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Gene: Amn MGI:1934943

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
amnionless
Synonyms:
5033428N14Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Amn 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.

The table below shows human diseases associated to Amn by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Imerslund-Gräsbeck Syndrome
ORPHA:35858
Imerslund-Grasbeck Syndrome 2
OMIM:618882

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Coarctation of aorta OMIM:140850
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal rib morphology, Abnormal tricuspid valv... ORPHA:1354
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly OMIM:233270
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus, Clinodactyly of ... ORPHA:228190
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Patent ductus ... ORPHA:99050
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Bronchiectasis, Situs inversus totalis OMIM:617577
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Abnormal hip bone mor... ORPHA:1166
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Vascular ring, Atrial s... OMIM:603387
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronch... OMIM:618254
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... OMIM:615297
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... ORPHA:860
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extracellu... ORPHA:229
You-Hoover-Fong Syndrome
Coarctation of aorta, Vascular ring, Clinodactyly, Double aortic arch, Brachydactyly OMIM:616954
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Aplasia/Hypoplas... ORPHA:290
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia, Abnormality of the pulmonary artery ORPHA:1065
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aort... OMIM:617478
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... OMIM:608978
Microphthalmia, Syndromic 9
Atrial septal defect, Anophthalmia, Ventricular septal defect, Agenesis of pulmonary vessels, Pat... OMIM:601186
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Small hand, Abnormal left ventricle morphology, Prem... OMIM:300845
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Ethanolaminosis
Cardiomegaly OMIM:227150
16P13.11 Microduplication Syndrome
Arachnodactyly, Ventricular septal defect, Coarctation of aorta, Hand polydactyly, Transposition ... ORPHA:261243
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu... ORPHA:1330
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Transposition of the great arteries, Tetra... ORPHA:1926
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... ORPHA:95430
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Ventricular Septal Defect 3
Patent ductus arteriosus, Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... OMIM:108900
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Recurrent respiratory infections, Hepatomegaly ORPHA:2432
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... OMIM:192430
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... ORPHA:2326
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplasti... ORPHA:2876
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Mmep Syndrome
Microphthalmia, Split foot, Ventricular septal defect, Triphalangeal thumb ORPHA:3434
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fin... ORPHA:3304
Temtamy Syndrome
Brachydactyly, Short toe, Aortic aneurysm, Clinodactyly of the 5th finger, Microphthalmia, Genu v... ORPHA:1777
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Dextrocardia
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnorma... ORPHA:1666
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Recurrent respiratory infections, Atrial septal defect, Overlapping toe, Ventricular se... OMIM:618316
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... OMIM:109730
Pulmonary Hypertension, Primary, 1
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intim... OMIM:178600
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron... ORPHA:244
Klippel-Trénaunay Syndrome
Hepatomegaly, Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, A... ORPHA:90308
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus ... OMIM:619657
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio... OMIM:601612
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... ORPHA:3426
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Missing ribs, Aortic valve stenosis, Hypoplastic left hear... OMIM:220210
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Holt-Oram Syndrome
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen... ORPHA:392
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Flared metaphysis, Advanced ossification of carpal bones, Advanced tarsal os... OMIM:215045
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... OMIM:306955
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone ... ORPHA:1110
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Cam... OMIM:179613
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Pulmonary hypoplasia, Microphth... OMIM:615524
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Sandal gap, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ov... ORPHA:477817
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch OMIM:230900
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Short thumb, Abnormal heart morphology, Pulmonar... ORPHA:401935
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Atrial septal defect, Microphthalmia, Tetralogy of Fallot OMIM:300887
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect, Abnormal morphology of the radius ORPHA:3469
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Rocker bottom foot OMIM:616570
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Clinodactyly, Coarctation of aorta, Supravalvar pulmona... OMIM:618164
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Osteolysis involving bones of the upper limbs, ... ORPHA:371428
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Fetal Encasement Syndrome
Bilateral trilobed lung, Tetralogy of Fallot, Upper limb undergrowth, Lower limb undergrowth OMIM:613630
Nanophthalmos
Microphthalmia ORPHA:35612
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism, Ventricular septal defect,... OMIM:270100
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi... OMIM:612946
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Clinodactyly, Coarctation of aorta,... ORPHA:2209
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... OMIM:217085
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Micropht... OMIM:618652
Tetrasomy 15Q26
Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly, Atrial septal d... OMIM:614846
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Aortic root aneurysm, Clinodactyly ... OMIM:616652
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Ventricular septal defect, Proximal placement of thumb, Abnormal rib mo... ORPHA:93267
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Arachnodactyly, Subarachnoid hemorrhage, Bicuspid aortic valve, Cardio... ORPHA:91387
Rubinstein-Taybi Syndrome 1
Aortic isthmus hypoplasia, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Prominent fing... OMIM:180849
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly OMIM:610023
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Overlapping fingers, Overlapping toe, Ventricular septal defect, Patent for... OMIM:618494
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... OMIM:619910
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Radial deviation of finger, Camptodactyly, Microphthalmia, Clinodacty... OMIM:136760
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Rocker bottom foot, Coxa valga, ... OMIM:301056
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Aortic root aneurys... ORPHA:363618
Nanophthalmos 4
Microphthalmia OMIM:615972
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Patent ductus arteriosus, Camptodactyly of finger, Symphalangism affecting the ph... ORPHA:2547
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Oculofaciocardiodental Syndrome
Short thumb, Patent ductus arteriosus, 2-3 toe syndactyly, Genu valgum, Mitral valve prolapse, Ha... ORPHA:2712
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... ORPHA:3092
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated cardiomyopathy... OMIM:208000
Pagod Syndrome
Situs inversus totalis, Abnormal rib morphology, Pulmonary artery hypoplasia, Abnormal aortic mor... ORPHA:991
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Microphthalmia With Limb Anomalies
Anophthalmia, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, P... OMIM:206920
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Broad hallux, Pneumonia, Bicuspid aortic valve, Ventricular sep... ORPHA:353281
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia, Abnormal rib morphology ORPHA:195
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Congenital pseudoarth... ORPHA:435638
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Down Syndrome
Short palm, Atrial septal defect, Sandal gap, Ventricular septal defect, Atrioventricular canal d... OMIM:190685
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Temtamy Syndrome
Hip dislocation, Aortic aneurysm, Short 2nd toe, Microphthalmia, Brachydactyly OMIM:218340
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... OMIM:300863
Charge Syndrome
Anophthalmia, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary ar... OMIM:214800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Syndactyly, Broad hallux, Pate... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Syndactyly, Broad hallux, Pate... ORPHA:353277
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe, Split hand, Ab... ORPHA:974
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Cutaneo... OMIM:601005
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Dilatation of the cerebral artery, Bacterial... ORPHA:615
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Congenital Toxoplasmosis
Hepatomegaly, Microphthalmia, Cardiomegaly ORPHA:858
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
20Q13.33 Microdeletion Syndrome
Hallux valgus, Dilation of Virchow-Robin spaces, Tapered finger, Abnormal cardiac ventricle morph... ORPHA:261311
Trisomy 13
Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Ab... ORPHA:3378
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... ORPHA:3097
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Alg3-Cdg
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Coarctation of the descending aortic... ORPHA:79321
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Pulm... ORPHA:500
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Patent ductus arteriosus, Split hand, Absent pulmonary artery, Clubbin... OMIM:600460
Meckel Syndrome, Type 8
Anophthalmia, Pericardial effusion, Polydactyly, Microphthalmia, Enlarged kidney OMIM:613885
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Abnormal cardiac septum morphology, ... ORPHA:2059
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Ventricular septal defect, Polydactyly, Syndactyly OMIM:602501
Mosaic Trisomy 1
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Camptodactyly of finger,... ORPHA:1692
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect... OMIM:264480
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Pate... ORPHA:2257
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Stevenson-Carey Syndrome
Hip dysplasia, Left superior vena cava draining to coronary sinus, Camptodactyly, Atrial septal d... OMIM:611961
Cantu Syndrome
Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion... OMIM:239850
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Hypoplastic ischia, Cardiomegaly, Wide distal femoral metaphysis, Delayed ... OMIM:613320
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly ORPHA:141333
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia, Toe syndactyly, Finger syndactyly ORPHA:261272
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Posterior rib fusion, Atri... OMIM:265380
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Increased axial length of th... ORPHA:513456
Heart And Brain Malformation Syndrome
Microphthalmia, Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch OMIM:616920
Ritscher-Schinzel Syndrome 2
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... OMIM:300963
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyo... OMIM:256550
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Frank-Ter Haar Syndrome
Bowing of the long bones, Ventricular septal defect, Abnormally large globe, Metatarsus adductus,... OMIM:249420
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Hepatomegaly, Ventricular septal defect, Optic nerve hypopla... OMIM:620025
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Pierpont Syndrome
Short toe, Short foot, Short finger, Short palm, Prominent fingertip pads, Microphthalmia OMIM:602342
Monosomy 18Q
Arachnodactyly, Absence of the pulmonary valve, Tapered finger, Secundum atrial septal defect, Le... ORPHA:1600
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Cofs Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:1466
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly OMIM:614096
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Overlapping fingers, Ventricular septal defect, Cardiomegaly, Femoral bowing, S... OMIM:617022
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,... ORPHA:42775
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Pierpont Syndrome
Prominent fingertip pads, Microphthalmia, Short toe, Short finger ORPHA:487825
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Microphthalmia ORPHA:77298
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing ribs, Abnormal... ORPHA:3186
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Patent ductus arteriosus, Pulm... ORPHA:251071
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... OMIM:600001
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Patent ductus arteriosus, Short foot, Hand polydactyly, Abn... ORPHA:250989
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Overlapping toe, Mitral stenosis, Ventricular septal defect, Pa... ORPHA:163956
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Metaphyseal cu... ORPHA:163966
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Arterial calcification, Coronary artery calcification, Cardiomegaly OMIM:614473
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Giant Cell Arteritis
Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis, Aortic dissection, D... ORPHA:397
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... OMIM:609945
Kapur-Toriello Syndrome
Microphthalmia, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... OMIM:620067
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly OMIM:613576
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ventricular septal defect, Hepatomegaly OMIM:613730
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Patent duc... ORPHA:2092
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def... OMIM:613001
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle OMIM:614886
Joubert Syndrome 22
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly OMIM:615665
Microphthalmia, Syndromic 2
Anophthalmia, Broad hallux, Sandal gap, Ventricular septal defect, Dextrocardia, Patent ductus ar... OMIM:300166
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... OMIM:618280
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Microphthalmia, Anophthalmia OMIM:164180
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... ORPHA:85167
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Situs inversus tot... ORPHA:1908
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Distal Triplication 15Q
Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Pul... ORPHA:314588
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Down-sloping shoulders, Camptodactyly OMIM:619694
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Cardiomyopathy OMIM:613155
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infec... OMIM:252920
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Moebius Syndrome
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Lower limb undergr... OMIM:157900
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Joint contracture of the 4th finger, Joint contrac... OMIM:618914
Feingold Syndrome Type 1
Toe syndactyly, Tricuspid stenosis, Short middle phalanx of the 2nd finger, Short thumb, Patent d... ORPHA:391641
Vitreoretinochoroidopathy
Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion OMIM:193220
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... ORPHA:2788
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Ventricular hypertrophy, Congenital hip dislocation, Left atrial enlargement, Card... OMIM:300280
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Hip dis... OMIM:610758
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Proximal placement of thumb, Patent foramen ovale, Patent ductus arter... OMIM:620113
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Ventricular septal defect, Decreased fibul... OMIM:616897
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Warburg Micro Syndrome 1
Microphthalmia, Overlapping toe OMIM:600118
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Hand polydactyly, Transp... OMIM:314390
Cat Eye Syndrome
Ventricular septal defect, Absent radius, Patent ductus arteriosus, Hypoplastic left heart, Total... OMIM:115470
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Dilated cardiomyopathy, Hepatomegaly OMIM:618805
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... OMIM:619534
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Clubbing, Mitral valve... OMIM:175050
Wolcott-Rallison Syndrome
Atrial septal defect, Metaphyseal dysplasia, Double outlet right ventricle, Hepatomegaly ORPHA:1667
Hartsfield Syndrome
Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand ORPHA:2117
Craniofacial Microsomia 1
Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Partial duplication of thumb p... OMIM:164210
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... ORPHA:2255
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiomegaly, Pericardial effus... OMIM:115197
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Microphthalmia, Syndromic 8
Microphthalmia, Split foot OMIM:601349
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Atrial septal defect, Anophthalmia, Hepatomegaly, Aplastic cla... ORPHA:2538
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis, Synostosis o... ORPHA:3191
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Broad 2nd toe, Pulmonary artery stenosis, Clinodactyly, ... OMIM:280000
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature ORPHA:284227
Sandestig-Stefanova Syndrome
Rocker bottom foot, Muscular ventricular septal defect, Perimembranous ventricular septal defect,... OMIM:618804
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:48431
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Optic disc hypoplasia, Toe synda... ORPHA:959
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse... OMIM:619135
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Abnormally large globe, Cardiomegaly, Shoulder dislocation, Atrial septal ... OMIM:245600
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Recurrent lower respir... OMIM:253250
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia, Broad thumb, Brachydactyly OMIM:614526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Patent ductus arteriosus, Duplication of phalanx of hallux, Microphthalmia... OMIM:243310
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Ventricular s... OMIM:146510
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Tibial bowing, Hypoplastic iliac wing, Atrial septal defect, Sma... ORPHA:96334
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Coxa valga, Recurrent pneumonia, Second metatarsal posteriorly placed, Campto... OMIM:214150
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... ORPHA:508498
Kapur-Toriello Syndrome
Overlapping fingers, Ventricular septal defect, Camptodactyly of finger, Short thumb, Patent duct... OMIM:244300
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Microphthalmia, Clubbing of fingers, Right ventricular hypertrophy ORPHA:335
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos OMIM:619318
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Patent ductus arteriosus, Short tibia, Preaxial polydactyly, Squared iliac... OMIM:616300
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Metaphyseal irregularity, Cardiomegaly OMIM:269920
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Complete atrioventricular canal defect, Short tibia, Preaxial polydactyly,... OMIM:617925
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Coarctation of aorta, Foot polydactyly, Short palm, Microphthalmia ORPHA:268249
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Optic disc hypoplasia, Sandal gap, Ventricular... OMIM:607323
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Thin ribs OMIM:614833
Mosaic Trisomy 9
Ventricular septal defect, Rocker bottom foot, Camptodactyly of finger, Dextrocardia, Abnormal he... ORPHA:99776
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Gracile Bone Dysplasia
Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Microphthalmia, Brachydactyly OMIM:602361
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly OMIM:619981
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Flat acetabular roof, Flattened epiphysis, Abnormal femoral neck/head morphology, Wid... ORPHA:163649
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... ORPHA:1517
Adams-Oliver Syndrome 1
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypo... OMIM:100300
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Stroke, Left ventricular hypert... ORPHA:85451
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thumb, Patent foramen oval... OMIM:609053
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Tapered finger, Short thumb, Patent ductus arteriosus, Cutaneous syndactyly, Pul... OMIM:619148
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Small hand, Short foot... OMIM:300712
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Missing ribs, Abnormal lung lobation, Abnormal rib morphology, Aplasia/Hyp... ORPHA:3301
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Abnormal lung morphology, Stroke,... ORPHA:167635
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Chylothorax, Microphthalmia,... OMIM:153400
Martsolf Syndrome 1
Recurrent respiratory infections, Short metacarpal, Metatarsus adductus, Slender ulna, Short toe,... OMIM:212720
Refsum Disease
Short metacarpal, Splenomegaly, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Microph... ORPHA:773
De Barsy Syndrome
Recurrent sinopulmonary infections, Congenital hip dislocation, Ventricular septal defect, Patent... ORPHA:2962
Bartsocas-Papas Syndrome 2
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand OMIM:619339
Meckel Syndrome, Type 4
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Atrial septal de... OMIM:611134
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... ORPHA:1352
Microphthalmia With Limb Anomalies
Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinoda... ORPHA:1106
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Digeorge Syndrome
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Splenomega... OMIM:188400
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Recurrent pharyngitis, Myocarditis, Vasculitis, Ab... ORPHA:2331
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Postaxial polydactyly, 2-3 toe syndactyly, Abnormal heart morphology, ... ORPHA:404440
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Fanconi Anemia, Complementation Group F
Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3 fin... OMIM:603467
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Myhre Syndrome
Atrial septal defect, Overlapping toe, Ventricular septal defect, Pericardial effusion, Patent du... OMIM:139210
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly OMIM:611561
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Hypoplastic aortic a... OMIM:617506
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Pleural effusion, Cardiomegaly OMIM:614702
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Hip dysplasia, Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Atrial septal defect, Overlapping fingers, Overlapping toe, Ventricular septal... ORPHA:464738
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect ORPHA:85194
Ring Chromosome 10 Syndrome
Microphthalmia, Sandal gap, Tapered finger ORPHA:1438
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:619053
Stuve-Wiedemann Syndrome 1
Tibial bowing, Femoral bowing, Short tibia, Short phalanx of finger, Clubbing, Abnormal metaphyse... OMIM:601559
Atypical Werner Syndrome
Short palm, Prominent superficial veins, Rocker bottom foot, Abnormal cerebral vascular morpholog... ORPHA:79474
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Abnormal lung morphology, Patent ductus ar... ORPHA:141127
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosu... OMIM:301043
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... OMIM:618223
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Missing rib... OMIM:206900
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Abnormal lung lobation, Finger clinodactyly, Clinodactyly of the 5th ... ORPHA:508488
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Hepat... ORPHA:99931
Microcephaly-Micromelia Syndrome
Absent thumb, Absent radius, Missing ribs, Short tibia, Humeroradial synostosis, Forearm undergro... OMIM:251230
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Lissencephaly 8
Microphthalmia OMIM:617255
Joubert Syndrome 37
Microphthalmia, Postaxial polydactyly, Hepatomegaly OMIM:619185
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Camptodactyly of fing... OMIM:602782
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hypoplastic aortic arch, Hip dysplas... ORPHA:457284
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Camptodactyly of finger, Rocker bottom foot OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Cardiomegaly, Abnormal finger morphology, Aplasia of... ORPHA:3472
Galloway-Mowat Syndrome 3
Arachnodactyly, Hip dislocation, Coarctation of aorta, Camptodactyly, Microphthalmia OMIM:617729
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Marden-Walker Syndrome
Arachnodactyly, Dextrocardia, Radioulnar synostosis, Pulmonary hypoplasia, Camptodactyly, Microph... OMIM:248700
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,... ORPHA:163979
Seckel Syndrome 9
Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ... OMIM:616777
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Bilateral microphthalmos, Abnormal heart morphology, Campt... ORPHA:369891
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Pneumoth... OMIM:619879
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Unilateral microphthalmos OMIM:615085
Cousin Syndrome
Hypoplastic scapulae, Dislocation of the femoral head, Hypoplastic ischia, 4-5 toe syndactyly, Hu... OMIM:260660
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph... ORPHA:139471
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Camptodactyly of finger, Fifth finger distal phalanx ... ORPHA:2839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Joubert Syndrome 14
Intracranial hemorrhage, Microphthalmia, Ventricular septal defect, Postaxial polydactyly OMIM:614424
Keutel Syndrome
Ventricular septal defect, Recurrent bronchitis, Short hallux, Premature fusion of phalangeal epi... OMIM:245150
Adams-Oliver Syndrome 2
Microphthalmia, Absent distal phalanges, Short middle phalanx of finger OMIM:614219
Fanconi Anemia
Abnormal femur morphology, Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th fin... ORPHA:84
22Q11.2 Deletion Syndrome
Arachnodactyly, Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriola... ORPHA:567
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Brachydactyly, Tibial bowing, Thin ribs, Slender long bone, Short fo... OMIM:601812
Bresek Syndrome
Microphthalmia, Postaxial hand polydactyly, Optic nerve hypoplasia ORPHA:85284
Nance-Horan Syndrome
Microphthalmia, Short metacarpal ORPHA:627
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature ORPHA:33001
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Marfan Syndrome
Pulmonary artery dilatation, Mitral valve calcification, Spontaneous pneumothorax, Arachnodactyly... ORPHA:558
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Cardiomegaly ORPHA:3137
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Sandal gap, 3-4 finger cutaneous syndactyly, Pulmonary hypoplasia, Mic... OMIM:612530
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Ventricular septal defect, Aniridia, Microphthalmia, Camptodactyly of... ORPHA:251038
X-Linked Dominant Chondrodysplasia Punctata
Abnormal lung morphology, Neonatal epiphyseal stippling, Hip dislocation, Anterior rib punctate c... ORPHA:35173
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Loeys-Dietz Syndrome 1
Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Arterial tortuosity, Descending thor... OMIM:609192
Meckel Syndrome, Type 2
Microphthalmia, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly OMIM:603194
3Q29 Microdeletion Syndrome
Tapered finger, Patent ductus arteriosus, Subvalvular aortic stenosis, Clinodactyly of the 5th fi... ORPHA:65286
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy OMIM:212140
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Proximal placement of thumb OMIM:617883
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Broad hallux OMIM:614105
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Pleural effusion OMIM:235200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Recurrent respiratory infections, Short humerus, Short femur, Hepatomegaly, Patent ductus arterio... ORPHA:17
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Hypoplastic right heart, Ventricular septal defect, Patent foramen ovale, Patent duct... OMIM:616894
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy ORPHA:370959
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Ventricular septal defect, Tapered finger, Slender... ORPHA:193
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal d... OMIM:157800
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, 2-3 toe syndactyly, Atrial septal defect, Microph... OMIM:616449
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Monosomy 18P
Microphthalmia, Brachydactyly ORPHA:1598
Matthew-Wood Syndrome
Microphthalmia, Abnormal lung morphology, Anophthalmia, Pulmonary hypoplasia ORPHA:2470
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic morphology, S... ORPHA:1052
Peters Plus Syndrome
Toe syndactyly, Patent ductus arteriosus, Short toe, Bicuspid pulmonary valve, Short foot, Abnorm... ORPHA:709
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Atrial septal defect, Microphthalmia, Histiocytoid c... OMIM:309801
Myoclonic-Astatic Epilepsy
Microphthalmia, Syndactyly ORPHA:1942
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Cardiac fibroma, Cardiac rhabdomyoma, Polydactyly, Short ribs, Bifid ribs... OMIM:109400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Short foot, Broad proximal phalanges of the hand, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Marfan Syndrome
Pulmonary artery dilatation, Arachnodactyly, Protrusio acetabuli, Bicuspid aortic valve, Equinus ... OMIM:154700
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Short thumb, Short toe, Patent ductus arteriosus, ... OMIM:164280
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Hydrolethalus
Microphthalmia, Postaxial hand polydactyly, Anophthalmia ORPHA:2189
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Overlapping toe, Abnormal heart morphology OMIM:618571
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta OMIM:614921
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Recurrent upper respira... ORPHA:2399
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Hip contracture, Internally rotated shoulders, Mitral at... OMIM:619503
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve... ORPHA:324410
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Syndactyly, Long toe, Broad hallux, Pulmonary artery sling, Arachnodactyly, Bicusp... ORPHA:261537
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Oculodentodigital Dysplasia, Autosomal Recessive
Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, Small hand, 3-... OMIM:257850
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... OMIM:610655
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Splenomegal... OMIM:249000
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Atrial septal defect, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, D... OMIM:612474
Charge Syndrome
Aortic arch aneurysm, Anophthalmia, Patent ductus arteriosus, Abnormal tibia morphology, Abnormal... ORPHA:138
Holoprosencephaly
Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Aplasia/Hypoplasia ... ORPHA:2162
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... ORPHA:2396
Fanconi Anemia, Complementation Group R
Microphthalmia, Radial dysplasia, Absent thumb OMIM:617244
Refsum Disease, Classic
Cardiomyopathy, Short fourth metatarsal, Cardiomegaly OMIM:266500
Cutis Laxa, Autosomal Recessive, Type Ib
Arachnodactyly, Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuo... OMIM:614437
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Promin... OMIM:614609
Teebi-Shaltout Syndrome
Syndactyly, Ventricular septal defect, Rocker bottom foot, Metatarsus adductus, Camptodactyly, Mi... OMIM:272950
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular hypertrophy, Abnormal ven... ORPHA:1677
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia ORPHA:1915
Atelis Syndrome 2
Patent ductus arteriosus, Supravalvar pulmonary stenosis, Pulmonic stenosis, Microphthalmia, Clin... OMIM:620185
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Protrusio acetabuli, Femoral retroversion, Bowing of... OMIM:610682
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Left atrial enlargement, Clubbing of toes, Right ventricular di... ORPHA:99106
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Thoracic aortic aneurysm, Transient ischemic attack, Cardiomegaly, Respiratory trac... ORPHA:365
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Stroke-like episode, Microphthalmia, Conge... ORPHA:137675
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Calcaneovalgus deformity, Abnormality of the pulmonary artery, Long hallux... ORPHA:261552
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly, Brachydactyly OMIM:618727
Glycogen Storage Disease Ii
Recurrent respiratory infections, Hepatomegaly, Subarachnoid hemorrhage, Cardiomegaly, Splenomega... OMIM:232300
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmia, Complete dup... OMIM:600901
Amyloidosis, Hereditary, Transthyretin-Related
Stroke-like episode, Cardiomegaly, Cardiomyopathy, Pulmonary edema OMIM:105210
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Beck-Fahrner Syndrome
Hip dysplasia, Ventricular septal defect, Cardiomegaly OMIM:618798
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Short thumb, Patent ductus arteriosus, Preaxial hand polydactyly, Pa... OMIM:227646
Lethal Acantholytic Erosive Disorder
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5... ORPHA:158687
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Metaphyseal widening, Hepatomegaly, Split hand, Flat acetabular roof, Flared iliac ... OMIM:252500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short foot, Microphthalmia, Small hand, Short palm OMIM:241410
Jacobsen Syndrome
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Missing ribs, ... OMIM:147791
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, Short tibia OMIM:620306
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Finger clinodactyly, Microphthalmia, Tetralogy of Fallot, Brachydactyly ORPHA:306542
Thoracoabdominal Syndrome
Patent ductus arteriosus, Transposition of the great arteries, Pulmonary hypoplasia, Ectopia cordis OMIM:313850
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Prominent fingertip pads, Microphthalmia, Joint contracture of the 5th finger, 2-3 toe syndactyly OMIM:620098
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Ventricular septal defect OMIM:234050
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmia, Complete dup... OMIM:227650
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Postaxial hand polydactyly, Abnormal rib morp... ORPHA:3380
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th... ORPHA:568
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Curry-Jones Syndrome
Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot pol... OMIM:601707
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Perlman Syndrome
Visceromegaly, Interrupted aortic arch OMIM:267000
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Microphthalmia OMIM:617306
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly OMIM:618886
Chondrodysplasia Punctata 2, X-Linked Dominant
Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, Stippled cal... OMIM:302960
Nance-Horan Syndrome
Microphthalmia, Short phalanx of finger, Broad finger OMIM:302350
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... OMIM:235730
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Subdural hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Mi... ORPHA:90324
Doors Syndrome
11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology, Ab... ORPHA:79500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Tapered toe, Tapered finger, Cardiomegaly, Long fingers, Dilated cardiomy... OMIM:608836
Warburg Micro Syndrome 2
Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe OMIM:614225
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Microphthalmia OMIM:614222
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Microphthalmia ORPHA:2728
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Long fingers, P... OMIM:256520
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Tapered finger, Patent ductus arteriosus, Small hand, Hip dysplasia, Atrial sep... OMIM:620005
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Hypoplastic distal radial epiphyses, Mitral valve calcification... OMIM:182250
Walker-Warburg Syndrome
Metatarsus valgus, Microphthalmia, Anophthalmia ORPHA:899
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Right atrial enlargement, Left ventricular h... ORPHA:57777
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Pallister-Hall Syndrome
Abnormal lung lobation, Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyl... ORPHA:672
Fryns Syndrome
Atrial septal defect, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb,... OMIM:229850
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... ORPHA:3103
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Mend Syndrome
Overlapping fingers, Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Abnormal he... ORPHA:401973
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Recurrent respiratory infections ORPHA:1806
Rodrigues Blindness
Microphthalmia OMIM:268320
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Overlapping fingers, Left v... ORPHA:79330
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Arachnodactyly, Cardiomegaly, Thin ribs, Thin metatarsal cortices, Slender long bone, Thin metaca... ORPHA:2463
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Fontaine Progeroid Syndrome
Syndactyly, Prominent superficial veins, Atrial septal defect, Bicuspid aortic valve, Patent duct... OMIM:612289
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Townes-Brocks Syndrome
Broad hallux phalanx, Atrial septal defect, Toe syndactyly, Abnormal pulmonary valve morphology, ... ORPHA:857
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Frontorhiny
Finger clinodactyly, Microphthalmia, Camptodactyly of finger, Brachydactyly ORPHA:391474
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, Bilateral microphthalmos, Short sternum, Femoral bowing ORPHA:2563
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Coxa valga, Splenomegaly, Cherry re... OMIM:230000
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse, Unilateral microphthalmos, Adducted thumb OMIM:618874
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy OMIM:300952
Vacterl With Hydrocephalus
Anophthalmia, Hypoplasia of the radius, Hip dislocation, Pulmonary hypoplasia, Microphthalmia ORPHA:3412
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete dup... OMIM:227645
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... ORPHA:1329
Ohdo Syndrome, X-Linked
Overlapping toe, Short thumb, Long thumb, Hip dysplasia, Microphthalmia, Clinodactyly OMIM:300895
Aicardi Syndrome
Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid ribs, Microphthalmia ORPHA:50
8Q21.11 Microdeletion Syndrome
Microphthalmia, Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology ORPHA:284160
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Oculodentodigital Dysplasia
Atrial septal defect, 4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger... OMIM:164200
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Stroke, Cardiomegaly OMIM:603903
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Hip dysplasia, Clinodactyly of t... OMIM:616975
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Metaphyseal widening, Recurrent pneumonia, Thin ribs, Slender l... OMIM:234100
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cardiomegaly, Splenomegaly, Cardiomy... ORPHA:465508
Developmental And Epileptic Encephalopathy 95
Short digit, Short fourth metatarsal, Hepatomegaly, Cardiomegaly, Clinodactyly of the 5th finger,... OMIM:618143
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Short metacarpal, Camptodactyly, Syndactyly OMIM:614230
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, 3-4 finger syndactyly, 2-3 toe syndactyly OMIM:615877
Monosomy 9Q22.3
Microphthalmia, Cardiac fibroma, Abnormal rib morphology, Polydactyly ORPHA:77301
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Arteritis, Abnormality of the pulmonary vasculature, Pulmonary hemorrhage ORPHA:93126
Aicardi Syndrome
Proximal placement of thumb, Missing ribs, Recurrent pneumonia, Rib fusion, Supernumerary ribs, B... OMIM:304050
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Respiratory tract infection, Left ventricular hypertrophy, Hypertroph... ORPHA:308552
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Postaxial hand polydactyly, Abnormal cardiac septum morphology, Abnormal lung lob... ORPHA:2166
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Abnormal hip joint morphology, Medial calcification of large arteries, T... ORPHA:51608
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Microphthalmia OMIM:156610
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Ogden Syndrome
Atrial septal defect, Congenital hip dislocation, Sandal gap, Broad hallux, Left atrial enlargeme... OMIM:300855
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Hepatomegaly, Cardiomegaly, Respiratory tract infection, Avas... ORPHA:581
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Renpenning Syndrome 1
Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Camptodactyly, Clinodact... OMIM:309500
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Degcags Syndrome
Syndactyly, Hepatomegaly, Toe syndactyly, Ventricular septal defect, Pneumonia, Short thumb, Pate... OMIM:619488
Incontinentia Pigmenti
Finger syndactyly, Camptodactyly of finger, Absent hand, Deviation of finger, Supernumerary ribs,... ORPHA:464
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia OMIM:608013
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger OMIM:201180
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Camptodactyly of finger, Broad thumb, Tapered finger ORPHA:1236
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Hypoplastic scapulae, Pericarditis, Dextrocardia, Abnormal ... ORPHA:3310
Mowat-Wilson Syndrome
Hallux valgus, Syndactyly, Long toe, Broad hallux, Pulmonary artery sling, Bicuspid aortic valve,... ORPHA:2152
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia ORPHA:2203
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Joubert Syndrome 2
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly OMIM:608091
Tetraamelia Syndrome 1
Microphthalmia, Pulmonary hypoplasia, Hypoplastic pelvis, Peripheral pulmonary vessel aplasia OMIM:273395
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Micro Syndrome
Microphthalmia ORPHA:2510
Hallermann-Streiff Syndrome
Small hand, Short foot, Rib exostoses, Short ribs, Clinodactyly of the 5th finger, Microphthalmia ORPHA:2108
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Focal Dermal Hypoplasia
Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyl... OMIM:305600
Meckel Syndrome
Bowing of the long bones, Anophthalmia, Situs inversus totalis, Preaxial hand polydactyly, Postax... ORPHA:564
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Slender finger, Camptodactyly OMIM:251300
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe, Ventricular septal hyper... OMIM:608670
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Transient ischemic attack, Cerebral arteriovenous malformatio... OMIM:187300
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia, Adducted thumb OMIM:614643
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of... ORPHA:364577
Cockayne Syndrome
Hepatomegaly, Splenomegaly, Retinal arteriolar constriction, Abnormal epiphysis morphology, Micro... ORPHA:191
Stromme Syndrome
Microphthalmia, Preaxial polydactyly, Optic nerve hypoplasia OMIM:243605
Vater/Vacterl Association
Syndactyly, Ventricular septal defect, Absent radius, Short thumb, Patent ductus arteriosus, Hypo... OMIM:192350
Unilateral Polymicrogyria
Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Ventricular septal defect, Hip dislocation, Clinodactyly of the 5th finger, Micr... OMIM:613884
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... OMIM:300967
Oculo-Palato-Cerebral Syndrome
Short foot, Microphthalmia, Small hand ORPHA:2714
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia OMIM:259770
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris,... OMIM:133540
Aicardi-Goutières Syndrome
Cardiomegaly, Calcification of the aorta, Hepatosplenomegaly, Aortic aneurysm, Hypertrophic cardi... ORPHA:51
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Craniorachischisis
Bifid sternum ORPHA:63260
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Broad hallux, Atrial septal defect, Microphthalmia, Clinodactyl... OMIM:620186
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Supernumerary ribs OMIM:308300
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Short thumb, Small hand, Short foot, Short palm, Microphthalmia OMIM:268400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Chylothorax, Atrial septal defect, Microphthalmia, Pleural effusion ORPHA:2526
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Clinodactyly of the 5... ORPHA:904
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Hydrolethalus Syndrome 1
Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... OMIM:236680
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Atelectasi... OMIM:618278
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Clinodactyly of the 5th finger, Syndactyly OMIM:223370
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... OMIM:127000
Trichothiodystrophy
Ventricular septal defect, Recurrent bronchopulmonary infections, Bilateral microphthalmos, Clubb... ORPHA:33364
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Atelectasis, Abnormal rib morphology, Hip dislocation, Genu val... ORPHA:534
Monosomy 9P
Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydactyly, Abnorma... ORPHA:261112
Papillorenal Syndrome
Microphthalmia OMIM:120330
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Microp... ORPHA:141099
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Optic nerve hypoplasia OMIM:236670
Roberts-Sc Phocomelia Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Atrial septal defect, Ventricular septal defec... OMIM:268300
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Microphthalmi... ORPHA:1587
Treacher-Collins Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:861
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly ORPHA:96191
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... OMIM:600376
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:228308
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Broad hallux, Arachnodactyly, Short finger OMIM:601552
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, ... ORPHA:2556
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Fanconi Anemia, Complementation Group L
Absent radius, Microphthalmia, Absent thumb OMIM:614083
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Skin Creases, Congenital Symmetric Circumferential, 2
Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic... OMIM:616734
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Long fi... OMIM:256040
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Witteveen-Kolk Syndrome
Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, Short thumb, Small ... OMIM:613406
Fraser Syndrome 2
Microphthalmia, Cutaneous syndactyly OMIM:617666
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Bohring-Opitz Syndrome
Metacarpophalangeal joint contracture, Recurrent respiratory infections, Abnormal cardiac septum ... ORPHA:97297
Holoprosencephaly 9
Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Tapered finger, Lens coloboma, ... OMIM:619539
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Anophthalmia, Bilateral microphthalmos, Aplasia/Hypoplasia of th... OMIM:219000
Fraser Syndrome
Finger syndactyly, Anophthalmia, Toe syndactyly, Abnormal lung lobation, Pulmonary hypoplasia, Mi... ORPHA:2052
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Camptodactyly of finger, Optic nerve hypoplasia, 4-5 finger syndactyly, Bi... ORPHA:468631
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Isolated Arrhinia
Microphthalmia ORPHA:1134
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hypoplasia ... OMIM:175780
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Bilateral microphthalmos, Stenosis of the medullary c... ORPHA:93325
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Pneumonia, Left atrial enlargement, Cardiomegaly, Spleno... OMIM:619991
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Short middle phalanx of finge... OMIM:607932
Microphthalmia, Syndromic 1
Syndactyly, Anophthalmia, Bicuspid aortic valve, Down-sloping shoulders, Clinodactyly, Pulmonary ... OMIM:309800
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Hip dislocation, Genu valgum, Finger swelling, Microphthalmia OMIM:309000
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Venous insufficiency ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Juvenile Polyposis Syndrome
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... ORPHA:2929
Holoprosencephaly 1
Microphthalmia, Single ventricle OMIM:236100
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Treacher Collins Syndrome 1
Bilateral microphthalmos, Abnormal heart morphology OMIM:154500
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Lipodystrophy, Familial Partial, Type 7
Pleural effusion, Spontaneous pneumothorax, Pulmonary arteriovenous malformation OMIM:606721
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Branchiooculofacial Syndrome
Anophthalmia, Proximal placement of thumb, Short thumb, Preaxial hand polydactyly, Clinodactyly o... OMIM:113620
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... ORPHA:116
Holoprosencephaly 2
Microphthalmia, Single ventricle OMIM:157170
Imerslund-Grasbeck Syndrome 2
OMIM:618882
Imerslund-Gräsbeck Syndrome
ORPHA:35858

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Amn

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Amn.

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

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MGI Allele Allele Type Produced
Amntm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Amntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Amntm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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