| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy |
ORPHA:3283 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Gilles De La Tourette Syndrome |
|
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... |
OMIM:137580 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
| Indomethacin Embryofetopathy |
|
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... |
ORPHA:1909 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... |
OMIM:618052 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites |
ORPHA:295 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... |
OMIM:616201 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... |
OMIM:610476 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate... |
OMIM:616276 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Bradycardia, Flexio... |
OMIM:618815 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... |
ORPHA:1330 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec... |
ORPHA:45452 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... |
ORPHA:2299 |
| Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... |
ORPHA:185 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Pulmonary insufficiency, Hydrops fe... |
OMIM:619433 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
| Hydrops Fetalis |
|
Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,... |
ORPHA:1041 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... |
OMIM:618459 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... |
OMIM:603830 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... |
OMIM:601927 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg... |
OMIM:620236 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... |
OMIM:613854 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... |
OMIM:619924 |
| Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... |
OMIM:601005 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial s... |
ORPHA:980 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,... |
OMIM:181350 |
| Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im... |
OMIM:600884 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Singl... |
ORPHA:3405 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Telangiectasia, Coarctation of aorta, Atrial septal defect, Hydrops fe... |
ORPHA:101028 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
OMIM:618987 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Cardiomyopathy, Ascites, Portal hypertension, Decreased fetal movement, ... |
OMIM:232500 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... |
OMIM:619707 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure |
OMIM:192600 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten... |
OMIM:126320 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... |
ORPHA:2414 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Ventricular ... |
ORPHA:3426 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... |
OMIM:612124 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... |
OMIM:615745 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Ascites, Abnorm... |
ORPHA:90308 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
| Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:236750 |
| Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... |
OMIM:608751 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy |
OMIM:300376 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Truncus arteriosus, Portal hypertension, Ventricular septal defect |
OMIM:616589 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Nonimmune hydrops fetalis, Joint contracture, Flexion contracture, Abnormality of... |
OMIM:608540 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Bradycardia |
OMIM:619048 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
| Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... |
ORPHA:66529 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Truncus arter... |
OMIM:617478 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... |
ORPHA:2041 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death |
OMIM:619003 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... |
ORPHA:401935 |
| Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype... |
OMIM:619402 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... |
ORPHA:263297 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Increased endomysial connective ... |
OMIM:620265 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Transposition of the great arteries, Double outlet right ventricle, Ventricula... |
OMIM:231060 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... |
ORPHA:154 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Nuchal Bleb, Familial |
|
Hydrops fetalis, Fetal cystic hygroma, Stillbirth |
OMIM:257350 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... |
OMIM:618773 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... |
OMIM:613501 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde... |
OMIM:615770 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi... |
OMIM:614702 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... |
ORPHA:860 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Oligohydramnios, Polyhydramnios, Hydrops fetalis, Pericarditis |
ORPHA:163596 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
| Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal pericardial effusion, Fetal ascites, Hydrops fetalis, Polyhydramnios, Fetal pleural effusion |
OMIM:619462 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Myopathy, Pulmonary edema, Breech presentation, Increased myocardial g... |
OMIM:261740 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia |
ORPHA:320360 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Ascites, Cardiomegaly, Hydrops fetalis, Premature birth |
OMIM:269920 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
| Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Oligohydramnios, Situs inversus totalis, Trun... |
OMIM:615415 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Nemaline Myopathy 9 |
|
Nemaline bodies, Ventricular septal defect, Fetal akinesia sequence, Breech presentation, Polyhyd... |
OMIM:615731 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Decreased fetal movement, Ventr... |
OMIM:253300 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... |
ORPHA:99105 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... |
ORPHA:330001 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... |
OMIM:611705 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia |
OMIM:618235 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... |
ORPHA:542306 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... |
OMIM:607941 |
| Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... |
OMIM:612201 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... |
OMIM:618845 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... |
OMIM:612692 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Fetal pericardial effusion, Second degree atrioventricular block, Ascites, Oligohydramnios, Ventr... |
OMIM:617021 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... |
OMIM:613690 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| 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 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... |
OMIM:300696 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
| Congenital Gerbode Defect |
|
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... |
ORPHA:99095 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death |
OMIM:276822 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Oligohydramnios, Congenital diaphragmatic hernia, Decreased fetal movement... |
OMIM:609029 |
| Neuraminidase Deficiency |
|
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Ascites, Ca... |
OMIM:256550 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... |
ORPHA:1345 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... |
ORPHA:1880 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... |
OMIM:115197 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre... |
OMIM:212138 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... |
OMIM:619281 |
| Mulibrey Nanism |
|
Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hydrops fetalis, Myoca... |
OMIM:253250 |
| Long-Olsen-Distelmaier Syndrome |
|
Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive... |
OMIM:620609 |
| Cardiomyopathy, Familial Hypertrophic, 30, Atrial |
|
Atrial flutter, Reduced left ventricular ejection fraction, Left atrial enlargement, Atrial fibri... |
OMIM:620734 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... |
OMIM:212093 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... |
OMIM:249670 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... |
ORPHA:422 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Decreased fetal movement, Bradycardia |
ORPHA:2898 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
| Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
| Diffuse Neonatal Hemangiomatosis |
|
Ascites, Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Premature birth |
ORPHA:2123 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... |
OMIM:613426 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat... |
OMIM:609040 |
| Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... |
ORPHA:300751 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... |
OMIM:613873 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ... |
OMIM:179613 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Cong... |
OMIM:601186 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... |
OMIM:618969 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Neonatal death, Nonim... |
OMIM:620167 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Bradycard... |
ORPHA:40366 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
| Fetal Gaucher Disease |
|
Arthrogryposis multiplex congenita, Decreased fetal movement, Neonatal death, Fetal akinesia sequ... |
ORPHA:85212 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... |
ORPHA:1686 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... |
ORPHA:1055 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Myopathy, Rhabdomyolysis, Arrhythmia, Hydrops f... |
OMIM:609015 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Persistent ... |
OMIM:618775 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure |
OMIM:616198 |
| Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Arteriovenous malformation, Chylothorax, Congestive heart failure, Abnormal heart morp... |
ORPHA:137667 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Ascites, Abnormal card... |
ORPHA:367 |
| Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Preductal coarctation of the aorta, Stillbirth, Polyhydramnios, Hydrops fetalis, P... |
OMIM:215045 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Oligohydramnios, Congenital diaphragmatic hernia, Decreased fetal movement... |
ORPHA:96170 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Fetal distress, Ascites, Pleural effusion, Bradycardia, Cerebral h... |
OMIM:617397 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, EMG: myo... |
OMIM:609286 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... |
OMIM:115000 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617516 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
| Lymphatic Malformation 13 |
|
Fetal pericardial effusion, Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Neon... |
OMIM:620244 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Grange Syndrome |
|
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... |
ORPHA:79094 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ... |
OMIM:616897 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Stroke-like episode, Ragged-red muscle fibers, Myopathy, Arrhythmia, Le... |
OMIM:540000 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se... |
OMIM:153400 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... |
OMIM:600001 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Peripheral edema, Mitral regurgitation, Pul... |
ORPHA:75249 |
| Romano-Ward Syndrome |
|
Abnormality of prenatal development or birth, Abnormal T-wave, Torsade de pointes, Sinus bradycar... |
ORPHA:101016 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
| Aminoacylase 1 Deficiency |
|
Breech presentation, Bradycardia |
OMIM:609924 |
| Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death |
OMIM:618839 |
| Congenital Enterovirus Infection |
|
Hypotension, Fetal ascites, Cardiomyopathy, Fetal distress, Pleural effusion, Polyhydramnios, Dec... |
ORPHA:292 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
| Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
| Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis, Neonatal death |
OMIM:618835 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... |
ORPHA:1457 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Stroke, Atria... |
ORPHA:49827 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular se... |
ORPHA:2008 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... |
ORPHA:57777 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
| Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... |
OMIM:620203 |
| Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... |
ORPHA:99103 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... |
OMIM:619657 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... |
ORPHA:3304 |
| Glycogen Storage Disease Xv |
|
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... |
OMIM:613507 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... |
OMIM:619371 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... |
ORPHA:275766 |
| Morm Syndrome |
|
Aggressive behavior, Hyperactivity, Truncal obesity |
ORPHA:75858 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresi... |
ORPHA:99050 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Idiopathic Congenital Hypothyroidism |
|
Facial edema, Macroglossia, Bradycardia |
ORPHA:95717 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Oligohydramnios, Ventricular septal defect, Cardi... |
OMIM:617022 |
| Propionic Acidemia |
|
Arrhythmia, Cardiomyopathy |
ORPHA:35 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Premature birth, Nonimmune hydrops fetalis |
OMIM:618838 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... |
OMIM:620067 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... |
OMIM:619313 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... |
ORPHA:1354 |
| Achondrogenesis, Type Ib |
|
Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:600972 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Lymphatic Malformation 12 |
|
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Neonatal death, Nonimmu... |
OMIM:620014 |
| Sialidosis Type 2 |
|
Skeletal muscle atrophy, Ascites, Flexion contracture, Hydrops fetalis, Pedal edema |
ORPHA:87876 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Naxos Disease |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... |
ORPHA:34217 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:613243 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Decreased fetal movement, Ventricular septal def... |
OMIM:607598 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Supravalvular aortic stenosis, Polyhydramnios, Ventricular septal defect |
OMIM:618624 |
| Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... |
ORPHA:2326 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Arrhythmia |
OMIM:618453 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616910 |
| Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Abnormal hear... |
OMIM:230500 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Pulmonary edema, Bradycardia, Tachycardia, Cardiac arrest, Premature birth |
ORPHA:70587 |
| Necrotizing Enterocolitis |
|
Hypotension, Shock, Ascites, Abnormal heart morphology, Bradycardia, Edema, Premature birth |
ORPHA:391673 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... |
ORPHA:477817 |
| Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Myopathy, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... |
ORPHA:99104 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric... |
OMIM:115195 |
| Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Fetal skin edema, Decreased fetal movement, Atrial septal defect, Pericardial effusion, ... |
OMIM:608776 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... |
OMIM:108800 |
| Hec Syndrome |
|
Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia, Polyhydramnios, Premature birth |
ORPHA:2119 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... |
OMIM:270100 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... |
ORPHA:99094 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Decreased fetal movement, Ventricular septal defect |
OMIM:619717 |
| Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level |
ORPHA:100024 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... |
OMIM:614262 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... |
ORPHA:70 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
| Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, T lymph... |
ORPHA:277 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... |
OMIM:310300 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve pro... |
ORPHA:228410 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca... |
OMIM:613870 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... |
OMIM:306955 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
| Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Oligohydramnios, Polyhydramnios, Premature birth |
ORPHA:3033 |
| Desminopathy |
|
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Weaknes... |
ORPHA:98909 |
| Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P... |
OMIM:616843 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:2204 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Decreased fetal movement, Ventricular s... |
OMIM:616816 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... |
OMIM:265380 |
| Trisomy 1Q |
|
Camptodactyly of finger, Increased nuchal translucency, Congenital diaphragmatic hernia, Ventricu... |
ORPHA:261344 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620135 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:371428 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
| Alpha-Thalassemia |
|
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis |
ORPHA:846 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
| Criss-Cross Heart |
|
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... |
ORPHA:1461 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Nonimmune hydrops fetalis |
ORPHA:477774 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... |
OMIM:613980 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Arrhythmia, Atrial sep... |
OMIM:249270 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Gm1 Gangliosidosis |
|
Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Cherry red spot of the macul... |
ORPHA:354 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... |
OMIM:605376 |
| Hemochromatosis, Type 2A |
|
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure |
OMIM:602390 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
| Familial Progressive Cardiac Conduction Defect |
|
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block |
ORPHA:871 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| Ebstein Anomaly |
|
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... |
OMIM:224700 |
| Trisomy 13 |
|
Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Ventricular septal defect |
ORPHA:3378 |
| Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Symmetrical Thalamic Calcifications |
|
Polyhydramnios, Arrhythmia |
ORPHA:1314 |
| Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:1263 |
| Mgat2-Cdg |
|
Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Hydrops fetalis, Patent ductus ... |
ORPHA:79329 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
OMIM:618986 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Breech presentation, Bradycardia, Retinal hemorrhage, Tachycardia, Fle... |
OMIM:614653 |
| Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic... |
OMIM:153100 |
| Glycine Encephalopathy 1 |
|
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity |
OMIM:605899 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Dystonia 23 |
|
Arrhythmia, Torticollis |
OMIM:614860 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Flexion contracture, Camptodactyly, Bradycardia |
OMIM:610015 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
| Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... |
OMIM:208530 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Brugada Syndrome 1 |
|
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... |
OMIM:601144 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors |
OMIM:301107 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Aor... |
ORPHA:261330 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... |
OMIM:616501 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Stroke, Arrhythmia, ... |
ORPHA:230839 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te... |
ORPHA:69735 |
| Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... |
ORPHA:2847 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... |
OMIM:614069 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Atrioventricular block, ... |
ORPHA:1329 |
| Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Double outlet right ventricle, Polyhydramnios, Pulmonary artery atresi... |
OMIM:301056 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1388 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Neonatal death, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:615524 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... |
ORPHA:244 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia |
OMIM:614407 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Decreased fetal movement, Arrhythmia... |
ORPHA:157973 |
| Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... |
ORPHA:392 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... |
OMIM:615067 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... |
OMIM:612561 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Oligohydramnios, ... |
ORPHA:1194 |
| Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:932 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... |
ORPHA:363705 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelastosis, Oligohydram... |
ORPHA:99776 |
| Muscular Dystrophy, Duchenne Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failur... |
OMIM:310200 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... |
OMIM:616749 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Stroke-like episode, Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia |
OMIM:619272 |
| Illum Syndrome |
|
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia |
OMIM:208155 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy, Hydrops fetalis, Cardiomyopathy |
ORPHA:88618 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L... |
OMIM:615355 |
| Achondrogenesis Type 1B |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93298 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... |
OMIM:611493 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Decreased fetal mo... |
OMIM:614886 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Limb hypertonia, Joint contracture, Bradycardia |
OMIM:614498 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... |
ORPHA:97214 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
| Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93299 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... |
ORPHA:3093 |
| Free Sialic Acid Storage Disease |
|
Ascites, Hydrops fetalis, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:834 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Elbow flexion contracture, Arrhythmia, Joint contracture, Generalized amyotrophy |
OMIM:616516 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... |
OMIM:618652 |
| Meacham Syndrome |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar... |
OMIM:608978 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... |
OMIM:614916 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Increased placental thickness, Abnormal heart morphology, Single umbilical artery, Flexion contra... |
ORPHA:1865 |
| Dk1-Cdg |
|
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac... |
ORPHA:91131 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven... |
ORPHA:508498 |
| Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Congenital diaphragmatic hernia, Decreased fetal movement |
OMIM:613630 |
| Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... |
OMIM:265300 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ... |
OMIM:615084 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... |
OMIM:618394 |
| Giant Cell Arteritis |
|
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... |
ORPHA:397 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... |
OMIM:612946 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... |
OMIM:616652 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
| Noonan Syndrome 2 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran... |
OMIM:605275 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... |
OMIM:300887 |
| Familial Thyroid Dyshormonogenesis |
|
Facial edema, Macroglossia, Bradycardia |
ORPHA:95716 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
| Interatrial Communication |
|
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... |
ORPHA:1478 |
| Hemochromatosis, Type 4 |
|
Arrhythmia, Cardiomyopathy |
OMIM:606069 |
| Alg8-Cdg |
|
Ascites, Oligohydramnios, Camptodactyly, Macroglossia, Hydrops fetalis, Edema, Premature birth |
ORPHA:79325 |
| Fabry Disease |
|
Congestive heart failure, Lymphedema, Transient ischemic attack, Angina pectoris, Arrhythmia, Lef... |
OMIM:301500 |
| Down Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Abnormal fetal nasal bone visualization, Comp... |
OMIM:190685 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... |
OMIM:615996 |
| Lujo Hemorrhagic Fever |
|
Facial edema, Periorbital edema, Hypotension, Generalized edema, Shock, Cerebral edema, Bradycard... |
ORPHA:319213 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity... |
OMIM:614437 |
| Polysyndactyly With Cardiac Malformation |
|
Polyhydramnios, Stillbirth, Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death, Skeletal muscle atrophy |
ORPHA:156 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... |
OMIM:613670 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
| American Trypanosomiasis |
|
Periorbital edema, Cardiomyopathy, Congestive heart failure, Arrhythmia, Myocarditis, Edema |
ORPHA:3386 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... |
ORPHA:2209 |
| Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... |
ORPHA:206569 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Ventricular sep... |
ORPHA:1166 |
| Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Cherry red spot of the macula, Hydrops fetalis, Macroglossia, Abnormal placenta m... |
ORPHA:79255 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Myocarditis, Pedal edema, Pericarditis |
ORPHA:188 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Pulmonary arterial hypertension, Abn... |
ORPHA:77261 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:1913 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Periorbital edema, Joint contracture of the hand, Intestinal lymphangiectasia, Lymphedema, Pleura... |
OMIM:235510 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Telangiectasia, Cardiomegaly... |
OMIM:235200 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Arrhy... |
ORPHA:352447 |
| D-Glyceric Aciduria |
|
Patent ductus arteriosus, Bradycardia |
OMIM:220120 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia |
OMIM:266500 |
| Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Abnormal heart valve morphology, Diastasis recti, Macroglossia, Flexion contractu... |
OMIM:253220 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom... |
ORPHA:98855 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia, Skeletal muscle atrophy, Hand muscle atrophy |
ORPHA:99944 |
| Li-Campeau Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:619189 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Oligohydramnios, Mitral stenosis, Pate... |
ORPHA:163956 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Angioedema, Cerebral ischemia, Rhabdomyolysis, Stroke,... |
ORPHA:449285 |
| Double Outlet Left Ventricle |
|
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... |
ORPHA:3427 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| Gaucher Disease, Perinatal Lethal |
|
Desquamation of skin soon after birth, Ascites, Decreased fetal movement, Nonimmune hydrops fetal... |
OMIM:608013 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... |
OMIM:102700 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Pal... |
ORPHA:565612 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Alg9-Cdg |
|
Hypoplasia of the musculature, Thickened nuchal skin fold, Tricuspid regurgitation, Abnormal hear... |
ORPHA:79328 |
| Serkal Syndrome |
|
Oligohydramnios, Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
| Fibrochondrogenesis 1 |
|
Joint contracture of the hand, Patent foramen ovale, Stillbirth, Camptodactyly, Hydrops fetalis |
OMIM:228520 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Ventricu... |
OMIM:618164 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:210122 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... |
OMIM:615607 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... |
ORPHA:732 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Atri... |
OMIM:615668 |
| Activated Pi3K-Delta Syndrome |
|
Decreased circulating antibody level, Increased circulating IgM level, Splenomegaly, B lymphocyto... |
ORPHA:397596 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
| Hemochromatosis, Neonatal |
|
Oligohydramnios, Nonimmune hydrops fetalis |
OMIM:231100 |
| Pulmonary Arteriovenous Malformation |
|
Epistaxis, Bacterial endocarditis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations,... |
ORPHA:2038 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Vascular dilatation, Bradycardia |
ORPHA:221098 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:608184 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Coronary art... |
ORPHA:51608 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... |
ORPHA:26793 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... |
ORPHA:369929 |
| 22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Gastrointestinal hemorrhage, Abnormal aortic arch morphology, Tetralogy of F... |
ORPHA:567 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Wolcott-Rallison Syndrome |
|
Ascites, Double outlet right ventricle, Atrial septal defect, Dehydration |
ORPHA:1667 |
| Rheumatic Fever |
|
Epistaxis, Abnormal heart valve morphology, Abnormal mitral valve morphology, Abnormal aortic val... |
ORPHA:3099 |
| Mycophenolate Mofetil Embryopathy |
|
Coarctation of aorta, Hydrops fetalis, Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:268249 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... |
ORPHA:624 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Bradycardia |
ORPHA:226313 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Single umbilical artery, Ventricular septal defect |
ORPHA:2772 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Large placenta, Diastasis recti, Ventricular septal defect, Polyhydram... |
ORPHA:254534 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... |
OMIM:617877 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... |
OMIM:615474 |
| Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
| Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio... |
ORPHA:398124 |
| 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 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Premature birth, Single umbilical artery, Ventricular septal defect |
ORPHA:2256 |
| Osteogenesis Imperfecta, Type Ii |
|
Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:166210 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval |
ORPHA:90647 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec... |
OMIM:601495 |
| Methimazole Embryofetopathy |
|
Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:1923 |
| Ciliary Dyskinesia, Primary, 53 |
|
Ductus venosus agenesis, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiom... |
OMIM:620642 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, Atrial septal defect, Polyhydramnios, Pulmonic stenosis, Premature birth |
OMIM:615102 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Tricuspid regurgitation, Retinal arterial tortuosity, Patent foramen ovale, Cardiomegaly, Vitreou... |
OMIM:620371 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Cardiomyopathy, Myopathy, Rhabdomyolysis, Arrhythmia |
ORPHA:228305 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity |
OMIM:301013 |
| Crimean-Congo Hemorrhagic Fever |
|
Retinal hemorrhage, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Ascites, Hemot... |
ORPHA:99827 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnormal tendon morphology, Cong... |
ORPHA:85446 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... |
OMIM:619542 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Strok... |
ORPHA:79282 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Absence of stomach bubble on fetal sonography, Neonatal death, Per... |
OMIM:314390 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Stroke-like episode, Nonimmune hydrops fetalis, Pericardial effusion, Flexion con... |
OMIM:212065 |
| Al Amyloidosis |
|
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Macroglossia, Xerostomia, Pos... |
ORPHA:85443 |
| Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth |
OMIM:200610 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... |
ORPHA:3097 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Abnormal heart morphology, Atrioventricular canal defect, Oligohydra... |
ORPHA:508488 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Membranous subvalvular aortic stenosis, Arrhythmia, Subvalvular aortic stenosis |
ORPHA:3191 |
| Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Polyhydramnios, Pulmonic stenosis |
OMIM:611553 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia, Skeletal muscle atrophy |
ORPHA:96 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... |
OMIM:308230 |
| Mucopolysaccharidosis Type 7 |
|
Ascites, Hydrops fetalis, Arteriovenous malformation, Lymphedema |
ORPHA:584 |
| Diabetic Embryopathy |
|
Tetralogy of Fallot, Abnormal aortic morphology, Ventricular septal defect, Aplasia/Hypoplasia of... |
ORPHA:1926 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Hydrops fetalis, Atrial septal defect, Ventricular septal defect |
OMIM:263520 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hydrops fetalis |
OMIM:613673 |
| Infantile Refsum Disease |
|
Arrhythmia, Facial palsy, Cardiomyopathy |
ORPHA:772 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... |
OMIM:619167 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... |
OMIM:612474 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Single umbilical artery, Ventricular septal defect |
OMIM:617635 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation |
OMIM:615516 |
| Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis, Arrhythmia, Aortic valve calcification |
OMIM:616298 |
| Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hypoplasia of the musculature, Shoulder flexion contracture, Ascites, Elbow flexion contracture, ... |
OMIM:620369 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Fetal pericardial effusion, Ventricular septal defect, Vascular dilatation, Polyhydramnios, Prema... |
OMIM:219730 |
| Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... |
ORPHA:391665 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Cherry red spot of the macula |
OMIM:256540 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu... |
ORPHA:368 |
| Noonan Syndrome 9 |
|
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
| Farber Disease |
|
Skeletal muscle atrophy, Cherry red spot of the macula, Ascites, Joint swelling, CNS foam cells, ... |
ORPHA:333 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Limb hypertonia, Congenital foot contractures, Bradycardia |
ORPHA:565624 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... |
OMIM:603387 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal heart morphology, Oligohydramnios, Increased nuchal translucency, Patent foramen ovale, ... |
OMIM:618494 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
| Short Qt Syndrome 1 |
|
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... |
OMIM:609620 |
| Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
| Congenital Syphilis |
|
Myocarditis, Large placenta, Hydrops fetalis, Premature birth |
ORPHA:499009 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Camp... |
OMIM:301039 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Lymphedema, Telangiectasia of extensor s... |
OMIM:137940 |
| Keutel Syndrome |
|
Pulmonary artery stenosis, Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:85202 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ... |
OMIM:618870 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Oligohydramnios, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Cerebral e... |
OMIM:617713 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Arrhythmia, Distal arthrogryposis |
ORPHA:42 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet right ventricl... |
OMIM:618223 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Edema, Bradycardia |
ORPHA:90673 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Atrial septal defect, Truncus arteriosus |
ORPHA:2538 |
| Distal Deletion 15Q |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... |
ORPHA:1596 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu... |
OMIM:610205 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Palmar telangiectasia, Nonimmune hydrops fe... |
OMIM:607823 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect... |
OMIM:608149 |
| Sepsis In Premature Infants |
|
Hypotension, Caesarian section, Bradycardia, Tachycardia, Edema, Premature birth |
ORPHA:90051 |
| Kawasaki Disease |
|
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... |
ORPHA:2331 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Atrial septal defect |
OMIM:616546 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:1727 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Premature birth, Hip contracture, Ventricular septal defect |
OMIM:616651 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio... |
OMIM:616564 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Rhabdomyolysis, Arrhythmia, Bradycardia, Ta... |
ORPHA:94093 |
| Femoral-Facial Syndrome |
|
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Pat... |
OMIM:134780 |
| Prune Belly Syndrome |
|
Tetralogy of Fallot, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Aplasia of... |
ORPHA:2970 |
| Neuroendocrine Tumor Of The Colon |
|
Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricular failure, Tricuspid regur... |
ORPHA:100080 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
| Tatton-Brown-Rahman Syndrome |
|
Fetal distress, Tricuspid regurgitation, Mitral regurgitation, Ventricular septal defect, Atrial ... |
OMIM:615879 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Coarctation of aorta, Ventricular septal defect |
OMIM:620210 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... |
OMIM:302060 |
| Bohring-Opitz Syndrome |
|
Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Facial hyp... |
ORPHA:97297 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Fetal distress, Elbow flexion contracture, Hip contracture, Knee flexion contracture, Bilateral f... |
OMIM:300868 |
| Transaldolase Deficiency |
|
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Coarctation of ... |
OMIM:606003 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventricular canal ... |
ORPHA:251071 |
| Holt-Oram Syndrome |
|
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... |
OMIM:142900 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect |
OMIM:618142 |
| Hennekam Syndrome |
|
Arteriovenous malformation, Chylothorax, Lymphedema, Ascites, Camptodactyly of finger, Pulmonary ... |
ORPHA:2136 |
| Ogden Syndrome |
|
Cardiogenic shock, Ventricular septal defect, Pulmonary artery stenosis, Arrhythmia, Torticollis |
ORPHA:276432 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... |
OMIM:619910 |
| Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:85166 |
| Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea... |
ORPHA:97292 |
| Contractural Arachnodactyly, Congenital |
|
Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Mitral regurgitation, Mi... |
OMIM:121050 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... |
ORPHA:57 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... |
OMIM:618280 |
| Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Thrombotic Thrombocytopenic Purpura |
|
Stroke, Arrhythmia, Myocardial infarction |
ORPHA:54057 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis |
OMIM:618265 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
| Cranioectodermal Dysplasia 2 |
|
Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect, Polyhydramnios, Hydrops... |
OMIM:613610 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Increased nuchal translucency, Ventri... |
ORPHA:3472 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Secundum atrial septal defect, Fetal distress, Tetralogy of Fallot, Ve... |
OMIM:612562 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage |
ORPHA:335 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut... |
OMIM:614700 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Mi... |
ORPHA:746 |
| Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona... |
ORPHA:500 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... |
ORPHA:70591 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:2184 |
| Achondrogenesis, Type Ia |
|
Absence of stomach bubble on fetal sonography, Increased nuchal translucency, Stillbirth, Polyhyd... |
OMIM:200600 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, T... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, T... |
ORPHA:100082 |
| Liddle Syndrome |
|
Arrhythmia, Cerebral ischemia, Hypertension |
ORPHA:526 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Arrhythmia, Camptodactyly of finger |
ORPHA:2928 |
| Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... |
OMIM:614921 |
| Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
| Coffin-Siris Syndrome 7 |
|
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Single u... |
OMIM:618027 |
| Kearns-Sayre Syndrome |
|
Arrhythmia, Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers |
OMIM:530000 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Ventricular septal defect |
OMIM:616037 |
| 3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:7 |
| Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Ventricular septal... |
ORPHA:1425 |
| Pearson Syndrome |
|
Cardiomyopathy, Abnormal heart morphology, Cardiac conduction abnormality, Corneal stromal edema,... |
ORPHA:699 |
| Chromosome 2Q37 Deletion Syndrome |
|
Arrhythmia, Subvalvular aortic stenosis |
OMIM:600430 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... |
OMIM:301043 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Echogenic intracardiac focus, Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal... |
OMIM:617751 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Isolated Atp Synthase Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy |
ORPHA:254913 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:500159 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Premature birth, Cardiomegaly, Small vessel vasculitis, Periorbital edema, Hydrops fetalis, Ascen... |
OMIM:620376 |
| Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... |
OMIM:249420 |
| Trisomy X |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3375 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
| Schneckenbecken Dysplasia |
|
Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth |
OMIM:269250 |
| Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe... |
ORPHA:93672 |
| Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Dehydration, Shock, Capillary leak, Internal hemorrhage,... |
ORPHA:99826 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal... |
ORPHA:3071 |
| Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Limb hypertonia, Ventricular septal defect |
OMIM:619909 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect |
OMIM:617450 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Edema, Ventricular septal defect |
OMIM:618348 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Sin... |
ORPHA:329224 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:290 |
| Short Qt Syndrome 7 |
|
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death |
OMIM:620231 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia |
ORPHA:159 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Lower limb hypertonia, Ventricular septal defect |
OMIM:619995 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Joint contracture of the hand, Tetralogy of Fallot, Ventric... |
OMIM:280000 |
| Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Necrotizing myopathy, Supraventricular tachycardia, Hi... |
ORPHA:423 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Leber Optic Atrophy |
|
Central retinal vessel vascular tortuosity, Arrhythmia, Myopathy |
OMIM:535000 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Joint swell... |
ORPHA:465508 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Congenital diaphragmatic hernia, Knee flexion contracture, Decreased fetal movement, Multiple joi... |
OMIM:265000 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hydrops fetalis |
OMIM:614091 |
| Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu... |
OMIM:617201 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
| Joubert Syndrome 18 |
|
Camptodactyly, Ventricular septal defect |
OMIM:614815 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ... |
ORPHA:254346 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial septal defect, Ventricular sept... |
ORPHA:2519 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Patent ductus arteriosus, Bradycardia |
OMIM:617248 |
| Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Decreased fetal movement, Ventricul... |
OMIM:616777 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... |
ORPHA:2255 |
| Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
| Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect |
ORPHA:2345 |
| Fetal Akinesia Deformation Sequence 1 |
|
Generalized amyotrophy, Congenital contracture, Decreased muscle mass, Camptodactyly of finger, S... |
OMIM:208150 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Macroglossia, Bradycardia |
ORPHA:90674 |
| Greenberg Dysplasia |
|
Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neonatal death, Stillbi... |
OMIM:215140 |
| Aase-Smith Syndrome I |
|
Flexion contracture, Ventricular septal defect |
OMIM:147800 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Congenital contracture, Sinus bradycardia, Joint contracture, Flexion contracture, Arthrogryposis... |
OMIM:618397 |
| Congenital Tracheomalacia |
|
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... |
ORPHA:95430 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... |
OMIM:300755 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogry... |
OMIM:208085 |
| Gaucher Disease |
|
Aortic valve calcification, Cherry red spot of the macula, Abnormal pericardium morphology, Abnor... |
ORPHA:355 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... |
OMIM:619472 |
| Digeorge Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun... |
OMIM:188400 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Arrhythmia |
OMIM:255120 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest |
OMIM:277400 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
| Ileal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Edema, Palpitation... |
ORPHA:100078 |
| Transketolase Deficiency |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... |
ORPHA:488618 |
| Agel Amyloidosis |
|
Xerostomia, Cardiomyopathy, Blepharochalasis, Orthostatic hypotension due to autonomic dysfunctio... |
ORPHA:85448 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Oligohydramnios, Neonatal death, Arrhythmia, Hypertension, Premature... |
OMIM:614052 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Joint contracture of the hand, Ventricular septal defect |
OMIM:113000 |
| Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Rhabdomyolysis |
OMIM:188580 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia |
OMIM:616949 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Rha... |
ORPHA:26791 |
| Microcephaly-Capillary Malformation Syndrome |
|
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:614261 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip contracture, Ventricular septal defect, Hypoplastic aortic arch, Hypoplastic left heart, Mitr... |
OMIM:619503 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Persistent patent ductus venosus, Knee flexion contracture, Patent ductus arteriosus after premat... |
OMIM:620454 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
| Typhoid |
|
Gastrointestinal hemorrhage, Cardiac arrest, Arrhythmia, Epistaxis |
ORPHA:99745 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect |
OMIM:612938 |
| Acquired Methemoglobinemia |
|
Tachycardia, Arrhythmia, Palpitations, Syncope |
ORPHA:464453 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Coarctation... |
ORPHA:96147 |
| Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Dehydration, H... |
ORPHA:31824 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Transposition of the great a... |
OMIM:253800 |
| Microscopic Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar... |
ORPHA:727 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Contracture of the proxi... |
OMIM:300166 |
| Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2328 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Abnormal heart morphology, Patent foramen ovale, Ventricular se... |
ORPHA:369891 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Pul... |
OMIM:610733 |
| Diamond-Blackfan Anemia |
|
Abnormality of the thenar eminence, Abnormal heart morphology, Radial artery aplasia, Ventricular... |
ORPHA:124 |
| Scorpion Envenomation |
|
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... |
ORPHA:466677 |
| Ververi-Brady Syndrome |
|
Transposition of the great arteries, Single umbilical artery |
OMIM:617982 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:2143 |
| Burn-Mckeown Syndrome |
|
Hypomimic face, Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial sept... |
OMIM:612582 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Ascites, Pleural effusion, Nonimmune hydrops fetalis |
OMIM:617049 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left... |
ORPHA:254892 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson... |
OMIM:614947 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula... |
OMIM:620025 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Arrhythmia, Mildly reduced left ventricular ejection fraction |
OMIM:618098 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Camptodactyly of finger, Ventricular septal defect, Limb hypertonia, Pol... |
OMIM:616920 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Arrhythmia |
OMIM:618531 |
| Phaver Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresi... |
ORPHA:2876 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy... |
ORPHA:542323 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Knee flexion contracture, Coronary artery atherosclerosis, Ventricular s... |
ORPHA:435638 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
| Fabry Disease |
|
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... |
ORPHA:324 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Low APGAR score, Ventricular septal defect |
ORPHA:79243 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| Renal Agenesis |
|
Oligohydramnios, Hypertension, Ventricular septal defect |
ORPHA:411709 |
| Fraser Syndrome 3 |
|
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, St... |
OMIM:617667 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect |
OMIM:619123 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Dehydration, Edema, Bradycardia |
ORPHA:79404 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Arrhythmia, Patent ductus arteriosus, Varicose veins |
ORPHA:33001 |
| Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular... |
OMIM:115470 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... |
OMIM:309801 |
| Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Coarctation of aorta, Hydrops fetalis, Premature birth |
ORPHA:50945 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventr... |
ORPHA:258 |
| Braddock-Carey Syndrome 1 |
|
Camptodactyly, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Heart murmur, Abnormal vena cava morphology, Ventricular septal defect |
ORPHA:166035 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Oligohydramnios, Congenital diaphragmatic hernia, Ventr... |
OMIM:611812 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect |
ORPHA:1908 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Thickened nuchal skin fold, Ventricular septal de... |
OMIM:220500 |
| Phace Association |
|
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... |
OMIM:606519 |
| Von Hippel-Lindau Disease |
|
Macular edema, Upper limb muscle weakness, Cardiomyopathy, Palpitations, Stroke, Distal lower lim... |
ORPHA:892 |
| Legionnaires Disease |
|
Hypotension, Arrhythmia, Myocarditis, Endocarditis, Pericarditis |
ORPHA:549 |
| Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618950 |
| 19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia |
ORPHA:29822 |
| Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
| Carpenter Syndrome 1 |
|
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Transposition of t... |
OMIM:201000 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... |
OMIM:613179 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
ORPHA:221139 |
| Pelger-Huet Anomaly |
|
Lower limb hypertonia, Foot dorsiflexor weakness, Ventricular septal defect |
OMIM:169400 |
| Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1488 |
| Noonan Syndrome 3 |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... |
OMIM:609942 |
| X Small Rings |
|
Aortic root aneurysm, Oligohydramnios, Mitral stenosis, Ventricular septal defect, Bicuspid aorti... |
ORPHA:96201 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Atrial septal defect, Peau d'orange, Ventricular septal defect |
OMIM:614576 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Lymphedema, Pancreatic lymphangiectasis, Ascites, Ventricular septal ... |
OMIM:235255 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Spondylo-Ocular Syndrome |
|
Facial hypotonia, Ventricular septal defect |
ORPHA:85194 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
| Teebi Hypertelorism Syndrome 1 |
|
Single umbilical artery, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Arrhythmia |
ORPHA:168593 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Kleefstra Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Coarctation of... |
ORPHA:261494 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Arrhythmia, Atrial septal defect, Patent foramen ovale |
OMIM:619184 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Elbow flexion contracture, Facial telangiectasia, Joint contracture of t... |
OMIM:602782 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten... |
OMIM:617159 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture, Ske... |
ORPHA:682 |
| Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Atrial septal defect, Heart ... |
OMIM:158170 |
| Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Myopathy |
ORPHA:2238 |
| Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Pentalogy Of Cantrell |
|
Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Ventricula... |
ORPHA:1335 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Patent foramen ovale, Ventricular septal defect |
OMIM:614961 |
| Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Arrhythmia |
OMIM:620208 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular septal defect |
OMIM:613404 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Polyhydramnios, Hematochezia, Congenital pulmonary airway malformation, Ventricular septal defect |
OMIM:243150 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Mitral regu... |
OMIM:123700 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi... |
OMIM:617506 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Elbow flexion contracture, Oligohydramnios, Increased muscle lipid conten... |
OMIM:608836 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia |
OMIM:261990 |
| Mosaic Trisomy 16 |
|
Abnormal heart morphology, Large placenta, Ventricular septal defect, Single coronary artery orig... |
ORPHA:1708 |
| Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept... |
OMIM:601808 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect |
OMIM:614424 |
| Lyme Disease |
|
Arrhythmia, Joint swelling, Atrioventricular block |
ORPHA:91546 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flexion contracture, Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
| Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Fetal ascites, 5-minute APGAR score of 3, Anomalous origin of left pulmon... |
ORPHA:141127 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia, Ventri... |
ORPHA:1780 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Pulmonary artery atresia, Paten... |
OMIM:620113 |
| Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
| Fanconi Anemia, Complementation Group B |
|
Coarctation of aorta, Single umbilical artery, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300514 |
| Heart-Hand Syndrome Type 2 |
|
Arrhythmia |
ORPHA:1350 |
| ERI1-related disease |
|
Tricuspid regurgitation, Pulmonary arterial hypertension, Abnormal heart morphology, Ventricular ... |
OMIM:608739 |
| Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect |
OMIM:620511 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia, Arteriovenous malformation |
ORPHA:60040 |
| Rere-Related Neurodevelopmental Syndrome |
|
Abnormal heart morphology, Ventricular septal defect |
ORPHA:494344 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Ventricular bigeminy, Limb muscle weakness, Arrhythmia, Left bundle branch block, Facial palsy |
OMIM:610131 |
| Ritscher-Schinzel Syndrome 2 |
|
Pulmonary artery hypoplasia, Camptodactyly of finger, Ventricular septal defect, Atrial septal de... |
OMIM:300963 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:100300 |
| Pagod Syndrome |
|
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormal aortic morp... |
ORPHA:991 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Contractures of the large joints, Ventricular septal defect |
ORPHA:3078 |
| Charge Syndrome |
|
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... |
OMIM:214800 |
| Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Telangiectasia of the skin, Atri... |
ORPHA:52 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hydrops fetalis |
OMIM:224120 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Limb joint contracture, Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Patent ductus arteriosus, Atrial septal defect, Scapular winging, Ventricular septal defect |
OMIM:617061 |
| Autoimmune Lymphoproliferative Syndrome |
|
Vasculitis, Hydrops fetalis |
ORPHA:3261 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Congenital muscular t... |
ORPHA:457279 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Increased nuchal translucency, Congenital dia... |
ORPHA:1692 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... |
OMIM:614114 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Myositis, Arrhythmia, Type 2... |
ORPHA:99845 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
| Myopathy With Extrapyramidal Signs |
|
Calf muscle hypertrophy, Ventricular septal defect |
OMIM:615673 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... |
ORPHA:508542 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Facial edema, Macroglossia, Bradycardia |
ORPHA:226307 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased ... |
ORPHA:293978 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... |
OMIM:600460 |
| Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
| Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block |
ORPHA:228308 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Arrhythmia, Type 2 muscle fiber predominance, Skeletal muscle atrophy |
OMIM:615471 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Arrhythmia, Myopathy, Rhabdomyolysis, Cardiomyopathy |
ORPHA:157 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Dilation of Virchow-Robin spaces, Contracture of the proximal interphalangeal joint of the 2nd fi... |
OMIM:300998 |
| Ulnar-Mammary Syndrome |
|
Arrhythmia, Aplasia of the pectoralis major muscle, Camptodactyly of finger, Ventricular septal d... |
ORPHA:3138 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal heart morphology, Ventricular septal defect |
ORPHA:404440 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Nonimmune hydrops fetalis |
OMIM:266200 |
| Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ventricular septal defect |
OMIM:618021 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
| Niemann-Pick Disease Type C |
|
Fetal ascites, Ascites, Foam cells, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops... |
ORPHA:646 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth |
OMIM:602522 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:457193 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Transposition of the great arteries, Patent ductus arteriosus, E... |
OMIM:313850 |
| Noonan Syndrome |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Lymphedema, Abnormal pulmonary valve morphology, Pulmo... |
ORPHA:648 |
| Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Camptodactyly of finger, Ventricular septal defect, Atrial septal ... |
OMIM:244300 |
| Yellow Fever |
|
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... |
ORPHA:99829 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Arrhythmia, Camptodactyly of finger |
ORPHA:3201 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... |
OMIM:620005 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosi... |
ORPHA:96167 |
| Ogden Syndrome |
|
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Premature ventricular contraction... |
OMIM:300855 |
| Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Decreased muscle mass, Mitral regurgitation, Patent foramen ovale, Ventricu... |
OMIM:615582 |
| Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:609053 |
| Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Abnormal EKG, Stroke, Arrhythmia, Prolonged QT interval, Acute rhabdomyolysis, EMG: myopathic abn... |
ORPHA:480864 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Ascites, Arrhythmia, Leiomyosarcoma, Tachycardia, Hypertension |
ORPHA:139411 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Polyhydramnios, Camptodactyly, Atrial septal defect, Ventricular septal defect |
OMIM:617360 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... |
OMIM:618748 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventricular hypertrophy, Aortic root aneurysm, Increased nuchal translucency, Ventricular septal ... |
OMIM:620654 |
| Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Arrhythmia, Dehydration |
ORPHA:171876 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,... |
OMIM:277600 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Congenital diaphragmatic hernia, Ventricular septal defect, Coarctation of ... |
OMIM:617602 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Pleural ... |
ORPHA:453499 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... |
OMIM:192430 |
| Pseudotrisomy 13 Syndrome |
|
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... |
OMIM:264480 |
| Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat... |
ORPHA:2473 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atrial septal defect, Ventricu... |
OMIM:613001 |
| Sotos Syndrome |
|
Muscular ventricular septal defect, Decreased fetal movement, Ventricular septal defect, Atrial s... |
OMIM:117550 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| Localized Scleroderma |
|
Vasculitis, Skeletal muscle atrophy, Myopathy, Stroke, Arrhythmia, Raynaud phenomenon, Flexion co... |
ORPHA:90289 |
| Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Facial hypotonia, De... |
ORPHA:2131 |
| Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Limb h... |
ORPHA:444072 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Oligohydramnios, Ventricular septal defect, Cardiomegaly, Macroglossia, Abnormal placenta morphol... |
ORPHA:96191 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy ... |
ORPHA:84064 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Bradycardia |
OMIM:218700 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Pulmonary a... |
OMIM:216340 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Polyhydramnios, Ventricular septal defect |
OMIM:615503 |
| Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:270450 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Small for gestational age, Agitation, Hyperactivity |
ORPHA:424 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect |
ORPHA:261250 |
| Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Dehydration |
OMIM:557000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ascending tubular aorta aneurysm, Flexion contracture, Atrial septal defect, Ventricular septal d... |
OMIM:309520 |
| Short Stature-Micrognathia Syndrome |
|
Skeletal muscle hypertrophy, Ventricular septal defect |
OMIM:617164 |
| Specc1L-Related Hypertelorism Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defect, Patent ductus a... |
ORPHA:1519 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Absent circulating B cells, Panhypogammaglobulinemia |
OMIM:307200 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Tetralogy of Fallot, Large placenta, Abnormalities of placenta or umbilical... |
OMIM:222470 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ... |
OMIM:620024 |
| Zellweger Syndrome |
|
Premature birth, Thickened nuchal skin fold, Ventricular septal defect |
ORPHA:912 |
| Hereditary Elliptocytosis |
|
Hydrops fetalis |
ORPHA:288 |
| Granulomatosis With Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... |
ORPHA:900 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Camptodactyly, Pulmonar... |
OMIM:616894 |
| Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small h... |
OMIM:610443 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Tricuspid regurgitation, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septa... |
OMIM:620663 |
| De Barsy Syndrome |
|
Premature rupture of membranes, Prominent veins on trunk, Decreased muscle mass, Decreased fetal ... |
ORPHA:2962 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Abnormal ... |
ORPHA:217085 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pancreatic lymphangiectasis, Ascites, Ventricular septal defect, Pulmonary lymphangiectasia, Poly... |
ORPHA:1655 |
| Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car... |
OMIM:614294 |
| Brain-Lung-Thyroid Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d... |
ORPHA:209905 |
| Familial Gestational Hyperthyroidism |
|
Weight loss, Hyperactivity, Agitation |
ORPHA:99819 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Ventricu... |
OMIM:178110 |
| Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Morgagni diaphragmatic hernia, Ventric... |
OMIM:613309 |
| Dominant Beta-Thalassemia |
|
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure, Hypoplasia of the muscu... |
ORPHA:231226 |
| Mucopolysaccharidosis Type 2 |
|
Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve... |
ORPHA:580 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Abnormal ... |
ORPHA:217093 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic pulmonary valve, Ventricular septal defect |
OMIM:619103 |
| Familial Mediterranean Fever |
|
Vasculitis, Ascites, Arrhythmia, Myocardial infarction, Pedal edema, Pericarditis |
ORPHA:342 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Mitral regurgitation,... |
OMIM:608328 |
| Distal Duplication 5Q |
|
Dextrocardia, Ventricular septal defect |
ORPHA:96097 |
| Leptospirosis |
|
Hypotension, Pulmonary hemorrhage, Pleural effusion, Rhabdomyolysis, Arrhythmia, First degree atr... |
ORPHA:509 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Aortic regurgitation, Ankle flexion contracture, Oligohydramnios, Ventricu... |
ORPHA:464311 |
| Short-Rib Thoracic Dysplasia 12 |
|
Ascites, Patent foramen ovale, Neonatal death, Ventricular septal defect, Polyhydramnios, Patent ... |
OMIM:269860 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Heart murmur, Intracran... |
ORPHA:163979 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Dextrocardia... |
OMIM:619534 |
| Lateral Meningocele Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, Patent ... |
OMIM:130720 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Fetal distress, Tricuspid regurgitation, Palpebral edema, Mitral regurgitat... |
OMIM:614866 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Arrhythmia |
OMIM:273400 |
| Bohring-Opitz Syndrome |
|
Ventricular septal defect, Camptodactyly, Atrial septal defect, Polyhydramnios, Flexion contracture |
OMIM:605039 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Abnormality of prenatal development or birth, Oligohydramnios, Ventricular septal defect, Caesari... |
OMIM:619229 |
| Distal Deletion 19P |
|
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect |
ORPHA:96129 |
| Phocomelia, Schinzel Type |
|
Hydrops fetalis |
ORPHA:2879 |
| Coffin-Siris Syndrome 4 |
|
Macroglossia, Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery a... |
OMIM:614609 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... |
OMIM:607721 |
| Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:222448 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,... |
OMIM:610759 |
| 19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:217346 |
| Botulism |
|
Arrhythmia, Xerostomia |
ORPHA:1267 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Peripheral pulmonary artery stenosis, Caesarian section, Ventricular septal defect |
OMIM:619575 |
| Phelan-Mcdermid Syndrome |
|
Lymphedema, Palpebral edema, Patent ductus arteriosus, Ventricular septal defect |
OMIM:606232 |
| Phakomatosis Pigmentokeratotica |
|
Arrhythmia, Rhabdomyosarcoma, Raynaud phenomenon, Lymphedema |
ORPHA:2874 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:612530 |
| Doors Syndrome |
|
Polyhydramnios, Abnormal placental membrane morphology, Double outlet right ventricle, Thickened ... |
ORPHA:79500 |
| Neu-Laxova Syndrome 1 |
|
Generalized edema, Joint contracture of the hand, Small placenta, Short umbilical cord, Patent fo... |
OMIM:256520 |
| Feingold Syndrome 1 |
|
Interrupted aortic arch, Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Tri... |
OMIM:164280 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Ventricular septal defect, P... |
ORPHA:464738 |
| Chops Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Anomalous pulmonary venous return, Ventricular se... |
OMIM:616368 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Right ventricular ... |
OMIM:300967 |
| Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Oligohydramnios, Diastasis recti, Ventricular septal defect, Macroglossi... |
ORPHA:488632 |
| Alg12-Cdg |
|
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... |
ORPHA:79324 |
| Foodborne Botulism |
|
Arrhythmia, Xerostomia |
ORPHA:228371 |
| Diets-Jongmans Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Breech presentation, Interrupted infe... |
OMIM:618846 |
| Dermatomyositis |
|
Vasculitis, Periorbital edema, Sinus tachycardia, Inflammatory myopathy, EMG: myopathic abnormali... |
ORPHA:221 |
| Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Limb hypertonia, Ventricular septal defect |
OMIM:609460 |
| Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrhythmia, Atrial... |
OMIM:218040 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular septal defect, Coarctation of ... |
OMIM:618454 |
| Beta-Thalassemia Major |
|
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure, Hypoplasia of the muscu... |
ORPHA:231214 |
| Down Syndrome |
|
Secundum atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular se... |
ORPHA:870 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect |
ORPHA:251038 |
| Meier-Gorlin Syndrome 7 |
|
Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ... |
OMIM:617063 |
| C Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:211750 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Ventricular septal def... |
ORPHA:2092 |
| 16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect |
ORPHA:261236 |
| Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
| Codas Syndrome |
|
Atrioventricular canal defect, Polyhydramnios, Atrial septal defect, Ventricular septal defect |
OMIM:600373 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple joint co... |
ORPHA:506 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:79345 |
| Oculodentodigital Dysplasia |
|
Arrhythmia, Camptodactyly of finger, Ventricular septal defect |
ORPHA:2710 |
| Duane-Radial Ray Syndrome |
|
Pectoralis hypoplasia, Ventricular septal defect, Vascular dilatation, Atrial septal defect, Smal... |
OMIM:607323 |
| Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Abnormal heart morphology, Congenital diaphragmatic hernia, Patent foramen ... |
ORPHA:2745 |
| Holoprosencephaly |
|
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Congenital ... |
ORPHA:2162 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Arrhythmia, Facial palsy, Cerebral edema |
ORPHA:68 |
| Myhre Syndrome |
|
Aortic valve stenosis, Skeletal muscle hypertrophy, Ventricular septal defect, Coarctation of aor... |
OMIM:139210 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Macroglossia, Camptodactyly of finger, Tricuspid regurgitation, Ventricular septal defect, Campto... |
ORPHA:261337 |
| Trichohepatoneurodevelopmental Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Distal arthrogryposis, Polyhydramnios, Macro... |
OMIM:618268 |
| Restrictive Dermopathy |
|
Premature birth, Camptodactyly of finger, Small placenta, Large placenta, Short umbilical cord, D... |
ORPHA:1662 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Camptodactyly, Ventricular septal defect |
OMIM:272950 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Oligohydramnios, Multiple joint contractures, Ventri... |
ORPHA:464306 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Tricuspid regurgitation, Arrhythmia, Camptodactyly of finger |
ORPHA:261211 |
| Cohen Syndrome |
|
Decreased fetal movement, Mitral valve prolapse, Ventricular septal defect |
ORPHA:193 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Patent ductus arteriosus, Cephalohematoma, Atrial septal defect, Ventricular septal defect |
OMIM:620558 |
| Fanconi Anemia, Complementation Group N |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610832 |
| 3Mc Syndrome 1 |
|
Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia, Atrial septal defect, Pa... |
OMIM:257920 |
| Cardiospondylocarpofacial Syndrome |
|
Muscular ventricular septal defect, Mitral regurgitation, Patent foramen ovale, Dysplastic tricus... |
OMIM:157800 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
| Limb Body Wall Complex |
|
Amniotic constriction ring, Abnormal heart morphology, Abnormal insertion of umbilical cord, Dias... |
ORPHA:2369 |
| Oculodentodigital Dysplasia |
|
Arrhythmia, Joint contracture of the 5th finger, Atrial septal defect |
OMIM:164200 |
| Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Oligohydramnios, Ventricular septal defect, Camptodactyly, Atrial ... |
OMIM:300373 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Camptodactyly of finger, Tr... |
OMIM:143095 |
| Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis, Ventricul... |
ORPHA:289 |
| Esophageal Atresia |
|
Tetralogy of Fallot, Absence of stomach bubble on fetal sonography, Ventricular septal defect, Co... |
ORPHA:1199 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Macroglossia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:613457 |
| Thauvin-Robinet-Faivre Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Varicose veins, Macroglossia, Pedal edema |
OMIM:617107 |
| Cerebellofaciodental Syndrome |
|
Mitral valve prolapse, Ventricular septal defect |
OMIM:616202 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Tricuspid regurgitation, Abnormal left ventricle morphology, Right ventricular hypertrophy, Paten... |
ORPHA:466791 |
| Rabson-Mendenhall Syndrome |
|
Macroglossia, Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:769 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
OMIM:619381 |
| Wiskott-Aldrich Syndrome |
|
Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Hematemesis... |
ORPHA:906 |
| Hepatoerythropoietic Porphyria |
|
Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis |
ORPHA:95159 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... |
OMIM:251260 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect |
OMIM:619306 |
| Hardikar Syndrome |
|
Premature rupture of membranes, Portal hypertension, Patent foramen ovale, Ventricular septal def... |
OMIM:301068 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
| Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, ... |
OMIM:105650 |
| Chime Syndrome |
|
Tetralogy of Fallot, Pulmonary valve atresia, Transposition of the great arteries, Ventricular se... |
ORPHA:3474 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:300712 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Premature ventricular contraction, Pulmonary arterial hypertension, At... |
OMIM:602535 |
| Simpson-Golabi-Behmel Syndrome |
|
Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Polyhydramnios, Congenital diaphrag... |
ORPHA:373 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Edema of the dorsu... |
OMIM:274000 |
| Marden-Walker Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2461 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Atrioventricular canal defect, Ventricular septal defect, Atrial septal ... |
ORPHA:3047 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Shoulder flexion contracture, Tetralogy of Fallot, Muscular ventricular septal defect, Elbow flex... |
OMIM:210710 |
| Hennekam-Beemer Syndrome |
|
Hypotension, Arrhythmia, Telangiectasia of the skin, Camptodactyly of finger |
ORPHA:2135 |
| Trisomy 18 |
|
Camptodactyly of finger, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal def... |
ORPHA:3380 |
| Degcags Syndrome |
|
Diaphragmatic eventration, Echogenic fetal bowel, Patent foramen ovale, Ventricular septal defect... |
OMIM:619488 |
| Coffin-Siris Syndrome |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:1465 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... |
ORPHA:2556 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Arrhythmia, Camptodactyly of finger |
ORPHA:3220 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Aortic aneurys... |
ORPHA:96121 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
| Williams Syndrome |
|
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic... |
ORPHA:904 |
| Kaufman Oculocerebrofacial Syndrome |
|
Coarctation of aorta, Atrial septal defect, Ventricular septal defect |
OMIM:244450 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Aortic root aneurysm, Congestive heart failure, Abnormal heart morphology, Patent foramen ovale, ... |
ORPHA:444077 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Polyhydramnios, Congenital pulmonary airway malformation, Ventricular septal defect |
ORPHA:436252 |
| Keutel Syndrome |
|
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Ventricular septal defect, Hyp... |
OMIM:245150 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal heart morphology, Increased nuchal translucency, Ventricular septal defect, Bicuspid aor... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal heart morphology, Increased nuchal translucency, Ventricular septal defect, Bicuspid aor... |
ORPHA:352665 |
| Robinow Syndrome |
|
Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta, Pulmonary valve atres... |
ORPHA:97360 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal tricu... |
ORPHA:1507 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ... |
ORPHA:353281 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Arrhythmia |
ORPHA:2878 |
| Congenital Erythropoietic Porphyria |
|
Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis |
ORPHA:79277 |
| Alzahrani-Kuwahara Syndrome |
|
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... |
OMIM:619268 |
| Noonan Syndrome 1 |
|
Chylothorax, Lymphedema, Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of a... |
OMIM:163950 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
| Fryns Syndrome |
|
Joint contracture of the hand, Chylothorax, Ventricular septal defect, Camptodactyly, Atrial sept... |
OMIM:229850 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... |
ORPHA:363958 |
| Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrophy, Myopathy, Hip... |
ORPHA:800 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Oligohydram... |
ORPHA:2729 |
| Van Esch-O'Driscoll Syndrome |
|
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect |
OMIM:301030 |
| Vater/Vacterl Association |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Single umbil... |
OMIM:192350 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Ventricular septal defect, Coarctation of aorta, P... |
ORPHA:2308 |
| Acrofacial Dysostosis 1, Nager Type |
|
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Patent ductus ar... |
OMIM:154400 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrial septal defect |
OMIM:250220 |
| Pallister-Hall Syndrome |
|
Neonatal death, Preductal coarctation of the aorta, Patent ductus arteriosus, Ventricular septal ... |
OMIM:146510 |
| Plague |
|
Hypotension, Arrhythmia, Hematemesis, Tachycardia, Endocarditis, Edema |
ORPHA:707 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia |
ORPHA:83617 |
| Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Breech presentation, Atrial septal defect, Flexi... |
OMIM:617140 |
| Foxp1 Syndrome |
|
Attention deficit hyperactivity disorder, Overweight, Repetitive compulsive behavior, Failure to ... |
ORPHA:391372 |
| Alagille Syndrome 1 |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Ventricular sep... |
OMIM:118450 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Right ventricular hyper... |
OMIM:312870 |
| Mosaic Trisomy 20 |
|
Dysplastic tricuspid valve, Abnormal mitral valve morphology, Ventricular septal defect |
ORPHA:1724 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Overriding aorta, Coarctation of aorta, Dextrocardia, Camptodactyly |
OMIM:616145 |
| Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Ventricular septal defect |
OMIM:227645 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... |
ORPHA:391487 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Abnormal heart morphology, Oligohydramnios, Abnormal... |
ORPHA:268261 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular septal defect, Varicose v... |
ORPHA:500095 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Congestive heart failure, Camptodactyly of finger, Elbow flexion contrac... |
OMIM:256040 |
| Smith-Lemli-Opitz Syndrome |
|
Hypertrophic cardiomyopathy, Decreased fetal movement, Ventricular septal defect, Coarctation of ... |
OMIM:270400 |
| Cerebrocostomandibular Syndrome |
|
Elbow flexion contracture, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Paten... |
OMIM:117650 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Weakness of facial musculature, Premature birth, Ventricular septal defect |
OMIM:619418 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal hypertrophy, Oligohydramnios, Ventricular septal defect |
OMIM:608670 |
| Cornelia De Lange Syndrome 6 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Ventricular septal defect |
OMIM:620568 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tetralogy of Fallot, Facial hypotonia, Ventricular septal defect, Atrial septal defect, Small the... |
OMIM:613458 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ... |
ORPHA:353277 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Arrhythmia |
OMIM:106300 |
| Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, Increased nuchal translucency, Congenital diaphragmatic hernia, Ve... |
ORPHA:818 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Fle... |
OMIM:271640 |
| Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Lower limb hypertonia, Upper eyelid edema, Ventricular septal defe... |
OMIM:616268 |
| Jacobsen Syndrome |
|
Flexion contracture, Atrial septal defect, Ventricular septal defect |
OMIM:147791 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap... |
ORPHA:363700 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Abnormal aortic arch morphology, Interphalangeal joint contracture of finger, Hypertrophic cardio... |
ORPHA:96334 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Dilatation of the ventricular cavity, Ventricular septal defect, Pulmonary artery stenosis, Atria... |
ORPHA:459070 |
| Rubinstein-Taybi Syndrome 1 |
|
Hypoplastic left heart, Aortic isthmus hypoplasia, Mitral valve prolapse, Ventricular septal defe... |
OMIM:180849 |
| Larsen Syndrome |
|
Aortic aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:150250 |
| Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Situs inversus totalis, Knee flexion contracture, Transposition of the g... |
OMIM:614976 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce... |
ORPHA:90041 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Arterial dissection, Epistaxis, Aortic root aneurysm, Mitral valve prolapse, Venous insufficiency... |
ORPHA:285 |
| Liver Disease, Severe Congenital |
|
Ascites, Dilatation of the ventricular cavity, Patent foramen ovale, Ventricular septal defect, C... |
OMIM:619991 |
| Ivic Syndrome |
|
Arrhythmia |
ORPHA:2307 |
| Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
| Autosomal Dominant Hypocalcemia |
|
Hypotension, Arrhythmia, Congestive heart failure |
ORPHA:428 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Tetralogy of Fallot, Situs inversus totalis, Ventricular septal de... |
OMIM:309500 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect |
ORPHA:1393 |
| Hydrolethalus Syndrome 1 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Agenesis of the diaphragm, Sti... |
OMIM:236680 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... |
OMIM:301044 |
| Ulnar-Mammary Syndrome |
|
Elbow flexion contracture, Arrhythmia, Ventricular septal defect |
OMIM:181450 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent... |
ORPHA:438213 |
| Penile Agenesis |
|
Oligohydramnios, Fetal pyelectasis, Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Dilated cardiomyopathy, Aortic root aneurysm, Camptodactyly of finger, Tetralogy of Fallot, Paten... |
OMIM:607872 |
| Cockayne Syndrome A |
|
Persistent left superior vena cava, Arrhythmia, Hypertension, Hip contracture |
OMIM:216400 |
| African Trypanosomiasis |
|
Second degree atrioventricular block, Third degree atrioventricular block, Premature birth, Conge... |
ORPHA:3385 |
| Omodysplasia 1 |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:258315 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydrops fetalis |
ORPHA:93271 |
| Mowat-Wilson Syndrome |
|
Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st... |
OMIM:235730 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Pulmonary artery aneurysm, Biventricular hypertrophy, Partial atrioventricular canal defect, Pate... |
OMIM:616462 |
| Chromosome 13Q14 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:613884 |
| Williams-Beuren Syndrome |
|
Peripheral pulmonary artery stenosis, Myxomatous mitral valve degeneration, Coronary artery steno... |
OMIM:194050 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Arrhythmia, Arthrogryposis multiplex congenita |
ORPHA:163746 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:619525 |
| Stickler Syndrome |
|
Macroglossia, Arrhythmia, Skeletal muscle atrophy, Mitral valve prolapse |
ORPHA:828 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Lower-limb joint contracture, Right aortic arch, Ventricular septal defect |
ORPHA:513456 |
| Johanson-Blizzard Syndrome |
|
Generalized edema, Dilated cardiomyopathy, Anasarca, Ascites, Portal hypertension, Situs inversus... |
OMIM:243800 |
| Sarcoidosis |
|
Chylothorax, Portal hypertension, Pleural effusion, Joint swelling, Arrhythmia, Abnormal cardiac ... |
ORPHA:797 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
| Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
| Cockayne Syndrome B |
|
Arrhythmia, Hypertension |
OMIM:133540 |
| Orofaciodigital Syndrome Xiv |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:615948 |
| Genitopatellar Syndrome |
|
Knee flexion contracture, Hip contracture, Ventricular septal defect, Atrial septal defect, Polyh... |
OMIM:606170 |
| Peters-Plus Syndrome |
|
Diastasis recti, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Patent ductus a... |
OMIM:261540 |
| Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
| Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Oligohydramnios, Ventricular septal defect, Coarctation of aorta, ... |
ORPHA:672 |
| Roberts-Sc Phocomelia Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Ventricular septa... |
OMIM:268300 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Premature rupture of membranes, Camptodactyly of 2nd-5th fingers, Hypertro... |
OMIM:601803 |
| Sotos Syndrome |
|
Ankle flexion contracture, Abnormal heart morphology, Hip contracture, Ventricular septal defect,... |
ORPHA:821 |
| Townes-Brocks Syndrome 1 |
|
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect |
OMIM:107480 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Hyphema, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonar... |
ORPHA:261552 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of facial musculature, Tetralogy of Fallot, Right aortic arch, Ventricular septal defe... |
OMIM:164210 |
| Malt Lymphoma |
|
Anemia |
ORPHA:52417 |
