Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:613530 |
Vacuolar Neuromyopathy |
|
Distal muscle weakness, Muscular dystrophy, Rimmed vacuoles, Elevated circulating creatine kinase... |
OMIM:601846 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Muscular dystrophy, limb-girdle, type 2R |
|
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy |
OMIM:615325 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula... |
OMIM:617072 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Shoulder girdle muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concent... |
OMIM:310095 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Miyoshi Muscular Dystrophy 1 |
|
Distal muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentration, L... |
OMIM:254130 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Gowers sign, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakne... |
OMIM:254110 |
Myopathy, Myofibrillar, 2 |
|
Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdl... |
OMIM:608810 |
Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... |
OMIM:616199 |
Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
Miyoshi Muscular Dystrophy 3 |
|
Calf muscle hypertrophy, Muscular dystrophy, Quadriceps muscle atrophy, Elevated circulating crea... |
OMIM:613319 |
Tibial Muscular Dystrophy |
|
Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myopathic abnorm... |
ORPHA:609 |
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 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulati... |
OMIM:604286 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Distal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating cr... |
OMIM:608807 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... |
OMIM:611307 |
Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
Myopathy, Myofibrillar, 3 |
|
Myalgia, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Distal amyotr... |
OMIM:609200 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... |
OMIM:618655 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Mildly elevated creatine k... |
OMIM:609456 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... |
OMIM:612998 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Gowers sign, Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concen... |
OMIM:613723 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Muscular dystrophy, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:253600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Failure to thrive, Respiratory insufficiency due to muscle weakness, Flexion contracture, Elevate... |
OMIM:613205 |
Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content, Elevated circulating creatine kinase concentration |
OMIM:612932 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Mildly elevated creatine kinase, Faci... |
OMIM:617030 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal muscle weakness, Elevated circulating creat... |
OMIM:605820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Gowers sign, Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase co... |
OMIM:601287 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, Late-onset proximal muscle weakness, EMG: myopathic abnormalities,... |
OMIM:610099 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Gowers sign, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Limb-girdle muscle weak... |
OMIM:613818 |
Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding, Skeletal muscle hypertrophy |
OMIM:600332 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Welander Distal Myopathy |
|
Distal muscle weakness, Rimmed vacuoles, Mildly elevated creatine kinase, Distal amyotrophy |
OMIM:604454 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentratio... |
OMIM:609115 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Mildly elevated cr... |
OMIM:608358 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscle fiber atrophy, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Myosit... |
OMIM:615422 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Respiratory insufficiency due to muscle weakness, Distal upper limb muscle weakness, Proximal mus... |
OMIM:301075 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Elevated circulati... |
ORPHA:611 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
Muscular Dystrophy, Scapulohumeral |
|
Scapulohumeral muscular dystrophy |
OMIM:600416 |
Gne Myopathy |
|
Mildly elevated creatine kinase, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variabi... |
ORPHA:602 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Muscle weakness, Gowers sign |
OMIM:616094 |
Myotonia Congenita, Autosomal Dominant |
|
Myotonia with warm-up phenomenon, Skeletal muscle hypertrophy, Percussion myotonia, Handgrip myot... |
OMIM:160800 |
Muscular Dystrophy, Hemizygous Lethal Type |
|
Limb-girdle muscular dystrophy |
OMIM:309950 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Beevor's sign, Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness... |
OMIM:158901 |
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-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Generalized muscle weakness |
OMIM:613152 |
Myofibrillar Myopathy 11 |
|
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... |
OMIM:619178 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... |
OMIM:613204 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Gowers sign, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:603511 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly elevated cre... |
ORPHA:603 |
Dpm3-Cdg |
|
Elevated creatine kinase after exercise, Calf muscle hypertrophy, Muscular dystrophy, Pelvic gird... |
ORPHA:263494 |
Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... |
OMIM:300717 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrat... |
OMIM:609500 |
Rippling Muscle Disease 2 |
|
Abnormal skeletal muscle morphology, Percussion-induced rapid rolling muscle contractions, Muscle... |
OMIM:606072 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
Muscular Dystrophy, Congenital, 1B |
|
Gowers sign, Generalized muscle hypertrophy, Pectoralis amyotrophy, Diaphragmatic weakness, Eleva... |
OMIM:604801 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration,... |
OMIM:611705 |
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, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... |
OMIM:613158 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Weakness of facial musculature, Fatigue, Proximal muscle weakness, Shoul... |
OMIM:619477 |
Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Mildly elevated creatine kinase, Distal upper limb amyotroph... |
OMIM:614065 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Short stature, Proximal muscle weakness in lower limbs, Elevated circulating creatine kinase conc... |
OMIM:616209 |
Mitochondrial Myopathy With Diabetes |
|
Type II diabetes mellitus, Exercise intolerance, EMG: myopathic abnormalities, Elevated circulati... |
OMIM:500002 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... |
ORPHA:267 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Short stature, Proximal muscle weakness in lower limbs, Weakness of facial musculature, Neck flex... |
ORPHA:457050 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Abdominal pain, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increas... |
ORPHA:86812 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Proximal muscle weakness in lower limbs, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:617232 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the face, Facial muscle hypertrophy, Paradoxical myotonia, Cold-sensitive myotonia, E... |
ORPHA:684 |
Myopathy, Myofibrillar, 5 |
|
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Muscle fiber splitting... |
OMIM:609524 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy, Exercise intolerance |
OMIM:609273 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... |
OMIM:608099 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Myalgia, Back pain, Elevated circulating creatine kinase concentration, Muscle fiber splitting, S... |
OMIM:618129 |
Multiminicore Myopathy |
|
Failure to thrive, Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morpho... |
ORPHA:598 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia, Skeletal muscle atrophy |
OMIM:254950 |
Myotonia Congenita, Autosomal Recessive |
|
Myotonia with warm-up phenomenon, Skeletal muscle hypertrophy, Myotonia, Muscle hypertrophy of th... |
OMIM:255700 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... |
ORPHA:399058 |
Cardiomyopathy, Dilated, 1X |
|
Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Elevated ci... |
OMIM:611615 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Elevated circulating creatine kinase... |
OMIM:607855 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Exercise intolerance, Muscular dystrophy, Elevated circu... |
OMIM:615352 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... |
OMIM:612999 |
Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Muscle weakness, Calf mus... |
OMIM:300376 |
Danon Disease |
|
Myocardial fibrosis, Exercise intolerance, Myocardial necrosis, EMG: myopathic abnormalities, Ele... |
OMIM:300257 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Gowers sign, Muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle ... |
ORPHA:62 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Distal muscle weakness, Inc... |
ORPHA:266 |
Rigid Spine Muscular Dystrophy 1 |
|
Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Poor head contr... |
OMIM:602771 |
Muscular Dystrophy, Barnes Type |
|
Myotonia, Myopathy, Muscular dystrophy |
OMIM:158800 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Gowers sign, Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hyp... |
OMIM:613157 |
Myositis |
|
Myositis, Proximal muscle weakness |
OMIM:160750 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Muscle weakness, Myositis |
ORPHA:48918 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Tall stature, Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diam... |
ORPHA:1878 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Elevated circulating creatine k... |
ORPHA:565899 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Gowers sign, Muscular dystrophy, Elevated circulating creatine kinase concentration, Congenital m... |
OMIM:602541 |
Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creatine kinase concentrat... |
OMIM:612954 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Muscular dystrophy, Elevated circulating creatine kinase... |
OMIM:616516 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Flexion contracture, Elevated circulating creatine kinase concentration, Scapuloperoneal myopathy... |
OMIM:300695 |
Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... |
ORPHA:178400 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy, Muscle weakness |
OMIM:253590 |
Inclusion Body Myositis |
|
Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness |
OMIM:147421 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration, Limb... |
OMIM:609308 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Back pain, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rim... |
OMIM:300696 |
Scapuloperoneal Myopathy, Myh7-Related |
|
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy |
OMIM:181430 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration, Myopathy |
ORPHA:88635 |
Bethlem Myopathy 1 |
|
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elevated circulating creatine ... |
OMIM:158810 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Elevated circulatin... |
OMIM:616827 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Short stature, Distal muscle weakness, Increased variability in muscle fiber dia... |
OMIM:619042 |
Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Skin rash, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EM... |
ORPHA:206569 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Calf muscle hypertrophy, Gowers sign, Elevated circulating creatine kinase concentration, Proxima... |
OMIM:618135 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... |
OMIM:302045 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:309930 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Poor head control, EMG: myopathic abnormalities, Minicore myopathy, ... |
ORPHA:486815 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Muscle weakness |
OMIM:614807 |
Carnitine Deficiency, Myopathic |
|
Decreased plasma carnitine, Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Gowers sign, Increased endomysial connective tissue, Flexion contracture, ... |
OMIM:253700 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Gowers sign, Flexion contracture of finger, Increased endomysial connective tissue, Flexion contr... |
OMIM:618484 |
Myopathy, Distal, Tateyama Type |
|
Calf muscle hypertrophy, Neck muscle weakness, Elevated circulating creatine kinase concentration |
OMIM:614321 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... |
OMIM:612937 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Fourth heart sound, Congestive heart failure, Right axis deviation, Sinus tachycardia, EMG: myopa... |
OMIM:255160 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased endomysial connective tissue, Flexion contracture of finger, Proximal muscle weakness i... |
ORPHA:206549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
Miyoshi Myopathy |
|
Triceps weakness, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Quadriceps mu... |
ORPHA:45448 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Elevated circulating creatine kinase concentration, Myopathy, Distal amyotrophy |
OMIM:606768 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Myalgia, EMG: myopathic abnormalities, ... |
ORPHA:370980 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal muscle weakness, Distal amyotrophy, Muscle weakness, Mildly elevated creatine kinase, Skel... |
OMIM:614369 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Neck muscle weakness, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory... |
OMIM:617066 |
Bethlem Myopathy 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... |
OMIM:616471 |
Myopathy, Distal, Infantile-Onset |
|
Distal muscle weakness, Calf muscle hypertrophy, Elevated circulating creatine kinase concentrati... |
OMIM:160300 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Fatty replacement of sk... |
OMIM:255100 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Abnormality of the calf musculatu... |
ORPHA:399081 |
Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Hypoglycosylation of alph... |
OMIM:615350 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion contracture |
OMIM:613869 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... |
ORPHA:437572 |
Paramyotonia Congenita Of Von Eulenburg |
|
Percussion myotonia, Paradoxical myotonia, Handgrip myotonia, Skeletal muscle hypertrophy |
OMIM:168300 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Elevated circulating creatine kinase concentration, Myopathy |
OMIM:607091 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98855 |
Creatine Phosphokinase, Elevated Serum |
|
Myalgia, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Elev... |
OMIM:123320 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Myalgia, Flexion contracture, EMG: myopathic abnormalities, Increased variabilit... |
ORPHA:171442 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase conce... |
OMIM:613155 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Proximal mu... |
OMIM:255310 |
Brody Disease |
|
Myotonia, Percussion myotonia, Flexion contracture, Skeletal muscle hypertrophy |
OMIM:601003 |
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 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Elevated circulating creatine kinase concentra... |
ORPHA:270 |
Myopathy, Distal, 1 |
|
Myalgia, Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Elevated circ... |
OMIM:160500 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Gowers sign, Calf muscle hypertrophy, Elevated circulati... |
ORPHA:280333 |
Mitochondrial Myopathy, Infantile, Transient |
|
Failure to thrive, Increased muscle glycogen content, Macroglossia, Increased serum pyruvate, Ele... |
OMIM:500009 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... |
OMIM:618963 |
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 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Increased serum pyruvate, Myopathy |
OMIM:545000 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Exercise-induced myalgia, Increased variability... |
OMIM:160565 |
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 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98853 |
Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Broad-based gait, Increased endomysial connective tissue, Macroglossia, Right ventricular hypertr... |
ORPHA:353 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
|
Skeletal muscle atrophy, Muscle weakness, Foot dorsiflexor weakness, Spinal muscular atrophy |
OMIM:614881 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myalgia, Muscle fiber atrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentra... |
ORPHA:369840 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Beevor's sign, Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Elev... |
OMIM:158900 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia, Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Gowers sign, Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Elevated circu... |
OMIM:611588 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ba... |
OMIM:616924 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:208100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Muscular dystrophy |
OMIM:615041 |
Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... |
ORPHA:300751 |
Myopathy, Centronuclear, 2 |
|
Respiratory insufficiency due to muscle weakness, Gowers sign, Flexion contracture, EMG: myopathi... |
OMIM:255200 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
Bethlem Myopathy |
|
Multiple joint contractures, Quadriceps muscle weakness, Achilles tendon contracture, Flexion con... |
ORPHA:610 |
Myopathy, Spheroid Body |
|
Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, Myopathy, Proximal a... |
OMIM:182920 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Short stature, Skeletal muscle autophagosome accumulation, Rimmed vacuoles, El... |
OMIM:619518 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Diaphragmatic weakness, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... |
OMIM:603689 |
Distal Nebulin Myopathy |
|
Slender build, Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:399103 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness |
OMIM:614750 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, ... |
OMIM:615980 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Hip pain, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pel... |
OMIM:167320 |
Myopathy With Giant Abnormal Mitochondria |
|
Limb-girdle muscle atrophy, Myopathy |
OMIM:255140 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Distal Myotilinopathy |
|
Multiple joint contractures, EMG: myopathic abnormalities, Elevated circulating creatine kinase c... |
ORPHA:98911 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Proximal Myopathy With Extrapyramidal Signs |
|
Mildly elevated creatine kinase, Increased variability in muscle fiber diameter, Proximal muscle ... |
ORPHA:401768 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... |
ORPHA:178145 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... |
OMIM:601493 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Poor head control, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrop... |
OMIM:615351 |
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Quadriceps muscle atrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculatur... |
ORPHA:482601 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, Pr... |
ORPHA:399086 |
Nathalie Syndrome |
|
Abnormal EKG, Skeletal muscle atrophy |
OMIM:255990 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
Adenosine Monophosphate Deaminase Deficiency |
|
Myalgia, Exercise-induced myalgia, Limb muscle weakness, Exercise-induced muscle fatigue |
ORPHA:45 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Elevated circulat... |
OMIM:616052 |
King-Denborough Syndrome |
|
Muscle fiber atrophy, Cryptorchidism, Weakness of facial musculature, Minicore myopathy, Exercise... |
OMIM:619542 |
Neuronopathy, Distal Hereditary Motor, Type Va |
|
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... |
OMIM:600794 |
Neutral Lipid Storage Disease With Myopathy |
|
Myalgia, Exercise intolerance, Elevated circulating creatine kinase concentration, Increased musc... |
OMIM:610717 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Dilated cardiomyo... |
OMIM:300580 |
Myopathy, Myofibrillar, 4 |
|
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Elevated circulating creatine... |
OMIM:609452 |
Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... |
ORPHA:597 |
Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Gowers sign, Tall stature, Scapular winging, Elevated circulating creatine kinas... |
OMIM:617258 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Hyperalaninemia, Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Neonatal hypotonia, Severe muscular hypotonia, Weakness of facia... |
ORPHA:596 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Ataxia, Exercise intolerance, Fatigue, Gait ataxia, Increased muscle fatiguability, Myopathy |
OMIM:613077 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Congenital muscular dystrophy, Muscular dystrophy, Elevated circulating creatine kinase concentra... |
OMIM:613151 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Progressive external ophthalmoplegia, Ragged-red musc... |
OMIM:609283 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Intrinsic hand muscle atrophy, Loss of ambulation, Flexion contracture, Weakness of long finger e... |
ORPHA:324442 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cryptorchidism, Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular ... |
OMIM:613156 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy |
OMIM:614302 |
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Facial palsy, Myopathy |
OMIM:253320 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Growth delay, Gowers sign, Short stature, Proximal muscle weakness in lower limbs, Abnormal circu... |
ORPHA:171706 |
Nemaline Myopathy 2 |
|
Weakness of facial musculature, Increased variability in muscle fiber diameter, Neck flexor weakn... |
OMIM:256030 |
Autosomal Dominant Centronuclear Myopathy |
|
Cryptorchidism, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic ... |
ORPHA:169189 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Distal muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles, Increased connective tissue, Pr... |
OMIM:617760 |
Benign Samaritan Congenital Myopathy |
|
Frog-leg posture, Centrally nucleated skeletal muscle fibers, Generalized hypotonia, Internally n... |
ORPHA:324581 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... |
OMIM:601472 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Myalgia, Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormaliti... |
OMIM:619216 |
Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:617222 |
Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Distal sensory impai... |
OMIM:615048 |
Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Distal muscle weakness, Rimmed vacuoles, Increased variability in muscle fi... |
OMIM:606070 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Sternocleidoma... |
ORPHA:98905 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion contracture |
OMIM:613154 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Paraspinal muscle hypertrophy, Congenital foot contractures, Knee flexion contra... |
OMIM:602484 |
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Scapular winging, Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower... |
ORPHA:219 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Infantile axial hypotonia, Developmental cataract, Abnormal muscle fiber protein expression, Hypo... |
ORPHA:330054 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Proximal muscle weakness in lower limbs, Myotonia, Skeletal muscle atrophy, ... |
OMIM:310440 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Exercise intolerance, EMG: myopathic abnor... |
ORPHA:171439 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs... |
OMIM:618138 |
Marinesco-Sjogren Syndrome |
|
Flexion contracture, Hypergonadotropic hypogonadism, Rimmed vacuoles, Elevated circulating creati... |
OMIM:248800 |
Laing Early-Onset Distal Myopathy |
|
Myalgia, Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopa... |
ORPHA:59135 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
Hypertrophia Musculorum Vera |
|
Calf muscle hypertrophy |
OMIM:145800 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Myasthenic Syndrome, Congenital, 14 |
|
Gowers sign, Flexion contracture, Limb-girdle muscle weakness, Fatigable weakness, Ragged-red mus... |
OMIM:616228 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Generalized amyotrophy, Flexion contracture |
OMIM:618323 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
ORPHA:254864 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Cellulitis, Hepatosplenomegaly, Thrombocyt... |
OMIM:604416 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Distal lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:615025 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Elevated aldolase level, Type 2 muscle fiber atrophy, Arrhythmia, Myositis, Lower l... |
ORPHA:99845 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity, Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscular atrophy |
ORPHA:459033 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Distal muscle weakness, Muscle fiber inclusion bodies, Proximal muscle weakness, Neck muscle weak... |
OMIM:605637 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Increased serum pyruvate |
OMIM:300816 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Subcapsular cataract, Decreased nerve conduction velocity, Distal amyotrophy, Optic atrophy, Cata... |
OMIM:612674 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Exercise-induced myalgia, Rhabdomyolysis, Increased muscle fatiguability, Skeletal muscle atrophy... |
OMIM:615511 |
Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fib... |
ORPHA:663 |
Acetazolamide-Responsive Myotonia |
|
Myalgia, Skeletal muscle hypertrophy, Gait disturbance, Chest pain, Myotonia |
ORPHA:99736 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Myopathy |
ORPHA:154 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... |
ORPHA:424107 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Multiple joint contractures, Skeletal muscle atrophy, Flexion contracture |
OMIM:614915 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Cryptorchidism, Elevated circulating creatine kinase concentration, My... |
ORPHA:408 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... |
ORPHA:272 |
Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Myalgia, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, ... |
OMIM:606612 |
Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Myopathy |
ORPHA:366 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy, Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Nemaline Myopathy 7 |
|
Nemaline bodies, Weakness of facial musculature, Minicore myopathy, Fatty replacement of skeletal... |
OMIM:610687 |
Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Type II diabetes mellitus, Myopathy |
ORPHA:2579 |
Pleoconial Myopathy With Salt Craving |
|
Myopathy, Proximal amyotrophy |
OMIM:262900 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Progressive external ... |
OMIM:617070 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... |
OMIM:310300 |
Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Shoulder gir... |
OMIM:609284 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
Spastic Paraplegia 38, Autosomal Dominant |
|
Thenar muscle weakness, Lower limb muscle weakness, Distal amyotrophy, Thenar muscle atrophy, Fir... |
OMIM:612335 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Distal amyotrophy, Tremor, Gait ataxia |
OMIM:617018 |
Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
Spinal muscular atrophy, Distal amyotrophy |
OMIM:300489 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
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Myopathy |
OMIM:613076 |
Spermatogenic Failure 20 |
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Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Cardiomyopathy, Dilated, 2G |
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Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Macular Degeneration, Age-Related, 6 |
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Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
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Macular degeneration |
OMIM:600977 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Multiple joint contractures, Myalgia, Elevated creatine kinase after exercise, Limb-girdle muscle... |
ORPHA:352470 |
Macular Degeneration, Age-Related, 15 |
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Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
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Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
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Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
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Macular degeneration |
OMIM:153800 |
Nemaline Myopathy 4 |
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Facial diplegia, Nemaline bodies, Flexion contracture, Generalized hypotonia, Type 1 muscle fiber... |
OMIM:609285 |
Charcot-Marie-Tooth Disease, Axonal, Type 2U |
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Hand muscle weakness, Hand muscle atrophy, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:616280 |
Lethal Congenital Contracture Syndrome 5 |
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Flexion contracture, Small for gestational age, Elevated circulating creatine kinase concentratio... |
OMIM:615368 |
Fingerprint Body Myopathy |
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Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
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Myopathy |
OMIM:255300 |
Neuropathy, Painful |
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Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:256870 |
Proximal Myotonic Myopathy |
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Myotonia |
ORPHA:606 |
Ullrich Congenital Muscular Dystrophy 2 |
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Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... |
OMIM:616470 |
Nemaline Myopathy 5 |
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Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... |
OMIM:605355 |
Myofibrillar Myopathy 10 |
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Myalgia, Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertroph... |
OMIM:619040 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
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Muscle fiber necrosis, Failure to thrive, Poor head control, Diaphragmatic weakness, EMG: myopath... |
OMIM:614399 |
Spermatogenic Failure 72 |
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Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Charcot-Marie-Tooth Disease Type 1B |
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Skeletal muscle atrophy, Decreased nerve conduction velocity, Abnormal pupil morphology, Skeletal... |
ORPHA:101082 |
Classic Multiminicore Myopathy |
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Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Poor head control, Right ve... |
ORPHA:324604 |
Autosomal Recessive Progressive External Ophthalmoplegia |
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Hand muscle weakness, Muscle fiber atrophy, Exercise intolerance, Scapular winging, Elevated circ... |
ORPHA:254886 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
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Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... |
OMIM:226670 |
Ullrich Congenital Muscular Dystrophy 1 |
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Torticollis, Muscle fiber necrosis, Slender build, Failure to thrive, Respiratory insufficiency d... |
OMIM:254090 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
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Bundle branch block, Arrhythmia |
ORPHA:1479 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
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Firm muscles, Myotonia, Skeletal muscle hypertrophy |
OMIM:255710 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Exercise intolerance, Hypergonadotropic hypogonadism, Weakness of facial musculature, Elevated ci... |
ORPHA:352447 |
Spermatogenic Failure 46 |
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Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
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Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity, Skeletal muscle atrophy |
OMIM:611105 |
Myasthenic Syndrome, Congenital, 5 |
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Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy |
OMIM:603034 |
Hemoglobin D Disease |
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Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Autosomal Recessive Centronuclear Myopathy |
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Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... |
ORPHA:169186 |
Myotonia, Potassium-Aggravated |
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Myotonia, Skeletal muscle hypertrophy |
OMIM:608390 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
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Muscular dystrophy |
OMIM:614830 |
Hereditary Continuous Muscle Fiber Activity |
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Type 1 muscle fiber predominance, Elevated circulating creatine kinase concentration, Congenital ... |
ORPHA:972 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
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Inguinal hernia, Dysmetria, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, ... |
OMIM:619903 |
Cardiomyopathy, Dilated, 1Bb |
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Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
Myotonia Permanens |
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Myalgia, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Gait disturbance, Chest pai... |
ORPHA:99735 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
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Intrinsic hand muscle atrophy, Abnormal left ventricular function, Limb-girdle muscle weakness, F... |
ORPHA:98912 |
Spastic Paraplegia 73, Autosomal Dominant |
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Skeletal muscle atrophy |
OMIM:616282 |
Congenital Muscular Dystrophy, Ullrich Type |
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Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
Lethal Congenital Contracture Syndrome 3 |
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Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:611369 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
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Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Spermatogenic Failure 43 |
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Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
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Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
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Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Nemaline Myopathy 8 |
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Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture |
OMIM:615348 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
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Myalgia, Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps... |
ORPHA:206546 |
Spastic Paraplegia 77, Autosomal Recessive |
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Lower limb amyotrophy |
OMIM:617046 |
Progressive Familial Heart Block, Type Ia |
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Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
Myopathy And Diabetes Mellitus |
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Myalgia, Exercise intolerance, Weakness of facial musculature, Pelvic girdle muscle weakness, Wea... |
ORPHA:2596 |
Congenital Muscular Dystrophy With Intellectual Disability |
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Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... |
ORPHA:370968 |
Hypokalemic Periodic Paralysis, Type 1 |
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Myotonia, Myopathy |
OMIM:170400 |
Combined Oxidative Phosphorylation Deficiency 33 |
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Exercise intolerance, Left ventricular hypertrophy, Elevated circulating creatine kinase concentr... |
OMIM:617713 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
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Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... |
ORPHA:2926 |
Combined Oxidative Phosphorylation Deficiency 49 |
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Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Myalgia, Exercise i... |
OMIM:619024 |
Rigid Spine Syndrome |
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Hamstring contractures, Hip contracture, Elbow flexion contracture, Skeletal muscle atrophy, Myop... |
ORPHA:97244 |
Spastic Paraplegia 42, Autosomal Dominant |
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Skeletal muscle atrophy |
OMIM:612539 |
Richieri Costa-Da Silva Syndrome |
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Inability to walk, Skeletal muscle hypertrophy, Asymmetric limb muscle stiffness, Falls, Myotonia... |
ORPHA:3101 |
Cardiomyopathy, Dilated, 1E |
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Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Cardiomyopathy, Familial Hypertrophic, 16 |
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Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
Glycogen Storage Disease X |
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Exercise intolerance, Exercise-induced myalgia, Elevated circulating creatine kinase concentratio... |
OMIM:261670 |
Combined Oxidative Phosphorylation Deficiency 28 |
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Ragged-red muscle fibers, Increased serum pyruvate, Fatigue, Abdominal pain |
OMIM:616794 |
Immunodeficiency 27A |
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Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Hypoa... |
OMIM:209950 |
Myotonia Fluctuans |
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Myalgia, Myotonia of the face, Myotonia with warm-up phenomenon, Fatigue, Spasticity of facial mu... |
ORPHA:99734 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
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Myalgia, Truncal ataxia, Chorea, Difficulty walking, Exercise-induced muscle fatigue, Limb-girdle... |
ORPHA:369847 |
Muscular Atrophy, Malignant Neurogenic |
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Skeletal muscle atrophy |
OMIM:158650 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
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Myopathy, Facial palsy, Skeletal muscle atrophy, Flexion contracture |
OMIM:616313 |
Spermatogenic Failure 65 |
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Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Glycogen Storage Disease Iii |
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Hyperlipidemia, Elevated circulating creatine kinase concentration, Distal amyotrophy, Ventricula... |
OMIM:232400 |
Hemophagocytic Syndrome Associated With An Infection |
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Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... |
ORPHA:158048 |
Neuronopathy, Distal Hereditary Motor, Type I |
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Upper limb muscle weakness, Distal amyotrophy |
OMIM:182960 |
Duchenne And Becker Muscular Dystrophy |
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Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen... |
ORPHA:262 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
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Calf muscle hypertrophy |
OMIM:618197 |
Spermatogenic Failure 56 |
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Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Sengers Syndrome |
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Hypertrophic cardiomyopathy, Fatigue, Myopathy, Exercise intolerance |
OMIM:212350 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
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EMG: myopathic abnormalities, Congenital muscular dystrophy, Axial muscle weakness, Limb muscle w... |
OMIM:601170 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
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Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
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Myalgia, Ataxia, Exercise intolerance, Lower limb pain, Multiple lipomas, Fatigue, Gait disturban... |
ORPHA:1349 |
Amyotrophic Lateral Sclerosis Type 4 |
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Skeletal muscle atrophy |
ORPHA:357043 |
Normokalemic Periodic Paralysis |
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Percussion myotonia |
OMIM:170600 |
Heart-Hand Syndrome, Slovenian Type |
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Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
Charcot-Marie-Tooth Disease, Axonal, Type 2W |
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Distal amyotrophy |
OMIM:616625 |
Spermatogenic Failure, X-Linked, 3 |
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Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
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Myopathy |
OMIM:551500 |
Spastic Paraplegia 43, Autosomal Recessive |
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Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy |
OMIM:615043 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
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Skeletal muscle atrophy |
OMIM:158500 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... |
OMIM:613954 |
Glycerol Kinase Deficiency |
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Adrenal insufficiency, Muscular dystrophy, Adrenocortical hypoplasia, Hypertriglyceridemia, Crypt... |
OMIM:307030 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
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Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy |
OMIM:605809 |
Myopathy Due To Malate-Aspartate Shuttle Defect |
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Exercise-induced myalgia, Elevated circulating creatine kinase concentration, Myopathy |
OMIM:254960 |
Idiopathic Camptocormia |
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Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Osteoarthritis, Abnormal inflammator... |
ORPHA:1320 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
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Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture |
OMIM:201470 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality |
|
Proximal spinal muscular atrophy |
OMIM:271110 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Myalgia, Macroglossia, Skeletal muscle hypertrophy, Hypothyroidism, Myopathy |
ORPHA:2349 |
Eosinophilic Fasciitis |
|
Muscular edema, Myositis, Arthritis, Fasciitis, Weight loss |
ORPHA:3165 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Abnormal circulating creatin... |
OMIM:617336 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:618234 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Myalgia, Intrinsic hand muscle atrophy, Back pain, EMG: myopathic abnormalities,... |
ORPHA:329478 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Gait disturbance, Failure to thrive, Fatigue |
ORPHA:79283 |
Pure Mitochondrial Myopathy |
|
Myalgia, Loss of ambulation, Exercise-induced muscle fatigue, Exercise intolerance, Quadriceps mu... |
ORPHA:254854 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:401785 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... |
ORPHA:397744 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Anal Sphincter Myopathy, Internal |
|
Myopathy |
OMIM:105565 |
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Failure to thrive, Falls, Fatigue, Arthrogryposis multiplex congenita |
OMIM:616326 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Myalgia, Exercise intolerance, EMG: myopathic abnormalities, Left ventricular hypertrophy, Elevat... |
OMIM:615418 |
Nemaline Myopathy 3 |
|
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Ty... |
OMIM:161800 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Acne |
ORPHA:69126 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Episodic hypokalemia, Respiratory paralysis, Late-onset proxima... |
ORPHA:681 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevation, Foot dorsiflexor we... |
ORPHA:263297 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Spl... |
OMIM:616860 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Flexion contracture, Elevated circulating creatine kinase concentration, Foot dorsi... |
OMIM:615883 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Multiple Myeloma |
|
Splenomegaly, Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Weight... |
ORPHA:29073 |
Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Elevate... |
OMIM:310200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|