| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
| Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Left atrial enlargement, Cardiomyopathy, Decreased muscle glycogen ... |
OMIM:611556 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... |
OMIM:612158 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... |
OMIM:115210 |
| 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 |
| Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| 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 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular hypertrop... |
OMIM:604169 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Cardiomyop... |
OMIM:609200 |
| 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 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... |
OMIM:608099 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
| Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Dysphagia... |
OMIM:601846 |
| 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 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
| Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
| Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... |
OMIM:612201 |
| Inclusion Body Myositis |
|
Dysphagia, Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Babinski sign, Abnormal pyramidal sign, Lower limb spasticity, Leg m... |
ORPHA:320360 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
| Scapuloperoneal Myopathy, Myh7-Related |
|
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy |
OMIM:181430 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
| Atrial Standstill |
|
Hemiplegia, Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Redu... |
ORPHA:1344 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
| 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 |
| Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
| Distal Nebulin Myopathy |
|
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foo... |
ORPHA:399103 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... |
OMIM:613874 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
| Loeffler Endocarditis |
|
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... |
ORPHA:75566 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy |
OMIM:255100 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Familial Dilated Cardiomyopathy |
|
Failure to thrive, Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral r... |
ORPHA:217607 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
EMG: myopathic abnormalities, Left ventricular hypertrophy, Heart murmur, Ragged-red muscle fiber... |
OMIM:615418 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Talipes equinovarus, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle ... |
OMIM:208100 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:611705 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy... |
ORPHA:1878 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... |
OMIM:300695 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Limb-girdle muscle weakness, F... |
ORPHA:98912 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... |
ORPHA:266 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal left ventricular function, Ataxia, Spastic paraparesis, Left ventricular hypertrophy, Ba... |
ORPHA:3208 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... |
ORPHA:85451 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy |
OMIM:618129 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Hyperkinetic movements, Truncal ataxia, Chorea, Exercise-induced muscle fatigue, Limb-girdle musc... |
ORPHA:369847 |
| Bethlem Myopathy 1 |
|
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... |
OMIM:158810 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Cardiomyopathy |
OMIM:613752 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Ventricular hypertrophy, Congestiv... |
OMIM:619048 |
| Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613876 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Talipes equinovarus, Flexi... |
OMIM:618484 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevation, Foot dorsiflexor we... |
ORPHA:263297 |
| Bethlem Myopathy 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Hip dislocation, Scapular wi... |
OMIM:616471 |
| Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Prolon... |
OMIM:619040 |
| Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
| 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 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Abnormal heart morphology |
OMIM:618250 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... |
OMIM:619566 |
| Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Myopathy, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
| Rigid Spine Muscular Dystrophy 1 |
|
Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Flexion contrac... |
OMIM:602771 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
| 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 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... |
OMIM:619477 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hypertonia, Bradycardia |
OMIM:614654 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy |
OMIM:300376 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... |
ORPHA:563 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity, Hypomimic face |
OMIM:608443 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Distal Myotilinopathy |
|
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Abnormal muscle fib... |
ORPHA:98911 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
| Multiminicore Myopathy |
|
Failure to thrive, Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Min... |
ORPHA:598 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Congenital ... |
OMIM:255310 |
| Myopathy With Giant Abnormal Mitochondria |
|
Limb-girdle muscle atrophy, Myopathy |
OMIM:255140 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dysmetria, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyo... |
OMIM:619903 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... |
ORPHA:437572 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy |
OMIM:612999 |
| Pleoconial Myopathy With Salt Craving |
|
Salt craving, Myopathy, Proximal amyotrophy |
OMIM:262900 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Neuromuscular dysphagia, Flexion contracture, EMG: myopathic abnormalities, Incr... |
ORPHA:171442 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal amyotrophy |
OMIM:606768 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Failure to thrive, Myopathy |
OMIM:618246 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Failure to thrive, EMG: myopathic abnormalities, Minicore myopathy, ... |
ORPHA:424107 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Dysphagia, Generalized amyotrophy, Flexion contracture |
OMIM:618323 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia, Cardiomyopathy |
OMIM:208750 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy, Increased muscle fatiguability |
OMIM:615511 |
| Myopathy, Spheroid Body |
|
Dysphagia, Skeletal muscle atrophy, Myopathy, Proximal amyotrophy |
OMIM:182920 |
| Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Shoulder gir... |
OMIM:609284 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, ... |
OMIM:611615 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:612937 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... |
ORPHA:860 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... |
OMIM:300580 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Talipes equinovarus, Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic... |
OMIM:619216 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy, Slurred speech |
OMIM:618855 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
| Marinesco-Sjogren Syndrome |
|
Failure to thrive, Coxa valga, Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal... |
OMIM:248800 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
| X-Linked Intellectual Disability, Hedera Type |
|
Action tremor, Extrapyramidal muscular rigidity, Dysmetria, Left ventricular hypertrophy, Babinsk... |
ORPHA:93952 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Abnormality of the calf musculatu... |
ORPHA:399081 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
| Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
| Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Tall stature, Scapular winging, Joint contracture of the 5th finger, Limb muscle... |
OMIM:617258 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... |
OMIM:255160 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... |
ORPHA:596 |
| Myopathy, Centronuclear, 2 |
|
Talipes equinovarus, Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial ... |
OMIM:255200 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
| Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... |
OMIM:605355 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| 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 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Exercise-induced muscle fatigue, Arrhythmia, Increased intramyocellular lipid dropl... |
ORPHA:26791 |
| Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
| Cardiomyopathy, familial hypertrophic, 19 |
|
Asymmetric septal hypertrophy |
OMIM:613875 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Distal amyotrophy, Tremor, Fasciculations, Proximal amyotrophy |
OMIM:182980 |
| Nemaline Myopathy 2 |
|
Slender build, Nemaline bodies, Hand clenching, Flexion contracture, Weakness of facial musculatu... |
OMIM:256030 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Talipes equinovarus, Type 1 muscle fiber predominance, Facial palsy |
ORPHA:178145 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Nemaline Myopathy 8 |
|
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Dysphagia, Facial palsy |
OMIM:615348 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
| Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Spinal muscular atrophy, Tremor, Fasciculations, Skeletal muscle atrophy |
OMIM:615048 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Respiratory paralysis, Periodic hypokalemic paresis, Increased ... |
ORPHA:681 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Flexion contracture, Small for gestational age |
OMIM:616733 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
| Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... |
OMIM:160500 |
| Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Diaphragmatic paralysis |
ORPHA:868 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy |
OMIM:607091 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Increased muscle lipid content, Fasciculations, Cardiomyopathy, Myopathy |
OMIM:610717 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
| Myasthenic Syndrome, Congenital, 5 |
|
Type 2 muscle fiber atrophy, Limb muscle weakness, Dysphagia, Decreased muscle mass, Myopathy |
OMIM:603034 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Failure to thrive |
OMIM:616974 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... |
ORPHA:2041 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture |
OMIM:609308 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Babi... |
ORPHA:263494 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
| Adenosine Monophosphate Deaminase Deficiency |
|
Exercise-induced muscle fatigue, Limb muscle weakness |
ORPHA:45 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Abnormality of the epiphyses of the feet, Genu varum, Arthra... |
ORPHA:166002 |
| 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 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Hypertonia, Ataxia, Left ventricular hypertrophy, Spastic diplegia, Babinski sign, Myoclonus, Spa... |
ORPHA:401866 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Tetraparesis, Dilat... |
OMIM:616827 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy |
OMIM:605637 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Slender build, Neuromuscular dysphagia, Flexion contracture, EM... |
ORPHA:171439 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... |
OMIM:614954 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Ataxia, Intention tremor, Left ventricular hypertrophy, Truncal ataxia, Gait ataxia, Spasticity, ... |
OMIM:614458 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| 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 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Failure to thrive, Right ventricular hypertrophy, Left ventricula... |
ORPHA:444013 |
| Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Diaphragmatic paralysis,... |
OMIM:612954 |
| Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... |
ORPHA:178400 |
| Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Facial palsy, Myopathy |
OMIM:253320 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
| Heart-Hand Syndrome, Slovenian Type |
|
Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly, Clinodactyly, Myopathy |
OMIM:610140 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... |
OMIM:613255 |
| Nemaline Myopathy 7 |
|
Nemaline bodies, Weakness of facial musculature, Minicore myopathy, Fatty replacement of skeletal... |
OMIM:610687 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Slender fi... |
ORPHA:75840 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
| Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Talipes equi... |
ORPHA:597 |
| Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, EMG: myopathic abnormalities, Myocardial nec... |
OMIM:300257 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... |
ORPHA:300751 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... |
OMIM:617336 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Dysphagia, Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy |
OMIM:605809 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... |
OMIM:617072 |
| Noonan Syndrome 8 |
|
Failure to thrive, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral ... |
OMIM:615355 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Failure to thrive, Hypertonia |
OMIM:617228 |
| Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy, Myo... |
OMIM:205400 |
| Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... |
ORPHA:57777 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... |
OMIM:603511 |
| King-Denborough Syndrome |
|
Failure to thrive, Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type ... |
OMIM:619542 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... |
ORPHA:280333 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure |
OMIM:618234 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Cardiomyopathy |
OMIM:619647 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ataxia, Hepatomegaly, Tricuspid regurgitation, Left ventricular hypertrophy, Left ventricular non... |
OMIM:619167 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Cardiomyopathy, Tremor |
OMIM:619651 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Talipes equinovarus, Left ventricular hypertrophy, Facial palsy... |
ORPHA:169186 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Myofibrillar myopathy, Autophagic vacuoles, Muscle fiber splitting,... |
OMIM:609452 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Dysphagia, Clubbing of fingers, Central... |
OMIM:619574 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... |
ORPHA:3093 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Failure to thrive, Flexion contracture, Facial palsy, Cardiomyopathy, Myopathy |
OMIM:201470 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Left ventricular hypertrophy, Mitral regurgitation, Babinski sign, Arrhy... |
ORPHA:746 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Macroglossia, Flexion contracture, Muscular dystrophy, Congen... |
OMIM:613155 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
| Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
| Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Lower limb amyotrophy, Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intri... |
OMIM:615575 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Fasciculations, Skeletal muscle atrophy |
ORPHA:85162 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy |
OMIM:615352 |
| Stormorken Syndrome |
|
Epistaxis, Myopathy, Increased muscle fatiguability |
OMIM:185070 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... |
OMIM:618052 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, Failure to thrive, Talipes equinovarus, EMG: myopathic abnormalities, Diap... |
OMIM:614399 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Flexion contracture, Left ventricular noncompaction, Myoclonus, Babinski sign, Truncal at... |
OMIM:252011 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Increased muscle glycogen content, Tachycardia, ... |
ORPHA:368 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
| Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Exercise-induced muscle fatigue, Respiratory paralysis, Palpita... |
ORPHA:79102 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... |
OMIM:619424 |
| Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Dysphagia,... |
OMIM:606070 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Skeletal muscle autophagosome accumulation, Failure to thrive, Rimmed vacuoles, Centrally nucleat... |
OMIM:619518 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
| Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
| Congenital Fibrinogen Deficiency |
|
Opisthotonus, Right ventricular hypertrophy, Left ventricular hypertrophy, Tachycardia, Internal ... |
ORPHA:335 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
ORPHA:254864 |
| Leber Hereditary Optic Neuropathy |
|
Ataxia, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Postural tremor, Myopathy |
ORPHA:104 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... |
OMIM:612124 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Palpitations, Tachycardia, Syncope, Large for gestational age, Hypertrophic cardiom... |
ORPHA:276556 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ataxia, Abnormal pyramidal sign, Incoordination, Ventricular sept... |
OMIM:614947 |
| Rigid Spine Syndrome |
|
Hamstring contractures, Hip contracture, Elbow flexion contracture, Skeletal muscle atrophy, Myop... |
ORPHA:97244 |
| Pure Mitochondrial Myopathy |
|
Exercise-induced muscle fatigue, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Frequ... |
ORPHA:254854 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Myopathy, Facial palsy, Skeletal muscle atrophy, Flexion contracture |
OMIM:616313 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Failure to thrive, Hepatomegaly, Macroglossia, Left ventricular outflow tract obstruction, Left v... |
ORPHA:308552 |
| Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
| Fabry Disease |
|
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Fasciculations, Myocardial infarction,... |
OMIM:301500 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Slender build, Multiple joint contractures, Limb-girdle muscle weakness, Myopathy |
ORPHA:352470 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Left ventricular hypertrophy, Cerebral palsy, Athetosis, Ventricular septal defect, Biventricular... |
OMIM:615474 |
| Anal Sphincter Myopathy, Internal |
|
Myopathy |
OMIM:105565 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Distal amyotrophy, Frequent falls, Tremor, Gait ataxia, Spastic... |
OMIM:607317 |
| Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Dysphagia, Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Ataxia, Gait ataxia, Myopathy, Increased muscle fatiguability |
OMIM:613077 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... |
OMIM:609285 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Left ventricular outf... |
OMIM:619402 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Cardiomyopathy, Myopathy, Hypertonia |
ORPHA:26792 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Ataxia, Parkinsonism with favorable response to dopam... |
ORPHA:254886 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... |
OMIM:611307 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Palpitations, Tachycardia, Syncope, Large for gestational age, Hypertrophic cardiom... |
ORPHA:276575 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
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Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ventricular tachyca... |
OMIM:212138 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Flexion contracture, Tachycardia, Ventricular septal defect, Patent ductus ... |
OMIM:613870 |
| Nemaline Myopathy 3 |
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Slender build, Nemaline bodies, Hypertonia, EMG: myopathic abnormalities, Rigidity, Type 1 muscle... |
OMIM:161800 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... |
OMIM:615770 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hepatomegaly, Palpitations, Tachycardia, Syncope, Large for gestational age, Hypertrophic cardiom... |
ORPHA:276580 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture, Small fo... |
OMIM:615368 |
| Atrial Standstill 1 |
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Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Snakebite Envenomation |
|
Muscle fiber necrosis, Pseudobulbar paralysis, Respiratory paralysis, Intracranial hemorrhage, Ta... |
ORPHA:449285 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Hepatomegaly, Small for gestational age, Tachycardia, Exercise-induced rhab... |
ORPHA:26793 |
| Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
| Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
| 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 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... |
OMIM:310300 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Weakness of facial musculature, Abnormal pyramidal sign, Limb dysmetria, Abnormal atrioventricula... |
ORPHA:329336 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Ataxia, Quadriceps muscle weakness, Tremor, Cogwheel rigidity, Reduced left vent... |
ORPHA:254892 |
| Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Tall stature, Proportionate tall stature |
ORPHA:99725 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98855 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... |
ORPHA:99105 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Distal amyotrophy, Ventricular hypertrophy, Cardiomyopathy, Myopathy |
OMIM:232400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Limb hypertonia, Myoclonus, Facial myokymia, Chorea, Dilated cardiomyopathy, Cong... |
ORPHA:324588 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... |
ORPHA:370980 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Hip contracture, Ankle flexion contracture, Flexion contracture, Fasciculations, Lower limb muscl... |
ORPHA:1143 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Flexion contracture, Spastic tetraplegia, Hypertrophic cardiomyopathy, Myopathy |
OMIM:618237 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Atrioventricular block, Left bundle branch block, Myofiber disarray, Co... |
OMIM:115197 |
| Spinal Muscular Atrophy, Type Iii |
|
Hand tremor, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Limb fasciculations, Lower ... |
OMIM:253400 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block |
OMIM:192605 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertonia, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Opisthotonus |
OMIM:616896 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Failure to thrive, Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Inc... |
OMIM:500009 |
| Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture |
ORPHA:98896 |
| Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... |
ORPHA:98902 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Skeletal muscle atrophy |
OMIM:613402 |
| Myopathy And Diabetes Mellitus |
|
Weakness of facial musculature, Pelvic girdle muscle weakness, Weakness of orbicularis oculi musc... |
ORPHA:2596 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy |
ORPHA:369840 |
| Trimethylaminuria |
|
Hypertension, Tachycardia, Splenomegaly |
OMIM:602079 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis, Palpitations, Tachycardia, Rhabdomyolysis, Weight loss |
OMIM:188580 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... |
OMIM:618138 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter, Failur... |
OMIM:619065 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypertonia, Tachycardia, Hemiparesis, Lower limb muscle weakness, Tremor, Obesity |
OMIM:619737 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98863 |
| Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Tremor, Rhabdomyolysis, Exercise-induced muscle fatigue, Myopathy |
ORPHA:713 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Paraspinal muscle hypertrophy, Congenital foot contractures, Narrow pelvis bone,... |
OMIM:602484 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:2364 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Respiratory paralysis, Splenomegaly, Tachycardia, Hypertension |
OMIM:121300 |
| Adducted Thumbs Syndrome |
|
Myopathy, Dysphagia, Arthrogryposis multiplex congenita |
OMIM:201550 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... |
OMIM:616052 |
| 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 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy, Disproportionate tall stature |
ORPHA:300179 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
| Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Cardiomyopathy, Dilated, 1S |
|
