| 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 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Proximal amyotrophy, Dilated cardiomyopathy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... |
OMIM:604286 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... |
OMIM:115210 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... |
OMIM:611556 |
| Muscular dystrophy, limb-girdle, type 2R |
|
Scapular winging, Muscular dystrophy, Facial palsy, Elbow flexion contracture |
OMIM:615325 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
| 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 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle atrophy, Peroneal muscle weakness, Dilated cardiomyopathy, Sudden cardiac death, ... |
OMIM:181350 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder gir... |
ORPHA:34515 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
| Myopathy, Myofibrillar, 2 |
|
Hypertrophic cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystroph... |
OMIM:608810 |
| Dpm3-Cdg |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Calf ... |
ORPHA:263494 |
| Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
| Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy |
OMIM:614676 |
| Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death |
OMIM:613172 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... |
OMIM:255160 |
| Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
| Myopathy, Distal, 1 |
|
Dilated cardiomyopathy, Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed v... |
OMIM:160500 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Salih Myopathy |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Cen... |
OMIM:611705 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
| Muscular Dystrophy, Congenital, Producing Arthrogryposis |
|
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy |
OMIM:253900 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Cardiomyopathy, Dilated, 1X |
|
Dilated cardiomyopathy |
OMIM:611615 |
| Cardiomyopathy, Dilated, 1J |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... |
OMIM:605362 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613874 |
| Cardiomyopathy, Dilated, 3B |
|
Dilated cardiomyopathy |
OMIM:302045 |
| Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy |
OMIM:612877 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy |
OMIM:613642 |
| Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy |
OMIM:613252 |
| Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy |
OMIM:613286 |
| Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
| Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy |
OMIM:611879 |
| Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy |
OMIM:613122 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... |
OMIM:612158 |
| Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia |
OMIM:300376 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:613881 |
| Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:611880 |
| His Bundle Tachycardia |
|
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
| Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Pelvic girdle muscle weakness, Scapulohumeral muscular dystrophy, Facial palsy, Scapular winging,... |
OMIM:158901 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Increased vari... |
OMIM:612937 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... |
OMIM:617072 |
| Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction |
OMIM:618189 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... |
OMIM:608423 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy |
OMIM:271220 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Muscular dystrophy, Arrhythmia, Cardiomyopathy |
OMIM:612999 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613876 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Dilated cardiomyopathy, Skeletal muscle atrophy, Macroglossia, Muscular dystro... |
OMIM:616827 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
| Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
| Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Distal ... |
OMIM:609200 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Cardiomyopathy |
OMIM:609308 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Scapular winging, Muscular dystrophy, Shoulder girdle muscle weakness |
OMIM:310095 |
| Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... |
OMIM:254130 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Cardiomyopathy, Left ventricular hypertrophy,... |
ORPHA:86812 |
| Vacuolar Neuromyopathy |
|
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... |
OMIM:601846 |
| Cardiomyopathy, familial hypertrophic, 19 |
|
Asymmetric septal hypertrophy |
OMIM:613875 |
| Miyoshi Muscular Dystrophy 3 |
|
Muscular dystrophy, Quadriceps muscle atrophy, Calf muscle hypertrophy |
OMIM:613319 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormalities, Shoulder girdle muscle... |
OMIM:611307 |
| Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... |
OMIM:615248 |
| 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 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy |
OMIM:115195 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy |
OMIM:115196 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Hypertrophic cardiomyopathy |
OMIM:613251 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300718 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
| Immune-Mediated Necrotizing Myopathy |
|
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis... |
ORPHA:206569 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Proximal amyotrophy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Left ventricular systoli... |
ORPHA:206559 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy, Congenital muscular dystrophy |
OMIM:613152 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy |
OMIM:602541 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Muscular Dystrophy, Scapulohumeral |
|
Scapulohumeral muscular dystrophy |
OMIM:600416 |
| Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Cardiomyopathy |
OMIM:615352 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... |
ORPHA:2593 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Myositis |
|
Myositis |
OMIM:160750 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... |
OMIM:253601 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... |
OMIM:613873 |
| Atrial Fibrillation, Familial, 10 |
|
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... |
OMIM:614022 |
| Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, I... |
ORPHA:171442 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
| Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Muscular dystrophy, Limb-gird... |
OMIM:613818 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy |
OMIM:609500 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Proximal amyotrophy, Ventricular hypertrophy, Muscular dystrophy, Calf muscle hypertrophy, Scapul... |
OMIM:601287 |
| Myopathy, Myofibrillar, 6 |
|
Hypertrophic cardiomyopathy, Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, ... |
OMIM:612954 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... |
ORPHA:437572 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... |
OMIM:618655 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... |
OMIM:608099 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... |
OMIM:608358 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Macroglossia, Facial palsy, Cardiomyopathy, Congenital muscular dystrophy, Muscular dystrophy, Fl... |
OMIM:613155 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... |
OMIM:603511 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities |
OMIM:608807 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... |
OMIM:158600 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... |
OMIM:615422 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Cardiomyopathy, Increased var... |
ORPHA:399058 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
| 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 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... |
OMIM:600175 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:615184 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602087 |
| Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Flexion contracture, Kyphosis |
OMIM:168400 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Rimmed vacuoles, Flexion contracture, Scapular winging, Arrhythmia |
OMIM:300696 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Proximal amyotrophy, Muscular dystrophy, Ventricular septal hypertrophy |
OMIM:612998 |
| Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602086 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Proximal amyotrophy, Myositis, Facial palsy, Muscular dystrophy, Flexion contracture, Scapular wi... |
OMIM:253600 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:613204 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... |
ORPHA:267 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... |
OMIM:610099 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... |
OMIM:609456 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... |
OMIM:613838 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... |
ORPHA:611 |
| Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy |
OMIM:253590 |
| Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
| Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content |
OMIM:612932 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
| Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... |
OMIM:604801 |
| Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... |
ORPHA:59135 |
| Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation |
OMIM:614672 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Dilated cardiomyopathy, Limb joint contracture, Facial palsy, Type 1 fibers relatively smaller th... |
OMIM:255310 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter |
OMIM:618992 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakness, Palpitations, Atrioven... |
OMIM:616812 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... |
OMIM:618823 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:182970 |
| Myopathy, Centronuclear, 1 |
|
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... |
OMIM:160150 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... |
OMIM:619178 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis |
OMIM:271200 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... |
OMIM:605820 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, ... |
OMIM:253700 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
| Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... |
ORPHA:178464 |
| Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Palpitations, Calf muscle hypoplasia, EMG: myopathic abno... |
ORPHA:488650 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Muscular dystrophy |
OMIM:615041 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Right bundle branch block |
OMIM:613158 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture |
OMIM:613723 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Endocardial fibrosis |
OMIM:613255 |
| Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... |
OMIM:618940 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
| Myopathy, Distal, 4 |
|
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... |
OMIM:614065 |
| Endocardial Fibroelastosis |
|
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy |
OMIM:226000 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
OMIM:613752 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Arrhythmia, Elbow flexion contracture |
OMIM:616516 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... |
ORPHA:266 |
| Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Lower limb muscle weakness, Skeletal muscle atrophy, Scoliosis, Kyphosis |
OMIM:611225 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis |
OMIM:618323 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy |
OMIM:617066 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Left ventricul... |
OMIM:619040 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Calf muscle hypertrophy, Myositis |
ORPHA:565899 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Scapular winging, Nemaline bodies, Facial palsy, Cardiomyopathy |
OMIM:617336 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
| Nemaline Myopathy 3 |
|
Dilated cardiomyopathy, Limb muscle weakness, Facial palsy, EMG: myopathic abnormalities, Arthrog... |
OMIM:161800 |
| Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... |
ORPHA:75566 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... |
OMIM:608758 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Muscular dystrophy |
OMIM:616094 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Proximal amyotrophy, Atrial fibrillation, Bradycardia, Muscular dystrophy, Arrhythmia |
OMIM:614302 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Generalized amyotrophy, Flexion contracture, Congenital muscular dystrophy |
OMIM:613205 |
| Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... |
ORPHA:217607 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Myopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Fl... |
ORPHA:272 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Fatigue |
OMIM:617713 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Dilated cardiomyopathy, Left atrial enlargement, Hypertrophic cardiomyopathy, Left ventricular no... |
OMIM:619424 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... |
OMIM:619042 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Interosseus muscle atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, ... |
OMIM:607088 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... |
OMIM:255320 |
| Distal Myopathy, Welander Type |
|
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... |
ORPHA:603 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Weakness of facial musculature, Shoulder girdle muscle weakness, Scapula... |
OMIM:619477 |
| Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... |
OMIM:540000 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:619371 |
| Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... |
OMIM:500002 |
| Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy, Flexion contracture |
OMIM:613869 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
| Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, Cardiomyopathy, EMG: myopathic abnormalities, Distal amyotrophy, ... |
ORPHA:98911 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... |
OMIM:618484 |
| Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy |
OMIM:609524 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Scapular winging, Muscular dystrophy, Achilles tendon contracture, Calf muscle pseudohypertrophy |
ORPHA:62 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Generalized limb muscle atrophy, Prolonged QT interval, Congenital muscular dystrophy, Hypoglycos... |
OMIM:615351 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology |
OMIM:618250 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Pneumonia, Type 1 fibers relatively smaller than type 2 fibers, C... |
ORPHA:596 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... |
ORPHA:300751 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Bone pain |
OMIM:616833 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... |
ORPHA:34516 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... |
OMIM:108900 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... |
ORPHA:370980 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Muscular dystrophy, Skeletal muscle hypertrophy |
OMIM:613157 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Left ventricular systolic dysfunction, C... |
OMIM:613156 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Foot dorsiflexor weakness, Scoliosis, Kyphosis |
OMIM:617087 |
| Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Muscular dystrophy, Congestive heart failure, Flexion con... |
OMIM:310200 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Skeletal muscle hypertrophy, Macroglossia, Achilles tendon contracture, Facial palsy, Joint contr... |
OMIM:608840 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle muscle atrophy, Shoul... |
OMIM:158900 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial... |
OMIM:619402 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613690 |
| 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 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... |
ORPHA:98855 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... |
OMIM:615418 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy |
OMIM:615350 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Muscular dystrophy, Congenital muscular dystrophy |
OMIM:613151 |
| Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Generalized amyotrophy,... |
OMIM:300257 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... |
ORPHA:85451 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... |
OMIM:615424 |
| Classic Multiminicore Myopathy |
|
Right ventricular failure, Increased muscle lipid content, Mitral valve prolapse, Weakness of fac... |
ORPHA:324604 |
| Bethlem Myopathy 2 |
|
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Flexion contracture |
OMIM:611588 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... |
ORPHA:353 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... |
ORPHA:401768 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... |
OMIM:123320 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cong... |
ORPHA:1349 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Gener... |
ORPHA:352447 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... |
ORPHA:98912 |
| Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... |
ORPHA:98853 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... |
ORPHA:457050 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... |
ORPHA:169186 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369840 |
| Myopathy, Centronuclear, 2 |
|
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Flexion con... |
OMIM:255200 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... |
ORPHA:2926 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:486815 |
| Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Mitral regurgitation, Limb muscle weakness, Achilles tendo... |
OMIM:617258 |
| Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
| Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, EMG: myopathic abnormalities, Cardiomyopathy, Muscle fiber splitting, Myofib... |
OMIM:609452 |
| Myopathy, Centronuclear, 5 |
|
Dilated cardiomyopathy, Facial palsy, Hip contracture |
OMIM:615959 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased intramyocellular lipid droplets, Weakness of facial musculature |
OMIM:619062 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Skeletal myopathy, Endocardial fibroelastosi... |
OMIM:302060 |
| Focal Myositis |
|
Myositis |
ORPHA:48918 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy, Congestive hear... |
OMIM:619048 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Calf muscle hypertrophy, Increased varia... |
ORPHA:119 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease |
ORPHA:69126 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... |
ORPHA:3092 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Proximal amyotrophy, Dilated cardiomyopathy, Generalized amyotrophy, Facial palsy, Arrhythmia |
OMIM:615084 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
| Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
| King-Denborough Syndrome |
|
Ventricular septal defect, Minicore myopathy, Weakness of facial musculature, Muscle fiber atroph... |
OMIM:619542 |
| Genetic Recurrent Myoglobinuria |
|
Viral infection-induced rhabdomyolysis, Type 2 muscle fiber atrophy, Myositis, Abnormality of jaw... |
ORPHA:99845 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Global systolic dysfunction, Cardiomyopathy, Limb muscle weakness |
OMIM:606842 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness |
ORPHA:320360 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Myopathy, Fatty replacement of skeletal muscle, Cardiomyopathy |
OMIM:255100 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... |
OMIM:256030 |
| Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect |
OMIM:615981 |
| Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... |
OMIM:160565 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy |
OMIM:610768 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... |
OMIM:616924 |
| Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Muscular dystrophy, Flexion contracture |
OMIM:613154 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... |
OMIM:616470 |
| Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy |
OMIM:605676 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia |
OMIM:606703 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
| Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Generalized amyotrophy, Facia... |
OMIM:602771 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... |
OMIM:613426 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture |
OMIM:618815 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Macroglossia, Achilles tendon contracture,... |
OMIM:607155 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Scoliosis, Kyphosis |
ORPHA:101075 |
| Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Muscular edema, Myositis |
ORPHA:3165 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Sinusitis, Tubulointerstitial nephritis, ... |
ORPHA:183 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Absent muscle fiber merosin, Reduced ejection fraction, Myositis, Macroglossia, Pulmonary arteria... |
ORPHA:258 |
| Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia |
ORPHA:324588 |
| Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Abnormal left ventricular function, Reduced ejection fraction, Angina pectoris, ... |
ORPHA:3093 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... |
OMIM:115200 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Oligoarthritis, Gastrointestinal hemorrhage, Maculopapular exanthema, Skin rash, Erysip... |
OMIM:142680 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Rhabdomyolysis |
OMIM:618120 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Retinal hemorrhage, Flexion contracture, Congenital c... |
OMIM:615368 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... |
OMIM:603689 |
| Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... |
OMIM:108770 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy |
OMIM:615895 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
| Osteomesopyknosis |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body |
ORPHA:2777 |
| Bethlem Myopathy |
|
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
ORPHA:610 |
| Antisynthetase Syndrome |
|
Myocarditis, Keratoconjunctivitis sicca, Myositis, Aortic regurgitation, Pulmonary arterial hyper... |
ORPHA:81 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... |
ORPHA:276435 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Pneumonia... |
ORPHA:98905 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Myopathy, Limb muscle weakness |
OMIM:609273 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting |
OMIM:618129 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
| Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Pericardit... |
ORPHA:732 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance |
ORPHA:178145 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Muscular dystrophy |
ORPHA:459033 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy, Scoliosis |
OMIM:618244 |
| Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content, Cardiomyopathy |
OMIM:610717 |
| Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Rimmed vacuoles, Flexion contracture, Centrally nucleated skel... |
OMIM:248800 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... |
OMIM:607598 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities |
OMIM:609283 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Telangiectasia, Skeletal muscle atrophy, Pustule, Myositis, Raynaud phenomenon, Malar rash, Skin ... |
OMIM:615934 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Flexion contracture |
OMIM:616733 |
| Idiopathic Camptocormia |
|
Abnormal inflammatory response, Myositis, EMG: myopathic abnormalities, Proximal spinal muscular ... |
ORPHA:1320 |
| Glycogen Storage Disease Ixb |
|
Increased muscle glycogen content |
OMIM:261750 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... |
OMIM:618138 |
| Nemaline Myopathy 4 |
|
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Flexion contractu... |
OMIM:609285 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Ragged-red muscle fibers, Mitral valve prolapse, Mitral regurgitation, Generalized amyotrophy, Fa... |
OMIM:258450 |
| Mcleod Syndrome |
|
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy, Rhabdomyolysis |
OMIM:300842 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... |
ORPHA:399086 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy |
OMIM:602390 |
| Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Skeletal muscle atrophy, Pneumonia, Stomatitis, Myositis, F... |
ORPHA:39812 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles |
OMIM:617760 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Mitral valve prolapse, Generalized amyotrophy, Facial palsy, Re... |
ORPHA:171881 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Palpitations, Ventricular hypertrophy, Ventricular tachycardia, EMG: myopa... |
ORPHA:263297 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Congenital diaphragmatic hernia, Atrial septal defect, Abnormal he... |
DECIPHER:39 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Shock, Sinusitis, Infectious encephalitis, Pneumonia, Myositis, Peritonitis, Fasciit... |
ORPHA:36234 |
| Sweet Syndrome |
|
Dilated cardiomyopathy, Inflammation of the large intestine, Predominantly dermal neutrophilic in... |
ORPHA:3243 |
| Whipple Disease |
|
Myocarditis, Pericarditis, Infectious encephalitis, Myositis, Arthritis, Myocardial infarction, G... |
ORPHA:3452 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormality of the foot musculature, EMG: myopathic abno... |
ORPHA:169189 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... |
ORPHA:563 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... |
ORPHA:97240 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Macroglossia, Achilles tendon contracture, Shoulder girdle muscle atrophy, S... |
OMIM:606612 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Congestive heart failure |
OMIM:616794 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Intrinsic hand muscle atro... |
OMIM:619574 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Myopathy, Skeletal muscle atrophy, Abnormal muscle glycogen content, Abno... |
ORPHA:367 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy |
OMIM:615980 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Kyphoscoliosis, Distal amyotrophy |
OMIM:619099 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Congenital foot contractures, Scoliosis, Distal amyotrophy |
ORPHA:3454 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death |
OMIM:300219 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... |
ORPHA:75840 |
| Tangier Disease |
|
Hepatomegaly, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Myocardial infarction,... |
OMIM:205400 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Atrioventricular block, Achilles tendon contracture, Decreased cervical spine flexion d... |
OMIM:310300 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Panniculitis, Skeletal muscle atrophy, Flexion contracture, Myositis |
OMIM:619183 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... |
OMIM:613954 |
| Pericardial Effusion, Chronic |
|
Constrictive pericarditis, Pericardial effusion |
OMIM:260900 |
| Juvenile Dermatomyositis |
|
Calcinosis, Pericarditis, Myositis, Telangiectasia of the skin, Cardiomyopathy, Bundle branch blo... |
ORPHA:93672 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Campt... |
OMIM:618393 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Scoliosis, Kyphosis |
ORPHA:101078 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Increased ... |
OMIM:616867 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Myositis, Discoid lupus rash, Nephritis, Arthritis, Raynaud phenomenon, Mal... |
ORPHA:93552 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Upper limb amyotrophy, Kyphoscoliosis, Knee flexion contracture, Proximal muscle weakness in uppe... |
ORPHA:496689 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis |
ORPHA:48104 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Ragged-red muscle fibers, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... |
OMIM:617300 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Myopathy, Pericardial effusion, Ascites, Ventricular hypertrophy, Ca... |
OMIM:115197 |
| Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Platyspondyly, Kyphosis, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Pulmonary arterial hypertension,... |
ORPHA:809 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Muscle fiber necrosis, Increased variability in... |
OMIM:607459 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscular dystrophy, Punctate keratitis, Keratitis |
OMIM:226670 |
| Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Congenital muscular dystrophy, Facial palsy, EMG: myopathic abnormalities, Limb muscle weakness |
OMIM:601170 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Cardiomyopathy, Congestive... |
ORPHA:52430 |
| 3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... |
OMIM:610198 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy, Congest... |
ORPHA:444013 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis |
OMIM:616566 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Ankle flexion contracture, Knee flexion contracture, Patent ductus arteriosus, Mu... |
OMIM:608799 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy |
OMIM:609016 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... |
ORPHA:57777 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Torticollis, Generalized amyotrophy, Facial palsy, Congenital muscula... |
OMIM:254090 |
| Glycerol Kinase Deficiency |
|
Muscular dystrophy, Myopathy |
OMIM:307030 |
| Myasthenia Gravis |
|
Myositis, Hepatitis, Raynaud phenomenon, Rheumatoid arthritis, Hashimoto thyroiditis |
ORPHA:589 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormal heart morphology, Polyhydramni... |
ORPHA:1041 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... |
ORPHA:40 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Generalized amyotrophy, Arthrogryposis multiplex congenita, Cardiomyopathy, Patent ductus arterio... |
OMIM:616866 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mus... |
OMIM:619334 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... |
ORPHA:3208 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Weakness of facial musculature, Mitral stenosis, Knee flexion contract... |
OMIM:619461 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus |
OMIM:616501 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Mitral regurgitation, Neonatal death, Left ventricular systolic dysfuncti... |
OMIM:619167 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Myositis, Peritonitis, Fasciitis, Arthritis, Vasculitis, Uveitis, Skin rash, Orchit... |
ORPHA:32960 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture |
OMIM:201470 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Pulmonary arterial hypertensi... |
OMIM:615474 |
| Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Mitral valve prol... |
ORPHA:597 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure |
OMIM:618234 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:614299 |
| Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Back pain, Kyphosis, Short neck, Squared-off platyspondyly, Scoli... |
OMIM:271530 |
| Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscular dystrophy, Calf muscl... |
OMIM:616052 |
| Congenital Tricuspid Valve Dysplasia |
|
Intrauterine growth retardation, Pericardial effusion, Right ventricular hypertrophy, Cardiomegal... |
ORPHA:555874 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Growth delay, Ascites, Pulmonic stenosis, Pleural effusion, Hydrops fetalis |
ORPHA:2414 |
| Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle... |
ORPHA:2348 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy |
ORPHA:324416 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Hypertension, S... |
ORPHA:79083 |
| Familial Hyperaldosteronism Type Iii |
|
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Left ventricular hypertr... |
ORPHA:251274 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, ... |
OMIM:615355 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Myopathy, Congenital contracture, Muscle fiber inclusion bodies |
OMIM:605637 |
| Behçet Disease |
|
Retrobulbar optic neuritis, Cerebral ischemia, Optic neuritis, Gastrointestinal hemorrhage, Vascu... |
ORPHA:117 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Facial palsy, Cardiomyopathy, Optic neu... |
ORPHA:254886 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Congenital fibrosis of extraocular muscles, Kyphosis |
OMIM:609384 |
| Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... |
ORPHA:99106 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... |
OMIM:609813 |
| Lambert Syndrome |
|
Branchial anomaly, Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Intrauterine ... |
ORPHA:1296 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... |
OMIM:181405 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:212112 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy, Scoliosis, Kyphosis |
ORPHA:2598 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Skeletal muscle hypertrophy, Macroglossia, Cardiomyopathy, Reduced muscle fiber alpha dystroglyca... |
ORPHA:370959 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Myopathy, EMG: myopathic abnormalities, Arthritis, Increased variability in muscle fiber diameter... |
ORPHA:397744 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
| Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... |
OMIM:605355 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
| Duchenne Muscular Dystrophy |
|
Cardiomyopathy, Skeletal muscle atrophy, Calf muscle hypertrophy, Flexion contracture |
ORPHA:98896 |
| Pyomyositis |
|
Sudden cardiac death, Recurrent cutaneous abscess formation, Myositis |
ORPHA:764 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Shoulder girdle muscle atrophy, Sh... |
OMIM:167320 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly, Mitral regurgitation |
OMIM:618052 |
| Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Hypertension, Pulmonary arterial hypertension, Right ventricular hypertrophy |
OMIM:268500 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Myopathy, Congestive heart failure, Rhabdomyolysis, Arrhythmia |
OMIM:609015 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
| Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... |
ORPHA:1686 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, EMG: myopathic abnormalities, Cong... |
ORPHA:99901 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... |
ORPHA:90065 |
| Hemochromatosis Type 2 |
|
Dilated cardiomyopathy |
ORPHA:79230 |
| Oculopharyngodistal Myopathy 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Facial palsy, EMG: myop... |
OMIM:164310 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
