| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
| Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... |
OMIM:612158 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602087 |
| Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... |
OMIM:212138 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
| Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... |
OMIM:108770 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Atrioventricular block, Achilles tendon contracture, Waddling gait, Decreased cervical ... |
OMIM:310300 |
| Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602086 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... |
OMIM:617182 |
| Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
| His Bundle Tachycardia |
|
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Proximal muscle weakness in lower limbs, Gait imbalance, Weakness of facial musculature, Hip flex... |
ORPHA:63273 |
| Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Weakness of facial musculature, Atrioventricular block, L... |
ORPHA:98909 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... |
OMIM:618920 |
| Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Abnormal heart morpho... |
OMIM:614954 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Leg muscle stiffness, Impaired vibration sensation in the lower limbs, Distal low... |
ORPHA:320360 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:98855 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Myopathy, Hepatomegaly, Pericardial effusion, Atrioventricu... |
OMIM:115197 |
| Leber Hereditary Optic Neuropathy |
|
Postural tremor, Myopathy, Ventricular preexcitation, Retinal telangiectasia, Ataxia, Arrhythmia,... |
ORPHA:104 |
| Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:98853 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Weight loss, Cardiomegaly, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Failure to thrive, A... |
OMIM:618378 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Increased mitochondrial number, Palpitations, Ventricular tachycardia, Ven... |
ORPHA:263297 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Gait disturbance, Hypertrophic cardiomyopathy, Skeletal myopathy, Failure... |
OMIM:302060 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Gait disturbance, Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block... |
ORPHA:98912 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98863 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Patent ductus arteriosus after birth at term, Prolonged QTc interval, Perimembr... |
OMIM:618782 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
| Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
| 3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Nonprogressive cereb... |
OMIM:610198 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
| Kearns-Sayre Syndrome |
|
Ataxia, Third degree atrioventricular block, Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Bacterial endocarditis, Heart block |
ORPHA:1964 |
| Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... |
OMIM:600858 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Failure to thrive, Ventricular hypertrophy, Bradyc... |
OMIM:619048 |
| Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Generalized amyotrophy,... |
OMIM:300257 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
| Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia |
OMIM:300376 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
| Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
| Progressive Familial Heart Block, Type Ia |
|
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... |
OMIM:113900 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakness, Palpitations, Atrioven... |
OMIM:616812 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... |
OMIM:608099 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, EMG: myopathic abnormal... |
OMIM:619040 |
| Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Failure to thrive, Atrioventricular block, Bradycardia, Intention tremor, Truncal ataxi... |
OMIM:614407 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia,... |
OMIM:616201 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... |
ORPHA:99105 |
| Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
| Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Lethargy, Abnorm... |
ORPHA:1329 |
| Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Patent ductus arteri... |
OMIM:601005 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Rimmed vacuoles, Flexion contracture, Scapular winging, Arrhythmia |
OMIM:300696 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia, Patent ductus arteriosus |
OMIM:616276 |
| Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... |
ORPHA:602 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Myopathy, Skeletal muscle atrophy, Steppage gait, Waddling gait, Flexion contracture, Scapulopero... |
OMIM:300695 |
| Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type |
|
Peroneal muscle atrophy, Trophic limb changes, Distal amyotrophy, Atrioventricular block, Abnorma... |
OMIM:118230 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Gait disturbance, Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, EM... |
OMIM:609286 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Left ventricular systoli... |
ORPHA:206559 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Cardiomyopathy |
OMIM:613752 |
| Loeffler Endocarditis |
|
Left atrial enlargement, Aortic valve stenosis, Pericarditis, Mitral regurgitation, Palpitations,... |
ORPHA:75566 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia, Cardiomyopathy |
OMIM:208750 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Decreased activity of mitochondrial complex IV, Failure to thrive, Tremor, Ataxia, Cardiac arrest... |
OMIM:618951 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
| Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Prolonged QT interval, Pericardi... |
ORPHA:26793 |
| Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Distal ... |
OMIM:609200 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QT interval |
OMIM:611820 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology |
ORPHA:111 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... |
ORPHA:57777 |
| Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... |
ORPHA:99106 |
| Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... |
OMIM:181350 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Paresthesia, Ventricular arrhythmia, Laryngeal dystonia, Irritability, Anx... |
ORPHA:36913 |
| Cardiac Diverticulum |
|
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Pa... |
ORPHA:1686 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Generalized limb muscle atrophy, Prolonged QT interval, Congenital muscular dystrophy, Hypoglycos... |
OMIM:615351 |
| Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
| Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
| Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:217607 |
| Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... |
ORPHA:75565 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation |
OMIM:618052 |
| Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Atrioventricular block, Abnormal hea... |
ORPHA:398124 |
| Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Dystonia, Bradycardia |
OMIM:614654 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Tremor, Ataxia, Unsteady gait, Obesity... |
OMIM:614947 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture |
OMIM:618815 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology, Failure to thrive |
OMIM:618250 |
| Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Aggressive behavior, Abnormal mitochondrial morphology, Choreoathetosis |
OMIM:300438 |
| Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
| Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia, Impaired pain sensation |
OMIM:167400 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Proximal amyotrophy, Atrial fibrillation, Bradycardia, Muscular dystrophy, Arrhythmia |
OMIM:614302 |
| Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
| Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Impaired distal tactile sensation, Steppage gait, Cardiomyopathy, Distal amyotrophy, Impaired dis... |
OMIM:610100 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... |
ORPHA:437572 |
| Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Head tremor, Arrhythmia, Limb dyst... |
OMIM:614860 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
| Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
| Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Myopathy, Cardiomyopathy, Fatty replacement of skeletal muscle |
OMIM:255100 |
| Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Paresthesia, Card... |
ORPHA:466677 |
| Salih Myopathy |
|
Dilated cardiomyopathy, Myopathy, Mitochondrial depletion, Facial palsy, Flexion contracture, Cal... |
OMIM:611705 |
| Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
| Nathalie Syndrome |
|
Abnormal EKG, Skeletal muscle atrophy |
OMIM:255990 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
| Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
| Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly |
|
Premature ventricular contraction |
OMIM:133750 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle atrophy, Trophic limb changes, Orthostatic hypotension, Atrioventricular block, A... |
OMIM:118301 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Facial palsy, Cardiomyopathy, Waddling gait, Scapular winging, Nemaline bodies |
OMIM:617336 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval, Decreased 3-hydroxyac... |
ORPHA:71212 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Large for gestatio... |
ORPHA:45452 |
| Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Dystonia, Prolonged QT interval, Generalized amyotrophy, Ataxia, Diaphrag... |
ORPHA:66634 |
| Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis |
OMIM:617222 |
| Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Mitochondrial malic enzyme reduced, Abnormal echocardiogram, Impaire... |
OMIM:229300 |
| Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... |
ORPHA:85451 |
| Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
| Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Paresthesia, Laryngeal dystonia |
ORPHA:94090 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Ragged-red muscle fibers, Cardiomyopathy, Ataxia, Arrhythmia |
OMIM:530000 |
| Rett Syndrome |
|
Dystonia, Cachexia, Abnormal T-wave, Skeletal muscle atrophy, Prolonged QTc interval, Truncal ata... |
OMIM:312750 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Biventricular hypertrophy, ST segment ... |
OMIM:613243 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Gait disturbance, Dystonia, Ventricular tachycardia, Torsade de poin... |
OMIM:616878 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Ragged-red muscle fibers, Mitral valve prolapse, Impaired distal proprioception, Mitral regurgita... |
OMIM:258450 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level |
OMIM:609016 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy |
OMIM:115195 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy |
OMIM:115196 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Hypertrophic cardiomyopathy |
OMIM:613251 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Generalized amyotrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Abnormal EKG, Low... |
ORPHA:1177 |
| Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Hepatomegaly, Atr... |
ORPHA:1677 |
| Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Necrotizing myopathy, Ventricular tachycardia, Supraventricula... |
ORPHA:423 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse |
OMIM:614676 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... |
ORPHA:563 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Syncope, Bidirectional ventricular ectopy, Prolonged QT interval, Palpitations,... |
OMIM:170390 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Dystonia, Bradycardia |
OMIM:617248 |
| Myopathy, Distal, 4 |
|
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... |
OMIM:614065 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... |
OMIM:615373 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Atrioventricular canal defect, Atrioventricular block, Patent ductus a... |
ORPHA:392 |
| Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial... |
OMIM:619402 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... |
OMIM:115210 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Muscular dystrophy, Arrhythmia, Cardiomyopathy |
OMIM:612999 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Gait imbalance, Skeletal muscle atrophy, Weakness of facial musculature, Limb muscle weakness, Ca... |
ORPHA:329336 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... |
ORPHA:99103 |
| Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Paresthesia, Laryngeal dystonia, Irritability, Anxiety, Depression |
ORPHA:94089 |
| Long-Thumb Brachydactyly Syndrome |
|
Arrhythmia |
OMIM:112430 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... |
ORPHA:3208 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Gener... |
ORPHA:352447 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... |
ORPHA:457050 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Gait disturbance, Myopathy, Slender build, Decreased mitochondrial number, Difficulty walking, Mu... |
ORPHA:352470 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Myopathy, Hand muscle weakness, Ragged-red muscle fibers, Paresthesia, Shuffling gait, Bradykines... |
ORPHA:254886 |
| Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... |
ORPHA:330001 |
| Endocardial Fibroelastosis |
|
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy |
OMIM:226000 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... |
OMIM:613838 |
| Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Cardiomyopathy, Distal amyotrophy, ... |
ORPHA:98911 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Prolonged QT interval, Atrial fibrillation, Skeletal muscle hypertrophy, Failure to... |
OMIM:613327 |
| Heart-Hand Syndrome Type 3 |
|
Sick sinus syndrome, Bundle branch block |
ORPHA:1342 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Autophagic vacuoles, Facial diplegia, Cardiomyopathy, EMG: myopathic abnormalities, Difficulty wa... |
ORPHA:399058 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Patent foramen ovale, Prolonged PR interval, Sick sinus s... |
ORPHA:542306 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Dystonia, Limb hypertonia, Chorea, Resting tremor, Congestive heart failu... |
OMIM:606703 |
| Lipoyltransferase 1 Deficiency |
|
Dystonia, Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Lyme Disease |
|
Atrioventricular block, Paresthesia, Arrhythmia |
ORPHA:91546 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Dystonia, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle ti... |
OMIM:252011 |
| Ogden Syndrome |
|
Premature ventricular contraction, Ventricular septal defect, Ventricular tachycardia, Supraventr... |
OMIM:300855 |
| Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Spastic gait, Impaired vibration sensation in the lower limbs, Abnormal... |
ORPHA:99013 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Atrioventr... |
ORPHA:137675 |
| Symmetrical Thalamic Calcifications |
|
Failure to thrive, Ataxia, Arrhythmia |
ORPHA:1314 |
| Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Muscular dystrophy, Waddling gait, Congestive heart failu... |
OMIM:310200 |
| Familial Hyperaldosteronism Type Iii |
|
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Left ventricular hypertr... |
ORPHA:251274 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Bradycardia, Cardiomyopathy, Con... |
OMIM:261740 |
| Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Reduced ejection fraction, Right ventricular hypertrophy... |
ORPHA:268 |
| Cardiomyopathy, Dilated, 1J |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... |
OMIM:605362 |
| Coronary Arterial Fistula |
|
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal EKG, Aortic valve stenosis, Ab... |
ORPHA:2041 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles |
OMIM:609500 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia, Camptodactyly |
OMIM:618453 |
| Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Bradycardia, Lethargy |
ORPHA:95717 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Congestive heart... |
OMIM:602390 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achilles tendon con... |
ORPHA:254361 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Dystonia, Prolonged QT interval, Acute rhabdomyolysis, EMG: myopathic abnormalities, Ataxia, Abno... |
ORPHA:480864 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Scapular winging, Muscular dystrophy, Arrhythmia, Shoulder girdle muscle weakness |
OMIM:310095 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Failure to thrive, Low-output congestive heart failure, Ab... |
ORPHA:91130 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... |
ORPHA:90065 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Flexion contracture |
OMIM:614498 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Unsteady gait, Ataxia, Skeletal muscle atrophy, Right bundle branch block |
OMIM:616479 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Quadriceps muscle weakness, Anxiety, Lethargy, Ga... |
ORPHA:254892 |
| Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Dystonia, Ventricular septal defect, Decreased activity of the pyruv... |
ORPHA:255241 |
| Gitelman Syndrome |
|
Prolonged QT interval, Paresthesia, Palpitations, Ventricular tachycardia, Failure to thrive, Ata... |
OMIM:263800 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy, Distal sensory impairment, Nem... |
OMIM:606842 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Failure to thrive, Facial palsy, Cardiomyopathy, Flexion contracture, Lethargy |
OMIM:201470 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Opisthotonus, Failure to thrive, Pulmonary arterial hypertension, Bradyc... |
OMIM:619272 |
| Developmental And Epileptic Encephalopathy 35 |
|
Irritability, Cardiomyopathy, Limb tremor |
OMIM:616647 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Dystonia, Small for gestational age, Failure to thrive, Arrhythmia |
OMIM:614702 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure |
OMIM:613255 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Skeletal muscle atrophy, Distal sensory impairment, Arrhythmia, Hand muscle atr... |
ORPHA:99944 |
| Ethylene Glycol Poisoning |
|
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Facial palsy, Tachycardia, Eupho... |
ORPHA:31826 |
| Myopathy, Distal, 1 |
|
Dilated cardiomyopathy, Gait disturbance, Toe extensor amyotrophy, Ragged-red muscle fibers, Faci... |
OMIM:160500 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Right bundle branch block |
OMIM:613158 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... |
OMIM:613873 |
| Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Prolonged QT interval, Palpitations, Weight loss, Increased int... |
ORPHA:79102 |
| Myotonic Dystrophy 1 |
|
First degree atrioventricular block, Facial diplegia, Atrial flutter, Atrial fibrillation |
OMIM:160900 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Arrhythmia, Cardiomyopathy |
OMIM:616198 |
| Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Type 1 muscle fiber predominance, Increased muscle lipid content... |
ORPHA:171439 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
| Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
| Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation |
OMIM:613874 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Levotransposition of the great arteries, Patent ductus arterios... |
ORPHA:860 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Myopathy, Cachexia, Skeletal muscle atrophy, Congestive heart failure, Flexion ... |
ORPHA:157973 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricular hypertro... |
ORPHA:369929 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... |
ORPHA:206546 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Ataxia, Congestive heart failure, Arrhythmia |
ORPHA:225 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
| Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Concentric hypertrophic cardiomyopathy, Mitochondrial malic enzyme reduced, Abnormal echocardiogr... |
OMIM:302900 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Cardiomyopathy, Muscular dystrophy, Difficulty walking, Flexion contracture, Limb-girdle muscle w... |
OMIM:609308 |
| Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility |
OMIM:607482 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Weight loss, Bradycardia, Anxiety, Dysesthesia, Depression |
ORPHA:221098 |
| Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Gait disturbance, Dystonia, Skeletal muscle atrophy, Dysmetria, Trem... |
ORPHA:96 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Apathy, Generalized amyotrophy, Progressive cerebellar ataxia, Abnormal mitochondrial morphology,... |
ORPHA:275872 |
| Fabry Disease |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Mitral regurgitation,... |
ORPHA:324 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Failure to thrive, Congestive heart failure |
OMIM:618234 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired proprioception, Mitochondrial hypertrophy, Fiber type grouping, Decreased activity of mi... |
OMIM:500013 |
| Refsum Disease, Classic |
|
Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Ataxia, Congestive heart failure, Arrhythmia,... |
OMIM:266500 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Myopathy, Failure to thrive, Cardiomyopathy, Lethargy |
ORPHA:26792 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Macroglossia, Facial palsy, Cardiomyopathy, Congenital muscular dystrophy, Muscular dystrophy, In... |
OMIM:613155 |
| Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Abnormal muscle fiber morp... |
ORPHA:732 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... |
ORPHA:3077 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder gir... |
ORPHA:34515 |
| Mcleod Syndrome |
|
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy, Hepatosplenomegaly, Person... |
OMIM:300842 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Third degree atrioventricular block, Conotruncal defect, Bradycardia |
ORPHA:40366 |
| Sarcosinemia |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ataxia, Emotional lability, Peroneal muscle weakness |
ORPHA:3129 |
| Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... |
OMIM:615248 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... |
OMIM:540000 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Gait disturbance, Muscular dystrophy, Arrhythmia, Elbow flexion contracture |
OMIM:616516 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Failure to thrive, Endocardial fibroelastosi... |
OMIM:212140 |
| Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death |
OMIM:613172 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Myopathy, Increased muscle lipid content, Cardiomyopathy, Difficulty walking |
OMIM:610717 |
| Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Dystonia, Difficulty walking |
OMIM:618222 |
| Coproporphyria, Hereditary |
|
Hypertension, Hepatomegaly, Tachycardia, Splenomegaly, Anxiety, Depression |
OMIM:121300 |
| Trimethylaminuria |
|
Hypertension, Depression, Tachycardia, Splenomegaly |
OMIM:602079 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... |
OMIM:604286 |
| Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis, Pericardial effusion |
ORPHA:231111 |
| Myopathy, Myofibrillar, 2 |
|
Hypertrophic cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystroph... |
OMIM:608810 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cardiomyopa... |
ORPHA:86812 |
| Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Dystonia, Limb hypertonia, Chorea, Resting tremor, Congestive heart failu... |
ORPHA:324588 |
| Myopathy, Myofibrillar, 6 |
|
Hypertrophic cardiomyopathy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee flexion c... |
OMIM:612954 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity, Hypomimic face |
OMIM:608443 |
| Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Palpitations, Calf muscle hypoplasia, EMG: myopathic abno... |
ORPHA:488650 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Cardiomyopathy, Ventricular hypertrophy, Atrial fibrillation |
OMIM:613690 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... |
ORPHA:1345 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy,... |
OMIM:612937 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Chorea, Bradykinesia, Ataxia, Lethargy |
OMIM:618683 |
| Mucopolysaccharidosis Type 3 |
|
Gait disturbance, Hepatomegaly, Reduced ejection fraction, Abnormal mitral valve morphology, Loss... |
ORPHA:581 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Right ventricular hy... |
ORPHA:444013 |
| Infantile Refsum Disease |
|
Hepatomegaly, Failure to thrive, Facial palsy, Cardiomyopathy, Ataxia, Arrhythmia |
ORPHA:772 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance |
ORPHA:34587 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
| Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Bradykinesia, EMG: myopathic ab... |
ORPHA:171442 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Ataxia, Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
| Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... |
ORPHA:90068 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Paresthesia, Obesity, Laryngeal dystonia, Irritability, Anxiet... |
ORPHA:79444 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, A... |
ORPHA:42 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Cerebral ischemia, Patent ductus arteriosus... |
ORPHA:1880 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Abnormal heart morph... |
ORPHA:70472 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Ataxia, Decreased activity of ... |
OMIM:614299 |
| Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Gait disturbance, Abnormal mitochondria in muscle tissue, Proximal muscle... |
ORPHA:59135 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613876 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Hepatomegaly, Bradycardia, Patent ductus arteriosus, Lethargy |
OMIM:617397 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Abnormal cardiac ventricular function, Hepatomegaly, Failure to thrive, Cardiomyopathy, Ataxia, D... |
ORPHA:2394 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:616051 |
| 17Q24.2 Microdeletion Syndrome |
|
Mood swings, Patent ductus arteriosus after birth at term, Failure to thrive in infancy, Prolonge... |
ORPHA:529962 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Triceps weakness, Weakness of facial musculature, Facial diplegia, Brady... |
ORPHA:70 |
| Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Dystonia, Myopathy, Failure to thrive, Irritability, Flexion contrac... |
OMIM:618237 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Failure to thrive |
OMIM:615440 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Decreased plasma carnitine |
OMIM:611283 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Failure to thrive |
OMIM:617228 |
| Dpagt1-Cdg |
|
Hepatomegaly, Intracranial hemorrhage, Prolonged QT interval, Failure to thrive, Aggressive behav... |
ORPHA:86309 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Mitral valve prolapse, Lower limb amyotrophy, Generalized amyot... |
ORPHA:171881 |
| Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy |
ORPHA:391673 |
| Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Abnormal... |
ORPHA:439 |
| Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Aggressive behavior, Subvalvular aortic stenosis, Hyperactivity, Obesity... |
OMIM:600430 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Large for gestatio... |
ORPHA:276556 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Atrioventr... |
ORPHA:371428 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... |
OMIM:255160 |
| Heart Block, Congenital |
|
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... |
OMIM:234700 |
| Glutamine Deficiency, Congenital |
|
Bradycardia, Flexion contracture, Camptodactyly |
OMIM:610015 |
| Gitelman Syndrome |
|
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Pericardial effusion, Paresthe... |
ORPHA:358 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
| Friedreich Ataxia And Congenital Glaucoma |
|
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Mit... |
OMIM:229310 |
| Illum Syndrome |
|
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia |
OMIM:208155 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Bradycardia, Large for gestational age |
ORPHA:226313 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... |
OMIM:613426 |
| Pseudohypoparathyroidism Type 1A |
|
Hypertension, Calcinosis, Prolonged QT interval, Paresthesia, Choreoathetosis, Obesity, Laryngeal... |
ORPHA:79443 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
| Amoebiasis Due To Free-Living Amoebae |
|
Facial palsy, Ataxia, Myocardial necrosis, Irritability, Arrhythmia, Lethargy |
ORPHA:68 |
| Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Bradycardia, Lethargy |
ORPHA:95716 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... |
OMIM:108900 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Small for gestation... |
OMIM:618775 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Myopathy, Decreased plasma free carnitine, Ventricular hypertrophy, Cardiomyopathy,... |
ORPHA:228305 |
| Friedreich Ataxia 2 |
|
Concentric hypertrophic cardiomyopathy, Mitochondrial malic enzyme reduced, Abnormal echocardiogr... |
OMIM:601992 |
| Wild Type Abeta2M Amyloidosis |
|
Paresthesia, Macroglossia, Gastrointestinal hemorrhage, Congestive heart failure, Dysesthesia, Ab... |
ORPHA:85446 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Gait disturbance, Limb muscle weakness, Dysesthesia, Cardiomegaly, Cardiomyopathy, Ataxia, Conges... |
OMIM:619259 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Syncope, Congestive heart failure |
OMIM:613694 |
| Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Syncope, Congestive heart failure |
OMIM:613697 |
| Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:606685 |
| Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... |
ORPHA:439232 |
| African Trypanosomiasis |
|
Myocarditis, Impaired proprioception, Third degree atrioventricular block, Paresthesia, Apathy, S... |
ORPHA:3385 |
| Tetanus |
|
Hypertension, Opisthotonus, Bradycardia, Tachycardia, Tremor |
ORPHA:3299 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Palpitations, Weight loss, Tremor, Congestive heart failure, Panic attack, H... |
ORPHA:94080 |
| Propionic Acidemia |
|
Hepatomegaly, Arrhythmia, Cardiomyopathy |
ORPHA:35 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Large for gestatio... |
ORPHA:276575 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Ataxia, Atrial septal defect, ... |
OMIM:249270 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex |
OMIM:614053 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Decreased activity of mitochondrial compl... |
OMIM:616501 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Rhabdomyolysis, Irritability, De... |
ORPHA:159 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Cardiomyopathy |
OMIM:615352 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Large for gestatio... |
ORPHA:276580 |
| Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... |
ORPHA:34217 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopath... |
OMIM:619424 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Lethargy |
OMIM:618228 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypertrophic cardiomyopathy, Dystonia, Abnormal mitochondrial shape, Ragged-red muscle fibers, Sk... |
ORPHA:17 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Systolic h... |
ORPHA:99104 |
| Stiff-Person Syndrome |
|
Hypertension, Opisthotonus, Agoraphobia, Asymmetric limb muscle stiffness, Proximal limb muscle s... |
OMIM:184850 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Decreased activit... |
OMIM:615418 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Prolonged QT interval, ST segment depression, Abnormal pulse pressure, Ataxia, R... |
ORPHA:466650 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, Ca... |
OMIM:201475 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, EMG: myopathic abnormalities, Cardiomyopathy, Muscle fiber splitting, Myofib... |
OMIM:609452 |
| Nemaline Myopathy 3 |
|
Dilated cardiomyopathy, Limb muscle weakness, Slender build, Facial palsy, Arthrogryposis multipl... |
OMIM:161800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy |
OMIM:618235 |
| Dpm3-Cdg |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Calf ... |
ORPHA:263494 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertension, Gait disturbance, Hypertrophic cardiomyopathy, Ragged-red m... |
ORPHA:1349 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Gait disturbance, Truncal obesity, Arrhythmia, Camptodactyly of finger |
ORPHA:2928 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... |
OMIM:609040 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Arrhythmia |
OMIM:615084 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
| Cyclic Vomiting Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Cardiomyopathy, Lethargy |
OMIM:500007 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dystonia, Hepatomegaly, Ataxia, Lethargy |
OMIM:246900 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Gait disturbance, Ataxia, Arrhythmia |
ORPHA:29822 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Panic attack, Axial dystonia, Writer's cramp, Torticollis, Neck muscle hypertrophy, Head tremor, ... |
ORPHA:420492 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy |
OMIM:615119 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Cardiomyopathy, Flexion contracture, Splenomegaly |
OMIM:608540 |
| Neuroleptic Malignant Syndrome |
|
Hypertension, Chorea, Hypertensive crisis, Tachycardia, Bradycardia, Tremor, Pulmonary embolism, ... |
ORPHA:94093 |
| Typhoid |
|
Hepatomegaly, Epistaxis, Splenomegaly, Tremor, Ataxia, Gastrointestinal hemorrhage, Cardiac arres... |
ORPHA:99745 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Dilated cardiomyopathy, Triangular tongue, Skeletal muscle atrophy, Macroglossia, Muscular dystro... |
OMIM:616827 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Paroxysmal atrial tachycardia, Paresthesia, Atrial septal defect, Card... |
ORPHA:49827 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy... |
OMIM:602541 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Abnormal left ventricle morphology, Congestive heart failur... |
ORPHA:1055 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Dysmetria, Ataxia, Broad-based gait, Abnormal left ventricular function, Arrhythmia |
OMIM:618098 |
| Atrioventricular Septal Defect 3 |
|
Hypertension, Primum atrial septal defect, Atrioventricular canal defect, Pulmonary arterial hype... |
OMIM:600309 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Limb hypertonia, Bradycardia, Loss of ability to walk, Tip-toe gait, Congenital foot contractures... |
ORPHA:565624 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle atrophy, Sudden cardiac death, Arrhyth... |
ORPHA:156 |
| Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Lethargy |
ORPHA:254857 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Gaucher Disease Type 2 |
|
Dystonia, Hepatomegaly, Splenomegaly, Cardiac arrest, Flexion contracture |
ORPHA:77260 |
| Pediatric-Onset Graves Disease |
|
Mood swings, Hypertension, Hepatomegaly, Atrial fibrillation, Palpitations, Failure to thrive, Sp... |
ORPHA:525731 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia, Skeletal muscle atrophy |
OMIM:613402 |
| Encephalitis Lethargica |
|
Tremor, Upper limb muscle weakness, Bradycardia, Lethargy |
ORPHA:83600 |
| Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal cardiac ventricle morphology, Abnormal P wave, Hepatomegaly... |
ORPHA:85443 |
| Refsum Disease |
|
Skeletal muscle atrophy, Cardiomyopathy, Heart block, Splenomegaly, Ataxia |
ORPHA:773 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Ventricular septal defect, Arrhythmia, Patent ductus arteriosus |
OMIM:617021 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myopathy, Palpitations, Decreased activity of mitochondrial complex III, Increased intramyocellul... |
OMIM:255125 |
| Juvenile Huntington Disease |
|
Dystonia, Chorea, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia... |
ORPHA:248111 |
| Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Waddling gait, Broad-based gait, Increas... |
ORPHA:119 |
| Ebstein Anomaly |
|
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Ebstein anomaly of the tricusp... |
OMIM:224700 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Decreased muscle mass, Hepatomegaly, Elevated jugular venous pressure, Weight loss, Cardiomegaly,... |
ORPHA:465508 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Inability to walk |
OMIM:617184 |
| Recessive Mitochondrial Ataxia Syndrome |
|
Gait disturbance, Dysmetria, Positive Romberg sign, Limb dysmetria, Ataxia, Impaired vibratory se... |
ORPHA:94125 |
| Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Failure to thrive, Aggressive behavior, Hyperactivity, Anxiety, Gait a... |
OMIM:609425 |
| Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300718 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... |
OMIM:108800 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Arrhythmia, Cardiomyopathy |
OMIM:606069 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
| Rheumatic Fever |
|
Myocarditis, Gait disturbance, Aplasia/Hypoplasia of the abdominal wall musculature, Pericarditis... |
ORPHA:3099 |
| Fixed Subaortic Stenosis |
|
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... |
ORPHA:3092 |
| Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Dysplastic aortic valve, Endocarditi... |
ORPHA:3093 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:614096 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Mitral regurgitation, Skeletal myopathy, Cardiomyopathy, Tricuspid ... |
ORPHA:746 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction |
OMIM:618189 |
| Dk1-Cdg |
|
Dilated cardiomyopathy, Failure to thrive, Cardiomyocyte hypertrophy, Interstitial cardiac fibros... |
ORPHA:91131 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Hepatomegaly, Choreoathetosis, Failure to thrive, Cardiomyopathy, Splenomegaly, Lethargy |
ORPHA:79312 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Atrioventricular block, Arrhythmia |
ORPHA:93317 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Arrhythmia |
OMIM:616949 |
| Alternating Hemiplegia Of Childhood |
|
Dystonia, Abnormal T-wave, Cardiac conduction abnormality, Choreoathetosis, Chorea, Aggressive be... |
ORPHA:2131 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
| Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Cardiomyopathy, Waddling gait, Calf muscle hypertrophy, Flexion contracture |
ORPHA:98896 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Hepatomegaly, Small for gestational age, Palpitations, Tachycardia, Large for gestationa... |
ORPHA:324575 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Tachycardia, Increased body weight, Lethargy |
ORPHA:276608 |
| Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal endoc... |
ORPHA:500 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Myopathy, Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy |
OMIM:232400 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Failure to thrive, Bradycardia, Attention deficit hyperactivity disorder, Depressio... |
ORPHA:90674 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Dystonia, Skeletal muscle atrophy, Small for gestational age, Choreo... |
OMIM:615471 |
| Leber Optic Atrophy |
|
Postural tremor, Dystonia, Myopathy, Ataxia, Arrhythmia |
OMIM:535000 |
| 16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Failure to thrive, Abnormal heart morphology, Abnormal tricuspid valve morphology, ... |
ORPHA:485405 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... |
OMIM:600996 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Tachycardia, Flexion contracture |
OMIM:614653 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Contractures of the large joints, Broad-based gait, Sinus tachycardia, Skeletal muscle atrophy |
OMIM:616716 |
| Melas |
|
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Gait... |
ORPHA:550 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest |
OMIM:614916 |
| Brugada Syndrome 4 |
|
Syncope, Shortened QT interval, Atrial fibrillation |
OMIM:611876 |
| Hemochromatosis, Type 1 |
|
Telangiectasia, Hepatomegaly, Azoospermia, Cardiomegaly, Cardiomyopathy, Splenomegaly, Congestive... |
OMIM:235200 |
| Juvenile Dermatomyositis |
|
Calcinosis, Pericarditis, Myositis, Weight loss, Telangiectasia of the skin, Cardiomyopathy, Bund... |
ORPHA:93672 |
| Friedreich Ataxia |
|
Impaired proprioception, Dystonia, Gait imbalance, Impaired visually enhanced vestibulo-ocular re... |
ORPHA:95 |
| Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618229 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:613881 |
| Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:611880 |
| Bohring-Opitz Syndrome |
|
Happy demeanor, Facial hypotonia, Bradycardia, Cardiomegaly, Inability to walk, Severe failure to... |
ORPHA:97297 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Dystonia, Hepatomegaly, Mitral regurgitation, Left ventricular systolic d... |
OMIM:619167 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Cardiomyopathy, Decreased activity of mitochondrial complex I |
OMIM:619003 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy |
OMIM:605676 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal heart morphology, Tachycardia, Loss of ability to walk, Emotional lability, Anxiety, Dep... |
ORPHA:79264 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Cardiomyopathy |
ORPHA:67048 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Hypertrophic cardiomyopathy, Hepatomegaly, Abnormal aortic valve morphology, Congestive heart fai... |
ORPHA:1194 |
| Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Aggressive behavior, Ataxia |
OMIM:300983 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Mitral regurgitation, Marked muscular hypertrophy, Ventricular hypertrophy, Joint contracture of ... |
OMIM:300280 |
| Peroxisome Biogenesis Disorder 9B |
|
Ataxia, Cardiomyopathy |
OMIM:614879 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Myopathy, Small for gestational age, Failure to thrive, Congestive heart ... |
OMIM:609015 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Ventricular tachycardia, Failure to thrive, Cardiac arrest, Ventricular f... |
OMIM:300952 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
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Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis |
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