| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... |
OMIM:619371 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Postnatal growth retardation, Tricuspid regurgitation, Peripheral ed... |
ORPHA:75249 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... |
OMIM:115197 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Cirrhotic Cardiomyopathy |
|
Pulmonary edema, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Hepatomegaly, Fourth he... |
ORPHA:57777 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... |
OMIM:619424 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... |
ORPHA:555874 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ... |
ORPHA:1677 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Polysplenia, Atrioventricular canal defect, Dextrotransp... |
OMIM:613751 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... |
OMIM:613854 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Right Atrial Isomerism |
|
Total anomalous pulmonary venous return, Polysplenia, Tetralogy of Fallot, Abdominal situs ambigu... |
OMIM:208530 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonary arterial hyp... |
OMIM:616028 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... |
OMIM:619313 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... |
ORPHA:99103 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Death in childhood, Spinal muscular atrophy, Ventricular... |
OMIM:253300 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Abnormal car... |
ORPHA:1937 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... |
ORPHA:99104 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
| Conotruncal Heart Malformations |
|
Transposition of the great arteries, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
| Heart Defects-Limb Shortening Syndrome |
|
Disproportionate short stature, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh... |
ORPHA:1354 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... |
OMIM:607941 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Indomethacin Embryofetopathy |
|
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis |
ORPHA:1909 |
| Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Complete atrioventricular canal defect |
OMIM:619142 |
| Sonoda Syndrome |
|
Short stature, Ventricular septal defect |
OMIM:270460 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... |
OMIM:620203 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Elevated circulating aspartate aminotransferase concentration, Death in infancy, Ventricular sept... |
OMIM:614876 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Torticollis, Short stature, Pulmonic stenosis |
OMIM:249670 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... |
ORPHA:555877 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cardiomegaly, Peri... |
OMIM:620135 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Cholestasis, Pleural effusion, Mitral valve prolapse, Pulmonary arterial... |
OMIM:620233 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... |
ORPHA:70591 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:254351 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect |
OMIM:217085 |
| Megabladder, Congenital |
|
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... |
OMIM:618719 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... |
ORPHA:3282 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Short stature, Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Hepatic bridging fibrosis, Portal inflammation, Death in childhood, Ventricular septal defect, El... |
OMIM:613759 |
| White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Cirrhosis, Atrial septal defect, H... |
ORPHA:101028 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
| Nemaline Myopathy 9 |
|
Polyhydramnios, Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect |
OMIM:615731 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... |
OMIM:619702 |
| Cardiomyopathy, Dilated, 2J |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... |
OMIM:620635 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Nestor-Guillermo Progeria Syndrome |
|
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Hypertension, Left atrial enl... |
OMIM:614008 |
| Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Ventricular septal defect, Atrial septal defect, Stillbirth, Polyhydramnios |
OMIM:263630 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... |
OMIM:612098 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... |
ORPHA:2041 |
| Congenital Myopathy 11 |
|
Elevated circulating hepatic transaminase concentration, Patent foramen ovale, Weakness of facial... |
OMIM:619967 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Right atrial enlargement, Atrial septal defect |
OMIM:615219 |
| 3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Congestive heart failure, Postnatal growth retardation, Intrauterine grow... |
OMIM:610198 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... |
ORPHA:1209 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Feingold Syndrome 2 |
|
Short stature, Postnatal growth retardation, Ventricular septal defect |
OMIM:614326 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Catel-Manzke Syndrome |
|
Short stature, Atrial septal defect, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1388 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:614096 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... |
ORPHA:154 |
| Feingold Syndrome Type 2 |
|
Short stature, Ventricular septal defect |
ORPHA:391646 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... |
OMIM:616276 |
| Pseudotrisomy 13 Syndrome |
|
Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextroca... |
OMIM:264480 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... |
OMIM:614262 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short stature, Growth delay, Atrial septal defect |
ORPHA:52056 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Intrauterine growth retardation, Neonatal death, Nonimmune hydrops fetalis, Pulmo... |
OMIM:619003 |
| Lambert Syndrome |
|
Cholestasis, Intrauterine growth retardation, Ventricular septal defect, Intrahepatic biliary atr... |
ORPHA:1296 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function, Ventricular septal defect |
ORPHA:306550 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal... |
ORPHA:49827 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Neonatal death, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:615524 |
| Meier-Gorlin Syndrome 7 |
|
Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ... |
OMIM:617063 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short stature, Atrial septal defect |
OMIM:113301 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Intrauterine growth retardation, Bicuspid aortic valve, Atrial septal defect, Short stature, Grow... |
OMIM:617744 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Down Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... |
OMIM:190685 |
| Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Noonan Syndrome 11 |
|
Short stature, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:618499 |
| Hamamy Syndrome |
|
Mitral regurgitation, Prolonged QRS complex, Complete atrioventricular canal defect, Atrial septa... |
OMIM:611174 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... |
OMIM:619167 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Partial atrioventricular canal defect, Hepatic steatosis, Ventricular sep... |
OMIM:615996 |
| Leopard Syndrome 1 |
|
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Delayed menarche, Bundle branch... |
OMIM:151100 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Death in infancy, Ventricular septal defect |
OMIM:613730 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Elevated circula... |
OMIM:620609 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Intrauterine growth retardati... |
OMIM:606003 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Proportionate short stature |
OMIM:617044 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Intrauterine gr... |
OMIM:620294 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormal tric... |
ORPHA:90308 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr... |
OMIM:607598 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:208085 |
| Li-Campeau Syndrome |
|
Short stature, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:619189 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L... |
OMIM:615355 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defe... |
OMIM:249270 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... |
OMIM:601927 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... |
OMIM:614582 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... |
OMIM:300257 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect |
ORPHA:476126 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Short stature, Atrial septal defect, Death in infancy |
ORPHA:93946 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Death in infancy, Ventricular septal defect |
OMIM:616277 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:261243 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal defect, Neonatal death |
OMIM:617925 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Intrauterine growth retardation, Neonatal death, Death in adolescence, ... |
OMIM:619751 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Intrauterine growth retardation, Complete atrioventricular canal defect, Ventri... |
OMIM:236680 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Short stature, Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Cardiomyopathy, Intrauterine growth retardation, Death in infancy, Neon... |
OMIM:618839 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... |
ORPHA:1880 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Short stature, Pulm... |
OMIM:615279 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Death in ... |
OMIM:618835 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Developmental And Epileptic Encephalopathy 18 |
|
Polyhydramnios, Aortic regurgitation, Oligohydramnios, Atrial septal defect |
OMIM:615476 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... |
OMIM:300887 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Tyshchenko Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Polyhydramnios,... |
OMIM:615102 |
| Glycogen Storage Disease Iv |
|
Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hyp... |
OMIM:232500 |
| Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Splenomegaly, Ventricular septal defect, Hepatomegaly, Atrial se... |
ORPHA:290 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... |
OMIM:208540 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Neonatal death |
OMIM:601612 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Sh... |
OMIM:612946 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of... |
ORPHA:1913 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Short stature, Pulmonic s... |
ORPHA:3449 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... |
OMIM:108800 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Ascites, Cholestasis, Intrauterine growth retardation, Oligohydramnios,... |
OMIM:608104 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Lymphedema |
OMIM:223350 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... |
OMIM:616867 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:618496 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:614475 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... |
OMIM:612561 |
| Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Growth delay, Atrial septal defect |
OMIM:620211 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Tricuspid regurgitation, Congenital diaphragmatic hernia, Abnormal... |
ORPHA:1120 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca... |
OMIM:613870 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... |
OMIM:613426 |
| Holt-Oram Syndrome |
|
Atrioventricular dissociation, Mitral regurgitation, Hypoplasia of deltoid muscle, Mitral valve p... |
OMIM:142900 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
| Ebstein Anomaly |
|
Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At... |
OMIM:224700 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... |
OMIM:618652 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... |
OMIM:252011 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Oligohydramnios, Situs... |
OMIM:267010 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Decreased muscle mass, Congestive heart failure, Facial hypotonia, Atrial septal defect, Polyhydr... |
ORPHA:500533 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect |
OMIM:616816 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ... |
ORPHA:392 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
| 8Q24.3 Microdeletion Syndrome |
|
Infancy onset short-trunk short stature, Gastrointestinal hemorrhage, Abnormal heart morphology, ... |
ORPHA:508488 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Noonan Syndrome 12 |
|
Polyhydramnios, Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal defect |
OMIM:618624 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... |
ORPHA:210122 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Intrauterine growth retarda... |
OMIM:614576 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death |
OMIM:276822 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect |
OMIM:619717 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Abnormal tricuspid valve morphology, Ventricular septal defect |
ORPHA:3405 |
| 20P12.3 Microdeletion Syndrome |
|
Short stature, Atrial septal defect, Wolff-Parkinson-White syndrome |
ORPHA:261295 |
| Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio... |
OMIM:616843 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Postnatal growth retardation, Increased nuchal translucency, Patent foramen ovale, V... |
OMIM:615668 |
| Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Tetralogy of Fallot, Postnatal growth retardation, Ventricular sep... |
OMIM:179613 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... |
OMIM:220210 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Second degree atrioventricular block, Decreased liver function, Ascites, Intrauterine growth reta... |
OMIM:617021 |
| Developmental And Epileptic Encephalopathy 102 |
|
Hepatomegaly, Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Polysplenia, Mitral atresia, Atrioventricular canal defe... |
OMIM:616749 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... |
OMIM:616501 |
| Cardiac Valvular Dysplasia 1 |
|
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Tricuspid re... |
OMIM:212093 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, Short stat... |
ORPHA:88630 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de... |
OMIM:616866 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Pedal edema, Ventricular septal defect |
OMIM:126320 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Polyhydramnios, Rhizomelic arm shortening, Secundum atrial septal defect |
ORPHA:96190 |
| Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Congenital contracture, Abnormal heart morphology, Joint contractu... |
ORPHA:352490 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Hypoplastic spleen, Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Coffin-Siris Syndrome 5 |
|
Short stature, Intrauterine growth retardation, Atrial septal defect |
OMIM:616938 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... |
ORPHA:97214 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Truncus arteriosus,... |
OMIM:616589 |
| Even-Plus Syndrome |
|
Severe short stature, Oligohydramnios, Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent... |
ORPHA:26793 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... |
ORPHA:1478 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Polyhydramnios, Atrial septal defect |
ORPHA:466926 |
| Diamond-Blackfan Anemia 4 |
|
Short stature, Growth delay, Atrial septal defect |
OMIM:612527 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Intrauterine growth retardation, Disproportionate short-limb short statur... |
ORPHA:2772 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... |
OMIM:620570 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating hepatic transaminase concentration, Atrial septal defect, Decreased liver fu... |
OMIM:615160 |
| Fanconi Anemia, Complementation Group O |
|
Abnormal heart morphology, Death in infancy, Neonatal death, Small thenar eminence, Short stature... |
OMIM:613390 |
| Roifman Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Splenomegaly, Hip contracture, Ven... |
OMIM:616651 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Pedal edema, Systolic heart m... |
ORPHA:2299 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Postnatal growth retardation, Splenomegaly, Ventricular septal defect, Hepatomegaly, Short stature |
OMIM:620210 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
| Meacham Syndrome |
|
Hypoplastic left heart, Accessory spleen, Aplasia of the right hemidiaphragm, Tetralogy of Fallot... |
OMIM:608978 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Shoulder girdle muscle weakness, Patent foramen ovale, Myopathy, Pelvic girdle muscle weakness, G... |
OMIM:615156 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Lymphatic Malformation 13 |
|
Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Nonimmune hydrops fetalis, Neona... |
OMIM:620244 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Abdominal situs inversus, Atria... |
OMIM:617205 |
| Alagille Syndrome 2 |
|
Cholestatic liver disease, Tetralogy of Fallot, Cholestasis, Atrial septal defect, Hypertension, ... |
OMIM:610205 |
| Serkal Syndrome |
|
Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal defect, Growth delay, Pulmon... |
ORPHA:139466 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:401935 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Intrauterine growth retardation, Hypoplastic right heart, Atrial septal defect, Ventricular septa... |
OMIM:618142 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Elevated circulating aspartate amin... |
OMIM:620300 |
| Joubert Syndrome 18 |
|
Camptodactyly, Intrauterine growth retardation, Intrahepatic biliary atresia, Ventricular septal ... |
OMIM:614815 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal ... |
OMIM:618775 |
| Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... |
OMIM:601005 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Atrial septal defect |
ORPHA:261272 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Neonatal death, Transposition of the great arteries, Dextrocardia,... |
OMIM:314390 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Multiple muscular ventricular septal defects, Death in infancy, Short stature, Atrial septal defe... |
OMIM:620070 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Atrial septal defect, Mitral stenosis, Mitral atresia |
ORPHA:2248 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:261120 |
| Absence Of The Pulmonary Artery |
|
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph... |
ORPHA:980 |
| Developmental And Epileptic Encephalopathy 90 |
|
Limb hypertonia, Atrial septal defect |
OMIM:301058 |
| 3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Postnatal growth retardation,... |
ORPHA:7 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Atrial septal defect, Bile duct proliferation, Ventricular septa... |
OMIM:611134 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Intrau... |
OMIM:601186 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Short stature, Postnatal growth retardation, Ventricular septal defect |
ORPHA:3369 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Postnatal growth retardation, Diastasis recti, Ventricular septal defe... |
ORPHA:254534 |
| Thanatophoric Dysplasia |
|
Disproportionate short-limb short stature, Intrauterine growth retardation, Increased nuchal tran... |
ORPHA:2655 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect |
OMIM:617364 |
| Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat... |
OMIM:614921 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:613404 |
| Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
| Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... |
ORPHA:2847 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... |
OMIM:619608 |
| Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Polyhydramnios, Short stature, Pul... |
OMIM:611553 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatic failure, Dilated cardiomyopathy, Anasarca, Third degree atrioventricular block, Ascites, ... |
OMIM:619573 |
| Wolcott-Rallison Syndrome |
|
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Abnormal... |
ORPHA:1667 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Hypertrophic cardiomyopathy, Atrial septal defect, Hepatomegaly, Severe short-limb dw... |
ORPHA:1842 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Atrioventricular canal defect, Postnatal growth retardation, Intrauterine growth retardation, Sho... |
OMIM:613792 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... |
ORPHA:363705 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect, Patent foramen ovale |
OMIM:619149 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Generalized edema, Tetralogy of Fallot, Death in infancy, Truncus arteriosus, Ventricular septal ... |
OMIM:617478 |
| Genitopalatocardiac Syndrome |
|
Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect |
OMIM:231060 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ... |
OMIM:618870 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Short stature, Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
| Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Cardiomyopathy, Decreased liver function, Hepatic steatosis, Myopathy, Neonatal death, Death in c... |
OMIM:614922 |
| Seckel Syndrome 9 |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricular septal defect, Atri... |
OMIM:616777 |
| 16P12.1P12.3 Triplication Syndrome |
|
Abnormal heart morphology, Intrauterine growth retardation, Abnormal tricuspid valve morphology, ... |
ORPHA:485405 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Abdominal situs inversus, Atrial reentry tachycardia, At... |
OMIM:270100 |
| Abruzzo-Erickson Syndrome |
|
Short stature, Atrial septal defect |
ORPHA:921 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Left atrial isomerism, Polysplenia, Atrioventricular canal defect, Abdominal situs inversus, Situ... |
OMIM:605376 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Short stature, Ventricular septal defect |
OMIM:314320 |
| Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Short stature, Right ventr... |
OMIM:614261 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Short stature, Arterial rupture, Atrial septal defect |
OMIM:619115 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Death in childhood, Death in inf... |
OMIM:619334 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:1166 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... |
OMIM:620642 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Short stature, Atrial septal defect |
ORPHA:1035 |
| Methimazole Embryofetopathy |
|
Polyhydramnios, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:1923 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... |
ORPHA:99094 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Short stature, Atrial septal defect |
OMIM:615502 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Splenomegaly, Ventricular septal defect, Hepatomegaly, Pulmonary arterial hypert... |
OMIM:608149 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Polyhydramnios, Facial hypotonia, Atrial septal defect |
OMIM:611087 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Intrauterine growth retardation, Bund... |
ORPHA:500 |
| Trisomy X |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3375 |
| Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Filippi Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect |
OMIM:272440 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Abnormal mesentery morphology, Ventricular septal defect |
ORPHA:2256 |
| Transketolase Deficiency |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Proportionate short s... |
ORPHA:488618 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Rhabdomyolysis, Decreased liver function, Dehydration, Neonatal death |
OMIM:602199 |
| Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Camptodactyly... |
OMIM:619123 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Intrauterine growth retardation, Secundum atrial septal defect, Limb hypertonia, Ventricular sept... |
OMIM:619909 |
| Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:245552 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Intrauterine growth retardation, Atrial septal defect |
ORPHA:521308 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Intrauterine growth ret... |
ORPHA:251071 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Ventricular septal defect, Perimembranous ventricular septal defec... |
OMIM:600987 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl... |
OMIM:620454 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste... |
OMIM:614300 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal heart morphology, Oligohydramnios, Increased nuchal translucency, Patent foramen ovale, ... |
OMIM:618494 |
| Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Left ventricular hypertrophy, Atri... |
OMIM:620510 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Ventricular septal defect, Hepatome... |
OMIM:615630 |
| Thanatophoric Dysplasia Type 2 |
|
Polyhydramnios, Increased nuchal translucency, Short stature, Atrial septal defect |
ORPHA:93274 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Desbuquois Syndrome |
|
Severe short stature, Disproportionate short-limb short stature, Camptodactyly of finger, Ventric... |
ORPHA:1425 |
| Burn-Mckeown Syndrome |
|
Short stature, Hypomimic face, Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... |
ORPHA:542306 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... |
OMIM:619657 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:2516 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Splenomegaly, Atrial septal defect, Hepatomegaly, Hydrops fetalis, Pericardial effusion |
OMIM:608776 |
| Criss-Cross Heart |
|
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... |
ORPHA:1461 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Camptodactyly, Mitral regurgitation, Atrial septal defect, Ventricular septal defect |
OMIM:301039 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... |
OMIM:615474 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... |
OMIM:603387 |
| Pseudo-Torch Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ... |
OMIM:617397 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pleural effusion, Ventricu... |
OMIM:616897 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... |
OMIM:619542 |
| Scimitar Syndrome |
|
Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea... |
ORPHA:185 |
| Potocki-Lupski Syndrome |
|
Short stature, Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Hepatic steatosis, V... |
ORPHA:254346 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Short stature, Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Coffin-Siris Syndrome 6 |
|
Short stature, Atrial septal defect, Diaphragmatic eventration |
OMIM:617808 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral stenosis, Mi... |
OMIM:616564 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex ... |
OMIM:253310 |
| Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
| Alagille Syndrome |
|
Cholestasis, Intrauterine growth retardation, Reduced number of intrahepatic bile ducts, Ventricu... |
ORPHA:52 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Aase-Smith Syndrome I |
|
Flexion contracture, Death in infancy, Ventricular septal defect |
OMIM:147800 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Short stature, ... |
OMIM:617452 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Intrauterine growth retardation, Patent foramen ovale, Limb hypertonia, Atrial septal defect, Lim... |
OMIM:620327 |
| Prune Belly Syndrome |
|
Tetralogy of Fallot, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Aplasia of... |
ORPHA:2970 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
| Fanconi Anemia, Complementation Group Q |
|
Short stature, Growth delay, Primum atrial septal defect, Biliary atresia |
OMIM:615272 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Intrauterine growth retardation, Increased nuchal translucency, Secundum atrial septal defect |
OMIM:620183 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Coffin-Siris Syndrome 7 |
|
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Polyhydr... |
OMIM:618027 |
| Tarp Syndrome |
|
Hepatic failure, Subdural hemorrhage, Tetralogy of Fallot, Intrauterine growth retardation, Oligo... |
OMIM:311900 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Intrauterine growth retardation, Oligohydramnios, Congenital diaphragmatic... |
OMIM:609029 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Patent foramen ovale |
OMIM:618821 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Intrauterine growt... |
OMIM:612562 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Mitral regurgitation, Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Double ... |
OMIM:614886 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Ventricular septal defect |
OMIM:619908 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Sho... |
OMIM:610733 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Tricuspid regurgitation, Intrauterine growth retardation, Mitral valve prolapse, Dysplastic tricu... |
OMIM:612863 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Hypoplast... |
OMIM:265380 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Intrauterine growth retardation, Heart murmur, Atrial septal defect |
ORPHA:2728 |
| Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect, Postnatal growth retardation, Death in infancy |
OMIM:619135 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defect of the pericardium, Tetralo... |
ORPHA:2255 |
| Galloway-Mowat Syndrome 7 |
|
Short stature, Dilated cardiomyopathy, Edema, Ventricular septal defect |
OMIM:618348 |
| Tetrasomy 15Q26 |
|
Camptodactyly, Intrauterine growth retardation, Atrial septal defect |
OMIM:614846 |
| Jansen-De Vries Syndrome |
|
Short stature, Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect |
OMIM:617450 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:618205 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Facial hypotonia, Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse, Camptodactyly |
OMIM:615539 |
| Insulin-Like Growth Factor I, Resistance To |
|
Severe short stature, Intrauterine growth retardation, Patent foramen ovale, Ventricular septal d... |
OMIM:270450 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... |
ORPHA:477817 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Short stature, EMG: myopathic abnormalities, Atrioventricular canal defect |
ORPHA:2549 |
| Contractural Arachnodactyly, Congenital |
|
Calf muscle hypoplasia, Elbow flexion contracture, Mitral regurgitation, Hip contracture, Mitral ... |
OMIM:121050 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Decreased liver function, Congestive hear... |
OMIM:608779 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Short stature, Death in childhood, Death in infancy, Ventricular septal defect |
OMIM:616901 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Tetralogy o... |
OMIM:600001 |
| Al Kaissi Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Atrial septal defect, Torticollis,... |
OMIM:617694 |
| Mogs-Cdg |
|
Generalized edema, Hepatosplenomegaly, Pulmonary edema, Cardiomegaly, Left ventricular hypertroph... |
ORPHA:79330 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Short stature, ... |
ORPHA:505237 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defect, Atrial septal d... |
OMIM:609053 |
| White Forelock With Malformations |
|
Atrial septal defect |
ORPHA:2475 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Cholestasis, Congenital hepatic fibrosis, Ventricular s... |
OMIM:619534 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Abnormal heart valve morphology, Tendon rupture, Tricuspid regurgitation, M... |
ORPHA:230851 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Short stature, Bicuspid aortic valve, Hypoplastic left heart, Atrial septal defect |
OMIM:619721 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Proportionate short stature |
OMIM:609654 |
| Trisomy 13 |
|
Intrauterine growth retardation, Hydrops fetalis, Atrial septal defect, Ventricular septal defect |
ORPHA:3378 |
| Lethal Kniest-Like Dysplasia |
|
Mesomelic/rhizomelic limb shortening, Atrial septal defect, Polyhydramnios, Severe short-limb dwa... |
ORPHA:2347 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Abnormal heart morphology, Camptodactyly of toe, Atrial septal def... |
OMIM:175700 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Ventricular septal defect |
ORPHA:93267 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Intrauterine growth retardation, Mitral stenosis, D... |
ORPHA:2008 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Rhizomelia, Intrauterine growth retardation, Ventricular septal defect, Sub... |
OMIM:614114 |
| Noonan Syndrome 9 |
|
Short stature, Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Death in childhood, Ventricular sep... |
OMIM:612938 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Fetal Alcohol Syndrome |
|
Short stature, Intrauterine growth retardation, Congenital diaphragmatic hernia, Atrial septal de... |
ORPHA:1915 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618950 |
| Noonan Syndrome 7 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Short stature, Growth delay, Pulmonic stenosis |
OMIM:613706 |
| Lowry-Maclean Syndrome |
|
Abnormality of the abdominal organs, Atrioventricular canal defect, Intrauterine growth retardati... |
ORPHA:2409 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Abnormal heart valve morphology, Intrauterine growth retardation, Oligoh... |
ORPHA:99776 |
| Zechi-Ceide Syndrome |
|
Abnormal heart morphology, Atrial septal defect |
ORPHA:217017 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
ORPHA:329224 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Mitral stenosis, Atrial septal defect, Short stature |
OMIM:617660 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Intrauterine growth retardation, Oligohydramnios,... |
OMIM:617022 |
| Noonan Syndrome 2 |
|
Arthrogryposis multiplex congenita, Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular... |
OMIM:605275 |
| Keutel Syndrome |
|
Short stature, Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:85202 |
| 20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Hematochezia, Oligohydramnios, Atrial septal defect, Facia... |
ORPHA:261311 |
| Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Common atrium |
OMIM:619143 |
| Lujan-Fryns Syndrome |
|
Atrial septal defect, Camptodactyly of finger |
ORPHA:776 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth retardation, Ventricular s... |
OMIM:613398 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Exocrine pancreatic insufficiency, Death in infancy, Ventricular septal defect |
ORPHA:452 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Growth delay, Atrial septal defect |
OMIM:614857 |
| Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Postnatal growth retardation, Intrauterine growth retardation, Atr... |
OMIM:300867 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Intrauterine growth retardation, Interface hepatitis, Death in childhood, Death in ... |
OMIM:243150 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... |
ORPHA:363444 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
| Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Epistaxis, Upper eyelid edema, Patent foramen ovale, Short s... |
ORPHA:293939 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Intrauterine growth retardation, Oligohydramnios, Congenital diaphragmatic... |
ORPHA:96170 |
| Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Patent foramen ovale, Abnormal cardiac septum morphology |
OMIM:615009 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Intrauterine growth retardation, Atrial septal defect, Joint contracture, Polyhydramnios, Short s... |
OMIM:618005 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect |
OMIM:241310 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Postnatal growth retardation, Intrauterine growth retardation, Patent foramen ovale, Arrhythmia, ... |
OMIM:619184 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Abnormal heart morphology, Patent foramen ovale, Ventricular se... |
ORPHA:369891 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Cholestasis, Intrauterine growth retardation, Hepa... |
OMIM:614866 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Truncus arteriosus, Ventricular septal... |
ORPHA:3426 |
| Filippi Syndrome |
|
Severe short stature, Intrauterine growth retardation, Ventricular septal defect, Short stature, ... |
ORPHA:3255 |
| Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Camptodactyly of finger |
ORPHA:896 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Hepatic fibrosis, Abnormal heart morphology, Tetralogy of Fallot, Intrauter... |
ORPHA:84064 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Retroperitoneal fibrosis, Pancreatic hypoplasia, Camptodactyly of finger, Elbow flexion contractu... |
OMIM:602782 |
| Diamond-Blackfan Anemia 5 |
|
Short stature, Ventricular septal defect |
OMIM:612528 |
| Alazami Syndrome |
|
Postnatal growth retardation, Atrial septal defect |
ORPHA:319671 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal heart morphology, Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect |
ORPHA:500159 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Ventricular septal defect |
OMIM:616037 |
| Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, Atrial septal defect |
OMIM:618354 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating hepatic transaminase concentration, Arthrogryposis multiplex congenita, Intr... |
OMIM:301056 |
| Pentalogy Of Cantrell |
|
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Congenital... |
ORPHA:1335 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Polyhydramnios, Abnormal heart morphology, Neonatal death |
OMIM:619362 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Aortic regurgitation, Mitral regurgitation, Patent foramen ovale, Bicuspid... |
OMIM:614823 |
| Verheij Syndrome |
|
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect, Short stature, Gr... |
OMIM:615583 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... |
ORPHA:453499 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Overriding aorta, Double outlet right ventricle, Atrial septal defect, Pulmo... |
ORPHA:3304 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Mitral regurgitation, Proportionate short stature, Supraventricular tach... |
ORPHA:404443 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Flexion contracture, Atrial septal defect |
OMIM:619383 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Intrauterine growth retardation, Ventricular septal defect, Camptodactyly, Atrial septal defect, ... |
OMIM:617360 |
| Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Atrial septal defect |
OMIM:614526 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co... |
ORPHA:3097 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... |
ORPHA:70 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia |
OMIM:618929 |
| Noonan Syndrome 3 |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... |
OMIM:609942 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Intrauterine growth retardation, Ventricular septal defect |
OMIM:617751 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Secundum atrial septal defec... |
OMIM:618109 |
| Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu... |
OMIM:617201 |
| Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Camptodactyly of finger, Intrauterine growth retardation, Ventricu... |
OMIM:244300 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ... |
OMIM:618280 |
| Intellectual Disability-Strabismus Syndrome |
|
Joint contracture of the hand, Intrauterine growth retardation, Congenital diaphragmatic hernia, ... |
ORPHA:363528 |
| Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular... |
OMIM:115470 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Lymphedema, Ascites, Pancreatic lymphangiectasis, Polyhydramnios, Splenomegaly, ... |
OMIM:235255 |
| Myopathy With Extrapyramidal Signs |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Ventricular septal defect,... |
OMIM:615673 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal... |
ORPHA:3071 |
| Truncus Arteriosus |
|
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retarda... |
ORPHA:3384 |
| Primary Pulmonary Hypoplasia |
|
Intrauterine growth retardation, Secundum atrial septal defect, Abnormal hemidiaphragm morphology... |
ORPHA:2257 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Ventricular septal defe... |
ORPHA:369929 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Death in childhood, Atrial s... |
OMIM:617303 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Growth delay, Ventricular septal defect |
ORPHA:3306 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Spondylo-Ocular Syndrome |
|
Short stature, Disproportionate short-trunk short stature, Facial hypotonia, Ventricular septal d... |
ORPHA:85194 |
| Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect |
ORPHA:2345 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:371428 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C... |
OMIM:301068 |
| Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Atrial septal defect |
ORPHA:79113 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Short stature, Intrauterine growth retardation, Atrial septal defect, Abnormal mitral valve morph... |
ORPHA:1292 |
| Stevenson-Carey Syndrome |
|
Camptodactyly, Joint contracture of the hand, Atrial septal defect |
OMIM:611961 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Short stature, Macroglossia, Growth delay, Atrial septal defect |
ORPHA:93947 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Ventricular septal defect,... |
ORPHA:99050 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Short stature, Growth delay, Atrial septal defect, Ventricular septal defect |
ORPHA:457193 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:618282 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect |
ORPHA:2519 |
| Bdv Syndrome |
|
Delayed puberty, Atrial septal defect |
OMIM:619326 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios, Patent foramen ov... |
OMIM:620113 |
| Braddock-Carey Syndrome 1 |
|
Camptodactyly, Growth delay, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
| Agnathia-Otocephaly Complex |
|
Polyhydramnios, Situs inversus totalis, Secundum atrial septal defect |
OMIM:202650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Growth delay, Contracture of the proximal interphalangeal joint of the 2nd finger, Intrauterine g... |
OMIM:300998 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
| Cooper-Jabs Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1488 |
