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 |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Elevated circulating creatine k... |
OMIM:254110 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Shoulder girdle mus... |
OMIM:613530 |
Vacuolar Neuromyopathy |
|
Neck flexor weakness, Elevated circulating creatine kinase concentration, Shoulder girdle muscle ... |
OMIM:601846 |
Muscular dystrophy, limb-girdle, type 2R |
|
Scapular winging, Muscular dystrophy, Facial palsy, Elbow flexion contracture |
OMIM:615325 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Muscular dystrophy... |
OMIM:617072 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Scapular winging, Shoulde... |
OMIM:310095 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Elevated circulating cre... |
OMIM:601954 |
Miyoshi Muscular Dystrophy 1 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Deposits immunoreactive t... |
OMIM:254130 |
Myopathy, Myofibrillar, 2 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Respiratory insufficienc... |
OMIM:608810 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Congenital muscular dystr... |
OMIM:613152 |
Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content |
OMIM:612932 |
Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
Muscular Dystrophy, Congenital, Producing Arthrogryposis |
|
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy |
OMIM:253900 |
Miyoshi Muscular Dystrophy 3 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Quadriceps muscle atrophy... |
OMIM:613319 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Proximal amyotrophy, Elevated circulating creatine kinase concentration, Shoulder girdle muscle a... |
OMIM:604286 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Gowers sign, Elevated circulating creatine kinase concentration, Hypog... |
OMIM:613818 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Proximal muscle weakness, Skeletal muscle atrophy, Elevated circulating creatine kinase concentra... |
OMIM:608807 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, EMG: myopathic abno... |
OMIM:253601 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Gowers sign, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, F... |
OMIM:603511 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, Elevated circulating creatine kinase... |
OMIM:608358 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Elevated circulating creatine kinase con... |
OMIM:611307 |
Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... |
ORPHA:2593 |
Myopathy, Myofibrillar, 3 |
|
Elevated circulating creatine kinase concentration, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... |
OMIM:608423 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Proximal muscle weakness, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal mu... |
OMIM:618655 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Proximal muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Facial pals... |
OMIM:609456 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Proximal amyotrophy, Proximal muscle weakness, Elevated circulating creatine kinase concentration... |
OMIM:612998 |
Myotonia Congenita, Autosomal Dominant |
|
Myotonia, Skeletal muscle hypertrophy, Handgrip myotonia, Percussion myotonia, EMG: myotonic runs... |
OMIM:160800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Gowers sign, Proximal muscle weakness, Skeletal muscle atrophy, Elevated circulating creatine kin... |
OMIM:613723 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Elevated circulating creatine kinase concentration, Failure to thrive, Respiratory insufficiency ... |
OMIM:613205 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, ... |
OMIM:615422 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Highly elevated creatine kinase, Proximal muscle weaknes... |
OMIM:618848 |
Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy, Musc... |
OMIM:617030 |
Nonaka Myopathy |
|
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Rimmed vacuoles... |
OMIM:605820 |
Myopathy, Distal, 3 |
|
Late-onset proximal muscle weakness, Joint contracture of the hand, EMG: myopathic abnormalities,... |
OMIM:610099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Proximal amyotrophy, Gowers sign, Proximal muscle weakness, Elevated circulating creatine kinase ... |
OMIM:601287 |
Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Elevated ... |
OMIM:617158 |
Welander Distal Myopathy |
|
Distal muscle weakness, Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Percussion myotonia, Skeletal muscle fibrosis, Rimmed vacuoles,... |
ORPHA:34516 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Elevated circulating cre... |
OMIM:609115 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
Muscular Dystrophy, Scapulohumeral |
|
Scapulohumeral muscular dystrophy |
OMIM:600416 |
Inclusion Body Myositis |
|
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal mu... |
ORPHA:611 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Gowers sign, Muscle weakness |
OMIM:616094 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Pelvic girdle muscle weakness, Scapulohumeral muscular dystrophy, Beevor's sign, Facial palsy, Sc... |
OMIM:158901 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... |
OMIM:158600 |
Myofibrillar Myopathy 11 |
|
Gowers sign, Proximal muscle weakness, Z-band streaming, Generalized amyotrophy, Shoulder girdle ... |
OMIM:619178 |
Muscular Dystrophy, Hemizygous Lethal Type |
|
Limb-girdle muscular dystrophy |
OMIM:309950 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Congenital... |
OMIM:613204 |
Distal Myopathy, Welander Type |
|
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly ele... |
ORPHA:603 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated creatine kinase ... |
ORPHA:263494 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Elevated circulating creatine kinase con... |
ORPHA:34515 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle atrophy, Peroneal muscle weakness, Dilated cardiomyopathy, Sudden cardiac death, ... |
OMIM:181350 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Proximal amyotrophy, Myositis, Elevated circulating creatine kinase concentration, Facial palsy, ... |
OMIM:253600 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, External ophthalmoplegia, Elevated circulating creatine kinase co... |
OMIM:618940 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Respiratory insuffi... |
OMIM:300717 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase ... |
OMIM:609500 |
Rippling Muscle Disease 2 |
|
Skeletal muscle hypertrophy, Abnormal skeletal muscle morphology, Percussion-induced rapid rollin... |
OMIM:606072 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Muscular Dystrophy, Congenital, 1B |
|
Gowers sign, Elevated circulating creatine kinase concentration, Generalized muscle hypertrophy, ... |
OMIM:604801 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Salih Myopathy |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Facial pals... |
OMIM:611705 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Elevated circulating creatine kinase concentration, Generalized amyot... |
ORPHA:86812 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter |
OMIM:618992 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Neck flexor weakness, Wrist drop, Progressive muscle weakness, Achilles ... |
OMIM:616852 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Proximal muscle weakness, Angulated muscle fibers, Weakness of facial musculature, Shoulder girdl... |
OMIM:619477 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Proximal muscle weakness, Scapular muscle atrophy, Congenital finger f... |
ORPHA:267 |
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 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Skeletal muscle hypertrop... |
OMIM:613158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Scap... |
OMIM:617232 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Weakness... |
ORPHA:457050 |
Myopathy, Distal, 4 |
|
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Mildly elevated ... |
OMIM:614065 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia, Myotonia of the upper limb, Handgrip myotonia, Percussion myotonia, Cold-sensitive myot... |
ORPHA:684 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Type II diabetes mellitus, Elevated circulating cr... |
OMIM:500002 |
Myopathy, Myofibrillar, 5 |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Muscle fiber cytopl... |
OMIM:609524 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Proximal muscle weakness, Myopathy, Mildly elevated creatine kinase, Rimmed vacuoles, Limb-girdle... |
OMIM:615424 |
Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Proximal muscle weakness, Muscle fiber hypertrophy, Skeletal muscle atrophy... |
ORPHA:178464 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Abnormal circulating creatine kinase concentration, Progressive distal muscle weakness, Autophagi... |
ORPHA:399058 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness, Skeletal muscle hypertrophy, External ophthalmoplegia, Facial palsy, EM... |
OMIM:160150 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Cardiomyopathy,... |
OMIM:608099 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia, Skeletal muscle atrophy |
OMIM:254950 |
Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Muscle hypertrophy of the lower extremities, Skeletal muscle hypertrophy, Percussion my... |
OMIM:255700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Myopathy, Elevated circulating creatine kinase concentration, Back pain, Mya... |
OMIM:618129 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystrophy, Flexion c... |
OMIM:609308 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Muscular dystrophy, Proximal muscle weakness, Elevated circulating creatine ... |
OMIM:612999 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Elevated circula... |
OMIM:255160 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Hypoglycosylation of alpha-dy... |
OMIM:615352 |
Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Calf muscle pseudohypertr... |
OMIM:300376 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:607855 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myotonia, Myopathy |
OMIM:158800 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Autophagic vacuoles, Elevated circulatin... |
ORPHA:266 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Gowers sign, Proximal muscle weakness, Elevated circulating creatine kinase concentration, Achill... |
ORPHA:62 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Tall stature, Elevated circulating creatine ki... |
ORPHA:1878 |
Myositis |
|
Proximal muscle weakness, Myositis |
OMIM:160750 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Muscle weakness, Myositis |
ORPHA:48918 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Gowers sign, Proximal muscle weakness, Skeletal muscle hypertrophy, Elevated circulating creatine... |
OMIM:613157 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myositis, Elevated circulating ... |
ORPHA:565899 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Gowers sign, Myopathy, Elevated circulating creatine kinase concentration, Facial palsy, Congenit... |
OMIM:602541 |
Myopathy, Myofibrillar, 6 |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Facial palsy, Ge... |
OMIM:612954 |
Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine |
OMIM:212160 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Musc... |
OMIM:616516 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion co... |
OMIM:300695 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... |
ORPHA:370980 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy, Muscle weakness |
OMIM:253590 |
Distal Myopathy With Anterior Tibial Onset |
|
Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Tibia... |
ORPHA:178400 |
Inclusion Body Myositis |
|
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration, Myopathy |
ORPHA:88635 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia, Skeletal muscle atrophy, Increased muscle glycogen content |
ORPHA:371 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
Scapuloperoneal Myopathy, Myh7-Related |
|
Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature |
OMIM:181430 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Elevated circulating creatine kinase concentration, Gowers sign, Calf muscle hypertrophy, Proxima... |
OMIM:618135 |
Bethlem Myopathy 1 |
|
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Elevated circulating c... |
OMIM:158810 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Short stature, Muscle weakness, Increased variability in muscle fiber diameter, ... |
OMIM:619042 |
Immune-Mediated Necrotizing Myopathy |
|
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis... |
ORPHA:206569 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Dilated cardiomyopathy, Skeletal muscle atrophy, Macroglossia, Elevated circul... |
OMIM:616827 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Rimmed vacuoles,... |
OMIM:300696 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:309930 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Proximal muscle weakness, Minicore myopathy, Z-band streaming, Fatty replacement of skeletal musc... |
OMIM:618823 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Poor head control, Minicore myopathy, Limb muscle weakness, Respirat... |
ORPHA:486815 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Muscle weakness |
OMIM:614807 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Macroglossia, Elevated circulating creatine kinase concentration, Facial palsy, Cardiomyopathy, C... |
OMIM:613155 |
Zebra Body Myopathy |
|
Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, ... |
ORPHA:97240 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Myopathy, Limb muscle weakness |
OMIM:609273 |
Myopathy, Distal, Tateyama Type |
|
Elevated circulating creatine kinase concentration, Neck muscle weakness, Calf muscle hypertrophy |
OMIM:614321 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Gowers sign, Myopathy, Proximal muscle weakness, Elevated circulating creatine kinase concentrati... |
OMIM:612937 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Skeletal muscle hypertrophy, Macroglossia, Elevated circulating creatine kinase concentration, Ac... |
OMIM:608840 |
Lipodystrophy, Familial Partial, Type 6 |
|
Proximal muscle weakness, Abnormal circulating lipid concentration, Elevated circulating creatine... |
OMIM:615980 |
Miyoshi Myopathy |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Pelvic girdle muscle weakness, Tric... |
ORPHA:45448 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Elevated circulating creatine kinase concentration, Myopathy, Distal amyotrophy |
OMIM:606768 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Elevated circulating... |
OMIM:160500 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Progr... |
ORPHA:488650 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Skeletal muscle atrophy, Mildly elevated creatine kinase, Muscle weakness, Distal amyotrophy, Dis... |
OMIM:614369 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Respiratory insufficiency due to ... |
OMIM:617066 |
Myopathy, Distal, Infantile-Onset |
|
Elevated circulating creatine kinase concentration, Foot dorsiflexor weakness, Distal muscle weak... |
OMIM:160300 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myopathy, Abnormal circulating creatine kinase concentration, Cerebral white matter atrophy, Musc... |
ORPHA:369840 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Weakness of the in... |
ORPHA:399081 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... |
ORPHA:437572 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture |
OMIM:613869 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Gowers sign, Weakness of facial musculature, Small for gestational age, Arthrogryposis multiplex ... |
OMIM:618484 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Increased circulating ferr... |
OMIM:618963 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Elevated circulating creatine kinase concentration, Myopathy |
OMIM:607091 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Hip flexor weakness, Car... |
ORPHA:63273 |
Bethlem Myopathy 2 |
|
Myopathy, Elevated circulating creatine kinase concentration, Increased variability in muscle fib... |
OMIM:616471 |
Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98855 |
Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Paradoxical myotonia, Skeletal muscle hypertrophy, Percussion myotonia |
OMIM:168300 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, M... |
ORPHA:171442 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Elevated circulating creatine kinase concentration, E... |
OMIM:123320 |
Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content, Elevated circulating creatine kinase concentration, Car... |
OMIM:610717 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Microcephaly, Elevated circulating c... |
OMIM:615350 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Proximal muscle weakness, Limb joint contracture, Failure to thrive, Respiratory insufficiency du... |
OMIM:255310 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Elevated circulating creati... |
ORPHA:270 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Gowers sign, Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, Elevated circulat... |
OMIM:253700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum pyruvate, Increased intramyocellular lipid droplets, Weakness of facial musculatu... |
OMIM:619062 |
Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Poor head control, Minicore myopathy, Short stat... |
OMIM:602771 |
Myopathy, Centronuclear, 2 |
|
Gowers sign, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Generali... |
OMIM:255200 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Elevated circulating creatine kinase concentration, Progressive muscle weakness, F... |
OMIM:619518 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Hypotonia, Ragged-red muscle fibers, Generalized hypotonia |
OMIM:500003 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakness, Palpitations, Atrioven... |
OMIM:616812 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Gowers sign, Elevated circulating creatine kinase concentration, Reduc... |
ORPHA:280333 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Myopathy, Fatty replacement o... |
OMIM:255100 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... |
OMIM:160565 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98853 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Proximal muscle weakness, Minicore myopathy, Ske... |
OMIM:255320 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, EMG: myotonic runs, Sca... |
ORPHA:353 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
|
Spinal muscular atrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle weakness |
OMIM:614881 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Neck flexor weakness, Elevated circulati... |
OMIM:603689 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circulating creatine ... |
ORPHA:276435 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Mildly elevated creatine kinase, Increased variability in ... |
ORPHA:401768 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Gowers sign, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration, Mus... |
OMIM:611588 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, External ophthalmoplegia, Elevated ci... |
OMIM:158900 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Muscular dystrophy |
OMIM:615041 |
Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... |
ORPHA:610 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Myopathy, Spheroid Body |
|
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
OMIM:182920 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle weakness, Myopathy, Temporal cortical atrophy, Limb muscle weakness, Elevate... |
OMIM:167320 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Babinski sign, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Frequent falls, Elevate... |
OMIM:616924 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Proximal muscle weakness, Weakness of facial musculature, Internally nucleated skeletal muscle fi... |
OMIM:618654 |
Myopathy With Giant Abnormal Mitochondria |
|
Limb-girdle muscle atrophy, Myopathy |
OMIM:255140 |
Nathalie Syndrome |
|
Abnormal EKG, Skeletal muscle atrophy |
OMIM:255990 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Microcephaly, Congenital ... |
OMIM:613151 |
Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, Elevated circulating creatine kinase concentration, Cardiomyopath... |
ORPHA:98911 |
Nemaline Myopathy 7 |
|
Nemaline bodies, Minicore myopathy, Myofibrillar myopathy |
OMIM:610687 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture, Elev... |
OMIM:300718 |
Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions, Proximal muscle weakness, Fatigable weakness |
OMIM:614750 |
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis |
|
Elevated circulating creatine kinase concentration, Secondary microcephaly, Rhabdomyolysis, Cereb... |
OMIM:618331 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Elevated circulating creatine kinase concentration, Fa... |
OMIM:613156 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Corpus callosum atrophy, Cardiomyopathy |
OMIM:225740 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Adenosine Monophosphate Deaminase Deficiency |
|
Exercise-induced myalgia, Myalgia, Exercise-induced muscle fatigue, Limb muscle weakness |
ORPHA:45 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, EMG: myopathic abnorm... |
ORPHA:399086 |
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Upper limb amyotrophy, Triceps weakness, Weakness of fac... |
ORPHA:482601 |
Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... |
ORPHA:178145 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Type II lissencephaly, Fl... |
OMIM:613154 |
King-Denborough Syndrome |
|
Ventricular septal defect, Minicore myopathy, Weakness of facial musculature, Elevated circulatin... |
OMIM:619542 |
Neuronopathy, Distal Hereditary Motor, Type Va |
|
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... |
OMIM:600794 |
Polyglucosan Body Myopathy 2 |
|
Distal muscle weakness, Skeletal muscle atrophy, Limb-girdle muscle weakness |
OMIM:616199 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Elevated circulating creatine kinase concentration, Hypoglycosylation of alpha-dyst... |
OMIM:616052 |
Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
Progressive Familial Heart Block, Type Ia |
|
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... |
OMIM:113900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Poor head control, Generalized limb muscle atrophy, Elevated circulating creatine kinase concentr... |
OMIM:615351 |
Myopathy, Myofibrillar, 4 |
|
Progressive distal muscle weakness, Autophagic vacuoles, Elevated circulating creatine kinase con... |
OMIM:609452 |
Spinal Muscular Atrophy, Scapuloperoneal |
|
Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy |
OMIM:271220 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Gowers sign, Proximal muscle weakness, Limb muscle weaknes... |
OMIM:617258 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy, Hyperalaninemia |
ORPHA:2597 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Pneumonia, Neonatal hypotonia, Type 1 fibers relatively smaller t... |
ORPHA:596 |
Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Mitral valve prol... |
ORPHA:597 |
Nemaline Myopathy 2 |
|
Slender build, Generalized muscle weakness, Late-onset distal muscle weakness, Calf muscle pseudo... |
OMIM:256030 |
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Myopathy, Facial palsy |
OMIM:253320 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Exercise-induced myalgia, Abnormality of the foot muscul... |
ORPHA:169189 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Glycogen Storage Disease Ixb |
|
Muscle weakness, Short stature, Increased muscle glycogen content |
OMIM:261750 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Facial palsy, EMG: myopathic abno... |
OMIM:609283 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Distal lower limb amyotrophy, Cataract |
ORPHA:73245 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Peroneal muscle atrophy, Gait disturbance, Myotonia, Weakness of the intrinsic hand muscles, Hand... |
ORPHA:324442 |
Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rimmed vac... |
OMIM:248800 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Abnormal corpus striatum morphology, Skeletal muscle atrophy, Increased... |
ORPHA:238329 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Gowers sign, Growth delay, Short stature, Obesity, Abnor... |
ORPHA:171706 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Proximal amyotrophy, Muscular dystrophy, Neck muscle weakness, Proximal muscle weakness |
OMIM:614302 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Macroglossia, Elevated circulating creatine kinase concentration, Achilles t... |
OMIM:606612 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... |
OMIM:601472 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Frog-leg posture, Centrally nucleated skeletal muscl... |
ORPHA:324581 |
Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Arthrogryposis multiplex congenita, Knee flexion contracture, Paraspinal muscle ... |
OMIM:602484 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter, Dilation of ... |
OMIM:616816 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myalgia, Proximal muscle w... |
OMIM:619216 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fasciculations, Dist... |
OMIM:615048 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis |
OMIM:617222 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Gowers sign, Neck flexor weakness, Internally nucleated ... |
OMIM:618138 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Proximal muscle weakness, Skeletal muscle atrophy, Rimmed vacuoles, Calf muscle hypertrophy, Incr... |
OMIM:617760 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Decrea... |
OMIM:310300 |
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower limb amyotrophy, ... |
ORPHA:219 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Myotonia, Myopathy, Skeletal muscle atrophy, Flexion con... |
OMIM:310440 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Infantile axial hypotonia, Hypotonia, Abnormal muscle fiber protein expression, Developmental cat... |
ORPHA:330054 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... |
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 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Myopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Ap... |
ORPHA:272 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy, Microcephaly |
ORPHA:50817 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level |
OMIM:206200 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Foot dorsiflexor weakness, Myotonia, Skeletal muscle atrophy |
OMIM:137200 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Ragged-red muscle fibers, Skeletal muscle atrophy, Abnormality of the b... |
OMIM:300816 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Generalized amyotrophy, Flexion contracture |
OMIM:618323 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Mildly elevated... |
ORPHA:254864 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Viral infection-induced rhabdom... |
ORPHA:99845 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Myopathy, Skeletal muscle atrophy, Exercise-induced myalgia, Rhabdomyolysis, Increased muscle fat... |
OMIM:615511 |
Masticatory Muscles, Hypertrophy Of |
|
Skeletal muscle hypertrophy |
OMIM:154850 |
Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Proximal muscle weakness, Myopathy, Generalized muscle weakness, Neck muscle weakness, Ophthalmop... |
OMIM:605637 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Achilles tendon contracture, Decreased nerve conduction velocity, Subcapsular cata... |
OMIM:612674 |
Myasthenic Syndrome, Congenital, 14 |
|
Gowers sign, Ragged-red muscle fibers, Mildly elevated creatine kinase, Fatigable weakness, Flexi... |
OMIM:616228 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Muscular dystrophy, Obesity |
ORPHA:459033 |
Neuronopathy, Distal Hereditary Motor, Type Iic |
|
Distal lower limb muscle weakness, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:613376 |
Acetazolamide-Responsive Myotonia |
|
Gait disturbance, Myotonia, Skeletal muscle hypertrophy, Myalgia, Chest pain |
ORPHA:99736 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Progressive external ophthalmop... |
ORPHA:663 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Left ventricular systoli... |
ORPHA:206559 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration |
ORPHA:154 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Myopathy, Minicore myopathy, Scapular winging, EMG: myopathic abnormalities, Multiple joint contr... |
ORPHA:424107 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Card... |
ORPHA:119 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy, Type II lissencephaly |
OMIM:614830 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Percussion myotonia, EMG: myopathic abnormalities, Knee flexion contra... |
OMIM:619040 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Scapular winging, Nemaline bodies, Facial palsy, Cardiomyopathy |
OMIM:617336 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypertriglyceridemia |
ORPHA:366 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Congenital muscular dystrophy |
ORPHA:1875 |
Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
Isolated Glycerol Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Myopathy, Adrenocortical hypoplasia, Cryptorc... |
ORPHA:408 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy |
OMIM:615025 |
Lethal Congenital Contracture Syndrome 4 |
|
Multiple joint contractures, Distal arthrogryposis, Skeletal muscle atrophy, Flexion contracture |
OMIM:614915 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Skeletal muscle atr... |
OMIM:617070 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Pleoconial Myopathy With Salt Craving |
|
Proximal amyotrophy, Myopathy |
OMIM:262900 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Elevated circulating creatine kinase co... |
ORPHA:254886 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Upper limb muscle weakness, Distal amyotrophy |
OMIM:608323 |
Ocular Myopathy With Curare Sensitivity |
|
Myopathy, Limb muscle weakness |
OMIM:257600 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy, Type II diabetes mellitus |
ORPHA:2579 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Elevated circulating creatine kinase concentration, Lissencephaly, Left ventricular hypertrophy, ... |
OMIM:613153 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Elevated circulating creatine ki... |
OMIM:609560 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
Spinal muscular atrophy, Distal amyotrophy |
OMIM:300489 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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Abnormal skeletal muscle morphology, Internally nucleated skeletal muscle fibers, Axial muscle we... |
ORPHA:98905 |
Nemaline Myopathy 5 |
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Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... |
OMIM:605355 |
Spastic Paraplegia 17, Autosomal Dominant |
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First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... |
OMIM:270685 |
Spastic Paraplegia 38, Autosomal Dominant |
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First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... |
OMIM:612335 |
Nemaline Myopathy 1 |
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Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Nemaline bodies, D... |
OMIM:609284 |
Spinocerebellar Ataxia 43 |
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Rigidity, Distal sensory impairment, Ataxia, Tremor, Distal amyotrophy, Limb ataxia, Gait ataxia |
OMIM:617018 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Myopathy, Elevated creatine kinase after exercise, Myalgia, Multiple joint contractures, Limb-gir... |
ORPHA:352470 |
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 |
Classic Multiminicore Myopathy |
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Poor head control, Increased muscle lipid content, Weakness of facial musculature, Short stature,... |
ORPHA:324604 |
Lethal Congenital Contracture Syndrome 5 |
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Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur... |
OMIM:615368 |
Proximal Myotonic Myopathy |
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Myotonia |
ORPHA:606 |
Nemaline Myopathy 4 |
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Hypotonia, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture, G... |
OMIM:609285 |
Charcot-Marie-Tooth Disease Type 1B |
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Decreased nerve conduction velocity, Abnormal pupil morphology, Skeletal muscle atrophy, Skeletal... |
ORPHA:101082 |
Autosomal Recessive Centronuclear Myopathy |
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Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... |
ORPHA:169186 |
Ullrich Congenital Muscular Dystrophy 2 |
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Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... |
OMIM:616470 |
Familial Progressive Cardiac Conduction Defect |
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Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
Incessant Infant Ventricular Tachycardia |
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Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
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Babinski sign, Skeletal muscle atrophy, Tremor, Ataxia, Flexion contracture, Spasticity |
OMIM:611105 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
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Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture, Abnormal cerebral white matter morph... |
OMIM:201470 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
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Firm muscles, Myotonia, Skeletal muscle hypertrophy |
OMIM:255710 |
Ullrich Congenital Muscular Dystrophy 1 |
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Proximal muscle weakness, Reduced muscle collagen VI, Torticollis, Failure to thrive, Respiratory... |
OMIM:254090 |
Glycogen Storage Disease 0, Muscle |
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Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement, Decreased muscle glycogen ... |
OMIM:611556 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
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Myopathy |
OMIM:616321 |
Brugada Syndrome |
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Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Elevated circulating creatin... |
ORPHA:353327 |
Myasthenic Syndrome, Congenital, 5 |
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Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness |
OMIM:603034 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Elevated circulating C-react... |
OMIM:604416 |
Myotonia Permanens |
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Gait disturbance, Myotonia, Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Myalgia,... |
ORPHA:99735 |
Myotonia, Potassium-Aggravated |
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Myotonia, Skeletal muscle hypertrophy |
OMIM:608390 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
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Failure to thrive, Gait disturbance, Fatigue, Lethargy |
ORPHA:79283 |
Spermatogenic Failure 46 |
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Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
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Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:182970 |
Hereditary Continuous Muscle Fiber Activity |
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Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... |
ORPHA:972 |
Spastic Paraplegia 73, Autosomal Dominant |
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Skeletal muscle atrophy |
OMIM:616282 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
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Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... |
ORPHA:98912 |
Congenital Muscular Dystrophy, Ullrich Type |
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Abnormal muscle fiber morphology, Torticollis, Elevated circulating creatine kinase concentration... |
ORPHA:75840 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Eleva... |
ORPHA:352447 |
Congenital Muscular Dystrophy With Intellectual Disability |
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Skeletal muscle hypertrophy, Facial palsy, Reduced muscle fiber alpha dystroglycan, Hypoglycosyla... |
ORPHA:370968 |
Spermatogenic Failure 43 |
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Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
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Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
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Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Nemaline Myopathy 8 |
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Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture |
OMIM:615348 |
Hemophagocytic Syndrome Associated With An Infection |
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Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... |
ORPHA:158048 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
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Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Absent muscle dystrop... |
ORPHA:206546 |
Lethal Congenital Contracture Syndrome 3 |
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Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:611369 |
Spastic Paraplegia 77, Autosomal Recessive |
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Lower limb amyotrophy |
OMIM:617046 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
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Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... |
ORPHA:2926 |
Muscular Atrophy, Malignant Neurogenic |
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Skeletal muscle atrophy |
OMIM:158650 |
Spastic Paraplegia 42, Autosomal Dominant |
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Skeletal muscle atrophy |
OMIM:612539 |
Rigid Spine Syndrome |
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Myopathy, Skeletal muscle atrophy, Hip contracture, Hamstring contractures, Elbow flexion contrac... |
ORPHA:97244 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
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Facial palsy, Myopathy, Skeletal muscle atrophy, Flexion contracture |
OMIM:616313 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Proximal muscle weakness in lower limbs, Babinski sign, Skeletal muscle atrophy, Limb muscle weak... |
OMIM:613954 |
Myotonia Fluctuans |
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Gait disturbance, Myotonia of the upper limb, Handgrip myotonia, Myotonia of the lower limb, Spas... |
ORPHA:99734 |
Combined Oxidative Phosphorylation Deficiency 28 |
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Increased serum pyruvate, Fatigue, Ragged-red muscle fibers, Abdominal pain |
OMIM:616794 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
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Myopathy, Exercise-induced muscle fatigue, Chorea, Myalgia, Limb-girdle muscular dystrophy, Trunc... |
ORPHA:369847 |
Glycogen Storage Disease Iii |
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Myopathy, Hyperlipidemia, Elevated circulating creatine kinase concentration, Ventricular hypertr... |
OMIM:232400 |
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, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kin... |
ORPHA:262 |
Richieri Costa-Da Silva Syndrome |
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Decreased muscle mass, Myotonia of the upper limb, Skeletal muscle hypertrophy, Handgrip myotonia... |
ORPHA:3101 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
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Calf muscle hypertrophy |
OMIM:618197 |
Myopathy And Diabetes Mellitus |
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Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... |
ORPHA:2596 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
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Myopathy |
OMIM:551500 |
Amyotrophic Lateral Sclerosis Type 4 |
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Skeletal muscle atrophy |
ORPHA:357043 |
Glycerol Kinase Deficiency |
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Myopathy, Adrenal insufficiency, Muscular dystrophy, Hypertriglyceridemia, Cryptorchidism, Adreno... |
OMIM:307030 |
Combined Oxidative Phosphorylation Deficiency 33 |
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Myopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, Left ... |
OMIM:617713 |
Immunodeficiency 27A |
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Thrombocytosis, Leukocytosis, Weight loss, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbumine... |
OMIM:209950 |
Charcot-Marie-Tooth Disease, Axonal, Type 2W |
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Distal amyotrophy |
OMIM:616625 |
Heart-Hand Syndrome, Slovenian Type |
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Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
Myopathy Due To Malate-Aspartate Shuttle Defect |
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Elevated circulating creatine kinase concentration, Myopathy, Exercise-induced myalgia |
OMIM:254960 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
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Skeletal muscle atrophy |
OMIM:158500 |
Spastic Paraplegia 43, Autosomal Recessive |
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Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy |
OMIM:615043 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... |
OMIM:616860 |
Idiopathic Camptocormia |
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Abnormal inflammatory response, Dystonia, Myositis, Amyotrophic lateral sclerosis, EMG: myopathic... |
ORPHA:1320 |
Spermatogenic Failure 56 |
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Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
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Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness |
OMIM:605809 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
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Myopathy, Gait ataxia, Increased muscle fatiguability |
OMIM:613077 |
Diaphragmatic Hernia 2 |
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Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality |
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Proximal spinal muscular atrophy |
OMIM:271110 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
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Limb muscle weakness, Facial palsy, EMG: myopathic abnormalities, Generalized muscle weakness, Co... |
OMIM:601170 |
Spermatogenic Failure 62 |
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Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
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Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
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Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... |
ORPHA:329478 |
Amyotonia Congenita |
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Skeletal muscle atrophy |
OMIM:205000 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
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Myopathy, Cardiomyopathy, Microcephaly, Elevated circulating acylcarnitine concentration |
ORPHA:26792 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
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Hypertrophic cardiomyopathy, Myopathy |
OMIM:618234 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Decreased muscle mass, Palpitations, Ventricular tachycardia, Cardiomyopathy, Shoulder girdle mus... |
ORPHA:263297 |
Spermatogenic Failure, X-Linked, 3 |
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Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 59 |
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Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
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Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Eosinophilic Fasciitis |
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Myositis, Weight loss, Fasciitis, Arthritis, Muscular edema |
ORPHA:3165 |
Sengers Syndrome |
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Hypertrophic cardiomyopathy, Myopathy, Fatigue |
OMIM:212350 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
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Elevated circulating creatine kinase concentration, Myopathy, Skeletal muscle atrophy |
ORPHA:300179 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
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Myopathy, Skeletal muscle hypertrophy, Macroglossia, Myalgia, Hypothyroidism |
ORPHA:2349 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
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Optic atrophy, Ragged-red muscle fibers, Mitral valve prolapse, Impaired distal proprioception, M... |
OMIM:258450 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
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Arrhythmia, Bundle branch block |
ORPHA:1479 |
Multiple Myeloma |
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Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Anem... |
ORPHA:29073 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Elevated circulating creatine kinase concentration, Leukoencephalopathy, Muscular dystrophy, Poly... |
OMIM:615181 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Myopathy, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Increased variability in... |
ORPHA:397744 |
Spermatogenic Failure 58 |
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Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Autosomal Recessive Spastic Paraplegia Type 62 |
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Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:401785 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
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Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease |
ORPHA:69126 |
Spermatogenic Failure 40 |
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Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Myopathy, Tubular Aggregate, 2 |
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Proximal muscle weakness, Elevated circulating creatine kinase concentration, Generalized muscle ... |
OMIM:615883 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
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Hypertrophic cardiomyopathy, Myopathy, Secondary microcephaly |
OMIM:618236 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Ragged-red muscle fibers, ... |
ORPHA:1349 |
Combined Oxidative Phosphorylation Deficiency 49 |
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Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Myalgia |
OMIM:619024 |
Anal Sphincter Myopathy, Internal |
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Myopathy |
OMIM:105565 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
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Triceps weakness, Night sweats, Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscl... |
OMIM:619574 |
Spermatogenic Failure, Y-Linked, 1 |
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Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
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Male infertility, Reduced sperm motility |
OMIM:619380 |
Muscular Dystrophy, Duchenne Type |
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Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscu... |
OMIM:310200 |
Normokalemic Periodic Paralysis |
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Myotonia |
OMIM:170600 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
Hypokalemic Periodic Paralysis |
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Abnormal muscle fiber morphology, Episodic hypokalemia, Late-onset proximal muscle weakness, Incr... |
ORPHA:681 |
Spermatogenic Failure 42 |
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Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Nemaline Myopathy 3 |
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Proximal muscle weakness, Neck flexor weakness, Limb muscle weakness, Respiratory insufficiency d... |
OMIM:161800 |
Myopathy, Myofibrillar, 7 |
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Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
Spermatogenic Failure 54 |
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Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Pparg-Related Familial Partial Lipodystrophy |
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Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Maternal diabet... |
ORPHA:79083 |
Spastic Paraplegia 63, Autosomal Recessive |
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Skeletal muscle atrophy |
OMIM:615686 |
Marinesco-Sjögren Syndrome |
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Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal muscle atrophy, Abnorma... |
ORPHA:559 |
Spinal Muscular Atrophy, X-Linked 2 |
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Myopathy, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture, Multiple joint c... |
OMIM:301830 |
Glycogen Storage Disease X |
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Elevated circulating creatine kinase concentration, Myopathy, Rhabdomyolysis, Exercise-induced my... |
OMIM:261670 |
Spermatogenic Failure 39 |
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Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 47 |
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Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
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Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated circulat... |
OMIM:615418 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
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Hyperkalemia, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, E... |
ORPHA:57 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
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Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
Cysticercosis |
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Infectious encephalitis, Abnormal skeletal muscle morphology, Ataxia, Increased circulating antib... |
ORPHA:1560 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
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Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
Autosomal Recessive Spastic Paraplegia Type 63 |
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Skeletal muscle atrophy |
ORPHA:401805 |
Cardiomyopathy, Dilated, 1E |
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Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Pure Mitochondrial Myopathy |
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Proximal amyotrophy, Pelvic girdle muscle weakness, Exercise-induced muscle fatigue, Quadriceps m... |
ORPHA:254854 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Failure to thrive in infancy, Increased intramyocellular lipid droplets, Short stature, Increased... |
OMIM:619065 |
Deafness-Infertility Syndrome |
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Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
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