| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transposition of the grea... |
OMIM:231060 |
| Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... |
OMIM:613255 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
| Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat... |
OMIM:600884 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
| Atrioventricular Septal Defect 3 |
|
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... |
OMIM:600309 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... |
ORPHA:2041 |
| Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
| Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... |
ORPHA:615 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
| Lethal Congenital Contracture Syndrome 10 |
|
High palate, Torticollis, Narrow palate, Hypoplasia of the thymus, Ventricular septal defect, Ove... |
OMIM:617022 |
| Catel-Manzke Syndrome |
|
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Camptodactyly, Ventricular septal ... |
OMIM:616145 |
| Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
| Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Atrial septal defect, Pallor, Paroxysmal atrial tachycardia, Ventricular septal defect, C... |
ORPHA:49827 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
| Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Atrial septal defect, Hepatomegaly, Hydrops fetalis, Pulmonary ... |
ORPHA:90308 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of... |
ORPHA:3304 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
| Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Hydrocele testis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Over... |
OMIM:601927 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... |
OMIM:619371 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis |
OMIM:619608 |
| Neurocardiofaciodigital Syndrome |
|
Double inlet left ventricle, Patent ductus arteriosus, Tetralogy of Fallot, Atrial septal defect |
OMIM:619869 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... |
OMIM:618052 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
| Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... |
ORPHA:99095 |
| Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Left ventricu... |
ORPHA:99050 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Atrial fib... |
OMIM:614954 |
| Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:249670 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Stroke, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... |
OMIM:115197 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Hypoplastic left heart, Cleft palate, Intestin... |
ORPHA:3426 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Muscular ventricular septal defect |
OMIM:620062 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
| Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive hea... |
OMIM:605676 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Tricuspid regurgitation, Cutis laxa, Mitral regurgitation, Short chordae t... |
OMIM:314400 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... |
OMIM:253300 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... |
ORPHA:477817 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Situs inver... |
OMIM:605376 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... |
OMIM:619048 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... |
OMIM:220210 |
| Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Stroke, Absent ankle pulse, Pallor, Myocardial infarction, Abnormal... |
ORPHA:90064 |
| Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Left ventricular noncompaction, Atrial standstill, Mo... |
ORPHA:1344 |
| Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
| Transaldolase Deficiency |
|
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Coarctation of aorta, Biven... |
ORPHA:101028 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
High palate, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
| Craniofaciofrontodigital Syndrome |
|
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... |
ORPHA:363705 |
| Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Primum atrial septal defect |
OMIM:615272 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Congestive heart fai... |
OMIM:618234 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypert... |
OMIM:617021 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Anomalous pulmonary venous return, Stroke, Atrial arrhythmia, Systol... |
ORPHA:99105 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Atrioventricular canal def... |
OMIM:619534 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:616198 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Stroke-like e... |
ORPHA:563 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pallor, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios, Congestive ... |
ORPHA:163596 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
| Pseudoxanthoma Elasticum |
|
Mitral stenosis, Angina pectoris, Intermittent claudication, Stroke, Cutis laxa, Restrictive card... |
OMIM:264800 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Cryptorchidism |
ORPHA:1918 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Testicular dysgenesis, Cryptorchidism, Tetralogy of Fallot |
OMIM:615542 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Mungan Syndrome |
|
Barrett esophagus, Pulmonic stenosis, Megaduodenum, Intestinal pseudo-obstruction, Perimembranous... |
OMIM:611376 |
| White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
| Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... |
ORPHA:980 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation of aorta, Ventricu... |
OMIM:600987 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia |
ORPHA:306550 |
| Sandestig-Stefanova Syndrome |
|
High palate, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal... |
OMIM:618804 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Abnormal aortic valve c... |
ORPHA:99094 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricular septal defect, Cardiome... |
OMIM:306955 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Jau... |
ORPHA:57777 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Stroke, Atrial arrhythmia, Restricti... |
ORPHA:85451 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pulm... |
ORPHA:2414 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular s... |
OMIM:617877 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
| Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:617222 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:615297 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Ventricular septal defect, Pedal edema, Patent ductus arteriosus, S... |
OMIM:126320 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Anal atresia, Atrial septal defect, Velopharyngeal insufficiency, Muscular ventricular septal def... |
ORPHA:363444 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, High, narrow palate |
ORPHA:2515 |
| Grange Syndrome |
|
Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus, Hyp... |
ORPHA:79094 |
| Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... |
ORPHA:217607 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Aganglionic megacolon |
OMIM:235750 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Mitral regurgitation, Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis |
OMIM:226100 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
| Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... |
ORPHA:3405 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Pyloric stenosis, Ventricular septal defe... |
OMIM:614262 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Camptodactyly, Hypothyroidism, Protein-losing enteropathy, Patent ductus arterios... |
OMIM:608104 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... |
ORPHA:275766 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyopathy, Congest... |
OMIM:613313 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Ventricular septal defect, Pancreatic hypoplasia, Microcolon, Tetral... |
OMIM:600001 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus, Cleft palate |
OMIM:601355 |
| Myopathy, Congenital, Nonprogressive |
|
Atrial septal defect, Elevated hepatic transaminase, Polyhydramnios, Patent ductus arteriosus, Pa... |
OMIM:619967 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:206546 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, ... |
OMIM:616166 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot |
ORPHA:251076 |
| Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Striae distensae, Aortic aneurysm |
OMIM:604308 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
| Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Atrioventricular canal defect, Hypoplasia of the thymus, Conotr... |
ORPHA:40366 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Abnormal left ventricular function, Supraventricular tachycardia, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... |
OMIM:600858 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:225 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal heart morphology, Decreased liver function, Abnormal enzyme/coenzyme activity, Hypertrop... |
ORPHA:70472 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Cleft palate, Glossoptosis, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1388 |
| Mmep Syndrome |
|
Ventricular septal defect, Cryptorchidism |
ORPHA:3434 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Ventricular septal defect, Hypoplastic left heart, Cleft palate |
ORPHA:2476 |
| Capillary Malformation-Arteriovenous Malformation |
|
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... |
ORPHA:137667 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Carotid artery calcification, Congestive heart failure, Generalized arterial calcification, Myoca... |
OMIM:208000 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Ab... |
ORPHA:1166 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... |
OMIM:620066 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... |
OMIM:132900 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... |
ORPHA:1055 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... |
ORPHA:229 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy |
OMIM:614947 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Cirrhosis, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart fai... |
OMIM:602390 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... |
OMIM:612561 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... |
OMIM:601186 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... |
OMIM:614300 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta |
ORPHA:1110 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Pulmo... |
ORPHA:2326 |
| American Trypanosomiasis |
|
Hepatomegaly, Pallor, Arrhythmia, Myocarditis, Edema, Periorbital edema, Cardiomyopathy, Congesti... |
ORPHA:3386 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| 46,Xx Sex Reversal 5 |
|
Increased serum testosterone level, Secundum atrial septal defect, Hypoplastic left heart, Aplasi... |
OMIM:618901 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin, Neonatal death, Congestive heart failure |
OMIM:301021 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Hydrops fe... |
OMIM:212093 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Nonimmune... |
ORPHA:367 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Hydrops fetalis, Ascites, Cardiomegaly, Congestive heart failure |
OMIM:269920 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276556 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Stroke, Heart murmur, Dilatation of the sinus of Valsalva, Aortic regurgi... |
ORPHA:1054 |
| Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... |
OMIM:618300 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect |
OMIM:618496 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... |
OMIM:601005 |
| Morbid Obesity And Spermatogenic Failure |
|
Premature coronary artery atherosclerosis, Myocardial infarction, Hypertension, Hepatic steatosis... |
OMIM:615703 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... |
OMIM:212140 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology |
ORPHA:2868 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:619717 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial ... |
OMIM:108800 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Dilated cardiomyopathy, Biventricular hypertrophy, Elevated jugular venous ... |
OMIM:255160 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Stroke, Microvesicular hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, Dilated... |
OMIM:611126 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Hypertension, Pulmonary ar... |
OMIM:613355 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
| Sandhoff Disease |
|
Hepatomegaly, Cherry red spot of the macula, Congestive heart failure |
ORPHA:796 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Leukocytosis, Intestinal malrot... |
OMIM:243150 |
| Dk1-Cdg |
|
Abnormal enzyme/coenzyme activity, Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fi... |
ORPHA:91131 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:618652 |
| Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Peripheral arteriovenous fistula, Hepatic hemangioma, Prominent super... |
ORPHA:141179 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, Elevated hepatic transaminase, Ple... |
OMIM:235200 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276575 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Ped... |
ORPHA:99103 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Wild Type Attr Amyloidosis |
|
Pulmonary edema, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Orthostat... |
ORPHA:330001 |
| Mitral Valve Prolapse 1 |
|
Mitral valve prolapse, Striae distensae, Mitral regurgitation |
OMIM:157700 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Aortic valve stenosis, Aortic atherosclerotic lesion, Intracranial hemor... |
ORPHA:363618 |
| Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Tracheoesophageal fistula, Coarctation of aorta, Ventricular se... |
ORPHA:1923 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276580 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
| Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cleft palate |
OMIM:616898 |
| Sotos Syndrome |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Muscular ventricular septa... |
OMIM:117550 |
| Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... |
OMIM:193400 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Bruising susceptibility, Arrhythmia, Mitral valve prolapse, Gastrointestinal hemorrhage, ... |
ORPHA:230839 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... |
OMIM:617478 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Hydrops fetalis, Ascites, Cardiomega... |
OMIM:253250 |
| Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Diaphragmatic eventration, Hypochromic microcytic anemia, Hyp... |
ORPHA:66634 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
| Desminopathy |
|
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... |
ORPHA:98909 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch |
OMIM:617577 |
| Hadziselimovic Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... |
OMIM:612946 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return, Pulmonary arterial hypertension |
OMIM:106700 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
| Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
| Rheumatic Fever |
|
Abnormal mitral valve morphology, Pallor, Endocarditis, Abnormal aortic valve morphology, Myocard... |
ORPHA:3099 |
| Chromosome 9P Deletion Syndrome |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Ventricular septal defect,... |
OMIM:158170 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Ventricular septal defect, Patent ductus arteriosus |
ORPHA:261120 |
| Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Cholelithiasis, Atrial septal defect, Hepatic failure, Elevated he... |
OMIM:614886 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Pulmonary edema, Hypotension, Shortened PR interval, Biventricular hype... |
OMIM:261740 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Muscular ventricular septal defect, Tracheoesophageal fistula, Esophageal atres... |
OMIM:619227 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis, Tetralogy of Fallot |
OMIM:618624 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Polyhydramnios, Atrial septal defect, Congestive heart failure |
ORPHA:500533 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Cutis laxa, Single ventricle, Double aortic arch, Tetralogy of Fallot, Vent... |
ORPHA:95430 |
| Tetraamelia Syndrome 2 |
|
Glossoptosis, Ventricular septal defect, Ankyloglossia, Hypoplastic pulmonary veins |
OMIM:618021 |
| Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Peripheral arteriovenous fistula, Hepatic hemangioma, Prominent super... |
ORPHA:141184 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:617044 |
| Mitral Valve Prolapse 2 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:607829 |
| Mitral Valve Prolapse 3 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:610840 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal aortic v... |
ORPHA:1194 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Palm... |
OMIM:615355 |
| Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:324588 |
| Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Abnormal enzyme/coenzyme activity, Abnormality of the liver, Congestive he... |
ORPHA:132 |
| Okamoto Syndrome |
|
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Abnormal le... |
ORPHA:2729 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Anal atresia, Atrial septal defect |
ORPHA:3469 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Neonatal death, Truncus arteriosus |
OMIM:228940 |
| Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Normochromic anemia, Reticulocytopenia, Elevated re... |
OMIM:615550 |
| 3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Sudden cardiac death, Dilated cardiomyopathy, Noncompaction car... |
OMIM:610198 |
| Fabry Disease |
|
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Lymphedema, Ven... |
OMIM:301500 |
| Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic regurgitation, Aortic ro... |
OMIM:609008 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Cryptorchidism, Congenital diaphragmatic hernia, Hypoplastic left atrium |
OMIM:615524 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Oligohydramnios, C... |
OMIM:616866 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anal atresia, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Ventricular se... |
OMIM:309801 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Palpitations, Partial diaphragmatic... |
ORPHA:2847 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Abnormal left ventricular function, Hepatomegaly, Pulmonic stenosi... |
OMIM:301056 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Atri... |
ORPHA:324410 |
| Polymyositis |
|
Abnormal mitral valve morphology, Hepatomegaly, Elevated aldolase level, Arrhythmia, Vasculitis, ... |
ORPHA:732 |
| Maternal Phenylketonuria |
|
High palate, Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralo... |
ORPHA:2209 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Situs inversus totalis, Abnorma... |
ORPHA:244 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, V... |
OMIM:619343 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Cleft palate, Ventricular septal defect, Abnormal aortic morphology, Truncus... |
ORPHA:2516 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... |
OMIM:177850 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Hepatomegaly, Acute hepatic failure, Dehydra... |
ORPHA:1667 |
| Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... |
ORPHA:1913 |
| Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... |
ORPHA:228410 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... |
OMIM:612158 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse, Striae distensae |
OMIM:130020 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatomegaly, Pallor, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy |
ORPHA:848 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... |
OMIM:115250 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:619189 |
| Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:236750 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ectopic anus, Ventricular septal defect, Cleft palate |
ORPHA:94066 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Cherry red spot of the macula, Decreased beta-galactosidase activity, Hydrops fetal... |
OMIM:230500 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect, ... |
OMIM:153400 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect |
OMIM:614868 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Acute hepatic failure, Sudden cardiac death, Hepatic steatosis, Increased ... |
ORPHA:99901 |
| Coffin-Siris Syndrome 10 |
|
Ventricular septal defect |
OMIM:618506 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation |
ORPHA:83473 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal def... |
ORPHA:210122 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension |
OMIM:613870 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Dry skin, T... |
ORPHA:163956 |
| Pseudoxanthoma Elasticum |
|
Angina pectoris, Telangiectasia of the skin, Bruising susceptibility, Restrictive cardiomyopathy,... |
ORPHA:758 |
| Classic Multiminicore Myopathy |
|
Mitral valve prolapse, Right ventricular failure, Congestive heart failure, Right ventricular hyp... |
ORPHA:324604 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... |
ORPHA:401935 |
| Renal Tubular Dysgenesis |
|
Polyhydramnios, Oligohydramnios, Tetralogy of Fallot |
ORPHA:3033 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncu... |
OMIM:616589 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Patent ductus arteriosus |
ORPHA:2863 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Atrial septal defect, Arrhythmia, Ventricular septal defect, Situs inversus totalis, Card... |
OMIM:249270 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Hepatomegaly |
ORPHA:46532 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse, Petechiae, Striae distensae, Bruising susceptibility |
OMIM:225310 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral ischemia, Sync... |
ORPHA:90065 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Peripheral pulmonary artery stenosis, Cutis laxa, Mitral regurgitation, Redundant skin, Ventricul... |
OMIM:123700 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Cleft palate, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Intermittent thro... |
OMIM:612541 |
| Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:1349 |
| Down Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Tetralogy of ... |
OMIM:190685 |
| Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease |
OMIM:268040 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Hypoparathyroidism, Narrow palate, Atrial septal defect, Decreased... |
OMIM:618223 |
| Primary Lipodystrophy |
|
Angina pectoris, Cirrhosis, Type IV atherosclerotic lesion, Hypertension, Hepatic steatosis, Card... |
ORPHA:90970 |
| Tyshchenko Syndrome |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Cleft palate, Supernumerar... |
OMIM:615102 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Coronary artery calcification, Hypertension, Myocardial infarction, Congestive heart failure |
OMIM:614473 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Congestive heart failure |
OMIM:616794 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Aortic aneurysm, Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular ma... |
OMIM:130090 |
| Halperin-Birk Syndrome |
|
High palate, Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Flexion c... |
OMIM:618651 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... |
OMIM:616564 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
| Storm Syndrome |
|
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... |
OMIM:185069 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:618974 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Transaldolase Deficiency |
|
Decreased liver function, Atrial septal defect, Hepatomegaly, Micronodular cirrhosis, Cirrhosis, ... |
OMIM:606003 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Hepatomegaly, Cirrhosis, Atherosclerosis, Coronary artery atheroscleros... |
ORPHA:79083 |
| Joubert Syndrome 18 |
|
Ventricular septal defect, Camptodactyly |
OMIM:614815 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
| Cednik Syndrome |
|
Stroke, Congestive heart failure |
ORPHA:66631 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Mitral regurgitation, Hepatic cysts, Mitral valve prolapse, Hypertension |
OMIM:173900 |
| Refsum Disease, Classic |
|
Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
| Noonan Syndrome 11 |
|
Pulmonic stenosis, Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Atrial septal defect |
OMIM:618499 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism, Intrinsic hand muscle atrophy, Muscular ventricular septal defect |
OMIM:618569 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula |
OMIM:619083 |
| Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:601450 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Pulmonary e... |
ORPHA:137675 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Prolonged prothrombin time, Coarctation of aorta |
OMIM:616559 |
| African Iron Overload |
|
Abnormal heart morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Hepatocellular ... |
ORPHA:139507 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... |
OMIM:608406 |
| Apert Syndrome |
|
Ectopic anus, Narrow palate, Cleft palate, Bifid uvula, Pyloric stenosis, Ventricular septal defe... |
OMIM:101200 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia |
OMIM:221950 |
| Kawasaki Disease |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:2331 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Anal atresia, Duodenal atresia, Tricuspid stenosis, Patent ductus arteriosus, ... |
ORPHA:391641 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transpositi... |
ORPHA:1727 |
| Optic Atrophy 8 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:616648 |
| Giant Cell Arteritis |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, Cardiomegaly |
ORPHA:99931 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:606703 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate |
OMIM:214300 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated circulating alkaline phosphatase concentration, Abnormal pericardium morphology, Pleural... |
ORPHA:67 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Hepatic cysts, Ventricular septal defect, Polyhydramnios, Stillbirth |
OMIM:263630 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Colitis, Gastritis, Atrial septal defect, Lymphopenia, Splenomegaly, Perip... |
ORPHA:84064 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia |
OMIM:613686 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... |
ORPHA:2306 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Atherosclerosis, Coronary artery atherosclerosis, Hypertrophic cardiomyopathy, Hepa... |
ORPHA:2348 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Diabetic Embryopathy |
|
Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Ventricu... |
ORPHA:1926 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia |
ORPHA:3222 |
| Lambert Syndrome |
|
Ventricular septal defect, Jaundice, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Macroglossia, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Ventricular sept... |
OMIM:301040 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Pulmon... |
ORPHA:75249 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615482 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Ventricular septal defect |
OMIM:314320 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... |
ORPHA:1120 |
| Weill-Marchesani Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation |
ORPHA:3449 |
| Simple Cryoglobulinemia |
|
Stroke, Viral hepatitis, Raynaud phenomenon, Vasculitis, Myocardial infarction, Purpura, Acral ul... |
ORPHA:91139 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Abnormal... |
ORPHA:290 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... |
ORPHA:284169 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Hepatopulmonary fusi... |
OMIM:618280 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... |
ORPHA:444013 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Abnormal carotid artery morphology, Redundant skin, Myocarditis, Myoc... |
ORPHA:3342 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... |
OMIM:613834 |
| Microscopic Polyangiitis |
|
Subcutaneous hemorrhage, Arrhythmia, Erythema, Vasculitis, Skin ulcer, Gastrointestinal hemorrhag... |
ORPHA:727 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hydrops fetalis, Elevated circulating aspartate aminotransferase concentration, Arrhythmia, Chole... |
OMIM:609015 |
| Retinitis Pigmentosa 27 |
|
Pallor, Macular edema |
OMIM:613750 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Pulmonic s... |
OMIM:610205 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Erythroid hypoplasia, Ventricular septal defect, Macrocytic anemia, Reticulocytopenia |
OMIM:612528 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Ventricular septal defect |
ORPHA:3369 |
| Angioosteohypertrophic Syndrome |
|
Tricuspid valve prolapse, Telangiectasia of the skin, Peripheral arteriovenous fistula, Pulmonary... |
ORPHA:2346 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Joint contracture of the hand, Cleft palate, Hypoplasia of the thymus, Camptodactyly, Cryptorchid... |
OMIM:214110 |
| Dextrocardia |
|
Congenital malformation of the great arteries, Situs inversus totalis, Dextrocardia, T-wave inver... |
ORPHA:1666 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:613458 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Supravalvular aortic stenosis, Cutis laxa, Lack of skin ela... |
ORPHA:90349 |
| Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
| Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Edema |
OMIM:607598 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endocarditis, Vasculitis, M... |
ORPHA:183 |
| Alg12-Cdg |
|
Muscular ventricular septal defect, Intestinal malrotation, B lymphocytopenia, Camptodactyly, Biv... |
ORPHA:79324 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect, Flexion contracture, Cleft palate |
OMIM:147800 |
| Short Stature And Facioauriculothoracic Malformations |
|
High palate, Ventricular septal defect, Cleft palate |
OMIM:609654 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Vascular ring |
OMIM:603387 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Joint swelling, Cholangiocarcinoma, Hepatomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia... |
ORPHA:465508 |
| Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Stillbirth, Neonatal death, Congestive heart failure |
OMIM:619751 |
| Seckel Syndrome 10 |
|
Elevated circulating aspartate aminotransferase concentration, Abdominal aortic aneurysm, Elevate... |
OMIM:617253 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin, Arteriovenous malformation, Venous insufficiency, Congestive heart failure |
ORPHA:137608 |
| Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Aortic valve stenosis, Dysplastic ... |
ORPHA:1600 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Atrial septal defect, Elevated circulating alkaline phosphatase concentration, Abno... |
OMIM:614576 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral valve prolapse, Aortic regurgitation, Mitral regurgitation, Bruising susceptibility |
OMIM:225320 |
| Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Abnormal tricuspid valve morphology, Hepatomegaly |
ORPHA:1759 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Dextrotransposition of the great arteries, Lower limb hyp... |
OMIM:619995 |
| Noonan Syndrome 2 |
|
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Palmopla... |
OMIM:605275 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Pallor, Atrial septal defect, Patent foramen ovale |
OMIM:609053 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, C... |
OMIM:267010 |
| Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... |
OMIM:601808 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615067 |
| Camurati-Engelmann Disease, Type 2 |
|
Mitral valve prolapse, Elevated circulating alkaline phosphatase concentration, Mitral regurgitation |
OMIM:606631 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Mcdonough Syndrome |
|
Diastasis recti, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricular sept... |
OMIM:248950 |
| Cap Myopathy |
|
Mitral valve prolapse, Sinus tachycardia, Aortic root aneurysm, Reduced systolic function |
ORPHA:171881 |
| Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... |
OMIM:301043 |
| Gm1 Gangliosidosis |
|
Cherry red spot of the macula, Decreased beta-galactosidase activity, Hepatosplenomegaly, Hydrops... |
ORPHA:354 |
| Woods Syndrome |
|
Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal enzyme/coenzyme activity, Bruising susceptibility, Abnormal bleeding, Arterial dissectio... |
ORPHA:1900 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal atresia, Intestinal malrotation, Hypoplasia of the thymus, Ventricular septal defect, ... |
ORPHA:436252 |
| Transketolase Deficiency |
|
Atrial septal defect, Hepatomegaly, Abnormal coronary artery course, Ventricular septal defect, P... |
ORPHA:488618 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Cardiomyopathy, Conge... |
ORPHA:52430 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Reduced left ventricular ejection fraction, Holos... |
ORPHA:1677 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... |
OMIM:619149 |
| Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:615279 |
| Charge Syndrome |
|
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Aplasia/Hypoplasia of the thy... |
OMIM:214800 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia |
OMIM:618063 |
| Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Camptodactyly, Ventricular septal defect, Protruding tongue, Patent ductus ... |
OMIM:300963 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse |
OMIM:211960 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect |
OMIM:615502 |
| Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Stroke, Hepatomegaly, Atrioventricular canal defect... |
ORPHA:97214 |
| Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Mitral valve prolapse |
ORPHA:908 |
| Immune-Mediated Necrotizing Myopathy |
|
Palpitations, Raynaud phenomenon, Myocarditis, Congestive heart failure |
ORPHA:206569 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Cirrhosis, Prominent superficial veins, Hypertrophic cardiomyopathy, Hepatic steato... |
ORPHA:528 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Cryptorchidism, Tetralogy of Fallot |
ORPHA:1381 |
