Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ... |
OMIM:600309 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Left ventricular outflow tract obstruction, Hyp... |
OMIM:613854 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Aortic Arch Interruption |
|
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary wi... |
ORPHA:2299 |
Scimitar Syndrome |
|
Truncus arteriosus, Hypoplasia of the diaphragm, Heart block, Abnormal vena cava morphology, Abno... |
ORPHA:185 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect, Ri... |
OMIM:231060 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... |
OMIM:614954 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... |
OMIM:618845 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
OMIM:614676 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Ascending tubular aorta aneurysm, Left vent... |
ORPHA:3092 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Polyhydramnios, Unbalanced atrioventricular canal defect, Cardiac ... |
OMIM:619534 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... |
OMIM:249670 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Coarc... |
ORPHA:3426 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Pulmonary arterial hypertension, Perimembranous v... |
ORPHA:1457 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... |
OMIM:220210 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Distichiasis, Peripheral arteri... |
OMIM:126320 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Frontal hirsutism, Atrial septal defect,... |
ORPHA:3304 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Indomethacin Embryofetopathy |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... |
ORPHA:79094 |
Congenital Gerbode Defect |
|
Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur... |
ORPHA:99095 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia |
OMIM:617021 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Patent ductus arteriosus, Anomalous origin of left pulmonary artery from ascending aorta, Left ve... |
ORPHA:99050 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Supravalvular aorti... |
ORPHA:1461 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... |
OMIM:618782 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... |
OMIM:616276 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:618316 |
Ebstein Malformation Of The Tricuspid Valve |
|
Patent ductus arteriosus, Imperforate tricuspid valve, Sudden cardiac death, Right bundle branch ... |
ORPHA:1880 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:610840 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Right atrial isomeris... |
OMIM:306955 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... |
ORPHA:2248 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Dilated cardiomyopathy, Con... |
ORPHA:2326 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Highly arched eyebrow, Ventricular septal defect |
ORPHA:251076 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... |
OMIM:619343 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the pulmonary artery,... |
ORPHA:1354 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Tropical Endomyocardial Fibrosis |
|
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ve... |
ORPHA:75565 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Patent duct... |
OMIM:270100 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... |
OMIM:601927 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
Fetal Minoxidil Syndrome |
|
Generalized hirsutism, Ventricular septal defect |
ORPHA:1918 |
Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Elevated pulmonary artery pressure, Ascending tub... |
ORPHA:99094 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Abnormal number of hair ... |
OMIM:618164 |
Truncus Arteriosus |
|
Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Ventricular septal defect, Interrupte... |
ORPHA:3384 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:615297 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy |
OMIM:619492 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Aortic tortuosity, Mitral valve prolapse, Ascending aortic dissection, Thoracic aortic aneurysm, ... |
OMIM:616166 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... |
OMIM:314400 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
Cardiac Valvular Dysplasia 1 |
|
Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aortic arch wi... |
OMIM:212093 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... |
OMIM:601005 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... |
OMIM:612561 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fall... |
OMIM:300887 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Aortopulmonary collateral arter... |
OMIM:208530 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o... |
ORPHA:2847 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Pulmonary artery stenosis, Tricuspid re... |
ORPHA:99125 |
Absence Of The Pulmonary Artery |
|
Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Abnor... |
ORPHA:980 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... |
OMIM:614262 |
Noonan Syndrome 12 |
|
Supravalvular aortic stenosis, Polyhydramnios, Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Polyhydramnios, Ventricular septal defect, Arthrogryposis multiple... |
OMIM:301056 |
Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... |
OMIM:605376 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Pulmonary arterial... |
ORPHA:163956 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Skeletal myopathy, Coronary artery atherosclerosis, Abnormality of the ... |
ORPHA:565612 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... |
OMIM:224700 |
Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Ventricular septal defect, Dilated cardiomyopathy, Edema, Skeletal muscle atrophy... |
OMIM:607598 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... |
ORPHA:49827 |
Polyvalvular Heart Disease Syndrome |
|
Mitral valve prolapse, Abnormal heart valve morphology, Arrhythmia, Aortic valve stenosis, Pulmon... |
ORPHA:228410 |
Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Abnormal cerebral vascular morphology, Pericardial effusion, Thick hair, Persiste... |
ORPHA:363705 |
Naxos Disease |
|
Sudden cardiac death, Ventricular arrhythmia, Palpitations, Sparse body hair, Paroxysmal ventricu... |
OMIM:601214 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, At... |
OMIM:617478 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ... |
ORPHA:3405 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Polyhydramnios, Curly hair, Ventricular septal defect, Left ventricular... |
OMIM:615355 |
Mitral Valve Prolapse 1 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:157700 |
Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:615996 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Atrial situs ambiguous, Anomalous pulmonary venous return, Situs i... |
ORPHA:244 |
Classic Multiminicore Myopathy |
|
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Congenital muscular dy... |
ORPHA:324604 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Abnormality of the hairline, Atrial sept... |
OMIM:614886 |
Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Accelerated atherosclerosis, Mitral stenosis, Mit... |
OMIM:264800 |
Renal Tubular Dysgenesis |
|
Polyhydramnios, Tetralogy of Fallot, Oligohydramnios |
ORPHA:3033 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... |
OMIM:613870 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Ventricular septal defect, Cardiac total anomalous pulm... |
OMIM:608978 |
Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... |
OMIM:616652 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Mitral valve prolapse, Skeletal muscle atrophy, Gastrointestinal hemorrhage, Arrhythmia, Precocio... |
ORPHA:230839 |
Optic Atrophy 8 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:616648 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Peau d'orange, Cerebral hemorrhage, Premature occlusive vascular stenosis, Mi... |
OMIM:177850 |
Giant Cell Arteritis |
|
Sudden cardiac death, Abdominal aortic aneurysm, Alopecia, Cerebral ischemia, Pericarditis, Epist... |
ORPHA:397 |
Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Cap Myopathy |
|
Aortic root aneurysm, Increased variability in muscle fiber diameter, Lower limb muscle weakness,... |
ORPHA:171881 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... |
ORPHA:392 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Grange Syndrome |
|
Carotid artery stenosis, Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertensi... |
OMIM:602531 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
ORPHA:2209 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618652 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmoni... |
OMIM:615279 |
Down Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... |
OMIM:190685 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Synophrys, Atrial septal defect, Tetralogy of Fallot, Transposition of... |
ORPHA:1913 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Stroke, Coronary artery stenosis, Hypertension |
OMIM:615812 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Stroke, Card... |
OMIM:249270 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Mitral valve prolapse, Mitral regurgitation, Hypertension |
OMIM:173900 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
Meacham Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... |
ORPHA:3097 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Synophrys, Atrial septal defect, Abnormal heart mo... |
ORPHA:401935 |
Adams-Oliver Syndrome 6 |
|
Portal hypertension, Ventricular septal defect, Truncus arteriosus, Tricuspid regurgitation |
OMIM:616589 |
Mass Syndrome |
|
Mitral valve prolapse, Aortic aneurysm, Ascending aortic dissection |
OMIM:604308 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, Sparse eyebrow, Curly hair, Ventricular septal defect, Mitral stenosis,... |
OMIM:616564 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Ascites, Atrial septal defect, Dehydration |
ORPHA:1667 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Mitral valve prolapse, Aortic regurgitation, Situs inversus totalis, Persis... |
OMIM:609008 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Contracture of the... |
OMIM:618223 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia |
OMIM:619699 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Lymphedema, Yellow nails, Predominantly lowe... |
OMIM:153400 |
Eisenmenger Syndrome |
|
Atrioventricular canal defect, Pedal edema, Aortopulmonary window, Ventricular arrhythmia, Suprav... |
ORPHA:97214 |
Kawasaki Disease |
|
Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Congestive heart failure, Abno... |
ORPHA:2331 |
46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Medial flaring of the eyebrow, Persistent fetal circulation, Low poster... |
OMIM:612863 |
Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Angina pectoris, Supravalvular aortic stenosis, Abnormal left ventricular f... |
ORPHA:391665 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect, Oligohydramnios |
ORPHA:139466 |
Congenital Alveolar Capillary Dysplasia |
|
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Pulmonary arter... |
ORPHA:210122 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Polyhydramnios, Nonimmune hydrops fetalis, Pulmonary artery dilata... |
OMIM:265380 |
Tyshchenko Syndrome |
|
Polyhydramnios, Ventricular septal defect, Supernumerary nipple, Atrial septal defect, Pulmonic s... |
OMIM:615102 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Noonan Syndrome 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Polyhydramnios, Curly hair, Sparse eyebr... |
OMIM:605275 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... |
ORPHA:261183 |
Von Willebrand Disease, Type 1 |
|
Mitral valve prolapse, Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, A... |
OMIM:193400 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... |
ORPHA:251071 |
Contractural Arachnodactyly, Congenital |
|
Knee flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Dist... |
OMIM:121050 |
Distal Monosomy 15Q |
|
Patent ductus arteriosus, Mitral atresia, Double outlet right ventricle with doubly committed ven... |
ORPHA:1596 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy |
OMIM:145350 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Synophrys, Paroxysmal supraventricular tachycardia, Arr... |
OMIM:617877 |
Alagille Syndrome 2 |
|
Hypertension, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pu... |
OMIM:610205 |
Methimazole Embryofetopathy |
|
Polyhydramnios, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Polysyndactyly With Cardiac Malformation |
|
Polyhydramnios, Stillbirth, Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Ventricular sep... |
ORPHA:1926 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Secundum atrial septal defect, Sparse hair, Cerebral cavernous malformation... |
OMIM:619910 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistula, Synophrys... |
OMIM:614294 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... |
OMIM:600001 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Patent ductus arteriosus, Ventricular septal defect, Coronary artery fistula, Atrial septal defec... |
OMIM:620024 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Patent ductus arteriosus, Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, ... |
ORPHA:555877 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Alopecia totalis, ... |
OMIM:618775 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot |
ORPHA:2184 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... |
ORPHA:2306 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Diaphragmatic eventratio... |
OMIM:601186 |
Frank-Ter Haar Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s... |
OMIM:249420 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula... |
OMIM:615474 |
Microphthalmia, Syndromic 2 |
|
Patent ductus arteriosus, Double outlet right ventricle, Laterally curved eyebrow, Flexion contra... |
OMIM:300166 |
Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:301043 |
Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Polyhydramnios, Dextrocardia, Persistent left superior vena cava, ... |
OMIM:314390 |
Viss Syndrome |
|
Aortic tortuosity, Polyhydramnios, Ascending tubular aorta aneurysm, Carotid artery dilatation, H... |
OMIM:619472 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Mitral stenosis, Long eye... |
ORPHA:2008 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypoplastic tricuspid ... |
ORPHA:2255 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Telangiectasia, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral ... |
OMIM:175050 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... |
ORPHA:1727 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Bradycardia, Third degree atrioventricular block, Conotruncal defect |
ORPHA:40366 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Intracranial... |
ORPHA:369929 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Ventricular septal defect, Supernumera... |
ORPHA:2519 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Polyhydramnios |
ORPHA:254534 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Flexion contracture, Medial flaring of the eyebrow, Ischemic stroke,... |
OMIM:619503 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... |
ORPHA:26793 |
Tangier Disease |
|
Carotid artery stenosis, Coronary artery stenosis, Accelerated atherosclerosis, Left ventricular ... |
ORPHA:31150 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Abnormal cardiac septum morphology, Synophrys, Macroglossia, Coarctation of a... |
ORPHA:96147 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
Noonan Syndrome 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Mitral... |
OMIM:609942 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Pulmonary arterial hypertension, Facial telang... |
OMIM:602782 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries, Macroglossia |
OMIM:616789 |
Diamond-Blackfan Anemia 7 |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Secundum atrial septal defec... |
OMIM:612562 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Sparse hair, Ventricular septal defect |
OMIM:615508 |
Carpenter Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Joint contracture of the hand, Camptodactyly... |
OMIM:201000 |
Phace Association |
|
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven... |
OMIM:606519 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Flexion contracture, Calf muscle hypertrophy, Congenital muscular dystrophy, Dilated cardiomyopat... |
OMIM:253800 |
Charge Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Polyhydramnios, Ventricular septal defec... |
OMIM:214800 |
Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Vascular dilatation, Ventricular septal defect |
OMIM:219730 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... |
ORPHA:137675 |
Congenital Tracheomalacia |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Ventricular septal defect, Single vent... |
ORPHA:95430 |
Cat Eye Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:115470 |
Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Alopecia, Ventricular septal defect, Bicuspid aortic valve, Hype... |
OMIM:100300 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Trichorrhexis nodosa, Ventricular septal defect, Brittle hair, Bicuspid... |
ORPHA:84064 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, Pulmonary arterial hypertension, Polyhydramnios, Aortopulmonary window, Dia... |
OMIM:620025 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta, Absent pulmonary arter... |
OMIM:600460 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Joint contracture of the hand, Camptodactyly, Hypoplastic nipples, Fin... |
OMIM:280000 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Tetralogy of Fallot, Transposition of the great arteries, Ventri... |
ORPHA:1780 |
Thoracoabdominal Syndrome |
|
Transposition of the great arteries, Congenital diaphragmatic hernia, Ectopia cordis, Patent duct... |
OMIM:313850 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Oligohydramnios |
ORPHA:411709 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Congestive heart failure, Aortic regurgitation, Mitral regurgitation, ... |
OMIM:123700 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
Williams-Beuren Syndrome |
|
Flexion contracture, Coronary artery stenosis, Ventricular septal defect, Medial flaring of the e... |
OMIM:194050 |
Congenital Tracheal Stenosis |
|
Patent ductus arteriosus, Anomalous origin of left pulmonary artery from ascending aorta, Polyhyd... |
ORPHA:141127 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Te... |
OMIM:618748 |
Kleefstra Syndrome 1 |
|
Synophrys, Conotruncal defect, Macroglossia |
OMIM:610253 |
Chime Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Transposition of the great arteries, Fine hai... |
ORPHA:3474 |
Coffin-Siris Syndrome |
|
Patent ductus arteriosus, Sparse scalp hair, Ventricular septal defect, Atrial septal defect, Pro... |
ORPHA:1465 |
Short Rib-Polydactyly Syndrome |
|
Polyhydramnios, Edema, Situs inversus totalis, Abnormal heart morphology, Increased nuchal transl... |
ORPHA:1505 |
Doors Syndrome |
|
Polyhydramnios, Double outlet right ventricle, Low anterior hairline |
ORPHA:79500 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Truncus arteriosus, Perimembranous ve... |
OMIM:612474 |
Cardiospondylocarpofacial Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic tricuspid valve... |
OMIM:157800 |
Neu-Laxova Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Joint ... |
OMIM:256520 |
Carpenter Syndrome 2 |
|
Knee flexion contracture, Patent ductus arteriosus, Sparse eyebrow, Diaphragmatic eventration, Ca... |
OMIM:614976 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Patent ductus arteriosus, Polyhydramnios, Ascending tubular aorta aneury... |
ORPHA:1662 |
Mosaic Trisomy 20 |
|
Dysplastic tricuspid valve, Ventricular septal defect, Abnormal mitral valve morphology |
ORPHA:1724 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Patent ductus arteriosus, Polyhydramnios, Diastasis recti, Ventricular septal defect, Transpositi... |
OMIM:312870 |
Visceral Steatosis, Congenital |
|
Neonatal death, Myocardial steatosis |
OMIM:228100 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Tetralogy of Fallot, Transposition of the great arteries, Ventricular s... |
OMIM:192350 |
Coffin-Siris Syndrome 6 |
|
Diaphragmatic eventration, Atrial septal defect |
OMIM:617808 |