMIM:187500
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Ventricular septal defect, Talipes equin... ORPHA:2970
Autosomal Recessive Amelia
Acromelia of the lower limbs, Orofacial cleft, Aplasia/Hypoplasia of the lungs, Abnormal cardiac ... ORPHA:1027
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Short distal phalanx of finger, Abnormally large globe, Broad nasal tip, Downt... OMIM:239300
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Microphthalmia, Cleft palate OMIM:164180
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Choanal atresia, Renal agenesis, Muscular ventricular septal defect, S... OMIM:619227
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Tessier cleft, Finger clinodactyly, Camptodactyly of finger, Tetralogy of Fall... ORPHA:306542
Microphthalmia, Syndromic 8
Cleft upper lip, Split foot, Orofacial cleft, Microphthalmia, Widely-spaced maxillary central inc... OMIM:601349
Bardet-Biedl Syndrome 10
Polydactyly, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Adams-Oliver Syndrome
Short distal phalanx of finger, Gastrointestinal hemorrhage, Arteriovenous malformation, Finger s... ORPHA:974
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Overlapping fingers, Open mouth, Ventricular septal defect, Atrial septal defect... OMIM:618494
Distal Deletion 15Q
Small hand, Multicystic kidney dysplasia, Genu valgum, Talipes equinovarus, Bicuspid aortic valve... ORPHA:1596
Phaver Syndrome
Depressed nasal bridge, Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of fin... ORPHA:2876
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Ventricular septal defect, Hy... ORPHA:1926
Pierre Robin Syndrome
Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Fibular Hemimelia
Toe syndactyly, Short tibia, Finger syndactyly, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Tetrasomy 15Q26
Horseshoe kidney, Hypoplastic aortic arch, Arachnodactyly, Hydronephrosis, Atrial septal defect, ... OMIM:614846
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Talipes equ... OMIM:619859
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Cleft palate, Pierre-Robin sequence OMIM:172880
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... OMIM:615382
Treacher-Collins Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of penis, Choanal atresia, Rectovagin... ORPHA:861
Infantile Myofibromatosis
Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula, Abnormality of ... ORPHA:2591
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Gastroesophageal reflux, Dilatation of the renal pelvis, Volvulus... OMIM:301111
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Micropenis, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Cone... OMIM:613091
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Gastr... ORPHA:2306
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Camptodactyly of finger, Duodenal stenosis, Short nose, Abnormality of the upper uri... ORPHA:2547
Bardet-Biedl Syndrome 9
Cataract, Postaxial foot polydactyly, Attenuation of retinal blood vessels, Astigmatism, Retinal ... OMIM:615986
Weyers Ulnar Ray/Oligodactyly Syndrome
Mesomelia, Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solit... OMIM:602418
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Ventricular septal defect, Talipes equinovarus, ... OMIM:301056
Vacterl With Hydrocephalus
Renal agenesis, Anophthalmia, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Esophageal atr... ORPHA:3412
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly... ORPHA:2091
Fadd-Related Immunodeficiency
Hepatic fibrosis, Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal defect OMIM:235750
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Sandal gap, Long philtrum, Ventricular septal defect, Thin upper lip vermil... OMIM:616652
Alg3-Cdg
Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormality of the gastrointestinal tract, Abnormal... ORPHA:79321
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Anteverted nares, Single transverse palmar crease, Ven... OMIM:618619
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of s... OMIM:251270
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular sept... OMIM:107480
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Linear Skin Defects With Multiple Congenital Anomalies 1
Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventricular septal defect, ... OMIM:309801
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Ventricular septal defect, Bicusp... ORPHA:353281
Charge Syndrome
Abnormal tibia morphology, Narrow mouth, Anophthalmia, Microphthalmia, Dysphagia, Patent ductus a... ORPHA:138
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Anal stenosis, Peripheral pulmonary artery stenosis, Broad nasal tip, Broad ha... OMIM:614749
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis,... ORPHA:139466
Zaki Syndrome
Wide nasal bridge, Broad distal phalanx of finger, Toe syndactyly, Renal agenesis, Ectrodactyly, ... OMIM:619648
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Fraser Syndrome 1
Cutaneous finger syndactyly, Anophthalmia, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the th... OMIM:219000
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Cleft ala nasi, Convex nasal ridge, Non-midline cle... ORPHA:2007
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Bulbous nose, Patent foramen ovale, Ventricular septal defect, Clinodac... OMIM:620113
20Q13.33 Microdeletion Syndrome
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Bulbous no... ORPHA:261311
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Tracheomalacia, Aglossia, Narrow mouth, Situs invers... OMIM:202650
Heart And Brain Malformation Syndrome
High, narrow palate, Hand clenching, Interrupted aortic arch, Cleft lip, Gastroesophageal reflux,... OMIM:616920
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia ORPHA:3032
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Abnormal mitral valve morphology, Ventricular septal de... ORPHA:7
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Chromosome 6Pter-P24 Deletion Syndrome
Depressed nasal bridge, Dental crowding, Cleft upper lip, Tetralogy of Fallot, Abnormal dental mo... OMIM:612582
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Broad nasal tip, Renal agenesis, Finger clinodactyly, Prea... ORPHA:2754
Feingold Syndrome Type 1
Toe syndactyly, Multiple muscular ventricular septal defects, Abnormality of the kidney, Anal atr... ORPHA:391641
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Ventricular septal defect, Atrial septal de... OMIM:600001
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Narro... OMIM:200990
Hyperlysinemia
Depressed nasal ridge, Pulmonary artery hypoplasia, Gastroesophageal reflux, Recurrent pneumonia,... ORPHA:2203
Braddock-Carey Syndrome 1
Wide nasal bridge, Small hand, Multicystic kidney dysplasia, Clinodactyly, Anteriorly placed anus... OMIM:619980
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Juberg-Hayward Syndrome
Anteriorly placed anus, Cleft upper lip, Horseshoe kidney, Limited elbow extension, Aplasia/Hypop... OMIM:216100
8P23.1 Duplication Syndrome
Toe syndactyly, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Th... ORPHA:251076
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Long philtrum, Tetralogy of Fallot, Atrial septal defect, Mi... OMIM:300887
Tonne-Kalscheuer Syndrome
Broad thumb, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Abno... OMIM:300978
Penile Agenesis
Ventricular septal defect, Urethral atresia, male, Urethral fistula, Atrial septal defect, Bilate... ORPHA:49
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Bardet-Biedl Syndrome 16
Bronchiolitis, Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly, ... OMIM:615993
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormality of the pul... ORPHA:1354
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Ventricular septal... OMIM:613870
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Median cleft palate, Microphthalmia ORPHA:2432
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Narrow mouth, Ventricular septal defect, Atrial septal defect,... ORPHA:3469
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Depressed nasal bridge, Radial deviation of the hand, Short tibia, Shor... ORPHA:2756
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Wide nasal bridge, Broad thumb, Toe syndactyly, Long philtrum, Ankyloglo... ORPHA:250989
Koolen-De Vries Syndrome
Aortic root aneurysm, Open mouth, Pear-shaped nose, Narrow palm, Ventricular septal defect, Bicus... OMIM:610443
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Bicuspid aortic valve, Atrial septal defect, Microphthalmia, High p... OMIM:612474
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Talipes equinovarus, Absent radius, Microphthalmia,... OMIM:263650
Holoprosencephaly
Abnormality of the spleen, Anophthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lun... ORPHA:2162
Mirage Syndrome
Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Radial club hand, Recurrent urinary ... OMIM:617053
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Toe syndactyly, Overlapping toe, Ventricular septal defect, Talipes equino... OMIM:601808
Split-Hand/Foot Malformation 1
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala... OMIM:183600
Distal Triplication 15Q
Dilatation of the renal pelvis, Abnormal heart morphology, Horseshoe kidney, Hypoplastic aortic a... ORPHA:314588
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Fractured radius, Short femur, Unilateral cleft lip, Flared metaphysis, Hypertrophic cardiomyopat... OMIM:616897
Chromosome 1P36 Deletion Syndrome, Proximal
Bifid nasal tip, Cleft lip, Dilated cardiomyopathy, Clinodactyly, Coronary artery fistula, Bivent... OMIM:619343
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Anophthalmia, Mitral valve prolapse, Contracture of the pr... OMIM:300166
Zechi-Ceide Syndrome
Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Cleft upper lip, Underdeveloped na... OMIM:612916
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Short foot, Holoprosencephaly, Pate... OMIM:269860
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Ventricular septal defect, Bicusp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Ventricular septal defect, Bicusp... ORPHA:353277
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Atrial septal defect, Hyp... OMIM:175700
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Abnormal lung lobation, Atrioventricular canal defec... ORPHA:1120
Renal Agenesis, Bilateral
Renal agenesis, Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Non-midlin... ORPHA:1848
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Clinodactyly, Abnormality of the ureter, Bowing of the l... OMIM:249000
Keratoconus Posticus Circumscriptus
Cleft upper lip, Recurrent urinary tract infections, Vesicoureteral reflux, Limited elbow extensi... OMIM:244600
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Ventricular septal defect, Arachnodactyly, Atrial septal def... OMIM:617602
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Distal Duplication 14Q
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology, Abn... ORPHA:1705
Sprengel Deformity
Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Cleft palate, Shoul... ORPHA:3181
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Talipes eq... OMIM:256050
Laurin-Sandrow Syndrome
Depressed nasal ridge, Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand... ORPHA:2378
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Radioulnar synostosis, Short nose, Syndactyly, Gastroesophageal ref... OMIM:614701
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Acute megakar... OMIM:190685
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Depressed nasal bridge, Renal hypoplasia, Long philtrum, Anteverted nares, Ventricular septal def... ORPHA:75389
Absence Of The Pulmonary Artery
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Tetralogy of Fallot, Ab... ORPHA:980
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o... ORPHA:33445
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Peripheral pulmonary artery stenosis, Short thumb, Underdeveloped nasal alae... ORPHA:436003
Fanconi Anemia, Complementation Group L
Wide nasal bridge, Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Abse... OMIM:614083
Thanatophoric Dysplasia
Abnormal ilium morphology, Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Atria... ORPHA:2655
Bardet-Biedl Syndrome 17
Anosmia, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Stage 5 chronic kidney disease, ... OMIM:615994
Acromelic Frontonasal Dysostosis
Wide nasal bridge, Bifid nasal tip, Optic nerve hypoplasia, Dilation of Virchow-Robin spaces, Sho... OMIM:603671
Trisomy 17P
Aortic valve stenosis, Narrow mouth, High palate, Polycystic kidney dysplasia, Patent ductus arte... ORPHA:261290
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Ectopia pupillae, Cone/cone-rod dystrophy, Bowing of the long bones, Microphthal... ORPHA:85167
Temtamy Syndrome
Short toe, Thick lower lip vermilion, Abnormal palate morphology, Aortic aneurysm, Brachydactyly,... ORPHA:1777
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, ... OMIM:615982
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, High palate, Polycystic kidney dysplasi... OMIM:311200
Diprosopus
Anencephaly, Abnormality of retinal pigmentation ORPHA:1681
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Abnormal retinal morphology, Preaxial polydactyly OMIM:614615
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Cleft palate, Short nose ORPHA:2015
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Ventricular septal defect, Polydactyly, Smooth philtrum, Hydrocephalus, Microphth... OMIM:602501
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal hip bone morphology, Prominent nasal bridge, Abnormal palate morphology, Tracheoesophage... ORPHA:3068
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis, Brachydactyly OMIM:614819
Kniest Dysplasia
Delayed epiphyseal ossification, Cataract, Enlarged metaphyses, Dumbbell-shaped femur, Vitreoreti... ORPHA:485
Acromicric Dysplasia