Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... |
OMIM:115210 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul... |
OMIM:612201 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... |
OMIM:611880 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Cardiomyopathy, Dilated, 1W |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:613122 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... |
OMIM:615248 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
OMIM:614676 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... |
OMIM:609200 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... |
OMIM:613697 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:613286 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:615235 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... |
OMIM:604765 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Calf muscle hypertrophy, Absent muscle dystrophin expression, Elbow flexion contracture, Left ven... |
ORPHA:206546 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... |
OMIM:613874 |
Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Syncope, Angina pectoris, Right ventricular failure, Right ventr... |
OMIM:265400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal au... |
ORPHA:85451 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Myopathy, Myofibrillar, 1 |
|
Third degree atrioventricular block, Restrictive cardiomyopathy, Dilated cardiomyopathy, EMG: myo... |
OMIM:601419 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... |
OMIM:619402 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... |
ORPHA:353 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi... |
ORPHA:63273 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... |
OMIM:610476 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Myopathy, Distal, 4 |
|
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal... |
OMIM:614065 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
Gne Myopathy |
|
Tibialis muscle weakness, Hypothyroidism, Cardiomyopathy, Increased variability in muscle fiber d... |
ORPHA:602 |
Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... |
OMIM:619040 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... |
OMIM:613690 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles |
OMIM:609500 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Optic atrophy, Supraventricular arrhythmia, Diabetes mellitus, Leg muscle stiffness, Distal lower... |
ORPHA:320360 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens... |
OMIM:540000 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... |
ORPHA:860 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Hepatomegaly, Br... |
OMIM:619048 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... |
OMIM:614022 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616276 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Atrioventricular block, Arrhythmia, Cardiomegaly, C... |
ORPHA:85447 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Myofiber disarray, Fatty replacement of skeletal ... |
OMIM:301075 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... |
OMIM:616201 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... |
ORPHA:99095 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Generalized amyotrophy, Mitral valve prolapse,... |
ORPHA:324604 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
Atrial Standstill 1 |
|
Endocardial fibroelastosis, Atrial standstill, Premature atrial contractions, Atrial cardiomyopat... |
OMIM:108770 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism, Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Weakness of th... |
ORPHA:98912 |
Pituitary Adenoma 1, Multiple Types |
|
Increased circulating prolactin concentration, Left ventricular hypertrophy, Hypertension, Pituit... |
OMIM:102200 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... |
ORPHA:563 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric... |
ORPHA:444013 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... |
OMIM:611615 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradyca... |
OMIM:618815 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... |
OMIM:612124 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Anxiety, Cardiomyopathy |
OMIM:619651 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... |
ORPHA:1329 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... |
ORPHA:399103 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation, Atrial septal defect |
OMIM:613087 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy |
OMIM:255100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Skeletal myopathy, Left ventricular hypertrophy, Noncompaction cardiomy... |
ORPHA:3208 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... |
OMIM:618782 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Cardiomyopathy |
OMIM:610100 |
Distal Myotilinopathy |
|
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal... |
ORPHA:98911 |
Cln3 Disease |
|
Aggressive behavior, Optic atrophy, T-wave inversion, Left ventricular hypertrophy, Depression, A... |
ORPHA:228346 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Premature ventricular contr... |
OMIM:212138 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism, Cardiomyopathy |
OMIM:619647 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Hypogonadism, EMG: myopathic abnormalities, Ragged-red muscle fibers, Diabetes mellitus, Limb mus... |
OMIM:609286 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges... |
OMIM:600858 |
Timothy Syndrome |
|
Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Prolonged QT interval, Cardiomeg... |
OMIM:601005 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy |
OMIM:618235 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Left ventricular hypertrophy |
OMIM:614654 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormali... |
OMIM:615418 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventricular hypertro... |
OMIM:613156 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert... |
OMIM:604286 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge... |
ORPHA:275766 |
Developmental And Epileptic Encephalopathy 35 |
|
Irritability, Cardiomyopathy |
OMIM:616647 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Abnormal autonomic nervous sy... |
ORPHA:330001 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Calf muscle ... |
ORPHA:268 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Cardiomyopathy |
OMIM:609308 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Internal hemor... |
ORPHA:335 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Congestive heart failure, Cardiomyopathy |
OMIM:616198 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Flexion contracture, Ventricular septal defect, Interphalangeal thumb joint contracture, Abnormal... |
OMIM:613870 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia |
OMIM:614702 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
Bronchopulmonary Dysplasia |
|
Right ventricular failure, Right ventricular hypertrophy |
ORPHA:70589 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial hypertension, Telangiectasia, Hypertension, Increased pulmonary vascular resis... |
OMIM:178600 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Anterior hypopituitarism, Congestive heart failure, Cryptorchidism, E... |
ORPHA:2022 |
Congenital Aortic Valve Stenosis |
|
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... |
ORPHA:3093 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... |
OMIM:300696 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Hypothyroidism, Right bundle branch block, Decreased muscle mass, T-wave... |
ORPHA:263297 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... |
OMIM:115195 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Hypertension |
OMIM:616733 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol... |
OMIM:619566 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Fabry Disease |
|
Transient ischemic attack, Abnormal autonomic nervous system physiology, Left ventricular hypertr... |
OMIM:301500 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... |
OMIM:615745 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Left ventricular hypertrophy |
OMIM:618632 |
Pituitary Gigantism |
|
Increased circulating prolactin concentration, Type II diabetes mellitus, Left ventricular hypert... |
ORPHA:99725 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Left ventricular hypertrophy, Atrial septal defect, Hypertrophic cardi... |
OMIM:615355 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... |
ORPHA:206549 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... |
ORPHA:99106 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Intracranial... |
ORPHA:251274 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Endocardial fibrosis |
OMIM:607685 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, Distal lower limb musc... |
OMIM:619903 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Cardiomyopathy, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, First degree... |
OMIM:617336 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy,... |
OMIM:609452 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom... |
OMIM:615352 |
Riboflavin Transporter Deficiency |
|
Diabetes insipidus, Aggressive behavior, Hypogonadism, Abnormal autonomic nervous system physiolo... |
ORPHA:97229 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
Variant Abeta2M Amyloidosis |
|
Abnormal skeletal muscle morphology, Reduced left ventricular ejection fraction, Abnormal autonom... |
ORPHA:314652 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... |
ORPHA:216694 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Left ventricula... |
ORPHA:90065 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... |
ORPHA:34515 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Sarcosinemia |
|
Optic atrophy, Emotional lability, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmoni... |
ORPHA:3129 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Limb-girdle muscle weakness, Centrally nucleated... |
OMIM:255160 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... |
OMIM:614096 |
Megabladder, Congenital |
|
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... |
OMIM:618719 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Pulmonic stenosis, Right ventricular hyper... |
OMIM:616028 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hyperaldosteronism, Ventricular septal ... |
ORPHA:369929 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cardiomyopathy, Optic atrophy, Abnormal EKG, Generalized amyotrophy, Lower limb muscle weakness, ... |
ORPHA:1177 |
Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Myocardial infarction, Hepatomegaly, Distal amyotr... |
OMIM:205400 |
Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Myopathy, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy |
OMIM:610717 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Macroglos... |
OMIM:616827 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Left ventricular h... |
ORPHA:746 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... |
OMIM:614954 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Decreased circu... |
OMIM:615474 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... |
OMIM:619424 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Abnormal autonomic nervous sy... |
OMIM:105210 |
Hemochromatosis, Type 2A |
|
Congestive heart failure, Dilated cardiomyopathy, Hepatomegaly, Arrhythmia, Hypogonadotropic hypo... |
OMIM:602390 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Optic atrophy, Hypertrophic cardiomyopathy, Myopathy, Irritability |
OMIM:618237 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl... |
ORPHA:206559 |
Propionic Acidemia |
|
Cardiomyopathy, Hepatomegaly, Arrhythmia |
ORPHA:35 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Hypogonadism, Hepatomegaly, Joint contracture, Splenomegaly, Cardiomyopathy |
OMIM:608540 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... |
ORPHA:542306 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, T-wave inversion, Enlarged kidney, ST segment depression, Cong... |
OMIM:261740 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy, Optic atrophy |
OMIM:618236 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
Distal Myopathy, Tateyama Type |
|
Increased variability in muscle fiber diameter, Percussion-induced rapid rolling muscle contracti... |
ORPHA:488650 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Cardiomyopathy |
OMIM:105120 |
Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Optic atrophy, Atrial septal defect, Right ventr... |
OMIM:614261 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Musc... |
OMIM:300718 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, EMG: myopathic abno... |
OMIM:608358 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy, Increased circulating procalcitonin concentration |
ORPHA:363549 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Macroglos... |
ORPHA:308552 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... |
OMIM:618775 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Al Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal autonomic nervous system physi... |
ORPHA:85443 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus... |
OMIM:612937 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
Multiple System Atrophy, Parkinsonian Type |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
ORPHA:98933 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... |
OMIM:115000 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:98855 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital musc... |
OMIM:613155 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary window, Truncus... |
ORPHA:2299 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Fatty replacement of skeletal muscle, Weakness of the intrinsic hand muscles, EMG: myopathic abno... |
ORPHA:329478 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Myopathy |
ORPHA:91130 |
Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, A... |
ORPHA:225 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Abnormal auton... |
ORPHA:101016 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618228 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy, Congestive heart failure |
OMIM:605676 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Myotonia, Hypertrop... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Myotonia, Hypertrop... |
ORPHA:98853 |
Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... |
OMIM:608810 |
Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Flexion contracture, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodi... |
ORPHA:171433 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myopathy, Frontalis ... |
OMIM:300580 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Irritability, Left ventricular hypertrophy, Optic atrophy |
ORPHA:401866 |
Hemochromatosis, Type 2B |
|
Hypogonadism, Congestive heart failure, Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:613313 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Cardiomyopathy |
OMIM:615119 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Optic atrophy, Atrial septal defect, Diabetes mellitus, Situs inversus... |
OMIM:249270 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Atrial septal defect, Hepatosplenomegaly, Situs inversus totalis, Bile duct pro... |
OMIM:267010 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hypothyroidism, Ventricular arrhythmia, Facial diplegia, Palpitations, Facial palsy, Left ventric... |
ORPHA:254892 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Hepatomegaly, Pulmonic stenosis, Tricuspid r... |
OMIM:619433 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618229 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension, Abnormal autonomic nervous system physiology |
OMIM:156310 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Myopathy, Hepatomegaly, Distal amyotrophy, Cardiomyopathy |
OMIM:232400 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Optic atrophy, Cardiomyopathy |
ORPHA:26792 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Cardiomyopathy |
OMIM:613752 |
Fabry Disease |
|
Achalasia, Optic atrophy, Angina pectoris, Hypertrophic cardiomyopathy, Diabetes insipidus, Trans... |
ORPHA:324 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:98863 |
Idiopathic Congenital Hypothyroidism |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95717 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, ... |
ORPHA:93476 |
Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Right ventricular outlet tract obstruct... |
ORPHA:99094 |
Multiple System Atrophy, Cerebellar Type |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
ORPHA:227510 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Right ventricular hypertrophy |
ORPHA:217563 |
Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... |
OMIM:615770 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Third degree atrioventricular block, Conotruncal defect, Hypoplasi... |
ORPHA:40366 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy |
OMIM:619492 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cardiomyopathy, Muscle fiber atrophy, Optic atrophy, Myopathy, Depression, Scapular winging, Ragg... |
ORPHA:254886 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Cryp... |
OMIM:620135 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Concentric hypertrophic cardiomyopathy, Anxiety |
OMIM:204200 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Aggressive behavior, Left ventricular hypertrophy, Dilated cardiomyopathy, Irritability, Tachycardia |
OMIM:618321 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia |
ORPHA:324588 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, ... |
OMIM:618234 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Left ventric... |
ORPHA:169186 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Optic atrophy, Diaphragmatic eventration, Decreased testicular size, Dilate... |
OMIM:610198 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Syncope, Type I diabetes mellitus, Hyperinsulinemic hypoglycemia, Diffuse pancr... |
ORPHA:276575 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Cardiomyopathy |
OMIM:520000 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Abnormal autonomic nervous system physiology, Hyperinsulinemia, Postural hypotension... |
ORPHA:369873 |
Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Cardiomyopathy |
ORPHA:98896 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Proximal amyotrophy, Increased circulating cortisol level, Type II diabetes mellitus, Decreased c... |
ORPHA:189439 |
Hemochromatosis, Type 4 |
|
Arrhythmia, Diabetes mellitus, Hepatomegaly, Cardiomyopathy |
OMIM:606069 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Limb hypertonia, Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia, Joint ... |
OMIM:614498 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:3222 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Camptodactyly of toe, Hypertrophic cardio... |
OMIM:300280 |
Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, EMG: myopathic abnormalities... |
ORPHA:171439 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Cardiomyopathy, Weakness of facial musculature, Skeletal muscle atrophy, Limb muscle weakness, Ab... |
ORPHA:329336 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Optic... |
ORPHA:401768 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Emotional lability, Diab... |
OMIM:615830 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Optic atrophy, Abnormal mitochondria in muscle tissue, Dilated cardiomyopath... |
OMIM:252011 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Syncope, Maternal diabetes, Type I diabetes mellitus, Hyperinsulinemic hypoglyc... |
ORPHA:276580 |
Synaptic Congenital Myasthenic Syndromes |
|
Pulmonary arterial hypertension, Type 1 muscle fiber predominance, Myopathy, Skeletal muscle atro... |
ORPHA:98915 |
Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... |
ORPHA:3384 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Optic disc pallor, Optic atrophy |
OMIM:612989 |
Bardet-Biedl Syndrome 2 |
|
Hypogonadism, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect, Diabetes mellitus |
OMIM:615981 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypertrophic cardio... |
ORPHA:276556 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Optic atrophy, Pericardial effusion, Left ventricular hypertrophy, Hypertension, ... |
OMIM:619487 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Myopathy, Facial palsy |
OMIM:602541 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:212350 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Type 1 muscle fibe... |
OMIM:612949 |
Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Generalized amyotrop... |
OMIM:612954 |
Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy |
ORPHA:67048 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... |
ORPHA:75249 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Pulmonary insufficiency, Mitral valve prolapse, Left ventricular hypertrophy, Atrial septal defec... |
ORPHA:230851 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology, Depression, Anxiety |
ORPHA:398147 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... |
ORPHA:320 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Nephrogenic diabetes insipidus, Hepatomegaly, Right ventricular hypert... |
OMIM:613404 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... |
ORPHA:119 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Nephrogenic diabetes insipidus, Atrial septal de... |
OMIM:208085 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypertrophic cardiomyopathy, Irritability, Optic atrophy |
OMIM:618241 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Limb hypertonia, Congestive heart failure, Dilated cardiomyopathy, Anxiety, Facial myokymia |
OMIM:606703 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Optic atrophy, Ventricular septal defect, Emotional lability |
ORPHA:255241 |
Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect |
OMIM:618499 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Aggressive behavior, Ventricular septal defect, Pineal cyst, Atrial septal ... |
OMIM:300967 |
Necrotizing Enterocolitis |
|
Hypotension, Bradycardia, Shock, Abnormal heart morphology |
ORPHA:391673 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
Mcleod Syndrome |
|
Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Hepatomegaly, Anxiety, Depression, Personality ... |
OMIM:300842 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Limb-girdle muscle weakness, Optic atrophy, Absent brainstem auditory... |
ORPHA:1215 |
Refsum Disease, Classic |
|
Congestive heart failure, Arrhythmia, Cardiomegaly, Limb muscle weakness, Cardiomyopathy |
OMIM:266500 |
Collagenoma, Familial Cutaneous |
|
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... |
OMIM:115250 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy |
OMIM:614879 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Aortic valve stenosis, Thickened aortic valve cusp, Left ventricular hypert... |
OMIM:619698 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Abnormal autonomic nervous system physiology, Cryptorchidism, Arrhythmia |
ORPHA:168593 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left ventricular hypertrophy, ... |
OMIM:616564 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Aggressive behavior, Optic atrophy |
OMIM:300438 |
Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Dilatation ... |
OMIM:600996 |
Glossopharyngeal Neuralgia |
|
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Syncope, Jaw claudication,... |
ORPHA:221098 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Triceps weakness, Elb... |
ORPHA:70 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Congestive heart failure, Testicular atrophy, Diabetes mellitus, Hepatomegaly, Ar... |
OMIM:235200 |
Hec Syndrome |
|
Vaginal hydrocele, Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Macroglossia, Decreased circulati... |
ORPHA:226313 |
Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Flexion contracture, Abnormal EKG, Calf muscle hypertrophy, Muscular dy... |
OMIM:310200 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi... |
OMIM:212140 |
Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Abnormal muscle fiber morphology, Myotonia, Increased intramyo... |
ORPHA:681 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypertension, Adr... |
ORPHA:404 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Adrenal hyperplasia, Epistaxis, Secretory adrenocortical a... |
ORPHA:403 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Cardiomyopathy |
OMIM:619003 |
Multiple System Atrophy |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
ORPHA:102 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia |
OMIM:201910 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage, Hepatomegaly |
OMIM:617397 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Patent foramen ovale, Aggressive behavior, Abnormal cardiac ventricular function, Ventricular sep... |
ORPHA:466791 |
Duchenne And Becker Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy |
ORPHA:262 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block, Joint contracture of the 5th finger |
OMIM:614407 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Tetanus |
|
Abnormal autonomic nervous system physiology, Hypertension, Autonomic bladder dysfunction, Bradyc... |
ORPHA:3299 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Delayed puberty, Irritability, Hepatomegaly |
ORPHA:369 |
American Trypanosomiasis |
|
Achalasia, Aganglionic megacolon, Congestive heart failure, Hepatomegaly, Arrhythmia, Myocarditis... |
ORPHA:3386 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:618378 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Cryptorchidism |
ORPHA:638 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Infantile Refsum Disease |
|
Cardiomyopathy, Optic atrophy, Hepatomegaly, Arrhythmia, Facial palsy |
ORPHA:772 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty, Dilated cardiomyopathy |
ORPHA:2229 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Congestive heart failure |
OMIM:619355 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Flexion contracture, Abnormal aortic valve morphology, Congestive heart ... |
ORPHA:1194 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Optic atrophy, Generalized ... |
OMIM:258450 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Optic disc pallor |
ORPHA:3173 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Cerebral ischemia, Abnormal aortic valve morphology, Hypertensio... |
ORPHA:3287 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ragg... |
ORPHA:1349 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level, Hypertension, Adre... |
OMIM:103900 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Generalized amyotrophy, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Arrhythmia, Proxi... |
OMIM:615084 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Dilated cardiomyopathy, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Nemaline ... |
OMIM:161800 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Depression |
OMIM:602079 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Hyperinsulinemia, Flexion contracture, Splenomega... |
OMIM:613327 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Hypogonadism, Generalized amyotrophy, Type II diabetes mellitus, Myoto... |
OMIM:602668 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Generalized amyotrophy, Hepatomegaly, Ragged-red muscle fibers |
OMIM:613561 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Rhabdomyolysis, Myopathy, Hepatomegaly, Arrhythmia, Cardiomyopathy |
ORPHA:228305 |
Coproporphyria, Hereditary |
|
Splenomegaly, Hypertension, Hepatomegaly, Anxiety, Depression, Tachycardia |
OMIM:121300 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy |
OMIM:500007 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Patent foramen ovale, Diastasis recti, Pulmonary insufficiency, Hip con... |
ORPHA:576 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:246900 |
Glutamine Deficiency, Congenital |
|
Camptodactyly, Flexion contracture, Bradycardia |
OMIM:610015 |
Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Hypertension, Cardiomyopathy |
ORPHA:767 |
Nephronophthisis 16 |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, Pulm... |
OMIM:615382 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Decreased muscle mass, Elevated jugular venous pressure, Apathy, Congestive heart... |
ORPHA:465508 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Optic atrophy, Congestive heart failure, Depression, Cardiomegaly, Limb muscle weakness, Cardiomy... |
OMIM:619259 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy |
OMIM:616549 |
X-Linked Intellectual Disability, Hedera Type |
|
Hypomimic face, Left ventricular hypertrophy |
ORPHA:93952 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Alg1-Cdg |
|
Abnormal heart morphology, Cardiomyopathy |
ORPHA:79327 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi... |
OMIM:613507 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Primary adrenal insufficiency, Diabetes mellitus, Hypoparath... |
OMIM:530000 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
OMIM:616896 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Cranial ner... |
ORPHA:52430 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Cardiomyopathy |
OMIM:604250 |
Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
Illum Syndrome |
|
Bradycardia, Arthrogryposis multiplex congenita, Calcinosis |
OMIM:208155 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Wolfram Syndrome |
|
Diabetes insipidus, Hypogonadism, Optic atrophy, Abnormal autonomic nervous system physiology, Ma... |
ORPHA:3463 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Hepatomegaly, Arrhythmia |
ORPHA:156 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent foramen ovale, Increased variability in muscle fiber diameter, Flexion contracture, Muscle... |
OMIM:616866 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Lower limb muscle weakness, Generalized limb muscle atrophy, Facial diplegia, Foot dorsiflexor we... |
ORPHA:521411 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Patent foramen ovale, Pulmonary v... |
OMIM:265380 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Abnormal cardiac ventricular function, Hepatomegaly, Cardiomyopathy |
ORPHA:2394 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Myotonia, Facial diplegia, Testicular atrophy, Atrial flutter, First degree atriove... |
OMIM:160900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega... |
OMIM:619051 |
Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Abnormal autonomic nervous system physiology, Cerebral vasculitis, Hashimoto thyr... |
ORPHA:83601 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Abnormal cardiac se |