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 |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Microphthalmi... |
ORPHA:1587 |
Treacher-Collins Syndrome |
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Microphthalmia, Patent ductus arteriosus |
ORPHA:861 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... |
OMIM:600376 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Microphthalmia, Broad hallux, Arachnodactyly, Short finger |
OMIM:601552 |
Oculoauricular Syndrome |
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Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
Microphthalmia With Linear Skin Defects Syndrome |
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Anophthalmia, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, ... |
ORPHA:2556 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia |
OMIM:110100 |
Fanconi Anemia, Complementation Group L |
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Absent radius, Microphthalmia, Absent thumb |
OMIM:614083 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic... |
OMIM:616734 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Long fi... |
OMIM:256040 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Pierson Syndrome |
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Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Witteveen-Kolk Syndrome |
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Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, Short thumb, Small ... |
OMIM:613406 |
Fraser Syndrome 2 |
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Microphthalmia, Cutaneous syndactyly |
OMIM:617666 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2250 |
Bohring-Opitz Syndrome |
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Metacarpophalangeal joint contracture, Recurrent respiratory infections, Abnormal cardiac septum ... |
ORPHA:97297 |
Holoprosencephaly 9 |
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Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Hyperextensibility of the finger joints, Tapered finger, Lens coloboma, ... |
OMIM:619539 |
Fraser Syndrome 1 |
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Aplasia/Hypoplasia of the thumb, Anophthalmia, Bilateral microphthalmos, Aplasia/Hypoplasia of th... |
OMIM:219000 |
Fraser Syndrome |
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Finger syndactyly, Anophthalmia, Toe syndactyly, Abnormal lung lobation, Pulmonary hypoplasia, Mi... |
ORPHA:2052 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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2-5 finger syndactyly, Camptodactyly of finger, Optic nerve hypoplasia, 4-5 finger syndactyly, Bi... |
ORPHA:468631 |
Linear Nevus Sebaceus Syndrome |
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Microphthalmia |
ORPHA:2612 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hypoplasia ... |
OMIM:175780 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Cortical thickening of long bone diaphyses, Bilateral microphthalmos, Stenosis of the medullary c... |
ORPHA:93325 |
Liver Disease, Severe Congenital |
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Hepatomegaly, Ventricular septal defect, Pneumonia, Left atrial enlargement, Cardiomegaly, Spleno... |
OMIM:619991 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Short middle phalanx of finge... |
OMIM:607932 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Anophthalmia, Bicuspid aortic valve, Down-sloping shoulders, Clinodactyly, Pulmonary ... |
OMIM:309800 |
Holoprosencephaly 7 |
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Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Abetalipoproteinemia |
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Hepatomegaly, Cardiomegaly |
ORPHA:14 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Hip dislocation, Genu valgum, Finger swelling, Microphthalmia |
OMIM:309000 |
Norrie Disease |
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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 |
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Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Juvenile Polyposis Syndrome |
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Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Holoprosencephaly 1 |
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Microphthalmia, Single ventricle |
OMIM:236100 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia |
OMIM:603457 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos, Abnormal heart morphology |
OMIM:154500 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Lipodystrophy, Familial Partial, Type 7 |
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Pleural effusion, Spontaneous pneumothorax, Pulmonary arteriovenous malformation |
OMIM:606721 |
Frontofacionasal Dysplasia |
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Microphthalmia |
OMIM:229400 |
Branchiooculofacial Syndrome |
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Anophthalmia, Proximal placement of thumb, Short thumb, Preaxial hand polydactyly, Clinodactyly o... |
OMIM:113620 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
Holoprosencephaly 2 |
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Microphthalmia, Single ventricle |
OMIM:157170 |
Imerslund-Grasbeck Syndrome 2 |
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OMIM:618882 |
Imerslund-Gräsbeck Syndrome |
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ORPHA:35858 |