| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Cleft upper lip, Cleft palate, Right ao... |
OMIM:231060 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... |
OMIM:617912 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... |
OMIM:615779 |
| 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, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:613255 |
| Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy |
OMIM:226000 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... |
OMIM:613751 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... |
ORPHA:3400 |
| Sonoda Syndrome |
|
Narrow mouth, Ventricular septal defect |
OMIM:270460 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| Left Ventricular Noncompaction 1 |
|
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... |
OMIM:604169 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... |
OMIM:617205 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... |
ORPHA:1329 |
| Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Vascular dilatation, Impaired myocardial contractility, Congestive heart ... |
OMIM:600884 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... |
ORPHA:1209 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... |
OMIM:253300 |
| Atrioventricular Septal Defect 3 |
|
Inlet ventricular septal defect, Midsystolic murmur, Pulmonary arterial hypertension, Hypertensio... |
OMIM:600309 |
| Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term |
OMIM:618782 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
| Catel-Manzke Syndrome |
|
Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Camptodactyly, Dextrocardia, Cle... |
OMIM:616145 |
| Cardiomyopathy, Dilated, 1J |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Abnormal left ventricular... |
OMIM:605362 |
| Lethal Congenital Contracture Syndrome 10 |
|
Long philtrum, Narrow palate, Ventricular septal defect, Hypoplasia of the thymus, Torticollis, C... |
OMIM:617022 |
| Partial Atrioventricular Septal Defect |
|
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... |
ORPHA:1330 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... |
OMIM:601493 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614429 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Syncope |
OMIM:613694 |
| Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Syncope |
OMIM:613697 |
| Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:606685 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... |
OMIM:208530 |
| Familial Atrial Myxoma |
|
Pedal edema, Cardiac myxoma, Cholestasis, Tricuspid regurgitation, Jaundice, Pulmonic valve myxom... |
ORPHA:615 |
| Aorta Coarctation |
|
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... |
ORPHA:1457 |
| Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Prolonged bleeding time, Hydrops fetalis, Gastrointestinal hemorrhage, Abno... |
ORPHA:90308 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure |
ORPHA:217622 |
| Left Ventricular Noncompaction 8 |
|
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... |
OMIM:615373 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... |
OMIM:614980 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Hydrocele testis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thin... |
OMIM:601927 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Scimitar Syndrome |
|
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... |
ORPHA:185 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cryptorchidism, Atrial septal defect, Patent ductus arteriosus, Thin upper lip vermilion, Pulmoni... |
ORPHA:3304 |
| Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Reduced systolic function |
OMIM:609909 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... |
ORPHA:216694 |
| Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
OMIM:613172 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis |
OMIM:192600 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arter... |
OMIM:249670 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Long philtrum, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, Thin upper li... |
OMIM:617877 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Coarctation of aorta, Intestinal mal... |
ORPHA:3426 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:614432 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Long philtrum, Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart ... |
ORPHA:477817 |
| Chromosome 15Q14 Deletion Syndrome |
|
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... |
OMIM:616898 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Atrial septal defect, Abnormal heart morphology, Camptodactyly, Patent ductus arte... |
ORPHA:363444 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Aortic Valve Disease 1 |
|
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... |
OMIM:109730 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Megabladder, Congenital |
|
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... |
OMIM:618719 |
| Cardiomyopathy, Dilated, 1R |
|
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... |
OMIM:613424 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... |
OMIM:618845 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... |
ORPHA:49827 |
| Cardiomyopathy, Dilated, 1Kk |
|
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... |
OMIM:615248 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... |
OMIM:618164 |
| Aneurysm Of Interventricular Septum |
|
Abnormal ventricular septum morphology, Vascular dilatation |
OMIM:105805 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Mmep Syndrome |
|
Oral cleft, Cryptorchidism, Median cleft lip, Ventricular septal defect |
ORPHA:3434 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... |
OMIM:614954 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:613881 |
| Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:611880 |
| Autosomal Dominant Coarctation Of Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... |
ORPHA:1455 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Abnormal heart morphology |
OMIM:617744 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... |
ORPHA:1345 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly |
OMIM:619170 |
| Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Congestive heart failure, Restrictive cardiomyopathy |
ORPHA:2022 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... |
ORPHA:99050 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Left atrial enl... |
OMIM:608751 |
| 8P23.1 Duplication Syndrome |
|
Long philtrum, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Adrenal insu... |
ORPHA:251076 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Atrial septal defect, Arrhythmia, Abnormal endocardium morphology, Imperforate tricuspid valve, A... |
ORPHA:1880 |
| Mungan Syndrome |
|
Megaduodenum, Intestinal pseudo-obstruction, Pulmonic stenosis, Perimembranous ventricular septal... |
OMIM:611376 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Mitral regurgitation, Left atrial enlargement, Congestive heart failure, Atrial fibrillation |
OMIM:617047 |
| Recombinant Chromosome 8 Syndrome |
|
Cryptorchidism, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Cam... |
OMIM:179613 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Ventricular tachycardia, Congestive heart failure, Edema, Dilated card... |
OMIM:605676 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Pulmonic stenosis, Aortic va... |
OMIM:220210 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Polysplenia, Intestinal malrotation, Dextrocardia, Double outlet right ve... |
OMIM:605376 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
| Transaldolase Deficiency |
|
Cirrhosis, Atrial septal defect, Hydrops fetalis, Premature skin wrinkling, Biventricular hypertr... |
ORPHA:101028 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... |
OMIM:619048 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Cutis laxa, Tricuspid regurgitation, Short chordae tendineae of the mitral ... |
OMIM:314400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:618234 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Congestive heart failure, Cardiomyopathy |
OMIM:616198 |
| Mass Syndrome |
|
Mitral valve prolapse, Aortic aneurysm, Striae distensae |
OMIM:604308 |
| Cardiomyopathy, Dilated, 1S |
|
Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia, Tricuspid regurgitatio... |
OMIM:613426 |
| Sandestig-Stefanova Syndrome |
|
Camptodactyly, Oral cleft, Perimembranous ventricular septal defect, Muscular ventricular septal ... |
OMIM:618804 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Narrow mouth, Downturned corners of mouth, Abnormal aortic arch morphology, Arteri... |
ORPHA:1110 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Arrhythmia, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Hypertension, D... |
OMIM:617021 |
| 14Q11.2 Microdeletion Syndrome |
|
Long philtrum, Narrow mouth, Ventricular septal defect, High palate, Everted lower lip vermilion,... |
ORPHA:261120 |
| Cardiomyopathy, Dilated, 1A |
|
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... |
OMIM:115200 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis |
OMIM:601322 |
| Fetal Minoxidil Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:1918 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Smooth... |
OMIM:618316 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... |
ORPHA:1354 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... |
ORPHA:45453 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis |
OMIM:615542 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... |
OMIM:616749 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Gastrointestinal Defects And Immunodeficiency Syndrome |
|
Enamel hypoplasia, Ventricular septal defect, Autoimmune hemolytic anemia, Intestinal malrotation... |
OMIM:243150 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... |
ORPHA:3384 |
| Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Hepatomegaly, Congestive heart fa... |
ORPHA:163596 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... |
ORPHA:2248 |
| Cardiomyopathy, Dilated, 1D |
|
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... |
OMIM:601494 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function, Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:614676 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Congenital... |
ORPHA:1166 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... |
ORPHA:99105 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Ectopic anus, Hypoplastic left heart, Cleft palate |
ORPHA:2476 |
| Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pecto... |
OMIM:264800 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... |
OMIM:306955 |
| Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:617222 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Short philtrum, Atrial septal defect, Ventricular septal defect, Thick lower lip vermilion, Widel... |
OMIM:608227 |
| Hemochromatosis, Type 2B |
|
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Cardiomyopathy |
OMIM:613313 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Cardiomyopathy |
ORPHA:1909 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect |
ORPHA:2515 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... |
OMIM:614262 |
| Atrial Standstill |
|
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... |
ORPHA:1344 |
| Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Pleural effusion, Tricuspid regurgitation, Hepatomegaly, Pulmonic stenosis, Cong... |
ORPHA:2414 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Feingold Syndrome 2 |
|
Intestinal atresia, Ventricular septal defect |
OMIM:614326 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... |
OMIM:604400 |
| Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Arterial... |
ORPHA:79094 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Pedal edema, Patent ductus arteriosus, Peripheral arterial stenosis, S... |
OMIM:126320 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Glossoptosis, Oral syne... |
ORPHA:1388 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... |
OMIM:108900 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy |
OMIM:226100 |
| Familial Dilated Cardiomyopathy |
|
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... |
ORPHA:217607 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Cleft palate, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Peripartum Cardiomyopathy |
|
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... |
ORPHA:563 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... |
ORPHA:99125 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect |
OMIM:270100 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Duode... |
ORPHA:3405 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intestinal malrotation, Patent ductus arteriosus, Pancreatic hypoplasia, Microcolon, Pulmonary ar... |
OMIM:600001 |
| Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Pedal ... |
ORPHA:275766 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Open mouth, Ventricular septal defect, Myopathy, Increased variability in muscle ... |
OMIM:616816 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
| Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Congestive heart failure, Cardiomyopathy |
ORPHA:53296 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... |
OMIM:612474 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
| Coffin-Siris Syndrome 10 |
|
Wide mouth, Persistence of primary teeth, Ventricular septal defect |
OMIM:618506 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Aortic tortuosity, Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascendin... |
OMIM:616166 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation |
OMIM:614672 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Atrial flutter, Atr... |
ORPHA:300751 |
| Maternally-Inherited Diabetes And Deafness |
|
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy |
ORPHA:225 |
| Long Qt Syndrome 13 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Coronary artery atherosclerosi... |
OMIM:613485 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... |
OMIM:604145 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Atrial flutter, Congestive heart failure, Cardiomegaly |
OMIM:300886 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cryptorchidism, Erythroid hypoplasia, Atrial septal defect, Monocytosis, Lymphopenia, Patent duct... |
OMIM:612541 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Ventricular hypertrophy, Persistence of hemoglobin F, Ventricular septal de... |
OMIM:612561 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve |
ORPHA:228190 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus, Median cleft palate, Atrioventricular canal defect, High palate, Conotr... |
ORPHA:40366 |
| Tetralogy Of Fallot |
|
Cryptorchidism, Tetralogy of Fallot, Thin vermilion border |
ORPHA:3303 |
| Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... |
OMIM:601186 |
| Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... |
ORPHA:1055 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... |
ORPHA:99106 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
| Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Anal atresia, U-Shaped ... |
OMIM:612946 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Arrhythmia, Hepatomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyop... |
OMIM:602390 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
| Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... |
ORPHA:90064 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Atrial septal defect, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Pulmonic ste... |
OMIM:614300 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
| Barth Syndrome |
|
Arrhythmia, Endocardial fibroelastosis, Congestive heart failure, Dilated cardiomyopathy, Hypertr... |
OMIM:302060 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Aortic regurgitation, Pulmona... |
ORPHA:2326 |
| Cardiac Valvular Defect, Developmental |
|
Tricuspid atresia, Hydrops fetalis, Arteria lusoria, Tricuspid regurgitation, Edema, Mitral steno... |
OMIM:212093 |
| American Trypanosomiasis |
|
Arrhythmia, Hepatomegaly, Congestive heart failure, Edema, Myocarditis, Periorbital edema, Pallor... |
ORPHA:3386 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology |
DECIPHER:39 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... |
OMIM:132900 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... |
OMIM:610338 |
| Morbid Obesity And Spermatogenic Failure |
|
Premature coronary artery atherosclerosis, Hepatic steatosis, Hypertension, Myocardial infarction... |
OMIM:615703 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Patent ductu... |
ORPHA:229 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin, Neonatal death, Congestive heart failure |
OMIM:301021 |
| Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Hepatomegaly, Congestive heart failure, Ascites, Cardiomegaly |
OMIM:269920 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Long philtrum, Cryptorchidism, Atrial septal defect, Truncus arteriosus, Ventricular septal defec... |
ORPHA:401935 |
| Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Arteriovenous fistula, Cerebral arteriovenous malformation, Abnormal heart mor... |
ORPHA:137667 |
| Aortic Valve Disease 3 |
|
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve |
OMIM:618496 |
| Xk Aprosencephaly Syndrome |
|
Anal atresia, Atrial septal defect, Narrow mouth, Ventricular septal defect |
ORPHA:3469 |
| Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ankyloglossia, Ventricular septal defect, Glossoptosis, Bilateral cl... |
OMIM:618021 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Ectopic anus, Cleft palate |
ORPHA:94066 |
| Transposition Of The Great Arteries, Dextro-Looped 1 |
|
Transposition of the great arteries |
OMIM:608808 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... |
OMIM:618780 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
| Carnitine Deficiency, Systemic Primary |
|
Elevated hepatic transaminase, Endocardial fibroelastosis, Hepatic steatosis, Decreased carnitine... |
OMIM:212140 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Palpitations, Hepatomegaly, Tachycardia, Pallor, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276556 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Premature skin wrinkling, Mitral valve calcification, Intracranial hemor... |
ORPHA:363618 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Elevated hepatic transaminase, Patent ductus arteriosus, Cholelithiasis, Do... |
OMIM:614886 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... |
OMIM:540000 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia |
OMIM:611878 |
| 46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Hypo... |
OMIM:618901 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Hypertension, Atrioventric... |
ORPHA:371428 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy, Ventricular septal defect |
OMIM:614947 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Arrhythmia, Elevated hepatic transaminase, Pleural effusion, Hepatocellular carcinoma,... |
OMIM:235200 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:604381 |
| Timothy Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Prolonged QT interval, Cardiomegaly, Patent ... |
OMIM:601005 |
| Wild Type Attr Amyloidosis |
|
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion, Pedal edema, ... |
ORPHA:330001 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Polyhydramnios, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function,... |
ORPHA:367 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis |
ORPHA:2868 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:255160 |
| Atrial Septal Defect 1 |
|
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... |
OMIM:108800 |
| Sandhoff Disease |
|
Hepatomegaly, Congestive heart failure, Cherry red spot of the macula |
ORPHA:796 |
| Naxos Disease |
|
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... |
ORPHA:34217 |
| Desminopathy |
|
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... |
ORPHA:98909 |
| Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... |
ORPHA:1461 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypothyroidism, Abnormal aortic morphology, Esophageal atresia, Abnorm... |
ORPHA:1923 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Hydrops fetalis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Ascit... |
OMIM:253250 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Hypertension, Bicuspid aortic valve, Pulmonary ar... |
OMIM:613355 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
T lymphocytopenia, Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, ... |
OMIM:619313 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... |
OMIM:607450 |
| Okamoto Syndrome |
|
Oligohydramnios, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal heart morp... |
ORPHA:2729 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Palpitations, Hepatomegaly, Tachycardia, Pallor, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276575 |
| Filippi Syndrome |
|
Cryptorchidism, Thin vermilion border, Short philtrum, Abnormality of dental morphology, Ventricu... |
OMIM:272440 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... |
OMIM:618652 |
| Apert Syndrome |
|
Delayed eruption of teeth, Cryptorchidism, Narrow palate, Ventricular septal defect, Esophageal a... |
OMIM:101200 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Right aortic arch, Situs inversus totalis |
OMIM:617577 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Dilatation of the sinus of Valsalva, Heart murmur, Congestive heart failure... |
ORPHA:1054 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Palpitations, Hepatomegaly, Tachycardia, Pallor, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276580 |
| Lymphatic Malformation 7 |
|
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... |
OMIM:617300 |
| Mitral Valve Prolapse 1 |
|
Mitral valve prolapse, Mitral regurgitation, Striae distensae |
OMIM:157700 |
| Noonan Syndrome 8 |
|
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pleural... |
OMIM:615355 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... |
OMIM:261740 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Duodenal atresia, Muscular ventricular septal defect, Tracheoesophageal fistu... |
OMIM:619227 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypochromic microcytic anemia, Hypothyroidism, Diaphragmatic eventration, Bilateral cryptorchidis... |
ORPHA:66634 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Neonatal death, Truncus arteriosus, Ventricular septal defect |
OMIM:228940 |
| Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Abnormal enzyme/coenzyme activity, Congestive heart failure, Abnormality o... |
ORPHA:132 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Arrhythmia, Oligohydramnios, Abnormal aortic valve morphology, Abnormal pulmonary valve morpholog... |
ORPHA:1194 |
| Maternal Phenylketonuria |
|
Long philtrum, Ventricular septal defect, Abnormal heart morphology, Esophageal atresia, Double o... |
ORPHA:2209 |
| Dyskinesia, Familial, With Facial Myokymia |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:606703 |
| Rheumatic Fever |
|
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... |
ORPHA:3099 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Ventricular septal defect, Reticulocytopenia, Normoc... |
OMIM:615550 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia |
OMIM:614435 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Arrhythmia, Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse, Bruis... |
ORPHA:230839 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... |
OMIM:616117 |
| Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Abnormal palate morph... |
ORPHA:261183 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect |
OMIM:300887 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Cryptorchidism, Macroglossia, Hypochromic microcytic anemia, Ventricular septal defect, Protrudin... |
OMIM:301040 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Polyhydramnios, Atrial septal defect, Congestive heart failure |
ORPHA:500533 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Abnormality of the dentition, Ventricular septal defect |
OMIM:616901 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Sudden cardiac death, Congestive ... |
OMIM:610198 |
| Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:324588 |
| Mitral Valve Prolapse 2 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:607829 |
| Mitral Valve Prolapse 3 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:610840 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... |
ORPHA:99103 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Abnormal aortic morphology, Cleft palate, High, na... |
ORPHA:2516 |
| Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Ventricular septal defect, Anal atresia, Congenital diaphragmatic hernia, O... |
OMIM:309801 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Ventricular septal defect |
ORPHA:83473 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Congestive heart failure, Hepati... |
OMIM:611126 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
| Polymyositis |
|
Arrhythmia, Pericarditis, Elevated aldolase level, Abnormal mitral valve morphology, Gastrointest... |
ORPHA:732 |
| Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure, Peripheral arteriovenou... |
ORPHA:141179 |
| Li-Campeau Syndrome |
|
Long philtrum, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hypothyroidism, P... |
OMIM:619189 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid regurgitation, Aortic valve... |
ORPHA:324410 |
| Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
| Noonan Syndrome 12 |
|
Supravalvular aortic stenosis, Tetralogy of Fallot, Polyhydramnios, Ventricular septal defect |
OMIM:618624 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Ventricular septal defect, High palate, Tetralogy of Fallot, Transposition ... |
ORPHA:1913 |
| Pericardial And Diaphragmatic Defect |
|
Partial diaphragmatic absence of pericardium, Palpitations, Atrial septal defect, Abnormal heart ... |
ORPHA:2847 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Polyhydramnios, Elevated hepatic transaminase, Ventricular septal defect, Abnormal left ventricul... |
OMIM:301056 |
| Lymphedema-Distichiasis Syndrome |
|
Arrhythmia, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Predominantly lower ... |
OMIM:153400 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Generalized arterial calcification, Hypertension, Myocardial infarction, Congestive heart failure... |
OMIM:208000 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Aortic root aneurysm, Persistent... |
OMIM:609008 |
| Gm1-Gangliosidosis, Type I |
|
Hydrops fetalis, Abnormal heart valve morphology, Hepatomegaly, Congestive heart failure, Decreas... |
OMIM:230500 |
| Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure, Peripheral arteriovenou... |
ORPHA:141184 |
| 8Q12 Microduplication Syndrome |
|
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Everted lower lip v... |
ORPHA:228399 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Int... |
ORPHA:210122 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect |
OMIM:614868 |
| Mental Retardation, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse, Striae distensae |
OMIM:130020 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tented upper lip vermilion... |
OMIM:600987 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Tachycardia |
OMIM:613870 |
| Wolcott-Rallison Syndrome |
|
Atrial septal defect, Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Jaundic... |
ORPHA:1667 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatomegaly, Hepatitis, Pallor, Skin ulcer, Hypertrophic cardiomyopathy |
ORPHA:848 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Peau d'orange, Gastrointestinal hemorrhage, Angina pectoris, Medial calcification of medium-sized... |
OMIM:177850 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... |
OMIM:617478 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft palate, Cleft upper lip, Ventricular septal defect |
OMIM:214300 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Oligohydramnios, Secundum atrial septal defect, Patent ductus arteriosus, Congestive heart failur... |
OMIM:616866 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect, Tricuspid regurgitation, Hepatic fibrosis, Portal ... |
OMIM:616589 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Paroxysmal at... |
ORPHA:392 |
| Woods Syndrome |
|
Thin vermilion border, Supernumerary nipple, Ventricular septal defect |
OMIM:615236 |
| Polyvalvular Heart Disease Syndrome |
|
Arrhythmia, Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic v... |
ORPHA:228410 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Dextrocardia, Situs inversus totalis |
ORPHA:66630 |
| Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies |
|
Flexion contracture, Thick vermilion border, Perimembranous ventricular septal defect, Congenital... |
OMIM:618651 |
| Classic Multiminicore Myopathy |
|
Mitral valve prolapse, Congestive heart failure, Right ventricular hypertrophy, Right ventricular... |
ORPHA:324604 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Patent ductus arteriosus |
ORPHA:2863 |
| Collagenoma, Familial Cutaneous |
|
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... |
OMIM:115250 |
| Primary Ciliary Dyskinesia |
|
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Atrial situ... |
ORPHA:244 |
| Transaldolase Deficiency |
|
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Oligohydramnios, Ventricular septal defe... |
OMIM:606003 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse, Petechiae, Bruising susceptibility, Striae distensae |
OMIM:225310 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Narrow palate, Hashimoto thyroiditis, Patent ductus arteriosus, Pulmonic st... |
OMIM:618223 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, ST segment depression, Hypertension, Abnormal cerebral artery morphology, Myocar... |
ORPHA:90065 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Smooth phil... |
ORPHA:1727 |
| Von Willebrand Disease, Type 1 |
|
Persistent bleeding after trauma, Prolonged bleeding after surgery, Prolonged bleeding time, Join... |
OMIM:193400 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Congestive heart failure |
OMIM:616794 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Pulmonary arterial hyperten... |
ORPHA:163956 |
| Fabry Disease |
|
Arrhythmia, Angina pectoris, Lymphedema, Hypertension, Myocardial infarction, Congestive heart fa... |
OMIM:301500 |
| Renal Tubular Dysgenesis |
|
Polyhydramnios, Tetralogy of Fallot, Oligohydramnios |
ORPHA:3033 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Myocardial infarction, Congestive heart failure, Coronary artery calcification, Hypertension |
OMIM:614473 |
| Warsaw Breakage Syndrome |
|
High palate, Tetralogy of Fallot, Wide mouth, Ventricular septal defect |
OMIM:613398 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Pallor |
ORPHA:46532 |
| Tako-Tsubo Cardiomyopathy |
|
Ventricular arrhythmia, Pulmonary edema, Prolonged QTc interval, Syncope, Cardiogenic shock, Decr... |
ORPHA:66529 |
| Noonan Syndrome 10 |
|
Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pleural effusion, Paten... |
OMIM:616564 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Broad secondary alveolar ridge, High palate, Ventricular septal defect |
OMIM:314320 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... |
OMIM:618974 |
| Aase-Smith Syndrome I |
|
Cleft palate, Flexion contracture, Open mouth, Ventricular septal defect |
OMIM:147800 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Aortic dissection, Mucoid extracellular matrix accumulation, Aortic aneurysm, Myxomatous mitral v... |
OMIM:130090 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... |
OMIM:612158 |
| Storm Syndrome |
|
Mitral valve calcification, Aortic valve stenosis, Excessive wrinkling of palmar skin, Early prog... |
OMIM:185069 |
| Joubert Syndrome 18 |
|
Camptodactyly, Ventricular septal defect |
OMIM:614815 |
| Autosomal Dominant Cutis Laxa |
|
Premature skin wrinkling, Abnormal heart valve morphology, Redundant skin, Cutis laxa, Pulmonic s... |
ORPHA:90348 |
| Noonan Syndrome 11 |
|
Palmoplantar cutis laxa, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:618499 |
| Tyshchenko Syndrome |
|
Cryptorchidism, Atrial septal defect, Narrow palate, Ventricular septal defect, Pulmonic stenosis... |
OMIM:615102 |
| Congenital Tricuspid Stenosis |
|
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... |
ORPHA:95459 |
| Refsum Disease, Classic |
|
Congestive heart failure, Cardiomegaly, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy |
ORPHA:1349 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated hepatic transaminase, Hepatic steatosis, Increased circulating lactate dehydrogenase con... |
ORPHA:99901 |
| African Iron Overload |
|
Micronodular cirrhosis, Abnormal heart morphology, Viral hepatitis, Hepatic steatosis, Hepatocell... |
ORPHA:139507 |
| Retinohepatoendocrinologic Syndrome |
|
Degenerative liver disease, Pallor |
OMIM:268040 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... |
OMIM:608406 |
| Hypertelorism And Tetralogy Of Fallot |
|
Patent foramen ovale, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, Paten... |
OMIM:239711 |
| Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Ventricular septal defect |
OMIM:619083 |
| Burn-Mckeown Syndrome |
|
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Hypomimic face, Ventri... |
OMIM:608572 |
| 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, Cerebral berry aneurysm, Hypertension, Mitral valve prolapse, Mitral regurgitation |
OMIM:173900 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Solitary median maxillary central incisor, M... |
OMIM:301043 |
| Lambert Syndrome |
|
Wide mouth, Ventricular septal defect |
ORPHA:1296 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Tetralogy of Fallot, Anal atresia, Abnormal palate morphology |
ORPHA:1381 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Prominent veins on trunk, Hepatic steatosis, Hypertension, Coronary artery atheroscler... |
ORPHA:79083 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism, Muscular ventricular septal defect, Intrinsic hand muscle atrophy |
OMIM:618569 |
| Naxos Disease |
|
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... |
OMIM:601214 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia |
OMIM:221950 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Restrictive cardio... |
ORPHA:758 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Interrupted aortic arch, Abnormal heart morphology, Patent ductus arteriosus, ... |
ORPHA:391641 |
| Polysyndactyly With Cardiac Malformation |
|
Polyhydramnios, Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts |
OMIM:263630 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Broad secondary alveolar ridge, High palate, Ventricular septal defect |
ORPHA:3369 |
| Primary Lipodystrophy |
|
Cirrhosis, Angina pectoris, Hepatic steatosis, Hypertension, Type IV atherosclerotic lesion, Cong... |
ORPHA:90970 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis |
OMIM:618948 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Ventricular septal defect, Reticulocytopenia, Leukopenia, Macrocytic anemia |
OMIM:612528 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cleft palate, High palate, Cleft upper lip, Ventricular septal defect |
OMIM:609654 |
| Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis |
OMIM:611884 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatic steatosis, Coronary artery atherosclerosis, Atherosclerosis, Hepatomegaly, Congestive hea... |
ORPHA:2348 |
| Mcdonough Syndrome |
|
Cryptorchidism, Short philtrum, Atrial septal defect, Diastasis recti, Ventricular septal defect,... |
OMIM:248950 |
| Oculoauriculofrontonasal Syndrome |
|
Narrow mouth, Ventricular septal defect, Cleft lip, Cleft palate, Broad philtrum |
ORPHA:398156 |
| 15Q14 Microdeletion Syndrome |
|
Long philtrum, Short philtrum, Atrial septal defect, Ventricular septal defect, Smooth philtrum, ... |
ORPHA:261190 |
| Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... |
ORPHA:2306 |
| Giant Cell Arteritis |
|
Arrhythmia, Pericarditis, Aortic dissection, Epistaxis, Sudden cardiac death, Double outlet right... |
ORPHA:397 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Serkal Syndrome |
|
Malrotation of small bowel, Ventricular septal defect, Oral cleft, Pulmonic stenosis, Congenital ... |
ORPHA:139466 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
| Diabetic Embryopathy |
|
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Cleft palate, Abnormality ... |
ORPHA:1926 |
| Optic Atrophy 8 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:616648 |
| Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus |
OMIM:601450 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Coarctation of aorta, Prolonged prothrombin time, Ventricular septal defect |
OMIM:616559 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Arrhythmia, Hydrops fetalis, Elevated hepatic transaminase, Cholestasis, Congestive heart failure... |
OMIM:609015 |
| Congenital Rubella Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly, Jaundice... |
ORPHA:290 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries |
OMIM:614779 |
| Kawasaki Disease |
|
Arrhythmia, Pericarditis, Abnormal heart valve morphology, Cholecystitis, Palmoplantar erythema, ... |
ORPHA:2331 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Elevated hepatic transaminase, Pleural effusion, Abnormal pericardium ... |
ORPHA:67 |
| Muscular Dystrophy, Duchenne Type |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Abnormal EKG |
OMIM:310200 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Syndromic Diarrhea |
|
Atrial septal defect, Thrombocytosis, Ventricular septal defect, Abnormal heart morphology, Hypot... |
ORPHA:84064 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
| Alagille Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis, Hypertension, Cholestasis, Pulmonic s... |
OMIM:610205 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Increased overbite, Ventricular septal defect |
OMIM:618504 |
| Arterial Tortuosity Syndrome |
|
Abnormal carotid artery morphology, Aortic aneurysm, Redundant skin, Hypertension, Telangiectasia... |
ORPHA:3342 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus totalis |
OMIM:613686 |
| Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve |
OMIM:615981 |
| Microscopic Polyangiitis |
|
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Epistaxis, Erythema, Congestive heart fail... |
ORPHA:727 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Coarctation of aor... |
ORPHA:284169 |
| Ritscher-Schinzel Syndrome 2 |
|
Cryptorchidism, Short philtrum, Atrial septal defect, Ventricular septal defect, Camptodactyly, P... |
OMIM:300963 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Purpura, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Hype... |
ORPHA:183 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... |
ORPHA:444013 |
| Ciliary Dyskinesia, Primary, 25 |
|
Dextrocardia, Situs inversus totalis |
OMIM:615482 |
| Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... |
OMIM:618280 |
| Angioosteohypertrophic Syndrome |
|
Gastrointestinal hemorrhage, Lymphedema, Telangiectasia of the skin, Pulmonary embolism, Congesti... |
ORPHA:2346 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Camptodactyly, Atrial septal defect, Ventricular septal defect |
OMIM:613458 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Mitral regurgitation, Atrial septal defect, Vascular ring, Ventricular septal defect |
OMIM:603387 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Atrial septal defect, Elevated hepatic transaminase, Giant cell hepatitis, Ven... |
OMIM:208085 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Edema, Polyhydramnios, Ventricular septal defect |
OMIM:607598 |
| Meacham Syndrome |
|
Cryptorchidism, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, ... |
ORPHA:3097 |
| Dextrocardia |
|
Situs inversus totalis, Congenital malformation of the great arteries, Abnormal heart morphology,... |
ORPHA:1666 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Oral cleft, Tetralogy of Fallot, Overriding aorta, Absent gallbladder, Median cleft lip |
ORPHA:3186 |
| Familial Progressive Cardiac Conduction Defect |
|
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope |
ORPHA:871 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Abnormal heart morphology, Camptodactyly, Hypoplasia of the thymus, Joint contrac... |
OMIM:214110 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Arrhythmia, Joint swelling, Hepatocellular carcinoma, Elevated jugular venous pressure... |
ORPHA:465508 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Thiamine... |
OMIM:249270 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... |
ORPHA:1120 |
| Chromosome 18Q Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis,... |
OMIM:601808 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Cutis laxa, Redundant skin, Peripheral pulmonary artery st... |
ORPHA:90349 |
| Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Ventricular septal defect, Wide mouth, Pulmonic stenosis, Hypertrophic card... |
OMIM:615279 |
| Noonan Syndrome 2 |
|
Polyhydramnios, Atrial septal defect, Abnormal coronary artery origin, Ventricular septal defect,... |
OMIM:605275 |
| German Syndrome |
|
Cryptorchidism, Camptodactyly of finger, Arthrogryposis multiplex congenita, Open mouth, Everted ... |
ORPHA:2077 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... |
OMIM:163800 |
| Camurati-Engelmann Disease, Type 2 |
|
Mitral valve prolapse, Mitral regurgitation, Elevated circulating alkaline phosphatase concentration |
OMIM:606631 |
| Retinitis Pigmentosa 27 |
|
Macular edema, Pallor |
OMIM:613750 |
| Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Complete atrioventricular canal defect |
OMIM:619142 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cryptorchidism, Ventricular septal defect, Absent pulmonary artery, Coarctation of aorta, Patent ... |
OMIM:600460 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration, Congestive heart failure, Hepatic steato... |
ORPHA:52430 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Excessive wrinkled skin, Arteriovenous malformation |
ORPHA:137608 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Dextrocardia, Abnormal tricuspid valve morphology |
ORPHA:1759 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Situs inversus totalis, Oligohydramnios, Biliary cirrhosis, Patent ductus a... |
OMIM:267010 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... |
ORPHA:137675 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Situs inversus totalis |
OMIM:615994 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral valve prolapse, Mitral regurgitation, Bruising susceptibility, Aortic regurgitation |
OMIM:225320 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal bleeding, Aortic dissection, Vascular dilatation, Arterial dissection, Congestive heart ... |
ORPHA:1900 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Cryptorchidism, Short philtrum, Drooling, Ventricular septal defect, Hypogonadism, High palate, T... |
ORPHA:3306 |
| Congenital Generalized Lipodystrophy |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly, Congestive heart failure, Prominent superficial veins... |
ORPHA:528 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... |
OMIM:617253 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Abnormal bleeding, Cirrhosis, Atrial septal defect, Elevated hepatic transaminase,... |
OMIM:614576 |
| Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Atrial septal defect, Pallor, Ventricular septal defect |
OMIM:609053 |
| Immune-Mediated Necrotizing Myopathy |
|
Palpitations, Congestive heart failure, Raynaud phenomenon, Myocarditis |
ORPHA:206569 |
| Gm1 Gangliosidosis |
|
Hydrops fetalis, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, ... |
ORPHA:354 |
| Roifman Syndrome |
|
Long philtrum, Noncompaction cardiomyopathy, Downturned corners of mouth, Ventricular septal defe... |
OMIM:616651 |
| Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... |
ORPHA:488618 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Lower limb hypertonia, Neutropenia, Abnorm... |
OMIM:169400 |
| Familial Bicuspid Aortic Valve |
|
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Aortic regurgit... |
ORPHA:402075 |
| Weill-Marchesani Syndrome |
|
Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect |
ORPHA:3449 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Long philtrum, Atrial septal defect, Ventricular septal defect, Abnormality of the anterior pitui... |
ORPHA:75389 |
| Pentalogy Of Cantrell |
|
Atrial septal defect, Ventricular septal defect, Absent gallbladder, Polysplenia, Abnormal perica... |
ORPHA:1335 |
| Fragile X Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm |
ORPHA:908 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Tetralogy of Fallot, Abnormality of the philtrum, Abnormality of the dentition |
ORPHA:276422 |
| Cap Myopathy |
|
Aortic root aneurysm, Mitral valve prolapse, Sinus tachycardia, Reduced systolic function |
ORPHA:171881 |
| Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Smooth philtrum, Cleft lip, Cleft palate, Dilated cardiomyopathy, High... |
OMIM:616730 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Long philtrum, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Thin upper li... |
ORPHA:508498 |
| Ciliary Dyskinesia, Primary, 20 |
|
Dextrocardia, Situs inversus totalis |
OMIM:615067 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Truncus arteriosus, Stillbirth, Oligohydramnios, Cholestasis, Hepatic fib... |
OMIM:615415 |
| Aphalangy With Hemivertebrae |
|
Ventricular septal defect |
OMIM:207620 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Johnson Neuroectodermal Syndrome |
|
Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Facial palsy, Cleft palate, H... |
OMIM:147770 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Situs inversus totalis, Hypertension, Hepatic cysts |
OMIM:613095 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft lip and palate, Cleft upper lip, Ventricular septal defect |
OMIM:601357 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Congenital muscular torticollis, Ectopic anus, Anal atresia, Cleft palate |
ORPHA:2345 |
| Ciliary Dyskinesia, Primary, 38 |
|
Dextrocardia, Situs inversus totalis |
OMIM:618063 |
| Char Syndrome |
|
Short philtrum, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arteriosus,... |
ORPHA:46627 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Autoimmune hemolytic anemia, Intestinal malrotation, Hashimoto thyroid... |
ORPHA:436252 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse |
OMIM:211960 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... |
ORPHA:3093 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... |
OMIM:264480 |
| Mental Retardation, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
| Monosomy 18Q |
|
Left aortic arch with right descending aorta and right ductus arteriosus, Pulmonary valve defects... |
ORPHA:1600 |
| Cednik Syndrome |
|
Congestive heart failure |
ORPHA:66631 |
| Emanuel Syndrome |
|
Long philtrum, Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Crypt... |
OMIM:609029 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Congestive heart failure, Hepatic failure, Predominantly lower limb lymphedema |
ORPHA:261519 |
| Hardikar Syndrome |
|
Elevated hepatic transaminase, Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly,... |
OMIM:612726 |
| Shashi-Pena Syndrome |
|
Atrial septal defect |
OMIM:617190 |
| Lambotte Syndrome |
|
Narrow mouth, Ventricular septal defect |
OMIM:245552 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618142 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Redundant neck skin, P... |
ORPHA:2519 |
| Thanatophoric Dysplasia |
|
Polyhydramnios, Atrial septal defect, Redundant skin, Patent ductus arteriosus, Increased nuchal ... |
ORPHA:2655 |
| Hutchinson-Gilford Progeria Syndrome |
|
Premature coronary artery atherosclerosis, Angina pectoris, Precocious atherosclerosis, Myocardia... |
OMIM:176670 |
| Noonan Syndrome With Multiple Lentigines |
|
Arrhythmia, Bundle branch block, Abnormal mitral valve morphology, Abnormal endocardium morpholog... |
ORPHA:500 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Protruding ton... |
OMIM:612938 |
| Velocardiofacial Syndrome |
|
Cryptorchidism, Right aortic arch with mirror image branching, Open mouth, Ventricular septal def... |
OMIM:192430 |
| Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Bicuspid aortic valve, Patent ... |
OMIM:619149 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse |
ORPHA:2233 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Eosinophilia, B lymphocytop... |
OMIM:603554 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Cryptorchidism, Short philtrum, Atrial septal defect, Open mouth, Ventricular septal defect, Camp... |
OMIM:301039 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Single ventricle, Stillbirth, Erythema |
OMIM:308050 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Long philtrum, Cryptorchidism, Narrow mouth, Ventricular septal defect, Patent ductus arteriosus,... |
OMIM:613457 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Arrhythmia, Chronic hepatic failure, Tricuspid regurgitation, Cholestasis, Congestive heart failu... |
ORPHA:746 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Smooth philtrum, Ventricular septal defect |
OMIM:602501 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Lymphedema, Mitral valve prolapse, Pulmonary lymphangiectasia |
OMIM:247410 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Dextrocardia, Tricuspid regurgitation, Coarctation of aorta |
OMIM:618929 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Camptodactyly, Thi... |
OMIM:617360 |
| Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Abnormal cardiac septum morphology |
OMIM:614294 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia, Elevated hepatic transaminase, Abnormal heart morphology, Increased circulating lacta... |
ORPHA:26791 |
| Thanatophoric Dysplasia Type 2 |
|
