| Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
| Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613122 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... |
OMIM:301075 |
| Glycogen Storage Disease 0, Muscle |
|
Exercise intolerance, Left ventricular hypertrophy, Decreased muscle glycogen content, Left atria... |
OMIM:611556 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... |
OMIM:115210 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
| Muscular dystrophy, limb-girdle, type 2R |
|
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy |
OMIM:615325 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
| Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
| Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
| Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... |
OMIM:612201 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, ... |
OMIM:611615 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... |
ORPHA:263494 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
| Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... |
OMIM:611705 |
| Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... |
OMIM:619566 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... |
OMIM:619903 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy |
OMIM:300376 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
| Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... |
OMIM:160500 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
| Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness, Foot dorsifle... |
OMIM:158901 |
| Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Sudden death, Mitral valve prolapse, Hypertrophi... |
OMIM:614676 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... |
OMIM:612937 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... |
OMIM:613874 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:300718 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613876 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... |
OMIM:617072 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... |
OMIM:616827 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy |
OMIM:612999 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture |
OMIM:609308 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Cardiomyop... |
OMIM:609200 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging |
OMIM:310095 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Fourth heart sound, Congestive heart failure, Right axis deviation, Sinus tachycardia, EMG: myopa... |
OMIM:255160 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
| Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
| Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
| Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
| Cardiomyopathy, familial hypertrophic, 19 |
|
Asymmetric septal hypertrophy |
OMIM:613875 |
| Miyoshi Muscular Dystrophy 3 |
|
Calf muscle hypertrophy, Muscular dystrophy, Quadriceps muscle atrophy |
OMIM:613319 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... |
OMIM:611307 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Dilated cardiomyo... |
OMIM:300580 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
| Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
| Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Skin rash, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EM... |
ORPHA:206569 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Facial palsy, Myopathy |
OMIM:602541 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy |
OMIM:615352 |
| Muscular Dystrophy, Scapulohumeral |
|
Scapulohumeral muscular dystrophy |
OMIM:600416 |
| Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Myositis |
|
Myositis |
OMIM:160750 |
| Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Muscular dystrophy, Scapular winging, Myositis, Lower limb muscle weakness, ... |
OMIM:253600 |
| Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... |
OMIM:619897 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
| Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy |
OMIM:609500 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Muscular dystrophy, Ventricular hypertrophy, Scapular winging, Proximal ... |
OMIM:601287 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:171442 |
| Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Knee flexion contracture... |
OMIM:612954 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Macroglossia, Flexion contracture, Muscular dystrophy, Congen... |
OMIM:613155 |
| Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... |
OMIM:608099 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... |
ORPHA:437572 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... |
OMIM:617912 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Skeletal muscle atrophy |
OMIM:608807 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... |
OMIM:615422 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Hip contracture, Nonprogressive muscular atrophy, Scoliosis, Hyperlordosis, Spinal musc... |
OMIM:600175 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Ventricular septal hypertrophy, Proximal amyotrophy |
OMIM:612998 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... |
ORPHA:63273 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... |
OMIM:613818 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... |
ORPHA:267 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
| Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy |
OMIM:253590 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... |
OMIM:603511 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
| Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Dilated cardiomyopathy, Limb j... |
OMIM:255310 |
| Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis, Proximal amyotrophy, Spinal muscular atrophy |
OMIM:271200 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy |
OMIM:613152 |
| Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy |
OMIM:613158 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Muscular dystrophy |
OMIM:615041 |
| Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
| Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture |
OMIM:613723 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Palpitations, Increased variability ... |
ORPHA:488650 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... |
OMIM:613255 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
OMIM:613752 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Arrhythmia, Elbow flexion contracture |
OMIM:616516 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... |
ORPHA:266 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis, Lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:611225 |
| Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis, Flexion contracture |
OMIM:168400 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy, Arrhythmia, Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis |
ORPHA:565899 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Myopathy, Generalized amyotrophy |
OMIM:618323 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... |
ORPHA:272 |
| Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Exercise intolerance, Left ventricular hypertrophy, Fatigue, Cardiomegaly, Cardiomy... |
OMIM:617713 |
| Nemaline Myopathy 3 |
|
Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Dilated cardiomy... |
OMIM:161800 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Muscular dystrophy |
OMIM:616094 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital muscular dystrophy, Generalized amyotrophy, Flexion contracture |
OMIM:613205 |
| Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... |
ORPHA:217607 |
| Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Prolon... |
OMIM:619040 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... |
ORPHA:598 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... |
OMIM:619424 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Interosseus muscle atrophy, Spinal muscular atrophy, Distal amyotrophy, Hyperlordosis, Distal low... |
OMIM:607088 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Aspiration pneumonia, Weakness of facial musculature, Shoulder girdle mu... |
OMIM:619477 |
| Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Congenital musc... |
OMIM:615351 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
| 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 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Muscular dystrophy, Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture |
ORPHA:62 |
| Distal Myotilinopathy |
|
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Abnormal muscle fib... |
ORPHA:98911 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... |
ORPHA:370980 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
| Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... |
OMIM:602771 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... |
ORPHA:85451 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... |
ORPHA:300751 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relatively smaller... |
ORPHA:596 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Bone pain |
OMIM:616833 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Concentric hypert... |
OMIM:619402 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... |
OMIM:618484 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Foot dorsiflexor weakness |
OMIM:617087 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan |
OMIM:615350 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Retinal telangiecta... |
OMIM:158900 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology |
OMIM:618250 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Myalgia, Exercise intolerance, EMG: myopathic abnormalities, Left ventricular hypertrophy, Fatigu... |
OMIM:615418 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... |
OMIM:613690 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Congenital muscular dystrophy, Muscular dystrophy |
OMIM:613151 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Keratitis, Muscular dystrophy, Increased variability in muscle fiber dia... |
OMIM:226670 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98855 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... |
ORPHA:1349 |
| Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, EMG: myopathic abnormalities, Myocardial nec... |
OMIM:300257 |
| Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Flexion contracture, Skeletal muscle hypertrophy |
OMIM:611588 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, EMG: myopathic abnormal... |
OMIM:608840 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Limb-girdle muscle weakness, F... |
ORPHA:98912 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
| Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... |
OMIM:310200 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy |
ORPHA:369840 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
| Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98853 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Arrhythmia, Ragged-red muscle fibers, Dilated cardiomyopathy, Myo... |
ORPHA:352447 |
| 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, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
| Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Mitral regurgitation, Scapular winging, Joint contracture of the 5th finger, Lim... |
OMIM:617258 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Myofibrillar myopathy, Autophagic vacuoles, Muscle fiber splitting,... |
OMIM:609452 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... |
ORPHA:169186 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy |
ORPHA:2515 |
| Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
| Focal Myositis |
|
Myositis |
ORPHA:48918 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Ventricular hypertrophy, Congestive heart failure, Br... |
OMIM:619048 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Arrhythmia, Dilated cardiomyopathy, Facial palsy, Generalized amyotrophy, Proximal amyotrophy |
OMIM:615084 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Facial palsy, Dilated cardiomyopathy |
OMIM:615959 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
| Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Acne |
ORPHA:69126 |
| Genetic Recurrent Myoglobinuria |
|
Type 2 muscle fiber atrophy, Arrhythmia, Myositis, Lower limb muscle weakness, Abnormality of jaw... |
ORPHA:99845 |
| King-Denborough Syndrome |
|
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... |
OMIM:619542 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
| Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased va... |
ORPHA:171439 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Leg muscle stiffness, Distal lower limb muscle weakness, Cardiomyopathy |
ORPHA:320360 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
| Myopathy, Centronuclear, 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... |
OMIM:255200 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy |
OMIM:255100 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... |
OMIM:616470 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
| Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... |
OMIM:611878 |
| Nemaline Myopathy 2 |
|
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... |
OMIM:256030 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Muscular dystrophy, Flexion contracture |
OMIM:613154 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
| Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure |
ORPHA:324588 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscle fiber atrophy, Macroglossia, Flexion contracture, Absent muscle fiber merosin, Muscular dy... |
ORPHA:258 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... |
ORPHA:3093 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis, Distal upper limb amyotrophy, Distal lower limb amyotrophy |
ORPHA:101075 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy, Lower limb muscle weakness, Hypertension, Skeletal muscle atrophy, Myopathy |
OMIM:615980 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Abnormal left ventricular function, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pel... |
OMIM:607155 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Flexion contracture, Hypertrophic cardiomyopathy |
OMIM:618815 |
| Eosinophilic Fasciitis |
|
Muscular edema, Fasciitis, Myositis, Arthritis |
ORPHA:3165 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Skin rash, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endoc... |
ORPHA:183 |
| Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Retinal hemorrhage, Flexion c... |
OMIM:615368 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Oligoarthritis, Skin rash, Maculopapular exanthema, Erysipelas, Myositis, Gastrointestinal hemorr... |
OMIM:142680 |
| Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... |
ORPHA:178400 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... |
OMIM:617336 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy |
OMIM:618129 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
| Antisynthetase Syndrome |
|
Telangiectasia of the skin, Skin rash, Myositis, Myocarditis, Aortic regurgitation, Keratoconjunc... |
ORPHA:81 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
| Bethlem Myopathy |
|
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... |
ORPHA:610 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy |
ORPHA:178145 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscular atrophy |
ORPHA:459033 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Rhabdomyolysis, Ankle flexion contracture, Dilated cardiomyopathy |
OMIM:618120 |
| Polymyositis |
|
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Arrhythmia, Vasculitis, Arthr... |
ORPHA:732 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
| Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Dilated cardiomyopathy, Skeletal muscle atrophy, Arthrogryposis multip... |
OMIM:607598 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustule, Skin rash, Raynaud phenomenon, Myositis, Pustular rash, Malar rash, Telangiectasia, Skel... |
OMIM:615934 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Flexion contracture, Type 1 muscle fiber predom... |
OMIM:609285 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
| Idiopathic Camptocormia |
|
EMG: myopathic abnormalities, Osteoarthritis, Abnormal inflammatory response, Myelitis, Abnormal ... |
ORPHA:1320 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle... |
OMIM:248800 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Flexion contracture |
OMIM:616733 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
| Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Dupuytren contracture, Maculopapular exanthema, Chronic hep... |
ORPHA:39812 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
| Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... |
OMIM:618138 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:602390 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Sinus tachycardia, Increased variability in muscle fiber diamet... |
ORPHA:171881 |
| Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... |
OMIM:606070 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Sweet Syndrome |
|
Oligoarthritis, Pustule, Acne inversa, Myositis, Inflammation of the large intestine, Dilated car... |
ORPHA:3243 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
| Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Tachycardia, Myositi... |
ORPHA:36234 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
| Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
| Whipple Disease |
|
Myositis, Myocarditis, Arthritis, Hypotension, Myocardial infarction, Uveitis, Infectious encepha... |
ORPHA:3452 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, Shoulder ... |
OMIM:606612 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... |
OMIM:614399 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Congestive heart failure |
OMIM:616794 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... |
ORPHA:563 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Flexion contracture, Panniculitis |
OMIM:619183 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... |
OMIM:612124 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Kyphoscoliosis, Distal amyotrophy |
OMIM:619099 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pat... |
OMIM:616867 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
| Pericardial Effusion, Chronic |
|
Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakn... |
OMIM:619574 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis, Congenital foot contractures, Distal amyotrophy |
ORPHA:3454 |
| Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy, Myo... |
OMIM:205400 |
| Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure |
OMIM:606703 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... |
OMIM:310300 |
| Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... |
ORPHA:57777 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:101078 |
| Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Ske... |
OMIM:618393 |
| Juvenile Dermatomyositis |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Skin r... |
ORPHA:93672 |
| Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Skin rash, Raynaud phenomenon, Myositis, Arthritis, Malar rash, Pe... |
ORPHA:93552 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Kyphoscoliosis, Lower limb amyotrophy, Knee flexion contracture, Upper limb amyotrophy, Proximal ... |
ORPHA:496689 |
| Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Congenital muscular dystrophy, EMG: myopathic abnormalities, Facial palsy, Limb muscle weakness |
OMIM:601170 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy |
OMIM:300219 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... |
OMIM:607459 |
| Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
| Nemaline Myopathy 7 |
|
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Weakness of facial musculature, Minicore m... |
OMIM:610687 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:616501 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... |
OMIM:613954 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Skeletal muscle atrophy |
OMIM:230650 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... |
OMIM:616866 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
| Mixed Connective Tissue Disease |
|
Gastritis, Skin rash, Myositis, Myocarditis, Arthritis, Keratoconjunctivitis sicca, Gastrointesti... |
ORPHA:809 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... |
OMIM:613426 |
| Pyoderma Gangrenosum |
|
Pustule, Rheumatoid arthritis, Myositis, Inflammation of the large intestine |
ORPHA:48104 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion, Generalized edema, Ascit... |
ORPHA:1041 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval... |
OMIM:610198 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Hip contracture, Proximal muscle weakness in lower limbs, Scoliosis, Lower limb amyotro... |
OMIM:615290 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... |
ORPHA:3208 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... |
ORPHA:444013 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Muscular dystrophy, Camptodactyly, Patent ductus arteriosus, Knee flexion contrac... |
OMIM:608799 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... |
OMIM:613327 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, Flexion contracture, Increased variability in muscle fiber di... |
OMIM:254090 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... |
ORPHA:40 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment eleva... |
ORPHA:263297 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy |
OMIM:609016 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... |
OMIM:239850 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... |
OMIM:167320 |
| Glycerol Kinase Deficiency |
|
Muscular dystrophy, Myopathy |
OMIM:307030 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... |
ORPHA:52430 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, Growth delay, Ascites |
ORPHA:2414 |
| Myasthenia Gravis |
|
Raynaud phenomenon, Rheumatoid arthritis, Myositis, Hepatitis, Hashimoto thyroiditis |
ORPHA:589 |
| Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... |
ORPHA:597 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Weakness of facial musculature, Increased variability in muscle fiber diameter, ... |
OMIM:619461 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Flexion contracture, Dilated cardiomyopathy, Portal hypertensio... |
ORPHA:367 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... |
OMIM:615474 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Skin rash, Peritonitis, Myositis, Erysipelas, Arthritis, Vasculitis, Uveitis, Fasciitis... |
ORPHA:32960 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Aspiration pneumonia, Left ventricular hypertrophy, Left ventricular non... |
OMIM:619167 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy |
ORPHA:70595 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Arthrogryposis m... |
OMIM:619334 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture |
OMIM:201470 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... |
ORPHA:555874 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... |
OMIM:616052 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:614299 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure |
OMIM:618234 |
| Brachyolmia Type 1, Hobaek Type |
|
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
| Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy |
OMIM:605637 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Optic neuritis, Scapular winging, Ragged-red muscle f... |
ORPHA:254886 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... |
OMIM:258450 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy |
ORPHA:324416 |
| Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... |
OMIM:615355 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of alpha-dystroglycan, Macroglossia, S... |
ORPHA:370959 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... |
ORPHA:251274 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Skeletal muscle hypertrophy, Abnormality of skeletal muscle fiber size, Hypertrophi... |
ORPHA:2348 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
| Behçet Disease |
|
Pancreatitis, Myocardial infarction, Increased inflammatory response, Abnormal myocardium morphol... |
ORPHA:117 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Mitral regurgitation, Dilated cardiomyopathy |
OMIM:212112 |
| Mcleod Syndrome |
|
Rhabdomyolysis, Dilated cardiomyopathy, Atrial fibrillation, Cardiomyopathy, Myopathy |
OMIM:300842 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
| Barth Syndrome |
|
Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic volume, Skeletal my... |
OMIM:302060 |
| Atrial Septal Defect, Ostium Primum Type |
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Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
| Lambert Syndrome |
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Ventricular septal defect, Intrauterine growth retardation, Aplasia/Hypoplasia of the cerebellum,... |
ORPHA:1296 |
| Scapuloperoneal Spinal Muscular Atrophy |
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Torticollis, Kyphosis, Amyoplasia, Scapular muscle atrophy, Peroneal muscle weakness, Progressive... |
OMIM:181405 |
| Naxos Disease |
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Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... |
OMIM:601214 |
| Pparg-Related Familial Partial Lipodystrophy |
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Pancreatitis, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormality of skeletal... |
ORPHA:79083 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
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Generalized limb muscle atrophy, Kyphosis, Scoliosis, Myopathy |
ORPHA:2598 |
| Neutral Lipid Storage Disease With Myopathy |
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Increased muscle lipid content, Cardiomyopathy, Myopathy |
OMIM:610717 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
| X-Linked Intellectual Disability, Hedera Type |
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Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
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Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Pyomyositis |
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Sudden cardiac death, Myositis, Recurrent cutaneous abscess formation |
ORPHA:764 |
| Duchenne Muscular Dystrophy |
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Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture |
ORPHA:98896 |
| Aortic Arch Interruption |
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Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Muscular dystrophy |
OMIM:615181 |
| Incessant Infant Ventricular Tachycardia |
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Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
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