| 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 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Lower limb muscle weaknes... |
OMIM:254130 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula... |
OMIM:617072 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:613530 |
| Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Foot dor... |
OMIM:601846 |
| 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 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulati... |
OMIM:604286 |
| Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Mildly elevated creatine kinase, Faci... |
OMIM:617030 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Highly elevated creatine kinase, Centrally nucleated skeletal muscle fibers, Increased variabilit... |
OMIM:618992 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... |
OMIM:613204 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Elevated circulating creatine kinase concentration... |
OMIM:605820 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Elevated circulati... |
ORPHA:611 |
| Miyoshi Muscular Dystrophy 3 |
|
Calf muscle hypertrophy, Muscular dystrophy, Quadriceps muscle atrophy, Elevated circulating crea... |
OMIM:613319 |
| Welander Distal Myopathy |
|
Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Limb-girdle muscle weakness, Elevate... |
OMIM:613818 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentratio... |
OMIM:609115 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... |
OMIM:611307 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Shoulder girdle muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concent... |
OMIM:310095 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulati... |
OMIM:608810 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
| Scapuloperoneal Myopathy, Myh7-Related |
|
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy |
OMIM:181430 |
| Gne Myopathy |
|
Mildly elevated creatine kinase, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variabi... |
ORPHA:602 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creatine kinase concentrat... |
OMIM:608807 |
| Muscular dystrophy, limb-girdle, type 2R |
|
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy |
OMIM:615325 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... |
OMIM:300717 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:601287 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal amyotrophy |
OMIM:612998 |
| Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Elevated... |
OMIM:603511 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
| Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
| Dpm3-Cdg |
|
Elevated creatine kinase after exercise, Calf muscle hypertrophy, Muscular dystrophy, Pelvic gird... |
ORPHA:263494 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Elevated circulating creatine kinase conce... |
OMIM:604801 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly elevated cre... |
ORPHA:603 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, ... |
OMIM:613723 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:613152 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... |
ORPHA:267 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital muscular dystrophy, Generalized amyotrophy, Elevated circulating creatine kinase conce... |
OMIM:613205 |
| Myopathy, Myofibrillar, 5 |
|
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Muscle fiber splitting... |
OMIM:609524 |
| Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness, Foot dorsifle... |
OMIM:158901 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal amyotrophy |
OMIM:612999 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy |
OMIM:613158 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... |
ORPHA:1878 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Elevated circulating cre... |
OMIM:611615 |
| Myopathy, Myofibrillar, 3 |
|
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Distal amyotrophy, Ach... |
OMIM:609200 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration,... |
OMIM:611705 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myopathy |
OMIM:609500 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
| 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 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Muscular dystrophy, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:253600 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:616094 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... |
ORPHA:266 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulating creatine kinase concentrati... |
OMIM:609308 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Hyperlordosis, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy |
OMIM:618129 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... |
OMIM:300695 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Elevated circulatin... |
OMIM:616827 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy, Elevated circula... |
OMIM:616209 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle pseudohypertr... |
OMIM:300376 |
| Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... |
ORPHA:178400 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
| Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... |
OMIM:608099 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Muscular dystrophy, Elevated circulating creatine kinase... |
OMIM:616516 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Generalized amyotrophy, Myopathy |
OMIM:618323 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Elevated circulating creat... |
OMIM:607855 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Weakness of orb... |
OMIM:500002 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle pseudohypertr... |
ORPHA:62 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Hypoglycosylation of alph... |
OMIM:615352 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Elevated circ... |
OMIM:123320 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion contracture |
OMIM:613869 |
| Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creatine kinase concentrat... |
OMIM:612954 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Hypoglycosylation of alph... |
OMIM:615350 |
| Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy |
OMIM:253590 |
| Muscular Dystrophy, Scapulohumeral |
|
Scapulohumeral muscular dystrophy |
OMIM:600416 |
| Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:208100 |
| Bethlem Myopathy 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... |
OMIM:616471 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Spondylolisthesis, Rimmed vacuoles, Ragged-red muscle fibers, M... |
ORPHA:270 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:309930 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... |
ORPHA:370980 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Congenital muscular dystr... |
OMIM:602541 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Elevated circulating creatine kinase concentration, Congenital ... |
ORPHA:972 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... |
OMIM:612937 |
| Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion contracture, Skel... |
OMIM:611588 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Elevated circulating creatine k... |
ORPHA:280333 |
| Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| 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 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Congenital muscular dystrophy, Muscular dystrophy, Elevated circulating creatine kinase concentra... |
OMIM:613151 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... |
OMIM:619477 |
| Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Facial palsy, Lumbar hyperlordosis, Myopathy |
OMIM:253320 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... |
OMIM:618484 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Muscular dystrophy |
OMIM:615041 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Elevated ... |
OMIM:616924 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase conce... |
OMIM:613155 |
| Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex co... |
OMIM:611369 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... |
ORPHA:437572 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
| 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 |
| Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... |
ORPHA:598 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Elevated circulatin... |
OMIM:158900 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Mildly elevated creatine kinase, Skeletal muscle atrophy, Distal amyotrophy |
OMIM:614369 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal amyotrophy |
OMIM:606768 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Elevated circul... |
OMIM:615351 |
| Bethlem Myopathy 1 |
|
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... |
OMIM:158810 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentration, Lim... |
ORPHA:369840 |
| Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... |
OMIM:602771 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion contracture |
OMIM:613154 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... |
OMIM:616470 |
| Myopathy With Giant Abnormal Mitochondria |
|
Limb-girdle muscle atrophy, Myopathy |
OMIM:255140 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
| Neuropathy, Painful |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:256870 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Elevated circulat... |
OMIM:616052 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Elevated circ... |
OMIM:255160 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... |
OMIM:618138 |
| Rigid Spine Syndrome |
|
Hamstring contractures, Hip contracture, Spinal rigidity, Scoliosis, Hyperlordosis, Elbow flexion... |
ORPHA:97244 |
| Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
| Myopathy, Centronuclear, 2 |
|
Kyphosis, Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Scol... |
OMIM:255200 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:171442 |
| Factor Vii Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Intramuscular hematoma... |
OMIM:227500 |
| Nemaline Myopathy 7 |
|
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Weakness of facial musculature, Minicore m... |
OMIM:610687 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... |
ORPHA:596 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Scoliosis, Type 1 m... |
ORPHA:424107 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Scoliosis, Myopathy |
ORPHA:50817 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... |
ORPHA:2926 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... |
OMIM:226670 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:614302 |
| Familial Cervical Artery Dissection |
|
Carotid artery dilatation, Transient ischemic attack, Stroke, Carotid artery dissection, Recurren... |
ORPHA:36382 |
| Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Elevated circulating c... |
OMIM:160500 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
| Distal Myotilinopathy |
|
Multiple joint contractures, EMG: myopathic abnormalities, Elevated circulating creatine kinase c... |
ORPHA:98911 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Lumbar hyperlordosis, Back pain, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed v... |
OMIM:167320 |
| Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Kyphosis, Nonprogressive muscular atrophy, Scoliosis, Spinal muscular atrophy, D... |
OMIM:600175 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Scoliosis, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Myopathy |
OMIM:605637 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Elevated circulating creatine kinase... |
OMIM:619518 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness, Scoliosis |
OMIM:611225 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
| Nemaline Myopathy 2 |
|
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... |
OMIM:256030 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, Elevated circulatin... |
OMIM:615980 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
| King-Denborough Syndrome |
|
Kyphoscoliosis, Muscle fiber atrophy, Lumbar hyperlordosis, Weakness of facial musculature, Minic... |
OMIM:619542 |
| Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated c... |
OMIM:606070 |
| Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Scoliosis, S... |
OMIM:609284 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
| Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Foot dorsiflexor weakness |
OMIM:617087 |
| Myasthenic Syndrome, Congenital, 14 |
|
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Mildly elevated creat... |
OMIM:616228 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
| Bethlem Myopathy |
|
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... |
ORPHA:610 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
| Myasthenic Syndrome, Congenital, 5 |
|
Type 2 muscle fiber atrophy, Scoliosis, Hyperlordosis, Limb muscle weakness, Decreased muscle mas... |
OMIM:603034 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Scoliosis, Myopathy |
OMIM:255100 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Abnormality of the calf musculatu... |
ORPHA:399081 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Elevated circulating creatine... |
OMIM:615368 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy |
ORPHA:178145 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated ... |
OMIM:255310 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Increased serum pyruvate, Myopathy |
OMIM:545000 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Scapular winging, Elevated circulating creatine kinase concentration, Joint cont... |
OMIM:617258 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscular atrophy |
ORPHA:459033 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy |
OMIM:607091 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Increased serum pyruvate |
OMIM:300816 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... |
OMIM:619216 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
| Pleoconial Myopathy With Salt Craving |
|
Myopathy, Proximal amyotrophy |
OMIM:262900 |
| Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis, Flexion contracture |
OMIM:168400 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... |
OMIM:613954 |
| Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... |
OMIM:605355 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, Elevated ... |
OMIM:606612 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Myofibrillar my... |
OMIM:609452 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Central... |
OMIM:248800 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Prolonged bleeding following circumcision, P... |
ORPHA:325 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Myopathy, Hyperlordosis |
ORPHA:408 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Increased serum pyruvate, Elevated circulating c... |
OMIM:500009 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Skeletal muscle atr... |
OMIM:617070 |
| Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Intramuscular hematoma, Gingival bleeding... |
OMIM:227600 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis, Myopathy |
OMIM:618234 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... |
OMIM:614399 |
| Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Kyphoscolios... |
ORPHA:597 |
| Anal Sphincter Myopathy, Internal |
|
Myopathy |
OMIM:105565 |
| Myopathy, Spheroid Body |
|
Skeletal muscle atrophy, Myopathy, Proximal amyotrophy |
OMIM:182920 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
| Hemophilia A |
|
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
| Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia, Myopathy |
ORPHA:104 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... |
ORPHA:352479 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... |
OMIM:310300 |
| Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... |
ORPHA:272 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Flexion contracture, Generalized weakness of limb muscles, Limb-girdle musc... |
ORPHA:353327 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... |
ORPHA:169186 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... |
OMIM:609285 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Generalized limb muscle atrophy, Kyphosis, Scoliosis, Myopathy |
ORPHA:2598 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased va... |
ORPHA:171439 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... |
ORPHA:397744 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, Flexion contracture, Increased variability in muscle fiber di... |
OMIM:254090 |
| Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
| Moderate Hemophilia A |
|
Joint hemorrhage, Hip contracture, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with mi... |
ORPHA:169805 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated creatine kinase |
ORPHA:663 |
| Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration |
OMIM:619024 |
| Severe Hemophilia A |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Subdural hemorrhage, Persistent blee... |
ORPHA:169802 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis, Proximal amyotrophy, Spinal muscular atrophy |
OMIM:271200 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Proximal muscle weakness in lower limbs, Scoliosis, Skeletal muscle atrophy,... |
OMIM:310440 |
| Myopathy, Congenital, With Tremor |
|
Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, EMG: myopathic abnormalities, Scolios... |
OMIM:618524 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Myopathy, Facial palsy, Skeletal muscle atrophy, Flexion contracture |
OMIM:616313 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage |
OMIM:603284 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Limb-girdle muscle weakness, Myopathy, Hyperlordosis |
ORPHA:352470 |
| Duchenne And Becker Muscular Dystrophy |
|
Hyperlordosis, Skeletal muscle atrophy, Myopathy, Scoliosis |
ORPHA:262 |
| Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... |
ORPHA:331 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Flexion contracture, Scoliosis, Spinal muscular atrophy, Arthrogrypo... |
OMIM:301830 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Elevated circ... |
ORPHA:206559 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakn... |
OMIM:619574 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Short n... |
ORPHA:178148 |
| Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Congenital muscular dystrophy, EMG: myopathic abnormalities, Facial palsy, Limb muscle weakness |
OMIM:601170 |
| Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Arthrogryposis m... |
OMIM:619334 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... |
ORPHA:98855 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Facial palsy, Scoliosis, Flexion contracture |
OMIM:201470 |
| Nemaline Myopathy 8 |
|
Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture |
OMIM:615348 |
| Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
ORPHA:254864 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Kyphosis, Neonatal death, Flexion contracture |
OMIM:618237 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Flexion contracture, Hyperlordosis, Skeletal muscle atrophy, Myopathy |
ORPHA:157973 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:615181 |
| Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... |
ORPHA:326 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... |
ORPHA:284388 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... |
ORPHA:98863 |
| Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... |
ORPHA:98902 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Muscular dystrophy, Myopathy |
OMIM:307030 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy |
OMIM:300219 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Abnormal circulating creatin... |
OMIM:617336 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
OMIM:613225 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Kyphoscoliosis, Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
| +173470 integrin, beta-3 |
|
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... |
OMIM:173470 |
| Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... |
ORPHA:98853 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Art... |
OMIM:616867 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Snakebite Envenomation |
|
Muscle fiber necrosis, Stroke, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Cardiogen... |
ORPHA:449285 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration... |
OMIM:609560 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Increased serum pyruvate |
OMIM:616794 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... |
ORPHA:465 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis, Distal upper limb amyotrophy, Distal lower limb amyotrophy |
ORPHA:101075 |
| Marinesco-Sjögren Syndrome |
|
Muscular dystrophy, Abnormal circulating creatine kinase concentration, Aplasia/Hypoplasia involv... |
ORPHA:559 |
| Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology, Episodic hypokalemia... |
ORPHA:681 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
| Myopathy And Diabetes Mellitus |
|
Weakness of facial musculature, Pelvic girdle muscle weakness, Weakness of orbicularis oculi musc... |
ORPHA:2596 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy |
OMIM:605809 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Mildly elevate... |
ORPHA:1145 |
| Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:613153 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy |
ORPHA:324416 |
| Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Elevate... |
OMIM:310200 |
| Glanzmann Thrombasthenia 1 |
|
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... |
OMIM:273800 |
| Typical Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Kyphosis, Spinal rigidity, Flexion contracture, Increased varia... |
ORPHA:171436 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Weakness of faci... |
ORPHA:536516 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Elevated... |
OMIM:607155 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Muscle fiber atrophy, Elevated creatine kinase after exercise, EMG: myopathic abnormalities, Exer... |
ORPHA:57 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Kyphosis, Spinal rigidity, Weakness of facial musculature, Neuropathic spinal arthropathy, Ragged... |
ORPHA:352447 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
| Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Hematemesis, Subdural hemorrhage, Persistent bleeding after tr... |
OMIM:202400 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy |
OMIM:615511 |
| Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Kyphosis, Proximal muscle weakness in lower limbs, Lower limb amyotrophy, Scolio... |
OMIM:615290 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Camptodactyly, Knee flexi... |
OMIM:608799 |
| Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Ske... |
OMIM:618393 |
| Myopathy Due To Malate-Aspartate Shuttle Defect |
|
Myopathy |
OMIM:254960 |
| Neutral Lipid Storage Disease With Myopathy |
|
Increased muscle lipid content, Cardiomyopathy, Myopathy |
OMIM:610717 |
| Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... |
ORPHA:206569 |
| Nemaline Myopathy 3 |
|
Nemaline bodies, Spinal rigidity, EMG: myopathic abnormalities, Scoliosis, Type 1 muscle fiber pr... |
OMIM:161800 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... |
OMIM:613327 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Nemaline bodies, Flexion contracture, Short neck, Thoracolumbar ... |
OMIM:616549 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:618236 |
| Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Bruising susceptibility, Post-partum hemorrhage, Intracranial hemorrhage, Menor... |
ORPHA:327 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Skeletal muscle atrophy, Scoliosis |
ORPHA:101078 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... |
OMIM:607459 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:615287 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... |
ORPHA:171881 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Intrinsic hand muscle atrophy, Back pain, EMG: myopathic abnormalities, Rimmed v... |
ORPHA:329478 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Myopathy, Macroglossia, Skeletal muscle hypertrophy |
ORPHA:2349 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
| Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Skeletal muscle atrophy |
OMIM:230650 |
| Sneddon Syndrome |
|
Stroke, Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke |
OMIM:182410 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy |
OMIM:618242 |
| Glycogen Storage Disease X |
|
Rhabdomyolysis, Myopathy |
OMIM:261670 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Subarachnoid hemorrhage, Purpura, ... |
ORPHA:853 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexor weakness, Fiber typ... |
OMIM:620011 |
| Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:212350 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis, Congenital foot contractures, Distal amyotrophy |
ORPHA:3454 |
| Atrial Standstill |
|
Left ventricular noncompaction, Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture |
ORPHA:1344 |
| Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture |
ORPHA:171719 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion contracture |
OMIM:615249 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis... |
OMIM:154275 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Triceps weakness, EMG: myopathic abnormalities, Facial palsy, Scoliosis, Type 1 muscle fiber pred... |
ORPHA:98913 |
| Extracranial Carotid Artery Aneurysm |
|
Stroke, Upper limb muscle weakness, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total... |
ORPHA:494424 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... |
OMIM:601462 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... |
OMIM:258450 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Kyphoscoliosis, Distal amyotrophy |
OMIM:619099 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, El... |
ORPHA:52430 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle at... |
OMIM:608931 |
| Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... |
ORPHA:171433 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Kyphosis, Progressive... |
OMIM:181405 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:613150 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Myopathy |
ORPHA:26792 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage |
ORPHA:98880 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Weakness of facial musculature, Scoliosis, Spinal muscular atrophy, Skeletal muscle atrophy, Myop... |
ORPHA:254875 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of alpha-dystroglycan, Macroglossia, S... |
ORPHA:370959 |
| Myofibrillar Myopathy 10 |
|
Kyphosis, Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrop... |
OMIM:619040 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis... |
OMIM:154276 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Skeletal muscle atr... |
OMIM:618291 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevation, Foot dorsiflexor we... |
ORPHA:263297 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun... |
ORPHA:136 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Ragged-red muscle fibers, Facial pa... |
ORPHA:254886 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Scoliosis,... |
OMIM:609813 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Abnormal circulating meth... |
ORPHA:88618 |
| Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Elevated circulating creatine k... |
ORPHA:565899 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
EMG: myopathic abnormalities, Left ventricular hypertrophy, Elevated circulating creatine kinase ... |
OMIM:615418 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... |
ORPHA:40 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Muscle fiber atrophy, Elevated circulating long... |
ORPHA:228302 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:613630 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
| Adrenomyodystrophy |
|
Myopathy |
OMIM:300270 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... |
ORPHA:254361 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Glycogen Storage Disease Iii |
|
Cardiomyopathy, Myopathy, Distal amyotrophy |
OMIM:232400 |
| Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Fetal Gaucher Disease |
|
Flexion contracture, Intracranial hemorrhage, Neonatal death, Arthrogryposis multiplex congenita,... |
ORPHA:85212 |
| Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita |
OMIM:254210 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral ischemia, Sync... |
ORPHA:90065 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:616538 |
| Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscle fiber atrophy, Macroglossia, Flexion contracture, Absent muscle fiber merosin, Muscular dy... |
ORPHA:258 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance |
OMIM:619173 |
| Brachyolmia Type 1, Hobaek Type |
|
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Weakness of facial musculature, Increased variability in muscle fiber diameter, Elbow flexion con... |
OMIM:619461 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... |
OMIM:616866 |
| Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... |
ORPHA:99147 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia |
OMIM:615524 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Atrioventricular block, Left bundle branch block, Congestive heart failure, Stroke, Sudden cardia... |
OMIM:115197 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... |
ORPHA:251274 |
| Adrenal Hypoplasia, Congenital |
|
Muscular dystrophy, Hyponatremia |
OMIM:300200 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis, Skeletal muscle hypertrophy |
ORPHA:99014 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance |
OMIM:619028 |
| Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Lower limb hypertonia |
OMIM:610246 |
| Dpm1-Cdg |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Knee flexion contracture,... |
ORPHA:79322 |
| Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... |
ORPHA:53719 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Cardiomyopathy, Myopathy |
OMIM:617713 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Kyphosis, Short neck, Scoliosis, Neonatal death, Arthrogryposis multiplex congen... |
OMIM:611890 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... |
OMIM:605714 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... |
ORPHA:600 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber ... |
ORPHA:79083 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber... |
ORPHA:2348 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, EMG: myopathic abnormalities, Sudden cardiac death, Dilated cardiomyopathy... |
ORPHA:99901 |
| Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... |
ORPHA:31825 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... |
OMIM:157640 |
| Walker-Warburg Syndrome |
|
Abnormal circulating creatine kinase concentration, Muscular dystrophy, Aplasia/Hypoplasia involv... |
ORPHA:899 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
EMG: myopathic abnormalities, Upper limb muscle weakness, Lower limb muscle weakness, Distal amyo... |
ORPHA:99939 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2141 |
| Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Stroke, Intracranial hemorrhage |
ORPHA:140989 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Scoliosis, Myopathy |
ORPHA:369847 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Firm muscles, Kyphoscoliosis, Vertebral wedging, Skeletal muscle hypertrophy |
OMIM:255710 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Congenital diaphragmatic hernia |
OMIM:601163 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Coronary artery atherosclerosis... |
ORPHA:280679 |
| Dural Sinus Malformation |
|
Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal facial vein mor... |
ORPHA:97339 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased intramyocellular lipid droplets, Rhabdomyolysis, Palpitations, Myopathy |
OMIM:255125 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Mildly elevated creatine kinase, Proximal amyotrophy |
OMIM:159400 |
| Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb muscle weakness, Lower limb hype... |
ORPHA:99013 |
| Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Facial myokymia |
OMIM:620007 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Decreased muscle mass |
OMIM:616507 |
| Stormorken Syndrome |
|
Abnormal bleeding, Epistaxis, Stroke-like episode, Myopathy |
OMIM:185070 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
| Glycogen Storage Disease Xii |
|
Hyperbilirubinemia, Increased variability in muscle fiber diameter, Elevated circulating creatine... |
OMIM:611881 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Distal lower limb muscle ... |
OMIM:500013 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Hypertrophic card... |
ORPHA:464321 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circulating creatine ... |
OMIM:619424 |
| Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time |
ORPHA:49566 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Venous insuf... |
ORPHA:624 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Reduced muscle carnitine level, Myopathy, Congestive heart failure |
OMIM:212140 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Knee flexion contracture |
OMIM:313420 |
| Hereditary Hemorrhagic Telangiectasia |
|
