Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... |
OMIM:231060 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... |
ORPHA:3400 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... |
OMIM:600884 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... |
ORPHA:90308 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atria... |
ORPHA:3304 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... |
OMIM:601927 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Cleft palate, High palate, Arthrogryposis multiplex congenita, Nemalin... |
OMIM:615731 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Neurocardiofaciodigital Syndrome |
|
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:619869 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss... |
OMIM:617022 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... |
ORPHA:3426 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Muscular ventricular septal defect |
OMIM:620062 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619048 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave... |
ORPHA:90064 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Birk-Aharoni Syndrome |
|
Cryptorchidism, Muscular ventricular septal defect, Macrocytic anemia |
OMIM:620071 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... |
OMIM:220210 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... |
OMIM:614096 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Primum atrial septal defect |
OMIM:615272 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... |
ORPHA:363705 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... |
OMIM:619657 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Pallor, Ol... |
ORPHA:163596 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Cleft palate, Coarctation of aorta, Per... |
OMIM:600987 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Coarctatio... |
ORPHA:101028 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... |
ORPHA:563 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Biliary atresia, Dextrotransposition of the great arteries, Atrial ... |
OMIM:306955 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect, High palate, Campto... |
OMIM:618804 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo... |
OMIM:611376 |
Fetal Minoxidil Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:1918 |
Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Global systolic dysfunction, Abnormal bleeding, Hepatomegaly, Elevated pulmonary ar... |
ORPHA:57777 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardiu... |
ORPHA:2414 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Stroke-like episode, Abnormal left vent... |
OMIM:540000 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasia, Patent foramen oval... |
OMIM:600001 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Muscular ventricular septal defect, Patent ductus arteriosus, Velopharyngeal insufficiency, Abnor... |
ORPHA:363444 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Perimembranous ventricular septal def... |
OMIM:608104 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Duodenal atresia, Abnormal aortic morphology, Abnormal tricuspid valve... |
ORPHA:3405 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Congenital Myopathy 11 |
|
Elevated hepatic transaminase, Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Pa... |
OMIM:619967 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Cardiomyopathy, Hepatic fi... |
OMIM:613313 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... |
OMIM:617877 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, High palate, Hypoplasia of the thymus, Atrioventricular canal defect, Median ... |
ORPHA:40366 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect, High palate |
OMIM:618354 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Abnormal heart m... |
ORPHA:70472 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pericardial effusion, Multiple muscular ventricular septal defects, Limb hypertonia, High palate,... |
OMIM:620070 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... |
OMIM:616166 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, High palate, Pulmonic stenosis |
OMIM:618205 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection, Striae distensae, Mitral valve prolapse |
OMIM:604308 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:206546 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:608099 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis, Adrenal insufficiency |
ORPHA:251076 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... |
OMIM:208000 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal jugular vein morphology, Edema of the dorsum of feet, Increased... |
ORPHA:275766 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... |
ORPHA:137667 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... |
OMIM:618234 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Cleft palate |
OMIM:601355 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cleft palate, Glossoptosis, Atrial septal defect |
ORPHA:1388 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure, Redundant skin |
OMIM:301021 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis, Arrhyt... |
OMIM:602390 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Coarctation of aort... |
OMIM:601186 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology |
OMIM:615542 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Abnorma... |
ORPHA:1166 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Pa... |
ORPHA:3386 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Bacterial endocardit... |
ORPHA:1054 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Poly... |
ORPHA:367 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe... |
OMIM:614262 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... |
ORPHA:2326 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidis... |
OMIM:615524 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Ascites |
OMIM:269920 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Hypertension, Hepatic steatosis, Premature coron... |
OMIM:615703 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... |
OMIM:618316 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Congestive ... |
ORPHA:91131 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Mmep Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:3434 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... |
OMIM:611126 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Cleft palate, Ectopic anus |
ORPHA:2476 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Sup... |
OMIM:618164 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Sandhoff Disease |
|
Hepatomegaly, Cherry red spot of the macula, Congestive heart failure |
ORPHA:796 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:324588 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Telangiectas... |
OMIM:235200 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural... |
ORPHA:330001 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... |
OMIM:243150 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc... |
OMIM:618652 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft palate |
OMIM:616898 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... |
OMIM:253250 |
Mitral Valve Prolapse 1 |
|
Mitral regurgitation, Striae distensae, Mitral valve prolapse |
OMIM:157700 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Congestive heart failure, Polyhydramnios |
ORPHA:500533 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter, Cryptorchidism |
OMIM:616816 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Abnormal intrahepa... |
ORPHA:363618 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophagea... |
ORPHA:1923 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy... |
OMIM:616866 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Non-Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141179 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab... |
ORPHA:3099 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do... |
OMIM:614886 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Sotos Syndrome |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arte... |
OMIM:117550 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis |
OMIM:618624 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse, Stroke, Arrhythmi... |
ORPHA:230839 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ... |
OMIM:612946 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Narrow palate, Perimemb... |
OMIM:158170 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... |
OMIM:609008 |
Okamoto Syndrome |
|
Redundant neck skin, Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial... |
ORPHA:2729 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Anter... |
OMIM:309801 |
Butyrylcholinesterase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Abnormality of the liver, Congestive heart... |
ORPHA:132 |
Mitral Valve Prolapse 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:610840 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Congestive heart failure, Abnormal aortic valv... |
ORPHA:1194 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardiomyopathy, Hypochromic... |
ORPHA:66634 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Poly... |
OMIM:301056 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... |
OMIM:619227 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... |
OMIM:615355 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukopenia, Lymphopenia |
OMIM:620210 |
Rapidly Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141184 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ... |
ORPHA:244 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Dehydration, Abnorm... |
ORPHA:1667 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... |
OMIM:301500 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... |
OMIM:616652 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Anal atresia |
ORPHA:3469 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Atrial ... |
ORPHA:2847 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h... |
OMIM:605676 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... |
ORPHA:228410 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyopathy |
ORPHA:848 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ectopic anus, Ventricular septal defect, Cleft palate |
ORPHA:94066 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... |
ORPHA:2209 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Striae distensae, Mitral valve prolapse |
OMIM:130020 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Abnormal aortic morphology, Truncus... |
ORPHA:2516 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Polyhydramnios, Oligohydramnios |
ORPHA:3033 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy |
OMIM:606703 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Striae distensae, Angina pectoris, ... |
ORPHA:758 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Classic Multiminicore Myopathy |
|
Congestive heart failure, Mitral valve prolapse, Right ventricular failure, Right ventricular hyp... |
ORPHA:324604 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:230500 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Pallor |
ORPHA:46532 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... |
ORPHA:2331 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Striae distensae, Bruising susceptibility, Petechiae, Mitral valve prolapse |
OMIM:225310 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Hepatic fibrosis, Truncu... |
OMIM:616589 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect |
OMIM:613870 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, Dextrocardia |
ORPHA:2863 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Coarctat... |
OMIM:616145 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morphology, Double outlet... |
ORPHA:163956 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Polyhydramnios |
OMIM:616794 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Transposition of the great arteries, Neonatal death, Atrioventricul... |
OMIM:314390 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... |
OMIM:249270 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
Refsum Disease, Classic |
|
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Cardiomyopa... |
OMIM:266500 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, Pe... |
OMIM:612541 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Cutis ... |
OMIM:123700 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Down Syndrome |
|
Redundant neck skin, Ventricular septal defect, Complete atrioventricular canal defect, Patent du... |
OMIM:190685 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Congestive heart failure, Prominent veins on trunk, Hypertension, Cirrhosis, Hypert... |
ORPHA:79083 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Cryptorchidism, Esophageal atresia, Pyloric stenosis... |
OMIM:101200 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d... |
OMIM:615508 |
Halperin-Birk Syndrome |
|
Flexion contracture, High palate, Perimembranous ventricular septal defect, Congenital diaphragma... |
OMIM:618651 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly, Pallor |
ORPHA:99931 |
Cednik Syndrome |
|
Congestive heart failure, Stroke |
ORPHA:66631 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, High, narrow palate, Narrow pala... |
OMIM:615102 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen... |
OMIM:616564 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Skin ulcer, Cerebral ischemia, Aortic ... |
ORPHA:397 |
Optic Atrophy 8 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:616648 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Micronodular cirrhosis, Patent ductus arteriosus, Hepato... |
OMIM:606003 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Mitral valve prolapse, Hypertension, Mitral regurgitation, Cerebral berry aneurysm |
OMIM:173900 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Palmoplantar cutis laxa |
OMIM:618499 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Coronary ... |
ORPHA:2348 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula |
OMIM:619083 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... |
ORPHA:75249 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextroca... |
OMIM:618280 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect, Hypothyroidism, Intrinsic hand muscle atrophy |
OMIM:618569 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Multiple muscu... |
ORPHA:391641 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Protruding tongue, Secundum atrial septal defect, Splenomegaly, Perimemb... |
OMIM:608779 |
Syndromic Diarrhea |
|
Lymphopenia, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Increased mean pl... |
ORPHA:84064 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate |
OMIM:214300 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Congestive heart f... |
ORPHA:67 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Elevated circulating aspartate aminotransferase concentration, Congestiv... |
OMIM:617253 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Redundant skin, Myocarditis, C... |
ORPHA:3342 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension |
ORPHA:3222 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Eryth... |
ORPHA:727 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis... |
OMIM:618021 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arterial hypertension |
OMIM:300887 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom... |
ORPHA:91139 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, ... |
ORPHA:1926 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis |
ORPHA:1296 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Protruding tongue, Cryptorchidism, Reduced alpha/beta synthesis ratio,... |
OMIM:301040 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... |
OMIM:612422 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary ven... |
ORPHA:1120 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Jaundice, Patent ductus arteriosus, Atrial septal defect... |
ORPHA:290 |
Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Ventricular septal defect |
OMIM:314320 |
Alagille Syndrome 2 |
|
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te... |
OMIM:610205 |
Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Congestive heart failure, Stillbirth, Pulmonary arterial hypertension |
OMIM:619751 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... |
ORPHA:183 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion, ... |
ORPHA:1666 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Cleft palate, Abnormal heart morphology, Hypoplasia of the thymus, Camptodactyly,... |
OMIM:214110 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
Short Stature And Facioauriculothoracic Malformations |
|
High palate, Ventricular septal defect, Cleft palate |
OMIM:609654 |
Aase-Smith Syndrome I |
|
Flexion contracture, Ventricular septal defect, Cleft palate |
OMIM:147800 |
Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Intestinal malrotation, Cryptorchidism, Muscular ve... |
ORPHA:79324 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Thrombocytopenia, Leukopenia, High palate, Atrial septal defect, Hypot... |
OMIM:620184 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor |
OMIM:609053 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Ventricular septal defect |
ORPHA:3369 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... |
ORPHA:3097 |
Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:607598 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Congestive heart failure, Ca... |
ORPHA:465508 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral regurgitation, Bruising susceptibility, Mitral valve prolapse |
OMIM:225320 |
Cap Myopathy |
|
Aortic root aneurysm, Reduced systolic function, Sinus tachycardia, Mitral valve prolapse |
ORPHA:171881 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Hypotension, ... |
OMIM:615668 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Excessive wrinkled skin, Arteriovenous malformation |
ORPHA:137608 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal bleeding, Abnormal circulating enzyme concentration or activity, Congestive heart failur... |
ORPHA:1900 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... |
OMIM:601808 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Conge... |
ORPHA:52430 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Peau d'orange, Ventricular septal... |
OMIM:614576 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Hydrops fetalis, H... |
ORPHA:354 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H... |
OMIM:301043 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:614679 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure... |
ORPHA:33226 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate... |
OMIM:605275 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo... |
OMIM:618494 |
Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Mitral valve prolapse |
ORPHA:908 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Congenital diaphragmatic hernia, Cleft palate, Coarctation of aorta, Submucous clef... |
OMIM:301022 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Intestinal atresi... |
ORPHA:436252 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Lymphedema, Intracranial hemorrhage, Pallor, Bruising susc... |
ORPHA:3226 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse |
OMIM:211960 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Prominent superficial veins, Congestive heart failure, Cirrhosis, Hypertrophic card... |
ORPHA:528 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Elevated alkaline phosphatase of bone origin, Mitral valve prolapse |
OMIM:619543 |
Camurati-Engelmann Disease, Type 2 |
|
Elevated circulating alkaline phosphatase concentration, Mitral regurgitation, Mitral valve prolapse |
OMIM:606631 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... |
ORPHA:555877 |
Fumarase Deficiency |
|
High palate, Necrotizing enterocolitis, Perimembranous ventricular septal defect, Polycythemia |
OMIM:606812 |
Immune-Mediated Necrotizing Myopathy |
|
Raynaud phenomenon, Myocarditis, Palpitations, Congestive heart failure |
ORPHA:206569 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... |
OMIM:176670 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Biliary cirrhosis, Cholest... |
OMIM:267010 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta |
OMIM:618929 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Increased nuchal translucency, Mitral regurgitation, Hepatic fibrosis, S... |
OMIM:619879 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect, Cleft palate |
OMIM:617616 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... |
OMIM:264480 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ... |
ORPHA:97214 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Woods Syndrome |
|
Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Neonatal death, Atrial septal defe... |
OMIM:265380 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Elevated circulating ... |
OMIM:613095 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse |
ORPHA:2233 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal circulating enzyme concentration or activity |
ORPHA:51208 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Ventricular septal defect... |
OMIM:208085 |
Evans Syndrome |
|
Epistaxis, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Abnormali... |
ORPHA:139466 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Ventricular septal defect |
OMIM:613730 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Cleft palate, Ectopic anus, Anal atresia |
ORPHA:2345 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Abnormal heart morphology,... |
ORPHA:26791 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Oligohydramnios, Polyhydramnios, Aortic regurgitation |
OMIM:615476 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... |
ORPHA:774 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia |
OMIM:618063 |
Joubert Syndrome 18 |
|
Lobulated tongue, Ventricular septal defect, Cleft palate, Camptodactyly |
OMIM:614815 |
Maternal Uniparental Disomy Of Chromosome X |
|
Congestive heart failure, Hepatic failure, Predominantly lower limb lymphedema |
ORPHA:261519 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Aortic root aneurysm |
OMIM:301039 |
Sandhoff Disease, Infantile Form |
|
Reduced beta-hexosaminidase activity, Hepatosplenomegaly, Mitral valve prolapse, Mitral regurgita... |
ORPHA:309155 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... |
ORPHA:500 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ... |
OMIM:203800 |
King-Denborough Syndrome |
|
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, ... |
OMIM:619542 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, ... |
OMIM:232500 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse |
ORPHA:2183 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Pallor |
ORPHA:75563 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great a... |
OMIM:619995 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Cholestasis, Cardiomyopathy, Mitral regurgitat... |
ORPHA:746 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury... |
OMIM:614816 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Angina pectoris, Abnormal ca... |
ORPHA:565612 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular septal defect, Coarctation o... |
ORPHA:508498 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Lymphedema, Pulmonary lymphangiectasia, Mitral valve prolapse |
OMIM:247410 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypothyroidism |
OMIM:619908 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, P... |
ORPHA:2519 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... |
OMIM:612863 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... |
ORPHA:70591 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... |
OMIM:618775 |
Prune Belly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Apla... |
ORPHA:2970 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Hepatomegaly, Coronary artery atherosclerosis, Abnormal atrioventric... |
ORPHA:280365 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Precocious puberty, Cryptorchidism, Hypogonadism, High palate, Tetralo... |
ORPHA:3306 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Lack of skin elast... |
OMIM:608328 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Persistence of hemoglobin F, ... |
OMIM:619769 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Edema, Jaundice, Dilated cardiomyopa... |
ORPHA:20 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... |
OMIM:300845 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... |
ORPHA:261311 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Pallor |
ORPHA:517 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Cle... |
OMIM:600460 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... |
OMIM:616843 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Redundant skin, Congestive heart failure, Cutis laxa, Right bundle branc... |
OMIM:617403 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Accessory spleen, Adre... |
OMIM:613177 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Redundant skin, Cong... |
ORPHA:90349 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Congestive heart failure, Left ventricular hypertrophy, Hepatic fa... |
OMIM:619355 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Pulmonary edema, Elevated circulating aspartate aminotransferas... |
ORPHA:466677 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Jaundice, Dilated cardiomyopathy, Skin ulcer, Chronic hepat... |
ORPHA:231226 |
Frank-Ter Haar Syndrome |
|
Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola... |
OMIM:249420 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Flexion contracture, Aortic i... |
OMIM:180849 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Congestive heart failure, Patent ductus arteriosus, Macrovesicular hepatic steatosi... |
OMIM:617303 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot |
OMIM:613630 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia |
ORPHA:2257 |
Warsaw Breakage Syndrome |
|
High palate, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... |
ORPHA:230851 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Hereditary Spherocytosis |
|
Hepatomegaly, Jaundice, Skin ulcer, Pallor, Restrictive cardiomyopathy, Cholelithiasis |
ORPHA:822 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... |
OMIM:609942 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia |
ORPHA:157973 |
Babesiosis |
|
Hepatomegaly, Myocardial infarction, Congestive heart failure, Jaundice, Hepatic failure |
ORPHA:108 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... |
OMIM:188400 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Iron defic... |
OMIM:300855 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch |
OMIM:614846 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d... |
OMIM:612562 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neut... |
OMIM:169400 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal tr... |
OMIM:618870 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia... |
ORPHA:251071 |
Costello Syndrome |
|
Ventricular septal defect, Redundant skin, Polyhydramnios, Lack of skin elasticity, Mitral valve ... |
ORPHA:3071 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pulmonic steno... |
OMIM:608149 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Transient ischemic attack, Cholangitis, Supraventricular arrhythmi... |
ORPHA:3260 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm... |
OMIM:192430 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615482 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Mitral regurgitation, Neonatal d... |
OMIM:620244 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia |
ORPHA:85446 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Decreased liver function, Elevated hepatic transaminase |
OMIM:615160 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta |
ORPHA:2876 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Cleft palate |
ORPHA:398156 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Cryptorchidism, Patent ductus ar... |
ORPHA:452 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Bruising susceptibility, Arterial rupture, Dermal translucency |
OMIM:619115 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect |
OMIM:601357 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity, Congestive he... |
OMIM:229300 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cardiomegaly, Elevated circu... |
ORPHA:308552 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Ascending aorta hypoplasia, Flexion contra... |
OMIM:619503 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:280000 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Patent ... |
ORPHA:99776 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... |
ORPHA:1335 |
Cardiospondylocarpofacial Syndrome |
|
Mitral regurgitation, Mitral valve prolapse |
ORPHA:3238 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Abnorma... |
ORPHA:505248 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Cleft pal... |
OMIM:612938 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia |
OMIM:606763 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
Nephrotic Syndrome, Type 11 |
|
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate |
OMIM:616730 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation |
ORPHA:53721 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Redundant skin, Carotid artery stenosis, Mitral valve prolapse, Aort... |
OMIM:618000 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Cr... |
OMIM:300963 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop... |
ORPHA:892 |
Fabry Disease |
|
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... |
ORPHA:324 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a... |
ORPHA:2008 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal prolapse, Atri... |
ORPHA:904 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Situs inversus totalis |
OMIM:619881 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification... |
OMIM:231005 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Cleft palate, Pulmonic stenosis, Camptodacty... |
OMIM:619123 |
Central Core Disease |
|
Mitral valve prolapse |
ORPHA:597 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
Ogden Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Cutis laxa, Cardiogenic shock, Arrhythmia |
ORPHA:276432 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Bruising susceptibility, Quadricuspid aortic valve, Striae distensae, Mitral valve prolapse |
OMIM:606408 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure, Stroke |
ORPHA:3077 |
Orofaciodigital Syndrome V |
|
Unilateral cryptorchidism, Ventricular septal defect, Hamartoma of tongue, Aganglionic megacolon,... |
OMIM:174300 |
Immunodeficiency 9 |
|
Myopathy, Hypoplasia of the thymus |
OMIM:612782 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Lack of skin elasticity, Aortic valve... |
OMIM:231050 |
Atransferrinemia |
|
Congestive heart failure, Abnormality of the liver |
OMIM:209300 |
Stickler Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:90653 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
Beta-Thalassemia Major |
|
Hepatomegaly, High-output congestive heart failure, Jaundice, Dilated cardiomyopathy, Skin ulcer,... |
ORPHA:231214 |
Carney Complex, Type 1 |
|
Cardiac myxoma, Congestive heart failure |
OMIM:160980 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Velopharyngeal insufficiency |
OMIM:613680 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Cleft palate, Atrial septal defect, Bifid uvula, Hypomimic face |
OMIM:608572 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:619607 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Pa... |
OMIM:105650 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Ascites, Mitral regurgitation, Mitral valve prolapse |
ORPHA:2848 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Cleft... |
ORPHA:2473 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morph... |
ORPHA:124 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Pyloric stenosis |
OMIM:218350 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Ventricular sept... |
ORPHA:26793 |
Marfan Syndrome |
|
Mitral valve calcification, Congestive heart failure, Descending aortic dissection, Dilatation of... |
ORPHA:558 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Lymphedema |
OMIM:223350 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosu... |
OMIM:617159 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Porta... |
ORPHA:824 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate |
OMIM:619895 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Polyhydramnios, Abnormal heart morphology |
ORPHA:254534 |
Noonan Syndrome 13 |
|
Lymphedema, Dry skin, Mitral valve prolapse, Mitral regurgitation, Atrial septal defect, Bruising... |
OMIM:619087 |
Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Ventricular septal defect |
OMIM:602501 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, Hypothyroidism, ... |
ORPHA:567 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Decreased methionine synthase activity, Dextrocardia, Patent ductus arteriosus, Atr... |
OMIM:277380 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ... |
ORPHA:31824 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Camptodac... |
OMIM:619980 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Dilated cardiomyopathy, Ch... |
OMIM:615895 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:618504 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:2256 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation |
ORPHA:2328 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Congestive heart failure, Hepatitis, Renovascular hyperte... |
ORPHA:391487 |
Leishmaniasis |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Skin ulcer, Pallor |
ORPHA:507 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect, Eosinophilia, Splenomeg... |
OMIM:616651 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Bile duct proliferation, Ventricular septal defect, Cleft palate |
OMIM:611134 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Adrenal hypoplasia, Intestinal malro... |
ORPHA:7 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Jaundice, Skin ulce... |
ORPHA:231222 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Dermal translucency, Redundant neck skin, Redundant skin, Congestive heart ... |
ORPHA:90348 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft pala... |
OMIM:611812 |
Congenital Contractural Arachnodactyly |
|
Aortic aneurysm, Mitral valve prolapse |
ORPHA:115 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Decreased iduronate sulfatase level, Abnormal heart valve morphology, Congestive he... |
OMIM:309900 |
Alg3-Cdg |
|
Cardiomyopathy, Decreased liver function, Coarctation of the descending aortic arch, Abnormal cir... |
ORPHA:79321 |
Fragile X Syndrome |
|
Mitral valve prolapse |
OMIM:300624 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Werner Syndrome |
|
Telangiectasia of the skin, Abnormal cerebral vascular morphology, Myocardial infarction, Congest... |
ORPHA:902 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus... |
OMIM:613686 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Hepatomegaly, Pallor, Congestive heart failure |
ORPHA:75564 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft palate |
ORPHA:261190 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Abnormal cardiac septum morphology, Erythema, Single ventricle |
OMIM:308050 |
Esophageal Atresia |
|
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Pallor, Tetralogy of Fallot |
ORPHA:1199 |
Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615444 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... |
OMIM:603554 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart |
ORPHA:2001 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Patent foramen ovale, Transposition of the great arteries, Cryptorchidism |
OMIM:616789 |
Seckel Syndrome 9 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Polyhydramnios |
OMIM:616777 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries |
OMIM:313850 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... |
OMIM:619472 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... |
OMIM:609029 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate |
ORPHA:52055 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Biliary hyperplasia, Contracture of the distal interphalangeal joint of... |
ORPHA:83617 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve pro... |
OMIM:602782 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... |
OMIM:300166 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Polyhydramnios, Thyroid lymphangiec... |
OMIM:235255 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Cryptorchidism, Muscula... |
OMIM:210710 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... |
ORPHA:90307 |
Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect |
OMIM:272440 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal plate, Situs inversus total... |
OMIM:208540 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosi... |
ORPHA:2712 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Bruising susceptibility, Mitral valve prolapse |
OMIM:130000 |
Marfan Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, M... |
OMIM:154700 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... |
OMIM:618748 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... |
OMIM:618027 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp... |
OMIM:617506 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Pallor, Jaundice |
ORPHA:90033 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:615631 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Polyhydramnios |
ORPHA:261272 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Cleft palate, Atrial septal defect, Patent foramen ovale, Right ventri... |
OMIM:614261 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
Heart And Brain Malformation Syndrome |
|
Polyhydramnios, Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia |
ORPHA:1908 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypergonadotropic hypogonadism, Ventricular septal defect, Esophageal atresia, P... |
OMIM:300514 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Edema, Jaundice, Bradycardia, Decreased liver funct... |
ORPHA:90051 |
Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia |
OMIM:614294 |
Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Heart murmur, Mitral valve prolap... |
ORPHA:284979 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Jau... |
OMIM:613404 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... |
ORPHA:435638 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Stroke, Hepatic steatosis, Myocardial infarction, Mitral valve prolapse |
OMIM:236200 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Congestive heart failure, Jaund... |
ORPHA:525731 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Dilatation o... |
ORPHA:730 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Polyhydramnios, Dry skin, Mitral valve prolapse, Pulmonic stenosis, Hypertr... |
OMIM:619745 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Oligohyd... |
ORPHA:96201 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... |
OMIM:612582 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal de... |
OMIM:610733 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia |
ORPHA:2143 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital... |
ORPHA:974 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Congestive heart failure, Hypertension, Arteriosclerosis of small cere... |
ORPHA:1830 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pleural effusion, Hyper... |
OMIM:616897 |
Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema, Mitral valve prolapse |
ORPHA:1563 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Nonimmune hydrops fetalis, Reduced red cell pyruvate kinase level, Jaundice, Cholec... |
OMIM:266200 |
Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Congestive heart failure, Joint swelling, Abnormal aortic valve ... |
ORPHA:35687 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration, Pallor |
OMIM:613839 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating alkaline phosphata... |
ORPHA:263455 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morpholog... |
ORPHA:96147 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension, Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
Emanuel Syndrome |
|
Redundant neck skin, Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pul... |
ORPHA:96170 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology |
ORPHA:261197 |
Johanson-Blizzard Syndrome |
|
Abnormal cardiac septum morphology, Dextrocardia, Edema |
ORPHA:2315 |
Beck-Fahrner Syndrome |
|
High palate, Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragm... |
OMIM:613309 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Rectovagin... |
ORPHA:1780 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect |
OMIM:615879 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
Trisomy 13 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis |
ORPHA:3378 |
Wrinkly Skin Syndrome |
|
Scapular winging, Hypoplasia of the musculature, Cryptorchidism, Muscular ventricular septal defe... |
OMIM:278250 |
Osteogenesis Imperfecta, Type I |
|
Bruising susceptibility, Aortic aneurysm, Mitral valve prolapse |
OMIM:166200 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Redundant skin, Pulmonary artery stenosis, Patent ductus arteriosus, A... |
ORPHA:96167 |
Senior-Loken Syndrome 8 |
|
Vascular dilatation, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Arthrogryposis-like hand an... |
ORPHA:369891 |
Brittle Cornea Syndrome 1 |
|
Palmoplantar cutis laxa, Mitral valve prolapse |
OMIM:229200 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated... |
ORPHA:171 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Mitral valve prolapse |
ORPHA:98 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Cleft palate, Polycystic ovaries |
ORPHA:1770 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Pallor, Pulmonary a... |
ORPHA:667 |
Trisomy 1Q |
|
Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosu... |
ORPHA:261344 |
Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Cryptorchidism, High palate, Atrial septal defect, Patent foramen ovale |
OMIM:618950 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atresia, Patent foramen ova... |
OMIM:620113 |
Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Ventricular septal defect, Camptodactyly |
OMIM:113000 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal ... |
ORPHA:579 |
Galloway-Mowat Syndrome 7 |
|
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate |
OMIM:618348 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidis... |
OMIM:617602 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Cryptorchidism, Paten... |
OMIM:244300 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve steno... |
OMIM:614185 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival ble... |
ORPHA:98870 |
Martsolf Syndrome 1 |
|
Cardiomyopathy, Cardiac arrest, Congestive heart failure |
OMIM:212720 |
Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragma... |
ORPHA:1488 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Mitral valve prolapse, Hypertension, Aortic root aneurysm, Bruising susceptibility, Oligohydramnios |
OMIM:616914 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Esophageal atresia, Tracheoe... |
ORPHA:77298 |
Frank-Ter Haar Syndrome |
|
Mitral valve prolapse |
ORPHA:137834 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti... |
OMIM:300989 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Fg Syndrome Type 1 |
|
Facial wrinkling, Coarctation of aorta, Mitral valve prolapse, Atrial septal defect, Pulmonary ar... |
ORPHA:93932 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... |
ORPHA:73224 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:145420 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cholestasis, Hypertension, R... |
ORPHA:52 |
Mgat2-Cdg |
|
Abnormal bleeding, Ventricular septal defect, Reduced level of N-acetylglucosaminyltransferase II... |
ORPHA:79329 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Clef... |
ORPHA:457193 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Dry skin |
ORPHA:508542 |
8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Tetralogy of Fallot, Dextrocardia, Abnormal heart morphology |
ORPHA:96092 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, High-output congestive heart failure, Cardiomyocyte mitochondrial prolifer... |
ORPHA:423 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Fryns Syndrome |
|
Polyhydramnios, Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Abnormal aor... |
ORPHA:2059 |
Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Ventricular septal defect, Congestive hear... |
ORPHA:506 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Tracheoesophageal fistula, Cleft palate, Glossoptosis, ... |
ORPHA:861 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Edema, Dehydration, Hypertension, Pallor, Hypotension |
ORPHA:134 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aort... |
OMIM:620025 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, High palate, Bifid... |
OMIM:300472 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Tetralog... |
OMIM:201000 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Cryptorchidism, Flexion contracture, High palate, Atrial septal defect |
OMIM:617452 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Xerostomia, Skin ulcer, Pulmonary arterial ... |
ORPHA:220393 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... |
OMIM:100300 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Aarskog-Scott Syndrome |
|
Congestive heart failure |
ORPHA:915 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Distal Triplication 15Q |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology |
ORPHA:314588 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ... |
ORPHA:457279 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur |
ORPHA:166035 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal diabetes |
ORPHA:563609 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Ventricular septal defect |
OMIM:610832 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct... |
ORPHA:141127 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Polyhydramnios, Pancreatic lymphang... |
ORPHA:1655 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... |
OMIM:614114 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Redundant skin, Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral v... |
ORPHA:536532 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Nonimmune hydrops fetalis |
OMIM:166210 |
Fanconi Anemia, Complementation Group E |
|
Bruising susceptibility, Anemic pallor, Abnormal heart morphology |
OMIM:600901 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... |
ORPHA:444077 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Pallor |
OMIM:272800 |
Atypical Werner Syndrome |
|
Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebral vascular morphology, A... |
ORPHA:79474 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal heart m... |
ORPHA:404440 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cardiomyopathy, Mitral regurgitation, Mitral valve prolapse |
OMIM:258450 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Cleft palate, Skeletal muscle hypertrophy, High palate |
OMIM:617164 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Pedal edema, Palpitations |
ORPHA:86839 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
De Barsy Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... |
ORPHA:2962 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, C... |
OMIM:619488 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... |
ORPHA:348 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Decreased muscle mass, Ventricular septal defect, Cleft soft palate, Eosinophil... |
OMIM:615582 |
Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... |
OMIM:611174 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse |
ORPHA:251066 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Cholestasis, Mitral valve prolapse, Pulmonary arterial hyp... |
OMIM:620233 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol... |
ORPHA:1708 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Fanconi Anemia, Complementation Group A |
|
Bruising susceptibility, Anemic pallor, Abnormal heart morphology |
OMIM:227650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, Ventricular septal defect, Flexion contracture, Ascending tubular aorta aneurysm,... |
OMIM:309520 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... |
OMIM:620024 |
Leopard Syndrome 1 |
|
Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ... |
OMIM:151100 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Limb joint contracture, Ventricular septal defect, Cryptorchidism, High palate, Atrial septal defect |
ORPHA:505237 |
Infection-Related Hemolytic Uremic Syndrome |
|
Edema, Myocarditis, Hypertension, Pleural empyema, Pallor, Hypertensive crisis, Generalized edema |
ORPHA:544482 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Subvalvular aortic stenosis |
OMIM:619461 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Cardiomyopathy, Cholecysti... |
ORPHA:98908 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Vasculitis... |
ORPHA:906 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Avian Influenza |
|
Elevated hepatic transaminase, Congestive heart failure, Hepatitis, Increased circulating lactate... |
ORPHA:454836 |
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 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arrh... |
ORPHA:254346 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure |
OMIM:275000 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
19P13.3 Microduplication Syndrome |
|
Precocious puberty, Cleft palate, Ventricular septal defect, Unilateral cryptorchidism |
ORPHA:447980 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect |
OMIM:615673 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Redundant skin, Congestive heart failure, Palmoplantar cutis laxa, Neonatal death, Pulmonary arte... |
OMIM:616482 |
Kury-Isidor Syndrome |
|
High palate, Ventricular septal defect |
OMIM:619762 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Polyhydramnios, Congestive heart failure, Dehydration, Prolonged prothrombin t... |
OMIM:616271 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Cleft palate, Ectopic anus, High palate, Camptodactyly of toe |
ORPHA:251038 |
Ververi-Brady Syndrome |
|
High palate, Transposition of the great arteries |
OMIM:617982 |
Listeriosis |
|
Pericarditis, Liver abscess, Myocarditis, Jaundice, Congestive heart failure, Endocarditis, Hepat... |
ORPHA:533 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Thyroid lymph... |
OMIM:235510 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Abetalipoproteinemia |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Congestive heart fa... |
ORPHA:14 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly |
OMIM:611590 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... |
OMIM:610443 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ... |
ORPHA:100078 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Submucous cleft hard palate, Unilateral cleft palate, ... |
OMIM:619103 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Cutis laxa, Aortic root aneurysm, Atr... |
OMIM:245600 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
C Syndrome |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cutis laxa |
OMIM:211750 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Complete atrioventricular canal defect, Tetralogy of Fallot, Absent gallbladder |
OMIM:617925 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Mitral valve prolapse |
OMIM:104350 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
Insulin-Like Growth Factor I, Resistance To |
|
Diabetes mellitus, Ventricular septal defect, Increased circulating insulin-like growth factor 1 ... |
OMIM:270450 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect |
OMIM:614424 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormal circulating enzyme concentration or activity, Ventricular septal defect, Patent ductus a... |
ORPHA:79345 |
Fanconi Anemia, Complementation Group C |
|
Bruising susceptibility, Ventricular septal defect, Anemic pallor |
OMIM:227645 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P... |
ORPHA:508488 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Polyhydramnios, Microvesicular hepatic steatosis, Congestive heart... |
OMIM:617156 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten... |
ORPHA:85450 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Atrial septal defect, Left vent... |
OMIM:242840 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Increased iduronate sulfatase level, Palpebral edema, Cardiom... |
OMIM:252500 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Mitral valve prolapse... |
OMIM:617402 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:614609 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... |
ORPHA:261494 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Bruising susceptibility, Anemic pallor, Abnormal heart morphology |
OMIM:227646 |
Codas Syndrome |
|
Extrahepatic biliary duct atresia, Ventricular septal defect |
ORPHA:1458 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Facial hypotonia |
ORPHA:85194 |
Tetrasomy 5P |
|
Congestive heart failure, Redundant neck skin, Pulmonary arterial hypertension, Heart murmur |
ORPHA:3309 |
Distal Deletion 19P |
|
Cleft palate, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Cleft palate, Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple |
OMIM:106260 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, P... |
OMIM:182250 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent d... |
OMIM:130720 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... |
ORPHA:85438 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Polyhydramnios, Pulmonary artery ste... |
OMIM:300998 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
Chops Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Splenomegaly, High, narrow p... |
OMIM:616368 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Abnormal left ventricle morphology, Heart murmur, Aplasia/H... |
ORPHA:264450 |
Marden-Walker Syndrome |
|
Dextrocardia |
OMIM:248700 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect |
ORPHA:79243 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta |
OMIM:617260 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism,... |
OMIM:612530 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Esophageal atresia, Ventricular septal defect, Cleft palate |
OMIM:610536 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect |
ORPHA:476126 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated ca... |
OMIM:619573 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... |
OMIM:610978 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Oli... |
ORPHA:96191 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... |
ORPHA:536545 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Cold Agglutinin Disease |
|
Hepatomegaly, Pallor |
ORPHA:56425 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Coarc... |
ORPHA:1692 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Patent ductus arteriosus, Peripor... |
OMIM:269860 |
Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachyca... |
OMIM:181270 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Redundant neck skin, Ventricular septal defect, Polyhydramnios |
OMIM:617360 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Thyroid agenesis, Cryptor... |
ORPHA:3047 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Joint ... |
ORPHA:287 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Jaundice, Hepatic ... |
OMIM:222470 |
Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect, Supernumerary nipple |
ORPHA:3255 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
Cohen Syndrome |
|
Mitral valve prolapse |
OMIM:216550 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Coarctation of aorta |
ORPHA:268249 |
Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Ventricular septal defect, Pedal edema, Mitral valve prolapse |
OMIM:617107 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Decreased pyruvate carboxylase activity, Concentric hyper... |
OMIM:601992 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Pat... |
ORPHA:2745 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... |
OMIM:600268 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... |
ORPHA:31826 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracrani... |
ORPHA:163979 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Cleft palate, Furrowed tongue, High palate, Atrial septal defect |
OMIM:616449 |
Czeizel-Losonci Syndrome |
|
Dextrocardia |
ORPHA:2437 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Erythema, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
Juvenile Polyposis Of Infancy |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Patent ductus arteriosus, Abnormal heart morpholo... |
ORPHA:79076 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplas... |
OMIM:208900 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Oligohydramnios |
ORPHA:411709 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Cleft p... |
OMIM:178110 |
Knobloch Syndrome |
|
Patent ductus arteriosus, Dextrocardia |
ORPHA:1571 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Anemic pallor, Hematochezia, Edema |
ORPHA:329971 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... |
OMIM:611962 |
Restrictive Dermopathy |
|
Dextrocardia, Polyhydramnios, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transpo... |
ORPHA:1662 |
Neurooculorenal Syndrome |
|
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... |
OMIM:620305 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Edema |
ORPHA:2505 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch,... |
OMIM:300712 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... |
OMIM:602450 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Dry skin, Coa... |
OMIM:163950 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect |
ORPHA:3078 |
19Q13.11 Microdeletion Syndrome |
|
Dry skin, Ventricular septal defect |
ORPHA:217346 |
Joubert Syndrome With Ocular Defect |
|
Dextrocardia |
ORPHA:220493 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... |
OMIM:118450 |
Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Arrhythmia |
ORPHA:682 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic v... |
OMIM:619475 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Ven... |
OMIM:614866 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Dermal translucency, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending... |
OMIM:130050 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Syncope, Pallor, Elevated total serum tryptase, Hypotension |
ORPHA:98849 |
Radio-Tartaglia Syndrome |
|
Dry skin, Ventricular septal defect, Striae distensae |
OMIM:619312 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... |
OMIM:616894 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dermal translucency, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending tubular aorta ane... |
ORPHA:536467 |
Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Xerostomia, Cleft palate, Hypoplasia of th... |
ORPHA:1896 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Erythema, Hydrops fetalis, Macronodular cirrhosis, D... |
OMIM:557000 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ... |
OMIM:605039 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin... |
ORPHA:769 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Congestive heart failure, Pedal edema |
ORPHA:247353 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpuscular vol... |
ORPHA:261250 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia |
ORPHA:140952 |
Zellweger Syndrome |
|
Ventricular septal defect, Malabsorption, Cryptorchidism, Pyloric stenosis, Primary adrenal insuf... |
ORPHA:912 |
Spondyloocular Syndrome |
|
Atrial septal defect, Lymphedema, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Aortic... |
ORPHA:261330 |
Fraser Syndrome 2 |
|
Rectal atresia, Hypoplasia of the thymus, Intestinal malrotation, Anal atresia |
OMIM:617666 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly |
ORPHA:300298 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
Triosephosphate Isomerase Deficiency |
|
Congestive heart failure, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis, O... |
OMIM:615512 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Cleft palate, Atrial septal d... |
ORPHA:261236 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Anasarca |
OMIM:260450 |
Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema |
OMIM:606232 |
Chime Syndrome |
|
Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Transposition of the great ... |
ORPHA:3474 |
Homozygous Familial Hypercholesterolemia |
|
Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo... |
ORPHA:391665 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral cr... |
OMIM:613457 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Rectourethral fistula, Cryptorchidism, Cleft palate, High palate, Anal... |
OMIM:300000 |
Brittle Cornea Syndrome |
|
Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, High palate, Ventricular septal defect, High, narrow palate |
ORPHA:2789 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Pallor |
ORPHA:35858 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Pyloric stenosis, Aplasia of ... |
ORPHA:3138 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... |
OMIM:300967 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Ventricular septal defect |
OMIM:620073 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art... |
ORPHA:51608 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Ventricular septal defect, Decreased re... |
OMIM:146510 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Congestive heart failure, Erythema, Retinal hemorrhage, Skin ulcer, C... |
ORPHA:464 |
Stickler Syndrome, Type I |
|
Mitral valve prolapse |
OMIM:108300 |
Alg9-Cdg |
|
Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Hydrops f... |
ORPHA:79328 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal... |
ORPHA:209905 |
Elliptocytosis 1 |
|
Jaundice, Pallor |
OMIM:611804 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Polyhydramnios |
OMIM:615503 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ... |
ORPHA:1519 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Mitral valve prolapse |
OMIM:618874 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Telangiectasia of the skin, Ventricular septal defect, Patent ductus arter... |
ORPHA:2092 |
Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Pulmonary arterial hypertension, Left superior vena cava draining to c... |
ORPHA:464738 |
Costello Syndrome |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Pulmonic s... |
OMIM:218040 |
Aceruloplasminemia |
|
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Hepatic fibrosis... |
ORPHA:48818 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Ventricular septal defect, Intestinal malrotation, Congenital diaphrag... |
OMIM:222448 |
Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch |
ORPHA:250989 |
Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Cutis la... |
OMIM:614976 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Pa... |
OMIM:214100 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Aortic... |
ORPHA:464311 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Edema of the dorsum of hands, Patent duct... |
OMIM:274000 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonary arterial hyp... |
OMIM:618454 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol... |
ORPHA:2969 |
Holoprosencephaly 1 |
|
Single ventricle |
OMIM:236100 |
Aregenerative Anemia |
|
Abnormal bleeding, Bruising susceptibility, Pallor |
ORPHA:101096 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Raynaud phe... |
ORPHA:3310 |
Kleefstra Syndrome 1 |
|
Macroglossia, Protruding tongue, Conotruncal defect, Cryptorchidism |
OMIM:610253 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Abnormal heart morphology, A... |
ORPHA:1465 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulmonary artery st... |
OMIM:301030 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
3Mc Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Conjunctival telangiec... |
OMIM:257920 |
Cerebrocostomandibular Syndrome |
|
Glossoptosis, Short hard palate, Ventricular septal defect, Cleft palate |
ORPHA:1393 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Erythema, Ar... |
OMIM:256040 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
Diets-Jongmans Syndrome |
|
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Polyhydramnios |
OMIM:618846 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal... |
OMIM:607721 |
Marden-Walker Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... |
ORPHA:2461 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dry skin, Ventricular septal defect |
OMIM:619306 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc... |
OMIM:619991 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Tricuspid ... |
OMIM:618371 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Ventricular septal defect, Cleft soft palate, Patent ductus arteriosus, Elbow flex... |
OMIM:117650 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:244450 |
Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Ventricular septal defect, Intestinal malrotation, Duodenal atresia |
OMIM:617798 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Secundum atrial septal defect, Cryptorchidism, Flexion contracture, Hypopl... |
OMIM:264090 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Dry skin, Hypotension |
ORPHA:428 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elevated circu... |
OMIM:618268 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Hyperthyroidism, Ventricular septal defect, Diastasis recti, Decreased r... |
ORPHA:488632 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Ventricular septal defect, Facial palsy, Aganglionic megacolon, Small thenar emine... |
OMIM:607323 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:619525 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Aortic aneurysm, Mitral valve prolapse |
OMIM:182212 |
Doors Syndrome |
|
Adrenal hyperplasia, Cleft palate, Congenital hypothyroidism, Narrow palate, High palate, Thrombo... |
ORPHA:79500 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Facial palsy, Patent foramen ovale, Congenital hypothyroidi... |
OMIM:620186 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Ventricular septal defect, Splenomegaly, Lymphadenopathy, High palate, Polysple... |
OMIM:619418 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Varicos... |
ORPHA:286 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios |
OMIM:600373 |
Limb Body Wall Complex |
|
Ventricular septal defect, Abnormal heart morphology, Abnormality of the liver, Atrial septal def... |
ORPHA:2369 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Varicose veins, Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prol... |
ORPHA:500095 |
Teebi-Shaltout Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Camptodactyly, Aortic valve stenosis |
OMIM:272950 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Hydrolethalus Syndrome 1 |
|
Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:236680 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Submucous cleft hard palate, Cleft palate, Submu... |
ORPHA:1071 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis, Hepatic fibrosis, Atrial sep... |
OMIM:263520 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... |
ORPHA:97360 |
Den Hoed-De Boer-Voisin Syndrome |
|
Dry skin, Ventricular septal defect, Oligohydramnios |
OMIM:619229 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:139210 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Excessive wrinkled skin,... |
OMIM:225400 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Patent ductus arteriosus, Tr... |
ORPHA:261337 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Supernumerary... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Supernumerary... |
ORPHA:352665 |
Osteopathia Striata With Cranial Sclerosis |
|
Anal stenosis, Ventricular septal defect, Facial palsy, Intestinal malrotation, Patent ductus art... |
OMIM:300373 |
Keutel Syndrome |
|
Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripher... |
OMIM:245150 |
Constricting Bands, Congenital |
|
Ectopia cordis |
OMIM:217100 |
Shprintzen-Goldberg Syndrome |
|
Mitral regurgitation, Abnormal aortic valve morphology, Mitral valve prolapse |
ORPHA:2462 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Ventricular septal defect, Mitral stenosis, Patent ductus arteriosus, Skin ulcer, A... |
ORPHA:955 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis,... |
ORPHA:464306 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital con... |
OMIM:619036 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Retinal hemorrhage |
OMIM:308300 |
Carney Complex |
|
Cardiac myxoma, Congestive heart failure, Hypertension, Dilatation of the cerebral artery, Stroke... |
ORPHA:1359 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal tr... |
ORPHA:3472 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect, Cryptorchidism, Cleft palate, High palate, Decreased testicular size |
ORPHA:251028 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,... |
ORPHA:96121 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Reduced leukocyte arylsulfatase B activity, Cardiomyopathy... |
OMIM:253200 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Polyhydramnios, Patent ductus arteriosus, Coarctation of aorta, Atrioventricular ca... |
OMIM:617088 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353281 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidi... |
ORPHA:3380 |
Frontometaphyseal Dysplasia 1 |
|
Cor pulmonale, Mitral valve prolapse |
OMIM:305620 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Transposition of... |
OMIM:256520 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... |
ORPHA:363700 |
Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Abnor... |
ORPHA:1507 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Mitral regurgitation, Tricu... |
OMIM:601776 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... |
OMIM:194050 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Thyroiditis, Lymphad... |
ORPHA:83471 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta |
OMIM:136140 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Cryptorchidism, Dysplastic tricuspid valve, Cleft palate, Abnormal mit... |
ORPHA:1724 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mitral regurgitation, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:607459 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Ventricular septal defect, Ventricular septal hypertrophy, Clef... |
OMIM:608670 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Hepatoblastoma, Polyhydramnios, Pul... |
ORPHA:96334 |
Holoprosencephaly |
|
Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital dia... |
ORPHA:2162 |
Holoprosencephaly 2 |
|
Single ventricle |
OMIM:157170 |
Monosomy 22 |
|
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Contractures of the lar... |
ORPHA:96123 |
Floating-Harbor Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... |
ORPHA:2044 |
Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Stillbirth, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Dilated cardiomyopathy, Erythema, Mitral valve prolapse, Mitral regurgit... |
ORPHA:2556 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Aortic aneurysm |
OMIM:150250 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect |
OMIM:609460 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Protruding tongue |
OMIM:212066 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Cleft palate, Atrial septal d... |
ORPHA:251014 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Cerebral hemorrhage, Mitral valve prolapse... |
ORPHA:666 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Polyhydramnios, Mitral valve prolapse |
ORPHA:508533 |
Fryns Syndrome |
|
Meckel diverticulum, Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon,... |
OMIM:229850 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Abnormal EKG, Myocarditis, Jaundice, Congestive heart failure, Hepato... |
ORPHA:3385 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Cryptorc... |
OMIM:206900 |
Jacobsen Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Annular panc... |
ORPHA:2308 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hiatus hernia, Malrotation of colon, ... |
OMIM:122470 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Mitral valve prolapse |
ORPHA:369950 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Cleft palate, High palate... |
OMIM:309500 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the... |
OMIM:102700 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contraction, Hypertens... |
OMIM:602535 |
Omodysplasia 1 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:243800 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, High palate, Patent foramen ovale |
OMIM:613884 |
Jacobsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Flexion contracture, Atrial septal d... |
OMIM:147791 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor, Palpitations, Hypertensive crisis, Hypertension associated with ph... |
ORPHA:653 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pulmonary artery stenosis, Dilatation of the ventricul... |
ORPHA:459070 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Aganglionic megacolon, Congenital diaphragmatic hernia, Patent ductus ... |
OMIM:154400 |
Simpson-Golabi-Behmel Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Supernumerar... |
ORPHA:373 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Furrowed tongue, High palate... |
OMIM:616975 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Hamartoma of tongue, Bilateral cryptorchidism, Patent ductus arteriosu... |
ORPHA:434179 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Mitral valve prolapse |
OMIM:259600 |
Chromosome 16P13.3 Duplication Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cryptorchidism, Small thenar eminence, Camptodactyly... |
OMIM:613458 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353277 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363958 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
Poland Syndrome |
|
Atrial septal defect, Abnormality of the liver, Dextrocardia |
ORPHA:2911 |
Helsmoortel-Van Der Aa Syndrome |
|
Heart murmur, Mitral valve prolapse, Abnormal heart morphology, Mitral regurgitation, Atrial sept... |
OMIM:615873 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Cryptorchidism, High, narrow palate, Incr... |
ORPHA:33364 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Premature the... |
OMIM:147920 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... |
ORPHA:438213 |
Orofaciodigital Syndrome Xiv |
|
Ventricular septal defect, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Aplasia... |
OMIM:615948 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Abnormality of the gallbladd... |
ORPHA:818 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, At... |
OMIM:617140 |
Oculodentodigital Dysplasia |
|
Arrhythmia, Ventricular septal defect |
ORPHA:2710 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Atrial septal defect, Exaggerated median tongue furrow, Cryptorc... |
OMIM:312870 |
Vater/Vacterl Association |
|
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul... |
OMIM:192350 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper eyelid ... |
OMIM:616268 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... |
OMIM:235730 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, High... |
OMIM:102500 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
Charge Syndrome |
|
Aortic arch aneurysm, Polyhydramnios, Patent ductus arteriosus, Abnormal cardiac septum morpholog... |
ORPHA:138 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Hyperten... |
OMIM:270400 |
Hallermann-Streiff Syndrome |
|
Congestive heart failure |
ORPHA:2108 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Cleft palate, Pineal cyst, Right aortic arch, Lower-limb joint contrac... |
ORPHA:513456 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation |
OMIM:271640 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... |
OMIM:301044 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Atrial septal defect, Atrioventricular canal defect,... |
ORPHA:672 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... |
ORPHA:268261 |
Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure |
ORPHA:94147 |
Penile Agenesis |
|
Ventricular septal defect, Maternal diabetes, Rectal fistula, Cryptorchidism, Tracheoesophageal f... |
ORPHA:49 |
Perlman Syndrome |
|
Ascites, Polyhydramnios, Interrupted aortic arch, Edema |
OMIM:267000 |
Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Ventricular septal defect, Cleft palate |
ORPHA:1934 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anal stenosis, Ventricular septal defect, Anterior pituitary hypopla... |
OMIM:181450 |
Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Duodenal ulce... |
OMIM:135900 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Tracheoesophagea... |
OMIM:107480 |
Stickler Syndrome |
|
Arrhythmia, Mitral valve prolapse |
ORPHA:828 |
Peters-Plus Syndrome |
|
Ventricular septal defect, Bilobate gallbladder, Polyhydramnios, Patent ductus arteriosus, Biliar... |
OMIM:261540 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat... |
ORPHA:64 |
Genitopatellar Syndrome |
|
Hip contracture, Anal stenosis, Ventricular septal defect, Cryptorchidism, Malrotation of small b... |
OMIM:606170 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Decreased muscle mass, Ventricular septal defect, Precocious puberty, Cryptorch... |
OMIM:194190 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Biliary tract abnormality, S... |
OMIM:268300 |
Sotos Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Abnormal heart morphology, Prol... |
ORPHA:821 |
Proteus Syndrome |
|
Decreased muscle mass, Thymus hyperplasia, Testicular neoplasm, Lymphangioma, Splenomegaly, Neopl... |
ORPHA:744 |
Cornelia De Lange Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidis... |
ORPHA:199 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619522 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Ca... |
OMIM:216340 |
Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage |
OMIM:233450 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Asplenia, Cleft hard palate, Flexion contracture, Abnormality of the pulmo... |
ORPHA:261552 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Tet... |
OMIM:164210 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
High palate, Ventricular septal defect, Bifid uvula |
OMIM:620330 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch |
ORPHA:457284 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus,... |
OMIM:601803 |