Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility |
OMIM:607482 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
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 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
His Bundle Tachycardia |
|
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death |
OMIM:613172 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
Cardiomyopathy, Dilated, 1J |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1X |
|
Dilated cardiomyopathy |
OMIM:611615 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... |
OMIM:612158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... |
OMIM:604286 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy |
OMIM:613642 |
Cardiomyopathy, Dilated, 3B |
|
Dilated cardiomyopathy |
OMIM:302045 |
Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy |
OMIM:613122 |
Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy |
OMIM:613252 |
Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy |
OMIM:611879 |
Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy |
OMIM:613286 |
Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy |
OMIM:612877 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:613881 |
Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:611880 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Cardiomyopathy, familial hypertrophic, 19 |
|
Asymmetric septal hypertrophy |
OMIM:613875 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
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 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction |
OMIM:618189 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... |
OMIM:615248 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... |
OMIM:181350 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602087 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602086 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:615184 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
OMIM:613752 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Endocardial fibrosis |
OMIM:613255 |
Endocardial Fibroelastosis |
|
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy |
OMIM:226000 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation |
OMIM:614672 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... |
OMIM:608099 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder gir... |
ORPHA:34515 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... |
OMIM:613426 |
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 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Hip flexor weakness, Car... |
ORPHA:63273 |
Myopathy, Distal, 1 |
|
Dilated cardiomyopathy, Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed v... |
OMIM:160500 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:619371 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology |
OMIM:618250 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Dilated cardiomyopathy, Triangular tongue, Skeletal muscle atrophy, Macroglossia, Muscular dystro... |
OMIM:616827 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... |
OMIM:115210 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Distal ... |
OMIM:609200 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... |
OMIM:255160 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Calf ... |
ORPHA:263494 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Increased vari... |
OMIM:612937 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy |
ORPHA:79281 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial... |
OMIM:619402 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613690 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Left ventricular systoli... |
ORPHA:206559 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy |
OMIM:602541 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300718 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... |
OMIM:611556 |
Salih Myopathy |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Flexion contracture, Calf muscle hypertrophy, Cen... |
OMIM:611705 |
Myopathy, Distal, 4 |
|
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... |
OMIM:614065 |
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 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy |
OMIM:614676 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles |
OMIM:609500 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Cardiomegaly, EMG: myop... |
OMIM:300257 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex co... |
OMIM:611369 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect |
OMIM:615981 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy |
OMIM:610768 |
Myopathy, Centronuclear, 5 |
|
Dilated cardiomyopathy, Facial palsy, Hip contracture |
OMIM:615959 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, F... |
ORPHA:171442 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy |
OMIM:605676 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation |
OMIM:613874 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... |
ORPHA:59135 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left atrial enlargement, Left ventricular no... |
OMIM:619424 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia |
OMIM:606703 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... |
OMIM:108770 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy |
OMIM:615895 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... |
ORPHA:300751 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia |
ORPHA:324588 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613876 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... |
OMIM:115200 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... |
OMIM:613873 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia |
OMIM:300376 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... |
ORPHA:98912 |
Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Skeletal myopathy, Endocardial fibroelastosi... |
OMIM:302060 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy |
OMIM:602390 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture |
OMIM:618815 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Scapular winging, Nemaline bodies, Facial palsy, Cardiomyopathy |
OMIM:617336 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:614429 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness |
ORPHA:320360 |
Nemaline Myopathy 3 |
|
Dilated cardiomyopathy, Limb muscle weakness, Facial palsy, Arthrogryposis multiplex congenita, E... |
OMIM:161800 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Muscular dystrophy, Arrhythmia, Cardiomyopathy |
OMIM:612999 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... |
OMIM:607598 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy |
OMIM:609016 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Abnormal cardiac septum morphology, Patent ductus arteriosus |
OMIM:601612 |
Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Cardiomyopathy, Distal amyotrophy, ... |
ORPHA:98911 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Muscular dystrophy, Congestive heart failure, Calf muscle... |
OMIM:310200 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture |
OMIM:609308 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... |
OMIM:610198 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... |
ORPHA:563 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Myopathy, Cardiomyopathy, Fatty replacement of skeletal muscle |
OMIM:255100 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Arrhythmia |
OMIM:615084 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:614299 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Mitral regurgitation, Neonatal death, Left ventricular systolic dysfuncti... |
OMIM:619167 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch |
OMIM:613751 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Myopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Fl... |
ORPHA:272 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Rhabdomyolysis |
OMIM:618120 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... |
ORPHA:98855 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal mus... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal mus... |
ORPHA:261 |
Mcleod Syndrome |
|
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy, Rhabdomyolysis |
OMIM:300842 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cong... |
ORPHA:1349 |
Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Dilated cardiomyopathy, Limb joint contracture, Facial palsy, Type 1 fibers relatively smaller th... |
OMIM:255310 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:212112 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Gener... |
ORPHA:352447 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ... |
ORPHA:75566 |
Dk1-Cdg |
|
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Congestive hear... |
ORPHA:91131 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Autophagic vacuoles, Facial diplegia, Cardiomyopathy, EMG: myopathic abnormalities, Increased var... |
ORPHA:399058 |
Myopathy, Myofibrillar, 2 |
|
Hypertrophic cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystroph... |
OMIM:608810 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Coarctation of aorta... |
ORPHA:1209 |
Hemochromatosis Type 2 |
|
Dilated cardiomyopathy |
ORPHA:79230 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis |
OMIM:617222 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Macroglossia, Achilles tendon contracture,... |
OMIM:607155 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy |
OMIM:615119 |
Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... |
OMIM:614980 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... |
ORPHA:1345 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... |
OMIM:613838 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Global systolic dysfunction, Cardiomyopathy, Limb muscle weakness |
OMIM:606842 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Palpitations, Ventricular hypertrophy, Ventricular tachycardia, Ventricula... |
ORPHA:263297 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, EMG: myopathic abnormalities, Cardiomyopathy, Muscle fiber splitting, Myofib... |
OMIM:609452 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Arrhythmia, Cardiomyopathy |
OMIM:616198 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
Malonyl-Coa Decarboxylase Deficiency |
|
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
OMIM:248360 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Biventricular hypertrophy, Atrial fibrillation, ST segment ... |
OMIM:613243 |
Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Pericardit... |
ORPHA:732 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Dilated cardiomyopathy, Mitral valve prolapse, Left ventricular systolic dysfunction |
OMIM:145350 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Angina pectoris |
ORPHA:53296 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Macroglossia, Facial palsy, Cardiomyopathy, Congenital muscular dystrophy, Muscular dystrophy, Fl... |
OMIM:613155 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Cardiomyopathy |
OMIM:105120 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation |
OMIM:300952 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... |
OMIM:609040 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Syncope, Tachycardia |
OMIM:615821 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... |
OMIM:600996 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:231530 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis |
OMIM:607685 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage |
OMIM:300845 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611126 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Aortic regurgitation, Renovascular hypertension |
ORPHA:401923 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Truncus arteriosus, Neonatal death |
OMIM:228940 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Prolonged QT interval, Abnormal heart morphology, Atrioventricular block,... |
ORPHA:398124 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonary insufficiency, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonic stenosis |
OMIM:619433 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture |
OMIM:201470 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Myopathy, Skeletal muscle atrophy, Abnormal cardiomyocyte morphology, Abn... |
ORPHA:367 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Cardiomyopathy |
OMIM:615352 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Abnormal aortic morphology, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Hypoplastic left heart, Aortic arch a... |
ORPHA:1455 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Double outlet right ventri... |
ORPHA:2326 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... |
ORPHA:26793 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Endocardial fibroelastosis, Cardiomyopathy, Mitral regurgitation |
OMIM:226100 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... |
OMIM:108900 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cardiomyopa... |
ORPHA:86812 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture |
ORPHA:98896 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Small vessel vasculitis |
OMIM:608068 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Myopathy, Pericardial effusion, Ventricular hypertrophy, At... |
OMIM:115197 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Propionic Acidemia |
|
Arrhythmia, Cardiomyopathy |
ORPHA:35 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, EMG: myopathic abnormalities, Cong... |
ORPHA:99901 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... |
ORPHA:85451 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Hypertension, Coronary artery stenosis |
OMIM:615812 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Coronary artery stenosis, Skeletal myopathy, Palpitations, Low-ou... |
ORPHA:565612 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive heart failure, Hypertrophic c... |
OMIM:230500 |
Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Myopathy, Congestive heart failure, Rhabdomyolysis, Arrhythmia |
OMIM:609015 |
Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Calf muscle hypertrophy, Increased varia... |
ORPHA:119 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Ventricular septal defect, Aborted sudden cardiac death, Pulmonary arteri... |
OMIM:614921 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy |
OMIM:619003 |
Grange Syndrome |
|
Bicuspid aortic valve, Carotid artery stenosis, Coronary artery stenosis, Renovascular hypertensi... |
OMIM:602531 |
Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy |
OMIM:603736 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Prolonged QT interval, Generalized amyotrophy, Diaphragmatic eventration,... |
ORPHA:66634 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Myopathy, Cardiomyopathy, Distal amyotrophy |
OMIM:232400 |
Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Hypertension, Myocarditis, Hypertrophic cardiomyopathy, Aortic dissection... |
ORPHA:3342 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Pulmonic stenosis, Congenital muscular dystrophy... |
OMIM:253800 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in... |
OMIM:607459 |
Heart Block, Congenital |
|
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... |
OMIM:234700 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgi... |
ORPHA:75565 |
Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... |
ORPHA:34217 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia |
OMIM:614435 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... |
OMIM:616501 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy |
OMIM:614879 |
Collagenoma, Familial Cutaneous |
|
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Vasculitis, Congestive heart failur... |
OMIM:115250 |
Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis |
OMIM:615382 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
Leigh Syndrome With Cardiomyopathy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardiac conduction abn... |
ORPHA:70474 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Atrial fibrillation, Mitral regurg... |
ORPHA:75249 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Increased muscle lipid content, Antenatal intracerebral hemorrhage, Cardi... |
OMIM:608836 |
Hemochromatosis, Type 2B |
|
Congestive heart failure, Cardiomyopathy |
OMIM:613313 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy |
OMIM:613989 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mu... |
OMIM:619334 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Rhabdomyolysis, Patent foramen ovale |
OMIM:610505 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation |
ORPHA:261250 |
Oculopharyngodistal Myopathy 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Facial palsy, EMG: myop... |
OMIM:164310 |
Vici Syndrome |
|
Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Left ventricular hypertrophy, Congestive heart ... |
OMIM:242840 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradycardia, Con... |
OMIM:261740 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Truncus arteriosus, Situs inversus totalis, Stillbirth, Pulmonic ste... |
OMIM:615415 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Neonatal death,... |
OMIM:608978 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Reduced ejection fraction, Ventricula... |
ORPHA:254892 |
Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Cardiomyopathy |
ORPHA:93476 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy |
ORPHA:71212 |
Alstrom Syndrome |
|
Dilated cardiomyopathy, Hypertension, Atherosclerosis, Congestive heart failure |
OMIM:203800 |
Melas |
|
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Abno... |
ORPHA:550 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Coarctation of aorta, Patent foramen ovale, Anomalous origin of right ... |
OMIM:610338 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... |
OMIM:108800 |
Hec Syndrome |
|
Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy |
ORPHA:2119 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Intermittent claudication, Abnormal ... |
ORPHA:2299 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy, Cardiomyopathy |
OMIM:618839 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, High-output congestive heart failure, Hypoplasia of the musculature, Arrh... |
ORPHA:231226 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Ventricular h... |
OMIM:212138 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Pericardial effusion, Sudden cardiac death |
ORPHA:73224 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Dilated cardiomyopathy |
OMIM:616541 |
Tangier Disease |
|
Carotid artery stenosis, Accelerated atherosclerosis, Coronary artery stenosis, Facial diplegia, ... |
ORPHA:31150 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Generalized amyotrophy, Cardiomyopathy, Arthrogryposis multiplex congenita, Muscle fiber atrophy,... |
OMIM:616866 |
Sweet Syndrome |
|
Dilated cardiomyopathy, Small vessel vasculitis, Myositis |
ORPHA:3243 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, High-output congestive heart failure, Hypoplasia of the musculature, Arrh... |
ORPHA:231214 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Cardiac arrest, Hypotension |
ORPHA:20 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Cardiac conduction... |
ORPHA:255210 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Cardiomyopathy, Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Di... |
ORPHA:363623 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmonary arterial hypert... |
ORPHA:79282 |
Primary Lipodystrophy |
|
Hypertension, Myopathy, Skeletal muscle hypertrophy, Type IV atherosclerotic lesion, Cardiomyopat... |
ORPHA:90970 |
Homozygous Familial Hypercholesterolemia |
|
Cerebral artery atherosclerosis, Hypertension, Myocardial steatosis, Mitral regurgitation, Heart ... |
ORPHA:391665 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy |
OMIM:616483 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Intracranial hemorrhage, Skeletal muscle atrophy, Myocardial eosinophilic... |
ORPHA:3260 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Flexion contracture |
ORPHA:89842 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Biventricular hypertro... |
OMIM:619573 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Dilated cardiomyopathy, Hypertension, Raynaud phenomenon, Vasculitis, Portal hypertension |
OMIM:615688 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Mitral regurgitation,... |
ORPHA:2556 |
Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Atrial fibrillati... |
ORPHA:273 |
Visceral Steatosis, Congenital |
|
Myocardial steatosis, Neonatal death |
OMIM:228100 |
1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Telangiectasia, Myopathy, Aortic arch aneurysm, Abnormal heart valve morp... |
ORPHA:1606 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Noncompaction cardiomyo... |
OMIM:607872 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Dilated cardiomyopathy, Joint contractures involving the joints of the feet, Flexion contracture |
ORPHA:79408 |
Johanson-Blizzard Syndrome |
|
Dilated cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Atrial septal defect |
OMIM:243800 |
Choreoacanthocytosis |
|
Dilated cardiomyopathy, Peroneal muscle atrophy, Myopathy, Muscle fiber atrophy, Distal amyotrophy |
ORPHA:2388 |
Williams-Beuren Syndrome |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Hypertension, Ventricular septal def... |
OMIM:194050 |
Alström Syndrome |
|
Dilated cardiomyopathy, Hypertension, Pulmonary arterial hypertension, Abnormal coronary artery p... |
ORPHA:64 |