| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Death in middle age, Left ventricular hypertrophy, Left ventricular outf... |
OMIM:613251 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Death in adolescence, Left ventricular hypertrophy, Le... |
OMIM:612158 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... |
OMIM:612124 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... |
OMIM:614954 |
| Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... |
OMIM:613694 |
| Cardiomyopathy, Dilated, 2G |
|
Increased Z-disc width, Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemor... |
OMIM:619897 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... |
OMIM:611528 |
| Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
| Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
| Cardiomyopathy, Dilated, 1O |
|
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... |
OMIM:608569 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... |
OMIM:602087 |
| Ventricular Tachycardia, Familial |
|
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Atrial Standstill 1 |
|
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... |
OMIM:108770 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
| His Bundle Tachycardia |
|
Arrhythmia, Junctional ectopic tachycardia, Neoplasm of the heart, Cardiomyopathy |
ORPHA:3283 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Atrial septal defect, Le... |
OMIM:612098 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... |
OMIM:601493 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... |
OMIM:618920 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia |
OMIM:611938 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... |
OMIM:613697 |
| Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Reduced left ventricular ejection fraction, Distal lower limb muscle weakness, Achilles tendon co... |
OMIM:181350 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... |
OMIM:602086 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... |
ORPHA:300751 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block |
ORPHA:1479 |
| Cardiomyopathy, Dilated, 2F |
|
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... |
OMIM:619747 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Ventricular tachycardia, Cardiomyocyte hypertrophy, Death in adolescenc... |
OMIM:605676 |
| Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... |
OMIM:610193 |
| Cardiomyopathy, Dilated, 1Oo |
|
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... |
OMIM:620247 |
| Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, Scapular wingi... |
OMIM:613507 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Right ventricular dilatation, Left bundle branch block, First degree atr... |
OMIM:615616 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hypertrophy... |
OMIM:115197 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Left atrial enlarge... |
OMIM:617047 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Minicore myopathy, Myopathy, Calf muscle hypertrophy, Arrhythmia, Severely reduced left ventricul... |
OMIM:611705 |
| Cardiomyopathy, Dilated, 1Ii |
|
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... |
OMIM:615184 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
| Isolated Right Ventricular Hypoplasia |
|
Systolic heart murmur, Clubbing, Right ventricular failure, Atrial septal defect, Right-to-left s... |
ORPHA:439 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Cardiomyocyte hypertrophy, Shoulder girdle muscle ... |
ORPHA:263297 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... |
OMIM:614916 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... |
OMIM:618782 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Absent P wave, Palpitations, Knee flexion contracture, Decreased cervical spine flexion... |
OMIM:310300 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Left ventricular h... |
OMIM:108900 |
| Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... |
OMIM:612877 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Fibrofatty replacem... |
OMIM:609040 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... |
OMIM:615441 |
| Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy, Restrictive cardiomyopathy, Dilated cardiomyopathy, H... |
OMIM:601419 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... |
OMIM:607450 |
| Long Qt Syndrome 3 |
|
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... |
OMIM:603830 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... |
ORPHA:168796 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Arrhythmia, Calf muscle pseudohypertrophy |
OMIM:300376 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
| Danon Disease |
|
Ventricular tachycardia, Lower limb amyotrophy, Wolff-Parkinson-White syndrome, Syncope, Severely... |
OMIM:300257 |
| Holt-Oram Syndrome |
|
Down-sloping shoulders, Abnormality of the humerus, Paroxysmal atrial fibrillation, Hypoplastic l... |
ORPHA:392 |
| Atrial Fibrillation, Familial, 15 |
|
Left atrial enlargement, Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Atri... |
OMIM:615770 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:609909 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... |
OMIM:613873 |
| Cardiomyopathy, Dilated, 2D |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Mitral regurgitation, Reduced lef... |
OMIM:619371 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricular arrhyt... |
OMIM:610476 |
| Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
| Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Pulmonary arterial hypertension, Third heart sound,... |
ORPHA:99106 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG... |
ORPHA:1329 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Atrial septal defect, Cardiomyopathy, Oligohydramnios... |
ORPHA:1909 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
| Long Qt Syndrome 10 |
|
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... |
OMIM:611819 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Nonimmune hydrops fetalis, Concentric hyp... |
OMIM:618052 |
| Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Distal lower limb muscle weakness, Weakness of facial mus... |
ORPHA:98909 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Patent foramen ovale, Bradycardia, Ventri... |
ORPHA:542306 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Reduced left ventricular ejection fraction, Right atrial enlargement, Abnormal ST se... |
OMIM:612422 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... |
OMIM:140400 |
| Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... |
ORPHA:563 |
| Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block |
ORPHA:85447 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Leg muscle stiffness, Intrinsic hand muscle atrophy, Heart block, Wrist drop, Cardiomyopathy, Pro... |
ORPHA:98912 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Miscarriage, Polyhydramnios, Arrhythmia, Capillary leak, Abnormal hear... |
ORPHA:1041 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
| Nathalie Syndrome |
|
Abnormal EKG, Skeletal muscle atrophy |
OMIM:255990 |
| Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... |
OMIM:601005 |
| Congenital Myopathy 24 |
|
Type 1 muscle fiber predominance, Cardiomyopathy, Nemaline bodies, First degree atrioventricular ... |
OMIM:617336 |
| Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome, Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydac... |
OMIM:140450 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability |
OMIM:614896 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
| Familial Progressive Cardiac Conduction Defect |
|
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure |
ORPHA:871 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Perimembranous ventricular septal defect, Oligohydramnios, Hypertrophic car... |
OMIM:620135 |
| Cardiomyopathy, Dilated, 1Y |
|
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... |
OMIM:611878 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Ventricular septal defect, Bacterial endocarditis, Perimembranous... |
ORPHA:99095 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect |
OMIM:614474 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... |
OMIM:113900 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left at... |
OMIM:608751 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation, Atrial septal defect |
OMIM:613087 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... |
OMIM:600884 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Patent foramen ovale |
OMIM:617182 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Mitral regurgitation, Pulmonic stenosis, Left atrial enlargement, Sick sinus syndrome, Bicuspid a... |
OMIM:616201 |
| Naxos Disease |
|
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... |
ORPHA:34217 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Lower limb muscle weakness, Forearm supination contracture, Skeletal muscle atrophy, Knee flexion... |
OMIM:300695 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy, Muscular dystrophy |
OMIM:309930 |
| Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Left ventricular systolic dysfuncti... |
ORPHA:206559 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... |
OMIM:115195 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... |
ORPHA:216694 |
| Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... |
ORPHA:217607 |
| Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Endocardial fibrosis, Mitral regurgitation, Left atrial e... |
ORPHA:75566 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Hypotension, Cardiomyopathy, Ventricular... |
OMIM:212138 |
| Sick Sinus Syndrome 1 |
|
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... |
OMIM:608567 |
| Brugada Syndrome 2 |
|
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... |
OMIM:611777 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
| Long Qt Syndrome 14 |
|
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... |
OMIM:616247 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Death in infancy, Tricuspid regurgitation, Pulm... |
OMIM:619433 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Hydrops fetalis, Arrhythmia, Supraventr... |
ORPHA:45452 |
| Ethanolaminosis |
|
Cardiomegaly, Death in infancy |
OMIM:227150 |
| Fetal Parvovirus Syndrome |
|
Ascites, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy |
ORPHA:295 |
| Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Muscle fiber hyaline bodies, Proximal amyotrophy, Fourth heart sound, R... |
OMIM:255160 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Abnormal hand morphology, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
| Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
| Ebstein Anomaly |
|
Right bundle branch block, Atrial septal defect, Atrial standstill, Sudden cardiac death, Ebstein... |
OMIM:224700 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Muscular dystrophy, Skeletal muscle ... |
OMIM:616812 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Total anomalous pulmonary venous re... |
OMIM:614779 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Infantile Sialic Acid Storage Disease |
|
Death in childhood, Hydrops fetalis, Hepatomegaly, Metaphyseal irregularity, Congestive heart fai... |
OMIM:269920 |
| Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia, Dilatation ... |
OMIM:600996 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Right bundle branch block |
OMIM:613158 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, At... |
ORPHA:2041 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Hydrops fetalis, Death in infancy, Dilated cardiomyopathy, Hypertrophic ... |
OMIM:618815 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... |
OMIM:604765 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Ventricular tachycardia, Cardiomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... |
ORPHA:1677 |
| Brugada Syndrome 1 |
|
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... |
OMIM:601144 |
| Long Qt Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613688 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... |
ORPHA:98855 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Ventricular tachycardia, Tachycardia, Ventricular septal defect,... |
ORPHA:26793 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Chylopericardi... |
ORPHA:2414 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Cardiomyopathy, Fatty replacement of skeletal muscle, Supraventricular tachycardia, Myopathy |
OMIM:255100 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:615821 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... |
ORPHA:99103 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Right bundle branch block, Abnormal endocardium morphology, Atrial septal defect, Arrhythmia, Imp... |
ORPHA:1880 |
| Heart Block, Congenital |
|
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Myocardial fibrosis, Absent atriove... |
OMIM:234700 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
| Acute Peripheral Arterial Occlusion |
|
Absent ankle pulse, Abnormality of venous physiology, Supraventricular tachycardia, Abnormal capi... |
ORPHA:90064 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... |
ORPHA:98853 |
| Cardiac Diverticulum |
|
Abnormality of the diaphragm, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallo... |
ORPHA:1686 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval |
OMIM:220400 |
| Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... |
OMIM:614049 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Doub... |
OMIM:617912 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Anasarca, Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Br... |
OMIM:261740 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Sclerotic cranial sutures, Ventricular septal defect, Atrial septal defect, Arthropathy, Abnormal... |
ORPHA:371428 |
| Nephrosialidosis |
|
Death in childhood, Pericardial effusion, Ascites |
OMIM:256150 |
| Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
| Long Qt Syndrome 6 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613693 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy, Hepatomegaly, Death... |
OMIM:608540 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Arthritis, Abnormal cardiac septum morphology... |
ORPHA:1937 |
| Atrial Septal Defect 1 |
|
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Second degree atr... |
OMIM:108800 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion... |
OMIM:614702 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... |
ORPHA:85451 |
| Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... |
ORPHA:98863 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Hype... |
OMIM:613690 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Left ventricular outflow ... |
OMIM:615779 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Edema, Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy, Tela... |
ORPHA:101028 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Total anomalous pulmonary venous return, Atrioventricula... |
OMIM:613751 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... |
ORPHA:1055 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Hypertension... |
OMIM:614473 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Hydrops fetalis, Atrial septal defect, Overriding aorta, Atrial flutte... |
OMIM:601927 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Brachydactyly, Muscular ventricular septal defect, Adducted thumb, Single transverse palmar crease |
OMIM:620062 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Hand polydactyly, Abnormal 3rd finger morphology, Pulmonic stenosis, Atrial septal defect, Ventri... |
OMIM:249670 |
| Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Left atrial enlargement, Dea... |
OMIM:619424 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
| Long Qt Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... |
OMIM:192500 |
| Partial Atrioventricular Septal Defect |
|
Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Anomalous pulmonary venous r... |
ORPHA:1330 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Mitral regurgitation, Left atrial enlargement, Syncope, Pulmonary ... |
ORPHA:75249 |
| Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Aplasia/hypoplasia involving bones of the upper limbs, Atrioventricular canal... |
ORPHA:40366 |
| Feingold Syndrome 2 |
|
Short thumb, Ventricular septal defect, Short middle phalanx of the 5th finger, Short middle phal... |
OMIM:614326 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Tetralogy of ... |
OMIM:208530 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... |
OMIM:115000 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Ventricular septal defect, Hypertensi... |
OMIM:617021 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval |
OMIM:615378 |
| Liebenberg Syndrome |
|
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... |
OMIM:186550 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnormal ventriculoarteria... |
ORPHA:860 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Perimembranous ve... |
OMIM:600987 |
| Holt-Oram Syndrome |
|
Aplasia of the ulna, Secundum atrial septal defect, Limited elbow extension, Small thenar eminenc... |
OMIM:142900 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
| Neonatal Lupus Erythematosus |
|
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Abnormal heart mor... |
ORPHA:398124 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia, Perimembranous ventricula... |
OMIM:617877 |
| Developmental And Epileptic Encephalopathy 101 |
|
Bradycardia, Third degree atrioventricular block, Limb joint contracture |
OMIM:619814 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hydrops fetalis, Polyhydramnios, Hepatomegaly, Fetal ascites, Fetal pleural effusion, Fetal peric... |
OMIM:619462 |
| Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Congestive heart failure, Hydrops fetalis |
OMIM:236750 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed ossification of carpal bones, Delayed epiphyseal ossification, Short middle phalanx of fi... |
OMIM:182255 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Syncope, Palpita... |
ORPHA:99104 |
| Mulibrey Nanism |
|
Hydrops fetalis, Hepatomegaly, Congestive heart failure, Thickened cortex of long bones, Pericard... |
OMIM:253250 |
| Klippel-Trénaunay Syndrome |
|
Edema, Hydrops fetalis, Atrial septal defect, Pulmonary embolism, Hepatomegaly, Abnormal tricuspi... |
ORPHA:90308 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplasia of right ventricle, Atrial septal defect, Total ... |
OMIM:616749 |
| Andersen-Tawil Syndrome |
|
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Abnormal T-wave, Tor... |
ORPHA:37553 |
| Atrial Fibrillation, Familial, 9 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... |
OMIM:613980 |
| Craniosynostosis, Adelaide Type |
|
Craniosynostosis, Hallux valgus, Carpal bone malsegmentation, Shortening of all distal phalanges ... |
OMIM:600593 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Camptodactyly, Decreased fetal movement, Edema, Hepatomegaly, Perimembranous ventricular septal d... |
OMIM:608104 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Broad finger, Pericardial effusion, Small hand, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrops fetalis, Polyhydramnios, Hepatomegaly, Congestive heart failure, Oligohydramnios, Pericar... |
ORPHA:163596 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
| Sandestig-Stefanova Syndrome |
|
Camptodactyly, Prominent metopic ridge, Decreased fetal movement, Perimembranous ventricular sept... |
OMIM:618804 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hydrops fetalis, Neonatal death, Endocardial fibroelastosis, Hand oligodactyly |
OMIM:276822 |
| Feingold Syndrome Type 2 |
|
Short thumb, Ventricular septal defect, Short middle phalanx of finger, Toe syndactyly, Brachydac... |
ORPHA:391646 |
| Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Distal lower limb muscle weakness, Hand muscle weakness, Increased endomysial connective tissue, ... |
ORPHA:437572 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Lower limb muscle weakness, Cardiomyopathy, Lower limb hypertonia, Generalized amyo... |
ORPHA:1177 |
| Brugada Syndrome 9 |
|
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope |
OMIM:616399 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Atrial septal defect, Ventricular septal defect, Abnormal mitral ... |
ORPHA:1354 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Increased nuchal translucency, Secundum atrial septal defect, Mitral regurgitation, Ventricular s... |
OMIM:620066 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Death in childhood, Decreased fetal movement, Ventricular septal defect |
OMIM:253300 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Radial Hemimelia |
|
Abnormality of the trapezium, Abnormality of the scaphoid, Aplasia of the 1st metacarpal, Abnorma... |
ORPHA:93321 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Sandal gap, Clinodactyly of the 5th finger, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
| Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block, Joint contracture of the 5th finger |
OMIM:614407 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... |
OMIM:611875 |
| Chondrodysplasia, Blomstrand Type |
|
Hydrops fetalis, Polyhydramnios, Advanced ossification of carpal bones, Fetal ascites, Stillbirth... |
OMIM:215045 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Atrial septal defect, Polyhydramnios, Death in infancy, Rocker bottom f... |
OMIM:620070 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
| Histiocytoid Cardiomyopathy |
|
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular s... |
ORPHA:137675 |
| Fanconi Anemia, Complementation Group Q |
|
Absent thumb, Primum atrial septal defect |
OMIM:615272 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Ventricular septal defect, Left ventricular hypertrophy, Hyperte... |
OMIM:615474 |
| Long Qt Syndrome 5 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... |
OMIM:613695 |
| Long Qt Syndrome 12 |
|
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation |
OMIM:612955 |
| Sonoda Syndrome |
|
High axial triradius, Ventricular septal defect |
OMIM:270460 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death |
OMIM:604401 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Neonatal death, Cardiomyopathy |
OMIM:619003 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Fractured radius, Decreased fibular diameter, Hydrops fetalis, Ventricular septal defect, Polyhyd... |
OMIM:616897 |
| Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
| Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
| Neuraminidase Deficiency |
|
Hydrops fetalis, Cardiomyopathy, Facial edema, Hepatomegaly, Epiphyseal stippling, Cardiomegaly, ... |
OMIM:256550 |
| Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Ventricular tachycardia, Abnormality of masseter muscle, High-ou... |
ORPHA:423 |
| Atrial Septal Defect 2 |
|
Dextrocardia, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Ventricular septal d... |
OMIM:607941 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Hydrops fetalis, Polyhydramnios, Abnormal tricuspid valve morphology, ... |
ORPHA:3405 |
| Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
| Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Mitral regurgitation, Palmoplantar cutis laxa, Edema, Ventricula... |
ORPHA:363705 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Ventricular septal defect, Hypertension, Interphalangeal thumb joint contra... |
OMIM:613870 |
| Atrial Fibrillation, Familial, 3 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... |
OMIM:607554 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Pseudoachondroplasia |
|
Wind-swept deformity of the knees, Increased laxity of ankles, Osteoarthritis, Irregular epiphyse... |
ORPHA:750 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Camptodactyly, Atrial septal defect, Overlapping toe, Perimembranous ventricular septal defect, A... |
ORPHA:363444 |
| Congenital Tricuspid Valve Dysplasia |
|
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hep... |
ORPHA:555874 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Camptodactyly, Pulmonic stenosis, Ventricular septal defect, Overlapping toe, Atrial septal defec... |
OMIM:614262 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Cantu Syndrome |
|
Metaphyseal widening, Coxa valga, Bicuspid aortic valve, Congenital hypertrophy of left ventricle... |
OMIM:239850 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Prolonged QTc interval, Ventricular tachycardia, Rhabdomyolysis, Torsade de point... |
OMIM:616878 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in childhood, Reduced left ventricular ejection fraction, Death in infancy, Neonatal death,... |
OMIM:614096 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... |
OMIM:617300 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:125520 |
| Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Decreased fetal movement, Edema, Hydrops fetalis, Polyhydramnios, Cardiomyopa... |
OMIM:232500 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis |
OMIM:192600 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... |
OMIM:614022 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid atresia, Mitral regurgitation, Double inlet left ventricle, Pulmonic stenosis, Edema, H... |
OMIM:212093 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Ventricular tachycardia, Dilated cardiomyopathy, Ventricular fibrillation, Histio... |
OMIM:300952 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Decreased fetal movement, Hip dislocation, Edema, Hepatomegaly, Pericardial e... |
OMIM:608776 |
| Fixed Subaortic Stenosis |
|
Systolic heart murmur, Mitral regurgitation, Pulmonic stenosis, Paroxysmal atrial fibrillation, V... |
ORPHA:3092 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Distal lower limb muscle weakness, Bilateral facial palsy, Proximal upper limb muscle hypertrophy... |
ORPHA:254361 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Decreased fetal movement, Polyhydramnios, First degree atrioventricular block, Bundle branch bloc... |
ORPHA:589821 |
| Long Qt Syndrome 11 |
|
Prolonged QTc interval, Syncope |
OMIM:611820 |
| Laubry-Pezzi Syndrome |
|
Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Ventricular se... |
ORPHA:99094 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Hepatomegaly, Epiphyseal stippling, Ventricular septal defect |
OMIM:614876 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Ventricular septal defect, Atrial septal defect, Congestive heart failure, Paroxy... |
ORPHA:49827 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Aplasia of the middle phalanx of the 4th toe, Sh... |
OMIM:615297 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Nonimmune hydrops fetalis, Upper limb undergrowth, Hydrops fetalis |
OMIM:613124 |
| Familial Cutaneous Collagenoma |
|
Cardiomyopathy, Angina pectoris, Congestive heart failure, Atrial septal defect |
ORPHA:53296 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Tetralogy of Fallot, Ventricular septal defect, Left ventricular outflow tract obstruction, Subva... |
OMIM:614980 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Ventricular tachycardia, Hypotension, Arrhythmia, Cardiomyopathy |
ORPHA:159 |
| Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Myopathy |
ORPHA:104 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
| Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Left ventricular hypertrophy, Knee flexion contracture, EMG: myopathic ab... |
OMIM:619040 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effu... |
OMIM:619313 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Abnormal epiphysis morp... |
ORPHA:1388 |
| Boomerang Dysplasia |
|
Abnormality of the humerus, Hydrops fetalis, Aplasia/Hypoplasia of the fibula, Polyhydramnios, Fi... |
ORPHA:1263 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Palpitations, Tachycardia, Hypertrophic cardiomyopathy |
ORPHA:276556 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short thumb, Intrinsic hand muscle atrophy, Short 4th metacarpal, Short 3rd metacarpal, Tapered f... |
OMIM:618569 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypertension... |
ORPHA:369929 |
| Aorta Coarctation |
|
Pulmonary arterial hypertension, Hypoplastic left heart, Tetralogy of Fallot, Hypertension, Perim... |
ORPHA:1457 |
| Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Dyspla... |
ORPHA:3093 |
| Myotonic Dystrophy 1 |
|
Atrial flutter, Facial diplegia, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
| Grange Syndrome |
|
Ventricular septal defect, Hypertension, Syndactyly, Aortic regurgitation, Short palm |
ORPHA:79094 |
| Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... |
OMIM:615344 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect |
OMIM:611363 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy, Hamstring contractures, Knee flexion contracture, Muscu... |
OMIM:310200 |
| Kearns-Sayre Syndrome |
|
Arrhythmia, Cardiomyopathy, Third degree atrioventricular block, Ragged-red muscle fibers |
OMIM:530000 |
| Sudden Cardiac Failure, Infantile |
|
Myocarditis, Myocardial fibrosis, Sudden cardiac death, Congestive heart failure, Hypertrophic ca... |
OMIM:617222 |
| Nemaline Myopathy 9 |
|
Polyhydramnios, Fetal akinesia sequence, Breech presentation, Ventricular septal defect |
OMIM:615731 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Proximal muscle weakness in lower limbs, Reduced left ventricular ejection fraction... |
ORPHA:268 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hydrops fetalis, Abnormality of limb bone morphology, Polyhydramnios, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:600919 |
| Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... |
ORPHA:101016 |
| Meacham Syndrome |
|
Dextrocardia, Hypoplastic left heart, Atrial septal defect, Tetralogy of Fallot, Ventricular sept... |
OMIM:608978 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Postaxial oligodactyly, Atrial septal defect, Aplasia/Hypoplasia of the fibula, Short 5th finger,... |
ORPHA:52056 |
| Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Abnormal carpal morphology, Abnormal... |
ORPHA:2632 |
| Chromosome 9P Deletion Syndrome |
|
Dermatoglyphic variants, Clinodactyly of the 5th toe, Atrial septal defect, Ventricular septal de... |
OMIM:158170 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Persistent fetal circulation, Hypertrophic cardi... |
OMIM:618775 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bacterial endocarditis, Atr... |
ORPHA:97214 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Leri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Abnormal metatarsal morphology, Increased carrying angle, Abnormal ca... |
OMIM:127300 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Wolff-Parkinson-White syndrome, Distal lower limb muscle... |
OMIM:619566 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Palpitations, Tachycardia, Hypertrophic cardiomyopathy |
ORPHA:276575 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Atrial septal defect, Sudden cardiac death, Congestive heart failur... |
OMIM:610198 |
| Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Ventricular septal defect |
ORPHA:1918 |
| Brugada Syndrome 7 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... |
OMIM:613120 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Metaphyseal chondrodysplasia, Arrhythmia, Short metacarpal, Short palm, Atrioventric... |
ORPHA:93317 |
| Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis, Pericardial effusion |
ORPHA:231111 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:618205 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Palpitations, Tachycardia, Hypertrophic cardiomyopathy |
ORPHA:276580 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Postaxial hand polydactyly, Mitral regurgitation, Ventricular... |
ORPHA:83473 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cardiac arrest, Secundum atrial septal defect, Situs inversus totalis, Polydactyly, Ventricular s... |
OMIM:619534 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polydactyly, Anhydramnios, Pericardial effusion, Talipes equinovarus |
OMIM:613885 |
| Mungan Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis, Tricuspid regurgitation |
OMIM:611376 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,... |
ORPHA:615 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... |
ORPHA:439232 |
| Lethal Congenital Contracture Syndrome 10 |
|
Fetal akinesia sequence, Ventricular septal defect, Hydrops fetalis, Overriding aorta, Short long... |
OMIM:617022 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Short tibia, Madelung deformity, Dorsal subluxation of ulna, Diaphyse... |
ORPHA:240 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Palpitations, Tachycardia |
OMIM:188580 |
| Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
| Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... |
OMIM:618447 |
| Short Qt Syndrome 1 |
|
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... |
OMIM:609620 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Cardiac arrest, Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Death i... |
OMIM:620167 |
| Acromesomelic Dysplasia 2C |
|
Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ... |
OMIM:201250 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Syndactyly, Stillbirth, Duplicat... |
OMIM:263630 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal joint morphology, Abnormal metaphysis morphology, Short metatarsal, Short metacarpal, Sy... |
ORPHA:93351 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Common atrium |
OMIM:619143 |
| Mmep Syndrome |
|
Split foot, Triphalangeal thumb, Ventricular septal defect |
ORPHA:3434 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, Ventricular sept... |
OMIM:619702 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Genu varum, Hydrops fetalis, Metaphyseal cupping, Polyhydramnios,... |
ORPHA:85166 |
| Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Single transverse palmar crease, Muscular ventricular septal defect, Atrial septal defect |
OMIM:618354 |
| White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... |
OMIM:615745 |
| Fibrochondrogenesis 1 |
|
Camptodactyly, Hydrops fetalis, Widely patent sagittal suture, Dumbbell-shaped long bone, Hypopla... |
OMIM:228520 |
| Congenital Enterovirus Infection |
|
Myocarditis, Decreased fetal movement, Pleural effusion, Hypotension, Hydrops fetalis, Polyhydram... |
ORPHA:292 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Ventricular septal defect, Atrial septal defect, Patent foramen ov... |
ORPHA:1209 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiomyopathy |
OMIM:616276 |
| 8P23.1 Duplication Syndrome |
|
Toe syndactyly, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Polyhydramnios, Abnormal morphology of the radius, Ventricular septal defect |
ORPHA:3469 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation |
OMIM:620231 |
| Fetal Gaucher Disease |
|
Decreased fetal movement, Fetal akinesia sequence, Hydrops fetalis, Intracranial hemorrhage, Hepa... |
ORPHA:85212 |
| Weill-Marchesani Syndrome |
|
Mitral regurgitation, Short thumb, Pulmonic stenosis, Ventricular septal defect, Aortic valve ste... |
ORPHA:3449 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... |
OMIM:609621 |
| Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Bradycardia, Ventricular septal defect, Death in infancy, Hypertrophic cardiomyopathy |
OMIM:616277 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... |
OMIM:607078 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Weakness of facial musculature, Cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricula... |
ORPHA:329336 |
| Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Prolonged QT interval, Dilated cardiomyopathy |
ORPHA:66634 |
| Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Breech presentation, Edema, Hydrops fetalis, Polyhydramnios, Stillbirth |
OMIM:600972 |
| Pseudoachondroplasia |
|
Short distal phalanx of finger, Radial metaphyseal irregularity, Osteoarthritis, Irregular epiphy... |
OMIM:177170 |
| Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Acromesomelic Dysplasia 4 |
|
Short finger, Prominent deltoid tuberosities, Broad phalanx, Genu varum, Short metatarsal, Broad ... |
OMIM:619636 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Rhabdomyolysis, Skeletal muscle atrophy, Increased muscle glycogen content, Hypertrophic cardiomy... |
ORPHA:368 |
| Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Angioedema, Abnormal heart valve morphology, Hepatomegaly, Joint disloca... |
ORPHA:36412 |
| Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Mitral regurgitation, Atrial septal d... |
OMIM:620244 |
| Feingold Syndrome Type 1 |
|
Short thumb, 4-5 toe syndactyly, Abnormal heart morphology, Short middle phalanx of finger, Toe s... |
ORPHA:391641 |
| Myotonic Dystrophy 2 |
|
Sternocleidomastoid amyotrophy, Weakness of facial musculature, Palpitations, Premature ventricul... |
OMIM:602668 |
| Gm1-Gangliosidosis, Type I |
|
Hydrops fetalis, Abnormal heart valve morphology, Hepatomegaly, Death in infancy, Congestive hear... |
OMIM:230500 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Hypoplastic ilia, Hydrops fetalis, Broad long bones, Abnormal heart morphology, Incr... |
ORPHA:1865 |
| Gitelman Syndrome |
|
Raynaud phenomenon, Abnormal T-wave, Chondrocalcinosis, Gout, Syncope, Palpitations, Low-to-norma... |
ORPHA:358 |
| Developmental And Epileptic Encephalopathy 96 |
|
Death in infancy, Hydrops fetalis |
OMIM:619340 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Hepatomegaly, Perimembranous ventricular septal defect, Death in i... |
OMIM:608779 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Atrioventricular canal d... |
OMIM:306955 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Nonimmune hydrops fetalis, Cardiomyopathy, Death in infancy, Neonatal death, Premature birth |
OMIM:618839 |
| Okamoto Syndrome |
|
Prominent metopic ridge, Hip dysplasia, Polydactyly, Ventricular septal defect, Abnormal left ven... |
ORPHA:2729 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Single transverse palmar crease, Decreased fetal movement, Clinodactyly of the 5th finger, Ventri... |
OMIM:619717 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Nonimmune hydrops fetalis, Fetal akinesia sequence, Polyhydramnios, Hepatomeg... |
ORPHA:367 |
| Noonan Syndrome 12 |
|
Proximal placement of thumb, Tetralogy of Fallot, Polyhydramnios, Ventricular septal defect, Supr... |
OMIM:618624 |
| Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Myopathy, Arrhythmia, Hypertension,... |
OMIM:540000 |
| Gitelman Syndrome |
|
Rhabdomyolysis, Ventricular tachycardia, Hypotension, Palpitations, Prolonged QT interval |
OMIM:263800 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ej... |
ORPHA:980 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Pedal edema, Clubbing of fingers, Elevated pulmonary artery pressure... |
ORPHA:199241 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Nonimmune hydrops fetalis, Death in infancy, Neonatal death, Hypertrophic cardiomyopathy, Prematu... |
OMIM:618835 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Arrhythmia, Myocardial infarction, Congestive heart failure, Orthostatic hypotensio... |
ORPHA:330001 |
| Meier-Gorlin Syndrome 7 |
|
Craniosynostosis, Clubbing, Atrial septal defect, Heart block, Ventricular septal defect, Second ... |
OMIM:617063 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Atrial septal defect, Abnormality of the palmar creases, Tricuspid reg... |
OMIM:618652 |
| 16P13.11 Microduplication Syndrome |
|
Craniosynostosis, Hand polydactyly, Atrial septal defect, Tetralogy of Fallot, Ventricular septal... |
ORPHA:261243 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Atrial septal defect |
OMIM:614868 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Rhabdomyolysis, Tachycardia, Hypotension |
OMIM:145600 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Camptodactyly, Coronal craniosynostosis, Ventricular septal defect, At... |
OMIM:235510 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Ventricu... |
OMIM:113000 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Camptodactyly of toe, Camptodactyly, Mitral regurgitation, Hallux valgus, Left atrial enlargement... |
OMIM:300280 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Hip dislocation, Bilateral single transverse palmar creases, Short thumb, Abnormally shaped carpa... |
ORPHA:968 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Syndactyly, Right atrial enlargement, Right v... |
OMIM:616028 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... |
ORPHA:2299 |
| Snakebite Envenomation |
|
Rhabdomyolysis, Hypotension, Cardiogenic shock, Intracranial hemorrhage, Cerebral ischemia, Muscl... |
ORPHA:449285 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Pedal edema, Ventricular septal defect |
OMIM:126320 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Arrhythmia, Cardiomyopathy |
OMIM:249270 |
| Ulnar Hemimelia |
|
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... |
ORPHA:93320 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Premature ventricular contraction, Ventricular fibrillation, Sudden cardiac death |
OMIM:612956 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Abnormality of the amniotic fluid, Hydrops fetalis, Arrhythmia, Congestive heart failure, Dilated... |
OMIM:609015 |
| Sotos Syndrome |
|
Decreased fetal movement, Atrial septal defect, Ventricular septal defect, Muscular ventricular s... |
OMIM:117550 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Proximal amyotrophy, Muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle... |
OMIM:614302 |
| Trisomy 1Q |
|
Increased nuchal translucency, Camptodactyly of finger, Ventricular septal defect, Hydrops fetali... |
ORPHA:261344 |
| Trisomy 13 |
|
Ventricular septal defect, Atrial septal defect, Hydrops fetalis, Ectrodactyly, Postaxial hand po... |
ORPHA:3378 |
| Desbuquois Syndrome |
|
Camptodactyly of finger, Abnormal metaphysis morphology, Ventricular septal defect, Coxa valga, G... |
ORPHA:1425 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in childhood, Prominent metopic ridge, Hip dislocation, Short thumb, Tetralogy of Fallot, V... |
OMIM:210710 |
| Temple-Baraitser Syndrome |
|
Pseudoepiphysis of the thumb, Short distal phalanx of finger, Pulmonic stenosis, Proximal placeme... |
OMIM:611816 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Abnormal T-wave, Syncope, Palpitations, Pulmonary embolism, Righ... |
ORPHA:70591 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal defect |
OMIM:235750 |
| 20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial septal defect |
ORPHA:261295 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy |
OMIM:618499 |
| Jervell And Lange-Nielsen Syndrome |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Type E brachydactyly, Short metatarsal, Short 4th metacarpal, Atrial septal defect |
OMIM:113301 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Death in adolescence, Polyhydramnios, Fetal ascites, Neonatal death, F... |
OMIM:620014 |
| Gm1 Gangliosidosis |
|
Hepatosplenomegaly, Camptodactyly of finger, Abnormal metaphysis morphology, Hydrops fetalis, Ven... |
ORPHA:354 |
| Alkuraya-Kucinskas Syndrome |
|
Clinodactyly, Camptodactyly, Edema, Overlapping toe, Cutaneous syndactyly, Adducted thumb, Perica... |
OMIM:617822 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... |
ORPHA:66529 |
| Juvenile Idiopathic Arthritis |
|
Abnormal joint morphology, Joint swelling, Hepatomegaly, Abnormal sacroiliac joint morphology, Jo... |
ORPHA:92 |
| Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Postaxial polydactyly, Hypoplastic left heart, Ventricular septal defect |
OMIM:615996 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
| Alg12-Cdg |
|
Ulnar deviation of the wrist, Camptodactyly, Edema, Proximal placement of thumb, Overlapping fing... |
ORPHA:79324 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Hypertension And Brachydactyly Syndrome |
|
Type E brachydactyly, Hypertension, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger |
OMIM:112410 |
| Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Right ventricular hypertrophy, Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Atrioventricular canal defect, P... |
ORPHA:508498 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Ventricular septal defect, Syndactyly, Tricuspid regurgitation, Portal hyperte... |
OMIM:616589 |
| Fabry Disease |
|
Mitral regurgitation, Left ventricular hypertrophy, Telangiectasia of the skin, Arrhythmia, Hyper... |
ORPHA:324 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Increased nuchal translucency, Limited elbow extension, Finger joint hypermobility, Ventricular s... |
OMIM:618870 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Dextrocardia, Hip dislocation, Ventricular septal defect, Hydrops fetali... |
ORPHA:99776 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia of the proximal phalanges of the hand, Ventricular septal defect, Aplasia/Hypoplasia of t... |
ORPHA:2256 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Short digit, Short metacarpal, Irregular... |
OMIM:616651 |
| Postaxial Oligodactyly, Tetramelic |
|
Postaxial oligodactyly, Postaxial foot polydactyly, Absent fifth metatarsal, Radial bowing, Lunat... |
OMIM:176240 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Congenital Myopathy 8 |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Atrial septal defect, Proximal placement of thumb, A... |
ORPHA:1120 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Left ventricular hypertrophy, Congestive heart failure, Ventricular hypertrophy |
OMIM:619048 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Lower limb muscle weakness, Skeletal muscle atrophy, Right bundle branch block, Ragged-red muscle... |
OMIM:616479 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy,... |
ORPHA:3208 |
| Hemochromatosis, Type 1 |
|
Arthropathy, Arrhythmia, Cardiomyopathy, Hepatomegaly, Telangiectasia, Congestive heart failure, ... |
OMIM:235200 |
| Sialidosis Type 2 |
|
Hydrops fetalis, Hepatomegaly, Splenomegaly, Pedal edema, Ascites |
ORPHA:87876 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
| Monosomy 13Q34 |
|
Common atrium, Pulmonic stenosis |
ORPHA:96168 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Polysyndactyly of hallux, Atrial septal defect, Hydrops fetalis, Posta... |
OMIM:263520 |
| Lethal Congenital Contracture Syndrome 2 |
|
Decreased fetal movement, Edema, Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy |
OMIM:607598 |
| Cardiac-Urogenital Syndrome |
|
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Enlarged kidney, At... |
OMIM:618280 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Death in childhood, Ventricular septal defect |
OMIM:613759 |
| Pericardial And Diaphragmatic Defect |
|
Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Atrial septal defect, Palpitations, Abnor... |
ORPHA:2847 |
| Otopalatodigital Syndrome, Type I |
|
Short distal phalanx of finger, Hip dislocation, Abnormality of the fifth metatarsal bone, Latera... |
OMIM:311300 |
| Kaposiform Lymphangiomatosis |
|
Abnormal humerus morphology, Abnormality of femur morphology, Hepatosplenomegaly, Epidural hemorr... |
ORPHA:464329 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Pulmonary insufficiency, Rig... |
ORPHA:555877 |
| Mgat2-Cdg |
|
Ventricular septal defect, Reflex asystolic syncope, Arrhythmia, Hydrops fetalis, Abnormal heart ... |
ORPHA:79329 |
| Mucopolysaccharidosis, Type Vii |
|
Hydrops fetalis, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Pro... |
OMIM:253220 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Facial palsy, Left bundle branch block, Limb muscle weakness |
OMIM:610131 |
| Diamond-Blackfan Anemia 6 |
|
Mitral regurgitation, Short thumb, Atrial septal defect, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612561 |
| Alg9-Cdg |
|
Prominent metopic ridge, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Hepato... |
ORPHA:79328 |
| Cardiospondylocarpofacial Syndrome |
|
Dysplastic tricuspid valve, Decreased fetal movement, Mitral regurgitation, Atrial septal defect,... |
OMIM:157800 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Diffuse Neonatal Hemangiomatosis |
|
Hydrops fetalis, Polyhydramnios, Hepatomegaly, Premature birth, Ascites |
ORPHA:2123 |
| Schneckenbecken Dysplasia |
|
Nonimmune hydrops fetalis, Bilateral talipes equinovarus, Polyhydramnios, Flat acetabular roof, A... |
OMIM:269250 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in childhood, Pulmonary arterial hypertension, Metaphyseal cupping, Flat acetabular roof, H... |
OMIM:613320 |
| Achondrogenesis Type 1A |
|
Hydrops fetalis, Polyhydramnios, Thickened nuchal skin fold, Short palm, Short foot |
ORPHA:93299 |
| Lymphedema-Distichiasis Syndrome |
|
Nonimmune hydrops fetalis, Ventricular septal defect, Tetralogy of Fallot, Arrhythmia, Lymphedema... |
OMIM:153400 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Cardiomegaly, Premature birth |
OMIM:618838 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Hepatomegaly, Osteoarthritis, Abnormal myocardium morphology, Pe... |
ORPHA:77259 |
| Achondrogenesis Type 1B |
|
Hydrops fetalis, Polyhydramnios, Thickened nuchal skin fold, Talipes equinovarus, Short foot |
ORPHA:93298 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Short middle phalanx of the 4th finger, Limited pronation/supination of forearm, Hydrops fetalis,... |
OMIM:616738 |
| Glycogen Storage Disease Ii |
|
Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia,... |
OMIM:232300 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Talipes equinovarus, Ventricular septal defect |
OMIM:209770 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension, Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Osteogenesis Imperfecta, Type Ii |
|
Nonimmune hydrops fetalis, Broad long bones, Wormian bones, Crumpled long bones, Pulmonary insuff... |
OMIM:166210 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Flat acetabular roof, Advanced ossification of carpal bones, Monkey wrench femoral ne... |
OMIM:617719 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy, Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:618234 |
| Ellis-Van Creveld Syndrome |
|
Common atrium, Atrial septal defect |
OMIM:225500 |
| Rhizomelic Chondrodysplasia Punctata, |
