| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... |
OMIM:601954 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... |
OMIM:254110 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Flexion contracture, Increased endomysial connective tissue, Elevated circula... |
OMIM:617072 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... |
OMIM:617158 |
| Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content, Elevated circulating creatine kinase concentration |
OMIM:612932 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, E... |
OMIM:613530 |
| Vacuolar Neuromyopathy |
|
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... |
OMIM:601846 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... |
OMIM:604286 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creatine kinase concentrat... |
OMIM:253601 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Highly elevated creatine kinase, ... |
OMIM:618848 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... |
OMIM:618655 |
| Tibial Muscular Dystrophy |
|
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Mildly ele... |
ORPHA:609 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... |
OMIM:608358 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase... |
OMIM:613818 |
| Myopathy, Distal, 5 |
|
Mildly elevated creatine kinase, Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Musc... |
OMIM:617030 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Highly elevated creatine kinase, Myopathy, Centrally nucleated skeletal muscle fibers, Increased ... |
OMIM:618992 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Congenital muscular dystrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
OMIM:613204 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... |
OMIM:605820 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... |
OMIM:608423 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... |
ORPHA:2593 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... |
ORPHA:611 |
| Miyoshi Muscular Dystrophy 3 |
|
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Muscular dystrophy, ... |
OMIM:613319 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... |
OMIM:603511 |
| Welander Distal Myopathy |
|
Mildly elevated creatine kinase, Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... |
OMIM:609115 |
| Myopathy, Distal, 3 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Mildly elevated creatine kinase, Distal amyotro... |
OMIM:610099 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... |
OMIM:158600 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle ... |
OMIM:611307 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging, Elevated circulating creat... |
OMIM:310095 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Scapular winging, Restricted neck movement due to contractures, Peroneal muscle atrophy, Muscular... |
OMIM:181350 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Elevated circulating creat... |
OMIM:608810 |
| Gne Myopathy |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Mildly elevated c... |
ORPHA:602 |
| Scapuloperoneal Myopathy, Myh7-Related |
|
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature |
OMIM:181430 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Elevated... |
OMIM:615422 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Congenital muscular dystrophy, Mildly elevated creatine kinase, Flexion contracture, Shoulder gir... |
OMIM:609456 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Pelvic girdle muscle weak... |
ORPHA:34515 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Muscular dystro... |
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 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... |
OMIM:300717 |
| Oculopharyngodistal Myopathy 2 |
|
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Elevated c... |
OMIM:618940 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Elevated circulating creatine kinase c... |
OMIM:601287 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Muscular dystr... |
OMIM:613152 |
| Central Core Disease Of Muscle |
|
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... |
OMIM:117000 |
| Dpm3-Cdg |
|
Muscular dystrophy, Pelvic girdle muscle weakness, Elevated creatine kinase after exercise, Rimme... |
ORPHA:263494 |
| Muscular Dystrophy, Congenital, 1B |
|
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... |
OMIM:604801 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Distal Myopathy, Welander Type |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Mildly elevated creatine kinase, Rim... |
ORPHA:603 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Myopathy, Scapulohumeroperoneal |
|
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... |
OMIM:616852 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture, Skel... |
OMIM:613723 |
| Myopathy, Centronuclear, 1 |
|
Hyperlordosis, EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Ce... |
OMIM:160150 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, Muscular dystrop... |
ORPHA:267 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Flexion contra... |
OMIM:613205 |
| Myopathy, Myofibrillar, 5 |
|
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Muscle fiber cytoplasm... |
OMIM:609524 |
| Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Scapular winging, Pelvic girdle muscle weakness, Facial palsy, Scapulohumeral muscular dystrophy,... |
OMIM:158901 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Myop... |
ORPHA:1878 |
| Hereditary Myopathy With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... |
ORPHA:178464 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Proximal amyotrophy |
OMIM:612999 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Limb-girdle muscular dystrophy, Mildly elevated creatine kinase, Muscle fiber inclusion bodies, R... |
OMIM:615424 |
| Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Elev... |
OMIM:609200 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles |
OMIM:615426 |
| Salih Myopathy |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Elevated circulati... |
OMIM:611705 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... |
OMIM:500002 |
| Muscular Dystrophy, Congenital, Producing Arthrogryposis |
|
Congenital muscular dystrophy, Myopathy, Arthrogryposis multiplex congenita |
OMIM:253900 |
| Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Elevated circulating creatine kinase concentration, Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... |
OMIM:255160 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... |
ORPHA:86812 |
| Myofibrillar Myopathy 11 |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... |
OMIM:619178 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:616094 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrophy |
OMIM:613158 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Elevated circulating creati... |
OMIM:609308 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Spinal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy |
OMIM:271220 |
| Nemaline Myopathy 6 |
|
Myopathy, Nemaline bodies, Limb muscle weakness |
OMIM:609273 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, EMG: myopathic abnormalities, Hypercholestero... |
ORPHA:488650 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Scapular winging, Scapuloperoneal myopathy, Arrhythmia, Flexion contracture, Lower limb muscle we... |
OMIM:300695 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... |
OMIM:618823 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Hyperlordosis, Scapular winging, Proximal amyotrophy, Back pain, Myopathy, Muscle fiber splitting |
OMIM:618129 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Muscular dystrophy, Triangular tongue, Skeletal muscle atrophy, Elevated circulatin... |
OMIM:616827 |
| Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Calf muscle pseudohypertr... |
OMIM:300376 |
| Distal Myopathy With Anterior Tibial Onset |
|
Abnormal circulating creatine kinase concentration, Intrinsic hand muscle atrophy, Weakness of th... |
ORPHA:178400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Lim... |
OMIM:608099 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Inc... |
OMIM:616516 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Scoliosis, Kyphosis, Flexion contracture, Generalized amyotrophy, Spinal rigidity, Myopathy |
OMIM:618323 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Proximal muscle weakn... |
ORPHA:457050 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Hypoglycosylation of alph... |
OMIM:615352 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Scapular winging, Muscular dystrophy, Achilles tendon contracture, Calf muscle pseudohypertrophy,... |
ORPHA:62 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Flexion contracture, Facial palsy, Ele... |
OMIM:253600 |
| Creatine Phosphokinase, Elevated Serum |
|
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Increased endo... |
OMIM:607855 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture |
OMIM:613869 |
| Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Generalized amyotrophy, Facial palsy, Knee flex... |
OMIM:612954 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... |
ORPHA:206549 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrophy |
OMIM:613157 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Abnormal circulating creatine kinase concentration, EMG: myopathic abnormalities, Facial diplegia... |
ORPHA:399058 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... |
ORPHA:34516 |
| 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 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... |
OMIM:619042 |
| Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:309930 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Rimmed vacuoles, Elevated circulating creatine kinase concentrati... |
OMIM:612937 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Spondylolisthesis, Rimmed vacuoles, Myopathy, Ragged-red muscle... |
ORPHA:270 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... |
OMIM:253700 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Elevated circulating creatine ki... |
OMIM:602541 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Elevated circulating creatine kinase concentration, Congenital ... |
ORPHA:972 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Hypoglycosylation of alph... |
OMIM:615350 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy |
OMIM:208100 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
EMG: myopathic abnormalities, Proximal amyotrophy, Congenital muscular dystrophy, Mildly elevated... |
ORPHA:370980 |
| Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrop... |
OMIM:611588 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Elevated... |
OMIM:616812 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Limb-girdle muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle p... |
ORPHA:280333 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Muscular dystr... |
OMIM:613151 |
| Myopathy, Distal, 4 |
|
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Ab... |
OMIM:614065 |
| Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... |
OMIM:160565 |
| Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Lumbar hyperlordosis, Myopathy, Facial palsy |
OMIM:253320 |
| Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Kyphosis |
OMIM:616471 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum pyruvate, Increased intramyocellular lipid droplets, Weakness of facial musculature |
OMIM:619062 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... |
OMIM:616924 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Muscular dystrophy |
OMIM:615041 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
EMG: myopathic abnormalities, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Sk... |
OMIM:608840 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Mildly elevated creatine kinase, Centrally nucleated skeletal muscle fibers, Central core regions... |
ORPHA:401768 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Facial pals... |
OMIM:613155 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Centrally nucleated skeletal muscle fibe... |
OMIM:618484 |
| Myopathy, Centronuclear, 2 |
|
Scoliosis, EMG: myopathic abnormalities, Hyperlordosis, Scapular winging, Kyphosis, Flexion contr... |
OMIM:255200 |
| Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... |
ORPHA:598 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle ... |
OMIM:611369 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... |
OMIM:255320 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Elevated circulating creatine kinase concentration, Scapular winging, Rimmed vacuoles, Flexion co... |
OMIM:300696 |
| Bethlem Myopathy 1 |
|
Camptodactyly of finger, Congenital muscular torticollis, Torticollis, Skeletal muscle atrophy, M... |
OMIM:158810 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Mildly elevated creatine kinase, Distal amyotrophy, Skeletal muscle atrophy |
OMIM:614369 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal amyotrophy |
OMIM:606768 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... |
ORPHA:437572 |
| Myopathy, Distal, 1 |
|
Mildly elevated creatine kinase, Type 1 muscle fiber predominance, Amyotrophy of ankle musculatur... |
OMIM:160500 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Shoulder girdle muscle atrophy, Scapular winging, Shoulder girdle muscle weakness, Facial palsy, ... |
OMIM:158900 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Muscular dystrophy, Limb-girdle muscular dyst... |
ORPHA:369840 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... |
OMIM:300718 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture |
OMIM:613154 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... |
OMIM:603689 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Mildly elevated creatine kinase, Wea... |
ORPHA:399086 |
| Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy |
OMIM:614915 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alph... |
OMIM:615351 |
| Myopathy With Giant Abnormal Mitochondria |
|
Myopathy, Limb-girdle muscle atrophy |
OMIM:255140 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:182970 |
| Neuropathy, Painful |
|
Lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:256870 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in upper li... |
ORPHA:276435 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Centrally nucleated skeletal muscl... |
ORPHA:486815 |
| Adult-Onset Nemaline Myopathy |
|
EMG: myopathic abnormalities, Increased muscle lipid content, Mildly elevated creatine kinase, Fl... |
ORPHA:171442 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... |
OMIM:616470 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... |
OMIM:616052 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... |
OMIM:618138 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Ocular Myopathy With Curare Sensitivity |
|
Myopathy, Limb muscle weakness |
OMIM:257600 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, Epistaxis, ... |
OMIM:227500 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... |
OMIM:618654 |
| Rigid Spine Syndrome |
|
Scoliosis, Hyperlordosis, Hamstring contractures, Spinal rigidity, Skeletal muscle atrophy, Hip c... |
ORPHA:97244 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
| Parastremmatic Dwarfism |
|
Scoliosis, Kyphosis, Flexion contracture, Short neck |
OMIM:168400 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Scoliosis, EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Mult... |
ORPHA:424107 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Abnormal circulating lipi... |
OMIM:615980 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Scoliosis, Myopathy |
ORPHA:50817 |
| Nemaline Myopathy 7 |
|
Myofibrillar myopathy, Nemaline bodies, Minicore myopathy |
OMIM:610687 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... |
ORPHA:2926 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
| Internal Carotid Absence |
|
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia |
ORPHA:981 |
| Zebra Body Myopathy |
|
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... |
ORPHA:97240 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Multiple joint contractures, Distal... |
ORPHA:98911 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal l... |
OMIM:600175 |
| Nemaline Myopathy 2 |
|
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... |
OMIM:256030 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:614302 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Scoliosis, Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy |
OMIM:605637 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Kyphosis, Lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:611225 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
| Aneurysm, Intracranial Berry, 12 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm |
OMIM:618734 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| B4Galt1-Cdg |
|
Myopathy |
ORPHA:79332 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Nemaline Myopathy 1 |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scoliosis, Flexion contracture, Dis... |
OMIM:609284 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis, Foot dorsiflexor weakness |
OMIM:617087 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Scoliosis, Myopathy, Fatty replacement of skeletal muscle |
OMIM:255100 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial ... |
OMIM:300580 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... |
ORPHA:98905 |
| Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
| Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... |
OMIM:602771 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Decreased plasma carnitine, Macroglossia, Increased muscle lip... |
OMIM:500009 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... |
ORPHA:399081 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Mildly elevated creatine kinase, Flexion contracture, Ragged-red muscle fibers,... |
OMIM:616228 |
| Bethlem Myopathy |
|
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... |
ORPHA:610 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... |
ORPHA:353 |
| Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis, Decreased muscle mass, Type 2 muscle fiber atrophy, Myopathy, Limb musc... |
OMIM:603034 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... |
OMIM:255310 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... |
OMIM:617258 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... |
OMIM:167320 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Increased serum pyruvate, Ragged-red muscle fibers |
OMIM:545000 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy |
ORPHA:178145 |
| Nemaline Myopathy 5 |
|
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... |
OMIM:605355 |
| Lethal Congenital Contracture Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:615368 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... |
OMIM:248800 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy |
OMIM:607091 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Skeletal mu... |
OMIM:613156 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Distal lower limb muscle weakness, Muscular dystrophy, Progressive distal muscular atrophy |
ORPHA:459033 |
| Congenital Factor Ii Deficiency |
|
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... |
ORPHA:325 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Elevated circulating creatine kinase concentra... |
OMIM:609452 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Calf muscle hy... |
ORPHA:119 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Proximal muscle weakness in ... |
OMIM:619216 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Pleoconial Myopathy With Salt Craving |
|
Myopathy, Proximal amyotrophy |
OMIM:262900 |
| Glycogen Storage Disease Ixb |
|
Increased muscle glycogen content |
OMIM:261750 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Proximal amyotrophy, ... |
OMIM:606612 |
| Familial Cervical Artery Dissection |
|
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Facial palsy, Dilat... |
ORPHA:36382 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
| Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, Epistaxis, Menorrhagia, Gingiv... |
OMIM:227600 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Myopathy, Hyperlordosis |
ORPHA:408 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Skeletal muscle atr... |
OMIM:617070 |
| Hemophilia A |
|
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... |
ORPHA:98878 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... |
ORPHA:75840 |
| Myopathy, Spheroid Body |
|
Myopathy, Skeletal muscle atrophy, Proximal amyotrophy |
OMIM:182920 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Scoliosis, Myopathy, Kyphosis |
OMIM:618234 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, I... |
ORPHA:79 |
| Childhood-Onset Nemaline Myopathy |
|
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... |
ORPHA:171439 |
| Anal Sphincter Myopathy, Internal |
|
Myopathy |
OMIM:105565 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Nemaline bodies |
OMIM:618246 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... |
ORPHA:352479 |
| Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Type 1 muscle fiber predomi... |
ORPHA:597 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Autosomal Recessive Centronuclear Myopathy |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, G... |
ORPHA:169186 |
| Distal Nebulin Myopathy |
|
EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, Nemaline bodies, Sternoclei... |
ORPHA:399103 |
| Autosomal Dominant Centronuclear Myopathy |
|
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Centrally nucleated skeletal muscl... |
ORPHA:169189 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Type 1 muscle fiber atrophy, Achilles tendon contracture, Sudden cardiac death, Atrial arrhythmia... |
OMIM:310300 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Hemophilia B |
|
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Int... |
ORPHA:98879 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Lower limb muscle weakness, Myopat... |
ORPHA:397744 |
| Laing Early-Onset Distal Myopathy |
|
Scoliosis, EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi... |
ORPHA:59135 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scoliosis, Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion c... |
ORPHA:353327 |
| Moderate Hemophilia A |
|
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... |
ORPHA:169805 |
| Nemaline Myopathy 4 |
|
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... |
OMIM:609285 |
| Myopathy, Myofibrillar, 7 |
|
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... |
OMIM:617114 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Scoliosis, Myopathy, Generalized limb muscle atrophy, Kyphosis |
ORPHA:2598 |
| Severe Hemophilia A |
|
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... |
ORPHA:169802 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
| 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 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alpha-dyst... |
ORPHA:272 |
| Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Myopathy |
OMIM:616321 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Congenital muscular dystrophy, Mildly elevated creatine kinase, Flexi... |
OMIM:254090 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers |
OMIM:619024 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Scoliosis, Flexion contracture, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy,... |
OMIM:310440 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis, Spinal muscular atrophy, Proximal amyotrophy |
OMIM:271200 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Cerebral hemorrhage, Stroke |
OMIM:105150 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke |
OMIM:603284 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Myopathy, Flexion contracture, Facial palsy, Skeletal muscle atrophy |
OMIM:616313 |
| Myopathy, Congenital, With Tremor |
|
Scoliosis, EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Lumbar hyperlordo... |
OMIM:618524 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Scoliosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Mult... |
OMIM:301830 |
| Duchenne And Becker Muscular Dystrophy |
|
Scoliosis, Myopathy, Hyperlordosis, Skeletal muscle atrophy |
ORPHA:262 |
| Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Myopathy, Arrhythmia, Ventricular preexcitation |
ORPHA:104 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Hyperlordosis, Myopathy, Limb-girdle muscle weakness, Multiple joint contractures |
ORPHA:352470 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Decreased plasma carnitine, Macroglossia, Increased muscle lip... |
ORPHA:254864 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in mus... |
OMIM:619334 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Scoliosis, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion co... |
ORPHA:178148 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
EMG: myopathic abnormalities, Generalized amyotrophy, Elevated circulating creatine kinase concen... |
OMIM:609560 |
| Congenital Factor Xiii Deficiency |
|
Ecchymosis, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage,... |
ORPHA:331 |
| Congenital Factor X Deficiency |
|
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... |
ORPHA:328 |
| Abetal34V Amyloidosis |
|
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke |
ORPHA:324703 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Scoliosis, EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Hyperlord... |
ORPHA:98855 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Scoliosis, Myopathy, Flexion contracture, Facial palsy |
OMIM:201470 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Proximal amyotrophy, Limb-girdle muscular dystrophy, Elevated circulating creat... |
ORPHA:206559 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Flexion contracture, Nemaline bodies, Facial palsy |
OMIM:615348 |
| Classic Multiminicore Myopathy |
|
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... |
ORPHA:324604 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Arrhythmia, Ragged-red muscle fibers, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... |
OMIM:540000 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Hyperlordosis, Flexion contracture, Spinal rigidity, Skeletal muscle atrophy, Myopathy |
ORPHA:157973 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage |
OMIM:116860 |
| Amish Nemaline Myopathy |
|
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... |
ORPHA:98902 |
| Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... |
ORPHA:326 |
| Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left ventricular hypertrophy |
OMIM:611556 |
| Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
EMG: myopathic abnormalities, Facial palsy, Limb muscle weakness, Congenital muscular dystrophy |
OMIM:601170 |
| Glycerol Kinase Deficiency |
|
Myopathy, Hypertriglyceridemia, Muscular dystrophy |
OMIM:307030 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Myopathy, Increased mus... |
OMIM:610717 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Scoliosis, EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Short nec... |
ORPHA:98863 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:615181 |
| Glanzmann Thrombasthenia 1 |
|
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... |
OMIM:273800 |
| +173470 integrin, beta-3 |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis, Meno... |
OMIM:173470 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Hyperuricemia, Skeletal muscle atrophy |
ORPHA:371 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Episodic hypokalemia... |
ORPHA:681 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Generalized amyotrophy, Facial pal... |
OMIM:258450 |
| Snakebite Envenomation |
|
Cardiogenic shock, Ecchymosis, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Rhabdomyo... |
ORPHA:449285 |
| Emery-Dreifuss Muscular Dystrophy |
|
Scoliosis, EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Hyperlord... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Scoliosis, EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Hyperlord... |
ORPHA:98853 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Kyphoscoliosis |
ORPHA:300179 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Mi... |
ORPHA:1145 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Ragged-red muscle fibers |
OMIM:616794 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... |
ORPHA:284388 |
| Myopathic Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Congenital finger flexion contractures, Mildly elevated creatine kinase, C... |
ORPHA:536516 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy |
ORPHA:324416 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Scoliosis, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Kyphosis |
ORPHA:101075 |
| Marinesco-Sjögren Syndrome |
|
Abnormal circulating creatine kinase concentration, Muscular dystrophy, Aplasia/Hypoplasia involv... |
ORPHA:559 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... |
OMIM:613225 |
| Myopathy And Diabetes Mellitus |
|
Weakness of orbicularis oculi muscle, Proximal amyotrophy, Pelvic girdle muscle weakness, Achille... |
ORPHA:2596 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness |
OMIM:605809 |
| Sneddon Syndrome |
|
Cerebral hemorrhage, Facial palsy, Ischemic stroke, Hypertension |
OMIM:182410 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... |
ORPHA:57 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Skeletal muscle... |
OMIM:616867 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Muscular dystrophy |
OMIM:226670 |
| Muscular Dystrophy, Duchenne Type |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture, Calf... |
OMIM:310200 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Epidural he... |
ORPHA:465 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Macroglossia, Congenital muscular dystrophy, Pelvic girdle muscle weakness, Achilles tendon contr... |
OMIM:607155 |
| Typical Nemaline Myopathy |
|
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Facial diplegia, Short neck, Kyphos... |
ORPHA:171436 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Kyphosis, Generalized amyotrophy, Spinal rigidity, Spinal deformities, Myopathy, Ragged-red muscl... |
ORPHA:352447 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Purpura, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising suscept... |
ORPHA:3002 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Myopathy, Rhabdomyolysis, Skeletal muscle atrophy |
OMIM:615511 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Congenital Factor Vii Deficiency |
|
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... |
ORPHA:327 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Flexion contracture, Cervical C2/C3 vertebral fusion, Nemaline bodies, Thoracolumbar scoliosis, M... |
OMIM:616549 |
| Abeta Amyloidosis, Italian Type |
|
Cerebral hemorrhage, Stroke |
ORPHA:324713 |
| Immune-Mediated Necrotizing Myopathy |
|
EMG: myopathic abnormalities, Palpitations, Scapular winging, Proximal muscle weakness in lower l... |
ORPHA:206569 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Muscular dystrophy, Camptodactyly, Knee flexion contracture, Elevated circulating creatine kinase... |
OMIM:608799 |
| Fetal Akinesia Deformation Sequence 4 |
|
Arthrogryposis multiplex congenita, Camptodactyly, Flexion contracture, Kyphosis, Skeletal muscle... |
OMIM:618393 |
| Abeta Amyloidosis, Iowa Type |
|
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke |
ORPHA:324708 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
| Myopathy Due To Malate-Aspartate Shuttle Defect |
|
Myopathy |
OMIM:254960 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
| Nemaline Myopathy 3 |
|
Scoliosis, EMG: myopathic abnormalities, Hyperlordosis, Arthrogryposis multiplex congenita, Type ... |
OMIM:161800 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right bundle branch block, Stroke, Left bundle branch block, Atrioventricular block, Transient is... |
OMIM:115197 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Mildly elevated cr... |
ORPHA:329478 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Kyphosis |
OMIM:618453 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Kyphosis, Skeletal muscle atrophy |
ORPHA:101078 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Cerebral hemorrhage, Purpura |
OMIM:614514 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:615287 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Lower limb muscle weakness, Generalized amyotrophy, Facial pals... |
ORPHA:171881 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Distal amyotrophy, Generalized amyotrop... |
OMIM:617519 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
EMG: myopathic abnormalities, Generalized amyotrophy, Rimmed vacuoles, Elevated circulating creat... |
ORPHA:52430 |
| Glycogen Storage Disease, Type Ixd |
|
Elevated circulating creatine kinase concentration, Skeletal muscle atrophy |
OMIM:300559 |
| Gm1-Gangliosidosis, Type Iii |
|
Scoliosis, Platyspondyly, Kyphosis, Anterior beaking of lumbar vertebrae, Skeletal muscle atrophy |
OMIM:230650 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Flexion contracture, Kyphosis |
OMIM:618237 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Myopathy, Skeletal muscle hypertrophy, Macroglossia |
ORPHA:2349 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Kyphosc... |
ORPHA:496689 |
| Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
| Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... |
ORPHA:853 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Scoliosis, Congenital foot contractures, Kyphosis, Distal amyotrophy |
ORPHA:3454 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
| Sengers Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
OMIM:212350 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Increased intramyocellular lipid droplets |
OMIM:612016 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... |
ORPHA:35909 |
| Intermediate Nemaline Myopathy |
|
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... |
ORPHA:171433 |
| Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... |
OMIM:154275 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture |
OMIM:615249 |
| Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... |
OMIM:601419 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Scoliosis, Kyphosis, Short neck |
ORPHA:2744 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Scoliosis, EMG: myopathic abnormalities, Thoracic kyphoscoliosis, Hip flexor weakness, Weakness o... |
ORPHA:98913 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Decreased muscle mass, Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Facial pa... |
OMIM:608931 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scoliosis, Hyperlordosis, Scapular winging, Peroneal muscle atrophy, Amyoplasia, Kyphosis, Progre... |
OMIM:181405 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Cardiomyopathy |
ORPHA:26792 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... |
ORPHA:231160 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Scoliosis, Spinal muscular atrophy, Skeletal muscle atrophy, Myopathy, Weakness of facial muscula... |
ORPHA:254875 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy |
OMIM:618242 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Congenital contracture, Elevated c... |
OMIM:613150 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral hemorrhage |
OMIM:603285 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Skeletal muscle atr... |
OMIM:618291 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... |
OMIM:154276 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Scapular winging, Facial palsy, Myopathy, Ragged-red muscle fibers, Muscle ... |
ORPHA:254886 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Elevated circulating creatine k... |
ORPHA:565899 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Increased muscle lipid content, Rhabdomyolysis, Elevated circulating long chain fatty acid concen... |
ORPHA:228302 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Congenital muscular dystrophy, Skeletal muscle hypertrophy, Hypoglycosylation of al... |
ORPHA:370959 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mildly elevated creatine kinase, Muscle fiber necrosis, Elevated circulating creatine kinase conc... |
OMIM:607459 |
| Atrial Standstill |
|
Muscular dystrophy, Flexion contracture, Left ventricular noncompaction, Skeletal muscle atrophy |
ORPHA:1344 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... |
ORPHA:40 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita |
OMIM:254210 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Type 2 muscle fiber atrophy |
OMIM:601462 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Ischemic stroke, Intracranial hemorrhage, Hypertension, Stroke, Cerebral hemorrhage, Cerebral isc... |
ORPHA:136 |
| Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Osteomesopyknosis |
|
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
EMG: myopathic abnormalities, Palpitations, Decreased muscle mass, Arrhythmia, Right bundle branc... |
ORPHA:263297 |
| Fetal Gaucher Disease |
|
Arthrogryposis multiplex congenita, Stillbirth, Intracranial hemorrhage, Flexion contracture, Neo... |
ORPHA:85212 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
EMG: myopathic abnormalities, Pelvic girdle muscle weakness, Achilles tendon contracture, Distal ... |
ORPHA:254361 |
| Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Kyphosis, Back pain, Intervertebral space narrowing, Squared-off platyspondyly, Short ... |
OMIM:271530 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Muscular dystrophy, Hypermethioninemia, Abnormal... |
ORPHA:88618 |
| Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
| Myofibrillar Myopathy 10 |
|
EMG: myopathic abnormalities, Flexion contracture of finger, Kyphosis, Left ventricular hypertrop... |
OMIM:619040 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Hyperuricemia, Hypertriglyceridemia, Ca... |
ORPHA:79083 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, ST segment depression, Hypertension, Abnormal cerebral artery morphology, Myocar... |
ORPHA:90065 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:619026 |
| Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Epistaxis, Hypertension, Prolonged QT interval, Left ventricular hypertr... |
ORPHA:251274 |
| Glycogen Storage Disease Iii |
|
Myopathy, Distal amyotrophy, Cardiomyopathy |
OMIM:232400 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Hypertriglyceridemia, Abnormality of skeletal muscle fiber... |
ORPHA:2348 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Scoliosis, Arthrogryposis multiplex congenita, Short neck, Kyphosis, Neonatal death, Skeletal mus... |
OMIM:611890 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Scoliosis, Skeletal muscle hypertrophy, Kyphosis |
ORPHA:99014 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia |
OMIM:615524 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:616538 |
| Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
| Congenital unilateral pulmonary hypoplasia |
|
Congenital diaphragmatic hernia |
ORPHA:2258 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Absent muscle fiber merosin, Fle... |
ORPHA:258 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Cerebral hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:98880 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... |
OMIM:605714 |
| Adrenal Hypoplasia, Congenital |
|
Muscular dystrophy, Hyponatremia |
OMIM:300200 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
EMG: myopathic abnormalities, Rhabdomyolysis, Facial palsy, Skeletal muscle atrophy, Muscle fiber... |
OMIM:157640 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance |
OMIM:619028 |
| Methanol Poisoning |
|
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... |
ORPHA:31825 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Mildly elevated creatine ki... |
ORPHA:600 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... |
OMIM:252011 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
EMG: myopathic abnormalities, Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failu... |
ORPHA:99901 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Rhabdomyolysis, Highly elevated creatine kinase, Glycogen accu... |
ORPHA:368 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2141 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Myopathy, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:617713 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
EMG: myopathic abnormalities, Distal amyotrophy, Lower limb muscle weakness, Upper limb muscle we... |
ORPHA:99939 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Congenital diaphragmatic hernia |
OMIM:601163 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contracture, Hypertriglyceridemia, Eleva... |
OMIM:613327 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Diaphragmatic e... |
OMIM:616866 |
| Adrenomyodystrophy |
|
Myopathy |
OMIM:300270 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Subarachnoid hemorrhage, Cerebral vasculitis |
OMIM:243700 |
| Acquired Von Willebrand Syndrome |
|
Persistent bleeding after trauma, Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorr... |
ORPHA:99147 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Mildly elevated creatine kinase, Proximal amyotrophy |
OMIM:159400 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Skeletal muscle hypertrophy, Vertebral wedging, Firm muscles, Kyphoscoliosis |
OMIM:255710 |
| Walker-Warburg Syndrome |
|
Abnormal circulating creatine kinase concentration, Aplasia/Hypoplasia involving the skeletal mus... |
ORPHA:899 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Elevated circulating creatine kinase concentration, Myopathy, Rhabdomyolysis, Increased intramyoc... |
OMIM:255125 |
| Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Transient ischemic attack, Cerebral vasculitis, Stroke |
ORPHA:140989 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Proximal amyotrophy, Kyphosis, Generalized amyotrophy, Facial palsy, Spinal rigidity, Spinal defo... |
OMIM:615084 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
OMIM:300653 |
| Mcleod Syndrome |
|
Rhabdomyolysis, Atrial fibrillation, Dilated cardiomyopathy, Myopathy, Cardiomyopathy |
OMIM:300842 |
| Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
| Barth Syndrome |
|
Arrhythmia, Skeletal myopathy, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic car... |
OMIM:302060 |
| Osteogenesis Imperfecta, Type Xvii |
|
Decreased muscle mass, Intraventricular hemorrhage |
OMIM:616507 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Scoliosis, Limb-girdle muscular dystrophy |
ORPHA:369847 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased muscle glycogen content, EMG: myopathic abnormalities, Increased intramyocellular lipid... |
ORPHA:502423 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Kyphosis, Thoracolumbar scoliosis, Knee flexion contracture, Hip contracture |
OMIM:313420 |
| Stormorken Syndrome |
|
Abnormal bleeding, Myopathy, Stroke-like episode, Epistaxis |
OMIM:185070 |
| Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Hypertension |
ORPHA:84090 |
| Oculopharyngodistal Myopathy 1 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Distal amyotrophy, Facial palsy, Rimmed vacuol... |
OMIM:164310 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Moyamoya phenomenon, Ischemic stroke, Hypertension, Cerebral hemorrhage, Dilated cardiomyopathy |
ORPHA:280679 |
| Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Lower limb hypertonia, Lower limb muscle weakness, Upper limb muscle we... |
ORPHA:99013 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Interosseus muscle atrophy, Fiber type grouping, Thenar muscle atrophy, Distal lower limb amyotro... |
OMIM:500013 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Moyamoya phenomenon, Cerebral hemorrhage, Stroke-like episode, Abnormal cerebral vascular morphol... |
OMIM:300845 |
| Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, O... |
ORPHA:324636 |
| Metatropic Dysplasia |
|
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Kyphosi... |
OMIM:156530 |
| Extracranial Carotid Artery Aneurysm |
|
Arteritis, Subarachnoid hemorrhage, Hypertension, Stroke, Cerebral ischemia, Vasculitis, Upper li... |
ORPHA:494424 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia |
ORPHA:563609 |
| Carnitine Deficiency, Systemic Primary |
|
Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced muscle carnitine level |
OMIM:212140 |
| Familial Isolated Hypoparathyroidism |
|
Myopathy, Arrhythmia |
ORPHA:2238 |
| Amyotrophic Lateral Sclerosis 21 |
|
Shoulder girdle muscle weakness, Elevated circulating creatine kinase concentration, Rimmed vacuoles |
OMIM:606070 |
| Carey-Fineman-Ziter Syndrome |
|
Scoliosis, Flexion contracture, Pectoralis hypoplasia, Facial palsy, Skeletal muscle atrophy, Myo... |
OMIM:254940 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... |
OMIM:609813 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising sus... |
ORPHA:99828 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy |
ORPHA:1215 |
| Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Beaking of vertebral bodies, Skeletal muscle hypertrophy, Decreased anteri... |
ORPHA:3101 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hypotension, Congestive heart failure, Shortened PR interval, Myopathy, Bradycardia... |
OMIM:261740 |
| Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:380 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
| Acquired Purpura Fulminans |
|
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock, Prolonged prothrombin time |
ORPHA:49566 |
| Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers |
OMIM:614924 |
| Pseudoachondroplasia |
|
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Cer... |
ORPHA:750 |
| Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
| Acrocallosal Syndrome |
|
