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
facial cleft Tbc1d32em1(IMPC)J HOM E18.5 0.00
polydactyly Tbc1d32em1(IMPC)J HOM E18.5 0.00
cleft palate Tbc1d32em1(IMPC)J HOM E18.5 0.00
edema Tbc1d32em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Tbc1d32em1(IMPC)J HOM   Early adult 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
anophthalmia Tbc1d32em1(IMPC)J HOM E18.5 0.00
abnormal embryo size Tbc1d32em1(IMPC)J HOM E18.5 0.00
hemorrhage Tbc1d32em1(IMPC)J HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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.

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Gross Morphology Embryo E18.5

Images

4 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Auditory Brain Stem Response

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

7 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
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Bulbous nose, Coarctation of aorta, Broad hallux, Broad thumb, Patent duct... OMIM:612474
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Brachydactyly, Long philtru... ORPHA:401935
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... OMIM:605376
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Heterotaxy, Atrioventricular canal defe... OMIM:616749
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Cleft palate, Hypospadias, Ventricular septal def... OMIM:231060
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Unilateral renal agenesis, Ventricular septal defect, Hydranencep... OMIM:601355
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... OMIM:217095
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short h... OMIM:314390
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Renal hypoplasia/aplasia, High, narrow palate, Cleft palate, Rena... ORPHA:2516
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Congenital... OMIM:306955
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Bilateral cleft lip and palate, Facial cleft, Microphthalmia OMIM:600776
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus, Microphthalmia, Coloboma ORPHA:141333
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Microphth... ORPHA:2538
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:270100
Holzgreve Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal agenesis, Renal hypoplasia, Hand pol... OMIM:236110
Thymic Aplasia With Fetal Death
Renal agenesis, Pulmonary hypoplasia, Truncus arteriosus, Ureteral agenesis OMIM:274210
Short Rib-Polydactyly Syndrome
Cleft palate, Nephronophthisis, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Hepati... ORPHA:1505
17Q12 Microduplication Syndrome
Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Microphthalmia, Finger syndactyly,... ORPHA:261272
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Arachnodactyly, Retinal detac... ORPHA:171844
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Metaphyseal dysplasia, Lens subluxation, Retinal detachment, Irregular epiphys... OMIM:157151
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Hydrocephalus, Ectrodactyly, Congenital megaureter, Split foot, Tr... ORPHA:2437
Double Outlet Right Ventricle
Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft palate, Heterotaxy, Pu... ORPHA:3426
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Meckel Syndrome, Type 8
Cleft upper lip, Talipes equinovarus, Cleft palate, Hyperechogenic kidneys, Anophthalmia, Polydac... OMIM:613885
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger, Abnormal heart morphology OMIM:233270
16P13.11 Microduplication Syndrome
Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot, Ventricular sept... ORPHA:261243
Chromosome 22Q11.2 Deletion Syndrome, Distal
Cleft palate, Truncus arteriosus, Thin upper lip vermilion, Underdeveloped nasal alae, Smooth phi... OMIM:611867
Catel-Manzke Syndrome
High palate, Cleft upper lip, Clinodactyly of the 5th finger, Talipes equinovarus, Hyperphalangy ... OMIM:616145
Adams-Oliver Syndrome 6
Splenomegaly, Brachydactyly, Syndactyly, Ventricular septal defect, Renal hypoplasia, Hepatic fib... OMIM:616589
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Polydactyly, Rod-c... OMIM:615990
Mmep Syndrome
Split foot, Oral cleft, Ventricular septal defect, Triphalangeal thumb, Median cleft lip, Microph... ORPHA:3434
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Micropenis, Renal agenesis, Pulmonary artery hypopla... ORPHA:2326
Mosaic Trisomy 9
High palate, Bulbous nose, Cleft palate, Abnormal liver lobulation, Finger clinodactyly, Micromel... ORPHA:99776
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Depressed nasal bridge, Cut... OMIM:618316
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma OMIM:613703
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Broad nas... OMIM:239800
Acrocardiofacial Syndrome
Mitral stenosis, Anal atresia, Cleft upper lip, Atrial septal defect, Finger syndactyly, Cleft pa... ORPHA:2008
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Renal-Hepatic-Pancreatic Dysplasia 2
Talipes equinovarus, Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Femoral bowing, Cyst... OMIM:615415
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:601186
Facial Clefting, Oblique, 1
Cleft upper lip, Deep palmar crease, Facial cleft, Cleft palate OMIM:600251
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Micropenis, Micromelia, Renal dysplasia, Postaxial hand polydactyly,... OMIM:241800
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... ORPHA:3384
Hadziselimovic Syndrome
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... OMIM:612946
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Syndactyly, Ventricular septal defect, Hypoplasia of the ulna, Renal cyst, Renal hypoplasia, Meso... OMIM:228940
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Atrial septal defect, Postaxial polydactyly, Bilateral talipes equi... OMIM:618142
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... OMIM:617927
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus, Iris coloboma OMIM:210350
Vacterl/Vater Association
Anal atresia, Abnormal cardiac septum morphology, Hypoplasia of penis, Cleft palate, Finger synda... ORPHA:887
Anophthalmia Plus Syndrome
Cleft palate, Anophthalmia, Deviation of finger, Bilateral cleft lip and palate, Facial cleft, No... ORPHA:1104
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Methimazole Embryofetopathy
Tracheoesophageal fistula, Hypospadias, Coarctation of aorta, Ventricular septal defect, Choanal ... ORPHA:1923
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Tracheomalacia,... OMIM:618280
Acrofacial Dysostosis, Weyers Type
Clinodactyly of the 5th finger, Hypodontia, Small hand, Abnormality of the dentition, Overlapping... ORPHA:952
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Tooth agenesis, Renal hypoplasia/aplasia, Midshaft hypospadias, Campto... ORPHA:2863
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Schisis Association
Anal atresia, Cleft palate, Renal agenesis, Tracheoesophageal fistula, Anencephaly, Micromelia, U... ORPHA:63862
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Cleft palate, Adducted thumb, Abnormality of the dentition,... ORPHA:1794
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Depressed nasal bridge,... ORPHA:261120
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Fanconi Anemia, Complementation Group B
Duodenal atresia, Absent thumb, Micropenis, Renal agenesis, Tracheoesophageal fistula, Aplastic a... OMIM:300514
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Hypospadias, Brachydactyly, Tetralogy of Fallot, Abnormal nasal... ORPHA:1919
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Chronic rhinitis, Bronchiectasis, Right aortic arch OMIM:617577
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Bilateral single ... ORPHA:3033
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Thomas Syndrome
Cleft upper lip, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate, Multicystic kidn... ORPHA:3316
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... OMIM:612109
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Abnormal hip bone morphology, Thin vermilion border, Camptodactyly of finger, Abnor... ORPHA:2631
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Cataract, Spina bifida, Finger syndactyly, Toe syndac... ORPHA:64754
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Optic n... OMIM:607597
Emanuel Syndrome
High palate, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft palate, Gastroesoph... OMIM:609029
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Tracheoesophageal fistula, An... ORPHA:77298
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Tracheoesophageal fistula, Coarctation of aorta, Bifid nose, Oral cleft, Ventricu... ORPHA:268249
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bifid nose, T... OMIM:136760
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Double outlet right ventricle, 2-3 toe syndactyly, Atrial septal defect, Overriding ... ORPHA:3304
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... ORPHA:210122
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Long philtrum, Microdontia, Anophthalmia, Postaxial ha... ORPHA:66625
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Trisomy 13
Ectrodactyly, Atrial septal defect, High, narrow palate, Cleft palate, Microphthalmia, Abnormalit... ORPHA:3378
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Cleft palate, Microphthalmia OMIM:221950
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Orofaciodigital Syndrome Xvii
High, narrow palate, Micropenis, Partial duplication of thumb phalanx, Short middle phalanx of th... OMIM:617926
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... ORPHA:83461
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Congenital Contractural Arachnodactyly
High palate, Duodenal atresia, Arachnodactyly, Tracheoesophageal fistula, Camptodactyly of finger... ORPHA:115
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Polysplenia, Peribronchovascular interstitial thickening, Abno... ORPHA:244
Microphthalmia, Syndromic 12
Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, Microphth... OMIM:615524
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Median cleft palate, Respiratory infections in early life OMIM:248110
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Pulmonary hypoplasia, ... ORPHA:2059
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Fetal Trimethadione Syndrome
Atrial septal defect, Hypospadias, Depressed nasal bridge, Bilateral single transverse palmar cre... ORPHA:1913
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Depressed nasal bridge, Ventricular septal defect, Thin up... OMIM:601927
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Coloboma, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalm... ORPHA:324416
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma ORPHA:2921
Anencephaly 2
Median cleft palate, Anophthalmia, Anencephaly, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Floating-Harbor Syndrome
Wide mouth, Short metacarpal, Broad nasal tip, Short philtrum, Long nose, Microdontia, Broad fing... ORPHA:2044
Congenital Tracheomalacia
Tracheoesophageal fistula, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Cardiomega... ORPHA:95430
Floating-Harbor Syndrome
Wide mouth, Cone-shaped epiphyses of the phalanges of the hand, Bulbous nose, Short 1st metacarpa... OMIM:136140
Persistent Placoid Maculopathy
Abnormal macular morphology, Choroidal neovascularization, Retinal pigment epithelial mottling, H... ORPHA:97341
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Absent thumb, Hypoplasia of the radius, Biliary tract abnormality, Hyp... OMIM:156810
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Gingival overgrowth, Clinodactyly of the 5th finger, Atrial septal... OMIM:179613
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Metap... OMIM:618889
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Short femur, Anterior encephalocele, Bilateral cleft lip and palate, Facial clef... OMIM:601357
Mosaic Trisomy 1
Wide mouth, Cleft palate, Depressed nasal bridge, 2-3 finger syndactyly, Finger clinodactyly, Sin... ORPHA:1692
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Cleft upper lip, Atrial septal defect, Cleft palate, Tracheoma... OMIM:612561
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Talipes equinovarus, Adducted thumb, Overlapping fingers, Long philtr... OMIM:617022
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Congenital Tracheal Stenosis
Abnormal tracheobronchial morphology, Anomalous origin of left pulmonary artery from ascending ao... ORPHA:141127
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... OMIM:614500
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... ORPHA:2712
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Renal cyst, Postaxial foo... OMIM:611561
Feingold Syndrome 1
Annular pancreas, High palate, Short toe, 2-3 toe syndactyly, Duodenal atresia, Everted lower lip... OMIM:164280
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Talipes equinovarus, Hypoplastic left heart... OMIM:618845
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Aplas... ORPHA:2476
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, 2-3 toe syndactyly, Short 2nd finger, Atrial septal defect, Secundum atrial sept... OMIM:600987
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Hypopla... OMIM:220210
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Abnormal h... ORPHA:228190
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Cleft palate, Abnormal pericardium morphology, Renal agenesi... ORPHA:1335
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Broad nasal tip, Long nose, Depressed nasal bridge, Dextrotransposition of the great arteries, Br... OMIM:619995
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Oral cleft, Bilateral microphthalmos, Microphthalmia OMIM:611638
Distal 22Q11.2 Microdeletion Syndrome
Cleft palate, Ulnar deviation of finger, Ventricular septal defect, Pyloric stenosis, Sandal gap,... ORPHA:261330
Esophageal Atresia
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Pyloric stenosis, Pulmonary h... ORPHA:1199
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate, Limb duplication, Hand polydactyly, Hip dislocation OMIM:223200
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Atrial septal defect, T... ORPHA:477817
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Renal hypoplasia/aplasia, Cleft palate, Abnormal hip bone morphology, Abnormality... ORPHA:1166
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... OMIM:186350
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Depressed nasal bridge, Single transverse palmar crease, Short nose, S... OMIM:206920
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Postaxial polydactyly, Abnormally large globe, Ventricular septal defect, V... OMIM:603387
Gonadal dysgenesis, xy type, with associated anomalies
Cleft upper lip, Abnormal heart morphology, Broad palm, Oral cleft OMIM:233430
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Clinodactyly of the 5th finger, Bicuspid aortic valve, Pseudocoarctation of the aorta,... OMIM:604381
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Overlapping toe, Atrial septal defect, Tetralogy of Fallot, Ventricular septal... OMIM:617478
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Ventricular septa... OMIM:201000
Maternal Phenylketonuria
Double outlet right ventricle, High palate, Hypoplastic left heart, Brachydactyly, Coarctation of... ORPHA:2209
Trisomy 1Q
Anal atresia, Narrow mouth, Cleft palate, Congenital megaureter, Arachnodactyly, Depressed nasal ... ORPHA:261344
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Underdeveloped nasal alae, Bulbous nose, Velopharyngeal ... OMIM:192430
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Sandal... OMIM:607323
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly, Coloboma OMIM:613094
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Fanconi Anemia
High palate, Abnormality of femur morphology, Arteriovenous malformation, Abnormal cardiac septum... ORPHA:84
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Aminopterin/Methotrexate Embryofetopathy
Cleft palate, Micromelia, Wide nasal bridge, Tetralogy of Fallot, Pulmonary artery atresia, Situs... ORPHA:1908
Emanuel Syndrome
High palate, Cleft palate, Congenital hip dislocation, Delayed eruption of teeth, Ventricular sep... ORPHA:96170
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Cleft palate, Edema, Rocker bottom foot, Intrauterine growth... OMIM:616570
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Clinodactyly of the 5th finger, Pulmonic stenosis, Spina bifida occulta, Short nose, S... OMIM:617877
Rhombencephalosynapsis
Anal atresia, Narrow mouth, Tracheoesophageal fistula, Polydactyly, Short phalanx of finger, Abno... ORPHA:59315
Opitz Gbbb Syndrome
High palate, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Aortic root aneu... ORPHA:2745
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Gingival overgrowth, Renal hypoplasia/aplasia, Hydrocephalus, Gastroesophageal refl... ORPHA:1834
Nail-Patella Syndrome
Microphakia, Clinodactyly of the 5th finger, Talipes equinovarus, Disproportionate prominence of ... OMIM:161200
Fanconi Anemia, Complementation Group D2
Absent thumb, Tracheoesophageal fistula, Horseshoe kidney, Complete duplication of thumb phalanx,... OMIM:227646
Thakker-Donnai Syndrome
Anal atresia, Narrow mouth, Bulbous nose, Tracheoesophageal fistula, Tetralogy of Fallot, Ventric... ORPHA:1780
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Long fing... OMIM:613458
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Microphthalmia, Cleft palate, Anencephaly, Ventricular septa... OMIM:611134
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... ORPHA:1686
Orofaciodigital Syndrome Type 5
High, narrow palate, Tetralogy of Fallot, Postaxial hand polydactyly, Non-midline cleft lip, Agen... ORPHA:2919
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Coloboma, Peters anomaly, Iris coloboma, Clinodactyly, Ocular anterior... OMIM:610023
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Kapur-Toriello Syndrome
Cleft upper lip, Bulbous nose, Atrial septal defect, Joint contracture of the hand, Cleft palate,... OMIM:244300
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Wide mouth, Aplasia/Hypoplasia affecting the eye, Distal urethral duplication, Rena... ORPHA:2549
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Short philtrum, Cutaneous syndactyly, Anencephaly, Delayed er... OMIM:619148
Johnson Neuroectodermal Syndrome
Cleft palate, Micropenis, Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Cho... OMIM:147770
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Bulbous nose, Clinodactyly of the 5th finger, Hypospadias, Campto... ORPHA:3080
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Bardet-Biedl Syndrome 11
Retinopathy, Polydactyly OMIM:615988
Frontonasal Dysplasia 3
Facial cleft, Cleft palate, Microphthalmia OMIM:613456
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Hydrolethalus
Hydrocephalus, Cleft palate, Tracheal atresia, Gingival cleft, Anencephaly, Bifid uvula, Arrhinen... ORPHA:2189
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Bulbous nose, Clinodactyly of the 5th finger, Hypoplastic lef... OMIM:301022
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Acrofacial Dysostosis, Catania Type
Tooth agenesis, Clinodactyly of the 5th finger, Finger syndactyly, Inguinal hernia, Small hand, A... ORPHA:1786
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Absent thumb, Micropenis, Hypospadias, Ureteral duplication, Truncus arterios... OMIM:617516
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Microphthal... OMIM:610256
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Renal hypoplasia/aplasia, Holoprosencephaly, Hypoplasia of the radius, Abnormality of the humerus... ORPHA:3186
Mental Retardation, X-Linked 91
Small hand, Short 5th finger, Short nose, Cubitus valgus, Short foot, Clinodactyly OMIM:300577
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia, Hip dislocation OMIM:619083
Pseudotrisomy 13 Syndrome
Cleft upper lip, Anal atresia, Hydrocephalus, Tricuspid atresia, Atrial septal defect, 2-3 toe sy... OMIM:264480
Bardet-Biedl Syndrome 5
Rod-cone dystrophy, Syndactyly, Brachydactyly, Polydactyly, Macular dystrophy OMIM:615983
Seckel Syndrome 9
Talipes equinovarus, Atrial septal defect, Convex nasal ridge, Recurrent urinary tract infections... OMIM:616777
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Hematuria, Cleft palate, Microphthalmia OMIM:120433
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Median cleft lip, Cleft lower lip ORPHA:401942
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Hyposp... ORPHA:251071
Burn-Mckeown Syndrome
Abnormal cardiac septum morphology, Bilateral choanal atresia, Short nose, Prominent nasal bridge... ORPHA:1200
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Pallister-Hall Syndrome
Cleft palate, Depressed nasal bridge, Ventricular septal defect, Y-shaped metacarpals, Short nose... OMIM:146510
Diaphragmatic Hernia 4, With Cardiovascular Defects
Bulbous nose, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Hepatomega... OMIM:620025
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Hydrocephalus, Retinal degeneration, Buphthalmos, Megalocornea, Opacifi... OMIM:253280
Pagod Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of th... ORPHA:991
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Atrial septal defect, Cleft palate, Thin vermi... OMIM:608572
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Recombinant 8 Syndrome
Cleft upper lip, Gingival overgrowth, Clinodactyly of the 5th finger, Atrial septal defect, Cleft... ORPHA:96167
17Q21.31 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Abnormality of the dentition, Short philtrum, Short ... ORPHA:217340
Autosomal Recessive Amelia
Abnormal cardiac septum morphology, Hypoplasia of penis, Acromelia of the lower limbs, Oral cleft... ORPHA:1027
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Apert Syndrome
Hydrocephalus, Cleft palate, Cutaneous syndactyly, Delayed eruption of teeth, Rhizomelic arm shor... OMIM:101200
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Foveal hyperpigmentation, Optic... OMIM:609218
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Deviation of finger, Short nose, Hydronephrosis, Anteverted nares ORPHA:1450
Acces Syndrome
Ectrodactyly, Clinodactyly of the 5th finger, Split foot, Tracheoesophageal fistula, Horseshoe ki... OMIM:619959
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Depressed nasal bridge, Pulmonary hypoplasia, Microphthalmia, Short long bone, Anal... OMIM:617925
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Talipes equinovarus, Overlapping fingers, Pulmonary hypopla... OMIM:616531
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Pulmonary hypoplasia, Bowing of ... OMIM:614091
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft upper lip, Talipes equinovarus, Cleft palate, Holoprosencephaly, 3-4 finger cu... OMIM:612530
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Adducted thumb, Wide nose, Patent foramen ovale, Hypoplastic spleen, Rocker... ORPHA:89844
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, Cleft palate, Congenital hip dislocation, Tapered finger, Single transve... OMIM:300209
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Brachydactyly, Abnormal metac... ORPHA:2370
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Short nose, An... OMIM:616894
Joubert Syndrome 16
Encephalocele, Polydactyly, Retinal dystrophy, Coloboma OMIM:614465
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Coloboma, Bifid distal phalanx of the thumb, Broad distal phalanx of the th... OMIM:120400
Thoracoabdominal Syndrome
Cleft upper lip, Hydrocephalus, Cleft palate, Renal agenesis, Hypospadias, Anencephaly, Ectopia c... OMIM:313850
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Finger syndactyly, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand... ORPHA:380
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Microphthalmia, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Bifid to... OMIM:616300
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Coloboma OMIM:251505
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Broad nasal tip, Oral cleft, Large hands, Preaxial hand polydactyly ORPHA:85287
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme... OMIM:218530
Dextrocardia
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the ureter,... ORPHA:1666
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Renpenning Syndrome
Anal atresia, Narrow mouth, Clinodactyly of the 5th finger, High, narrow palate, Cleft palate, He... ORPHA:3242
Frontofacionasal Dysplasia
Microphthalmia, Depressed nasal ridge, Cleft palate, Dimple on nasal tip, Depressed nasal bridge,... ORPHA:1791
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Preaxial hand polydactyly, Cleft palate OMIM:601420
Bardet-Biedl Syndrome 12
Polydactyly, Rod-cone dystrophy OMIM:615989
Rubinstein-Taybi Syndrome 1
High palate, Dental crowding, Prominent fingertip pads, Cleft palate, Single transverse palmar cr... OMIM:180849
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cleft palate, Split foot, Abnormality of the urinary system, Median cleft lip... DECIPHER:46
Vater/Vacterl Association
Hypoplasia of the radius, Tracheoesophageal fistula, Radioulnar synostosis, Ventricular septal de... OMIM:192350
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Meier-Gorlin Syndrome 7
High palate, Bowing of the legs, Anal atresia, 2-3 toe syndactyly, Atrial septal defect, Narrow m... OMIM:617063
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Thin vermilion border, Abnormal nasal morphology, Brachydactyly, ... ORPHA:3303
Femoral-Facial Syndrome
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Ventricular septal defect, Short no... OMIM:134780
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cleft palate, Abnormal tracheal morphology, Ureteral stenosis, Dex... ORPHA:2257
Constricting Bands, Congenital
Cleft upper lip, Talipes equinovarus, Cleft palate, Syndactyly, Bladder exstrophy, Ectopia cordis... OMIM:217100
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Preaxial polyda... OMIM:603671
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micromelia, Delayed eruptio... OMIM:184260
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Intestinal atresia, Tracheoesophageal fistula, Abnormality of... ORPHA:93941
Acro-Renal-Mandibular Syndrome
High palate, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the tongue, Split foot, Hypoplasia o... ORPHA:958
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Narrow mouth, Arteriovenous malformation, Abnormal hip bone morphology, Genu varum, Carious teeth... ORPHA:1110
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Marden-Walker Syndrome
High palate, Narrow mouth, Talipes equinovarus, High, narrow palate, Cleft palate, Micropenis, Ar... OMIM:248700
3P25.3 Microdeletion Syndrome
Cleft palate, Depressed nasal bridge, 2-3 finger syndactyly, Short philtrum, Tapered finger, Broa... ORPHA:435638
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Wide mouth, Clinodactyly of the 5th finger, Atrial septal defect, Trache... OMIM:301030
Charge Syndrome
Cleft palate, Tracheoesophageal fistula, Down-sloping shoulders, Hypoplasia of the ulna, Ventricu... OMIM:214800
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the uppe... ORPHA:1106
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Genu valgum, Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Intellectual Developmental Disorder, Autosomal Dominant 66
Clinodactyly of the 5th finger, Secundum atrial septal defect, Toe clinodactyly, Arachnodactyly, ... OMIM:619910
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot OMIM:601348
Meckel Syndrome, Type 2
Microphthalmia, Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand po... OMIM:603194
Meckel Syndrome, Type 6
Cleft upper lip, Aplasia of the bladder, Hydrocephalus, Talipes equinovarus, Cleft palate, Anence... OMIM:612284
Phaver Syndrome
Myelomeningocele, Depressed nasal bridge, Broad hallux phalanx, Camptodactyly of finger, Coarctat... ORPHA:2876
Diprosopus
Abnormal cardiac septum morphology, Anencephaly, Cleft palate, Non-midline cleft lip ORPHA:1681
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Depressed nasal ridge, Tetralogy of Fallot, Ventricular sep... ORPHA:1727
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormal optic disc morphology, Encep... ORPHA:65
Adams-Oliver Syndrome
Short distal phalanx of finger, Absent hand, Arteriovenous malformation, Abnormal pulmonary valve... ORPHA:974
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Exocrine pancreatic insufficiency, Atrioventricular canal defect, Broad hallux, Ve... ORPHA:508498
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Hereditary Mucoepithelial Dysplasia
Gingival overgrowth, Tracheoesophageal fistula, Hematuria, Furrowed tongue, Abnormality of the bl... ORPHA:1839
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cleft palate, Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Tetralogy of Fallot, B... ORPHA:306542
Townes-Brocks Syndrome 1
Tracheoesophageal fistula, Ventricular septal defect, Anal atresia, Rectoperineal fistula, Tetral... OMIM:107480
Isolated Aniridia
Peters anomaly, Aniridia, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Bulbous nose, Talipes equinovarus, Depressed nasal bridge, Transposition of the great arteries, P... OMIM:616789
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:613801
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate, Congenital hip dislocation, Anophthalmia, Microphthalmia OMIM:164180
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... ORPHA:2725
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Wide mouth, Bulbous nose, Cleft palate, Depressed nasal bridg... OMIM:618454
Keutel Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Cartilaginous ossification ... OMIM:245150
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Broad nasal tip, Syndactyly, Polydactyly, Recurrent aspir... OMIM:300484
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Renal hypoplasia/aplasia, Aqueductal stenosis, Renal agenesis, Trach... ORPHA:3412
Prune Belly Syndrome
Abnormality of the ureter, Congenital hip dislocation, Ventricular septal defect, Congenital post... ORPHA:2970
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Mosaic Trisomy 16
Wide mouth, Single coronary artery origin, Craniofacial asymmetry, Ventricular septal defect, Sin... ORPHA:1708
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Cleft palate, Micropenis, Hypospadias, Coarctation of aorta, Tetralogy of Fallot... OMIM:600460
Ververi-Brady Syndrome
Metaphyseal irregularity, Bulbous nose, Clinodactyly of the 5th finger, Broad nasal tip, Wide nos... OMIM:617982
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Renal cyst, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Postaxial hand polydactyly, Preaxial foot polydactyly, Triphalangeal thumb, Multicystic kidney dy... ORPHA:2091
Diabetic Embryopathy
Hydrocephalus, Micropenis, Ureteral duplication, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1926
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Abnormality of the upper urinary tract, Camptodactyly of fin... ORPHA:2547
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Microphthalmia, Retinal detachment, Retinal dystrophy, Optic... OMIM:251270
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Postaxial polydactyly, Bifid tongue, Bifid uvula, Tetralog... OMIM:174300
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Long philtrum, Tetralogy of Fallot, Short nose, Sandal gap, Ventricular hyp... OMIM:300887
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Renal agenesis, Hypoplasia of... ORPHA:139466
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Abnormal h... ORPHA:93323
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Bulbous nose, Cleft palate, Abnormality of the dentition, Shor... ORPHA:567
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Jawad Syndrome
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... OMIM:251255
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Hypoplasia of penis, Clef... ORPHA:861
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
High palate, Bulbous nose, Cleft palate, Ventricular septal defect, Open mouth, Thick lower lip v... OMIM:220500
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Atrial septal defect, Abnormal morphology of the radius, Ventricular ... ORPHA:3469
Fadd-Related Immunodeficiency
Ventricular septal defect, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Anal atresia, Hydrocephalus, Atrial septal defect, Cleft palate, Micropenis, Hypospadias... OMIM:309801
Phosphoribosylaminoimidazole Carboxylase Deficiency
Clinodactyly of the 5th finger, Talipes equinovarus, Tracheoesophageal fistula, Depressed nasal b... OMIM:619859
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Split foot, Oral cleft, Microphthalmia, Widely-spaced maxillary ce... OMIM:601349
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Syndactyly, Brachydactyly, Polyd... OMIM:615986
Mckusick-Kaufman Syndrome
High palate, Cleft palate, Ventricular septal defect, Ectopic anus, Anal atresia, Tetralogy of Fa... ORPHA:2473
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... OMIM:602418
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Infantile Myofibromatosis
Neoplasm of the pancreas, Tracheoesophageal fistula, Abnormality of the kidney, Neoplasm of the l... ORPHA:2591
Fraser Syndrome 1
Cleft palate, Depressed nasal bridge, Cleft ala nasi, Pulmonary hypoplasia, Abnormality of the th... OMIM:219000
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Muscular ventricular septal defect, Unilateral renal agenesis, Tracheoesophagea... OMIM:619227
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Cleft palate, Depressed nasal bridge, Ureteral obstruction, S... ORPHA:90652
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Abnormality of the tongue, Intestinal malrotation, Partial duplication of thumb ... OMIM:601165
Alg3-Cdg
High palate, Metaphyseal chondrodysplasia, Macroglossia, Coarctation of the descending aortic arc... ORPHA:79321
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Charge Syndrome
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Depressed nasal brid... ORPHA:138
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Polydactyly, Renal insufficiency OMIM:615987
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Anal atresia,... ORPHA:391641
Baraitser-Winter Syndrome 1
Cleft upper lip, Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Long philt... OMIM:243310
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Clinodactyly of the 5th finger, Left ventricular hypertrophy, Dextrotransp... OMIM:618619
Heart And Brain Malformation Syndrome
Gastroesophageal reflux, High, narrow palate, Everted lower lip vermilion, Depressed nasal bridge... OMIM:616920
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Br... OMIM:236500
20Q13.33 Microdeletion Syndrome
Bulbous nose, Abnormal cardiac ventricle morphology, Talipes equinovarus, Atrial septal defect, T... ORPHA:261311
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Joint contracture of the hand, Hypospadias, Broad hallux phalanx, Camptodactyly of... OMIM:175700
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Double outlet right ventricle, Talip... OMIM:301056
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Cleft palate, Short philtrum, Camptodactyly of finger... ORPHA:1617
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Short philtrum, Brachydactyly, Abnormal meta... ORPHA:1406
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... OMIM:613091
Zaki Syndrome
High palate, Ectrodactyly, Wide mouth, Renal agenesis, Hypoplasia of the phalanges of the toes, B... OMIM:619648
Hyperlysinemia
High palate, Argininuria, Gastroesophageal reflux, Cystinuria, Depressed nasal ridge, Pulmonary a... ORPHA:2203
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Gastroesopha... ORPHA:2306
3C Syndrome
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Depressed nasal br... ORPHA:7
Hartsfield Syndrome
Cleft palate, Aplasia/Hypoplasia of the radius, Non-midline cleft lip, Microphthalmia, Split hand... ORPHA:2117
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Depress... ORPHA:2756
Penile Agenesis
Anal atresia, Urethral atresia, male, Rectal fistula, Urethral fistula, Atrial septal defect, Bil... ORPHA:49
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Atrial septal defect, Micropenis, Tapered finger, Ventricular septal defect, Short ... OMIM:613870
8P23.1 Duplication Syndrome
Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Wide nose, Hydr... ORPHA:251076
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Juberg-Hayward Syndrome
Cleft upper lip, Abnormality of toe, Limited elbow extension, Horseshoe kidney, Anteriorly placed... OMIM:216100
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia ORPHA:3032
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Cleft upper lip, Short toe, Delayed ossification of carpal bones,... OMIM:239300
Bartsocas-Papas Syndrome 1
Short metacarpal, Absent thumb, Cleft palate, Short nose, Facial cleft, Microphthalmia, Cleft upp... OMIM:263650
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
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Acrocallosal Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Triangular mouth, Cleft palate, Shor... OMIM:200990
Renal Agenesis, Bilateral
Cleft palate, Renal agenesis, Tracheoesophageal fistula, Sirenomelia, Pulmonary hypoplasia, Non-m... ORPHA:1848
Tonne-Kalscheuer Syndrome
Narrow mouth, Velopharyngeal insufficiency, Micropenis, Hypospadias, Brachydactyly, Downturned co... OMIM:300978
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Ventricular sept... OMIM:600001
Congenital Hypothyroidism
Nephrolithiasis, Macroglossia, Abnormal pericardium morphology, Depressed nasal ridge, Tracheoeso... ORPHA:442
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Microphthalmia, Isolated 5
Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid macular edema, Optic disc d... OMIM:611040
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Recurrent respiratory infections, Microphthalmia ORPHA:2432
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... OMIM:619980
Down Syndrome
Atrioventricular canal defect, Single transverse palmar crease, Ventricular septal defect, Sandal... OMIM:190685
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Short fourth metatarsal, Hyposmia, Micropenis, Polyuria, Brachydactyl... OMIM:615994
Distal Tetrasomy 15Q
High palate, Hydrocephalus, Atrial septal defect, Arachnodactyly, Abnormality of the kidney, Neph... ORPHA:314588
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Anal atresia, Cleft upper lip, Clinodactyly of the 5th finger, Atrial septal defect,... OMIM:612582
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... OMIM:613426
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Broad hallux, Ventricular septal defect, Pneumonia, Abnormal heart morphology, Nep... ORPHA:353281
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Dental crowding, Atrial septal defect, Arachnodactyly, Intestinal malr... OMIM:617602
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Distal Trisomy 14Q
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology, Abn... ORPHA:1705
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, Brachydactyly, Ectopia lentis OMIM:614819
Thanatophoric Dysplasia
Hydrocephalus, Atrial septal defect, Abnormality of the kidney, Micromelia, Brachydactyly, Abnorm... ORPHA:2655
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Peripheral pulmonary artery stenosis, Atrial septal defect, Cleft palate, Shortenin... OMIM:614749
Agnathia-Otocephaly Complex
Narrow mouth, Secundum atrial septal defect, Cleft palate, Holoprosencephaly, Tracheomalacia, Sit... OMIM:202650
Orofaciodigital Syndrome Type 6
High palate, Renal hypoplasia/aplasia, Cleft palate, Preaxial polydactyly, Broad nasal tip, Renal... ORPHA:2754
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Coarctation of aorta, Postaxial hand polydactyly, Broad hallux, Hamartoma ... OMIM:217085
Mirage Syndrome
Talipes equinovarus, Lymphopenia, Gastroesophageal reflux, Aspiration pneumonia, Radial club hand... OMIM:617053
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat... ORPHA:33445
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Verheij Syndrome
Abnormal cardiac septum morphology, Renal agenesis, Long philtrum, Short 5th finger, Short nose, ... OMIM:615583
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Nephroblastoma, Syndactyly, Polydactyly, Ventricular septal defect, Microphthalmia... OMIM:602501
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Cleft palate, Abnormality of the ureter, Brachydactyly, Bilateral singl... ORPHA:1770
1Q21.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Bulbous nose, Clinodactyly of the 5th finger, Ta... ORPHA:250989
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Cleft palate, Micropenis, Postaxial polydactyly, Hypospadias, Anence... OMIM:614175
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Cleft ala nasi, Non-midline cleft lip, Underdeveloped nasal alae, Wide nasal ... ORPHA:2007
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Atelosteogenesis, Type Ii
Talipes equinovarus, Cleft palate, Bifid humerus, Micromelia, Limb undergrowth, Short middle phal... OMIM:256050
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long... ORPHA:85167
Holoprosencephaly
Depressed nasal ridge, Depressed nasal tip, Ventricular septal defect, Median cleft lip and palat... ORPHA:2162
Rosselli-Gulienetti Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Cutaneous syndactyly of toes, Microdontia, ... OMIM:225000
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Broad nasal tip... OMIM:300166
Triploidy
Aplasia/Hypoplasia affecting the eye, Wide mouth, Narrow mouth, Hydrocephalus, Abnormal cardiac s... ORPHA:3376
Meckel Syndrome, Type 1
Wide mouth, Hydrocephalus, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the u... OMIM:249000
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Hydrocephalus, Absent tibia, Depressed nasal ridge, Absent radius, Pre... ORPHA:2378
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... ORPHA:1354
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Abnormal hip bone morphology, Tracheoesophag... ORPHA:3068
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Cleft palate, Micropenis, Short femur, Hypospadias, Flared metaphysis... OMIM:616897
Phocomelia, Schinzel Type
Aplasia of the ulna, Anal atresia, Ectrodactyly, Radial bowing, Hypoplasia of penis, High, narrow... ORPHA:2879
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Lobulated tongue, Ventricular septal defect, Median cleft lip and pal... OMIM:269860
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly, Genu varum, Aortic aneu... ORPHA:1777
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis OMIM:615542
Acromicric Dysplasia
Abnormality of femur morphology, Bulbous nose, Fifth metacarpal with ulnar notch, Small hand, Bra... ORPHA:969
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Long philtrum, Short nose, Vascular dilatation, Anteverted nares, Wide na... OMIM:616430
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Bifid nasal tip, Pulmonic... OMIM:619343
Pericardial And Diaphragmatic Defect
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Morphologi... ORPHA:2847
Chromosome 18Q Deletion Syndrome
Cleft palate, Depressed nasal bridge, Short philtrum, Ventricular septal defect, Rocker bottom fo... OMIM:601808
Williams Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Wide mouth, Stroke, Abnormal carotid artery m... ORPHA:904
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Everted lower lip vermilion, Depressed nasal bridge, Long philtrum, Postaxi... ORPHA:75389
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... ORPHA:1120
Keratoconus Posticus Circumscriptus
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Recurrent urinary tract infections... OMIM:244600
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Radioulnar synostosis, Single transverse palmar crease, Short nose, Enamel agenesis... OMIM:614701
3Mc Syndrome 3
Cleft upper lip, Cleft palate, Micropenis, Preaxial polydactyly, Radioulnar synostosis, Penoscrot... OMIM:248340
C Syndrome
High palate, Wide mouth, Hepatomegaly, Micromelia, Ulnar deviation of finger, Ventricular septal ... OMIM:211750
Fanconi Anemia, Complementation Group O
Anal atresia, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Short thumb, Renal c... OMIM:613390
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Pulmonary edema, Atrial septal defect, Abnormal coronary arte... ORPHA:980
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Gastroesophageal reflux, Tracheomalacia, Bronchomalacia, Long philtrum, Pyl... OMIM:613177
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Abnormality of the kidney, Brachydactyly, Syndactyly, Polydactyly, ... OMIM:615982
Acrofacial Dysostosis 1, Nager Type
Wide mouth, Absent thumb, Cleft palate, Hypoplasia of the radius, Radioulnar synostosis, Broad ha... OMIM:154400
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Renal tubu... OMIM:610205
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate