| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
| 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 |
| 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 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
| Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
| Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
| Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| Myopathy, 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, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
| Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
| Neuropathy, Painful |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:256870 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... |
OMIM:615422 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... |
OMIM:619477 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:611705 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
| Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
| Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... |
ORPHA:178400 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... |
OMIM:617072 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Colitis, Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Inflammation of the large in... |
OMIM:619281 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... |
ORPHA:437572 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... |
ORPHA:280333 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
| Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... |
OMIM:602771 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... |
OMIM:618484 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... |
OMIM:616052 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... |
ORPHA:266 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy |
OMIM:618129 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... |
OMIM:255160 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... |
ORPHA:596 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Helicobacter pylori infection, Neutropenia, Monocytopenia |
ORPHA:2688 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
| Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
| Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia |
OMIM:616871 |
| Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... |
OMIM:605355 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
| Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
| Myopathy, Centronuclear, 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... |
OMIM:255200 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
| Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy |
ORPHA:178145 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... |
ORPHA:98911 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated ... |
OMIM:255310 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... |
OMIM:609285 |
| Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Limb muscle weakness, Gen... |
OMIM:617258 |
| Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... |
OMIM:606070 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... |
ORPHA:169186 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... |
OMIM:603511 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:612937 |
| Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... |
OMIM:160500 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
| Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... |
ORPHA:598 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609452 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... |
ORPHA:352479 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... |
OMIM:300718 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle... |
OMIM:248800 |
| Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... |
ORPHA:98902 |
| King-Denborough Syndrome |
|
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... |
OMIM:619542 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... |
OMIM:167320 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... |
OMIM:613818 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture |
OMIM:615368 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles |
ORPHA:263494 |
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... |
OMIM:610069 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
| Nemaline Myopathy 2 |
|
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... |
OMIM:256030 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
| Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Recurrent infection of the gastrointestinal tract, Eosinophilia, Monocytosis, Aplast... |
ORPHA:486 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Abnormal platelet morpho... |
ORPHA:2978 |
| Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
| Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
| Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
| Hirschsprung Disease, Susceptibility To, 3 |
|
Aganglionic megacolon |
OMIM:613711 |
| Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
| Colonic Atresia |
|
Colonic atresia |
OMIM:303650 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakn... |
OMIM:619574 |
| Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy |
OMIM:605637 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:171442 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Abnormal esophagus physiology, Dysphagia, Gastroint... |
ORPHA:2198 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... |
OMIM:618138 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... |
OMIM:616470 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
OMIM:500009 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia |
OMIM:619644 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... |
ORPHA:597 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... |
ORPHA:424107 |
| Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis |
OMIM:610680 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Spinal muscula... |
ORPHA:1145 |
| Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Colitis, Hemophagocytosis, Spl... |
OMIM:619802 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexor weakness, Fiber typ... |
OMIM:620011 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... |
OMIM:607459 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
ORPHA:254864 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormality of enteric ganglion morphology, Aganglionic megacolon, Enterocolitis |
OMIM:142623 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... |
OMIM:613954 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... |
OMIM:614399 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... |
OMIM:310300 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Ge... |
OMIM:609560 |
| Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Anal atresia, Aganglionic megacolon |
OMIM:235760 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Progressive distal mu... |
OMIM:181405 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
| Bethlem Myopathy |
|
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... |
ORPHA:610 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... |
ORPHA:57 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... |
OMIM:226670 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... |
OMIM:613327 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Fo... |
ORPHA:329478 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Lymphopenia, Cleft palate, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepa... |
OMIM:612541 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon |
OMIM:235750 |
| Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... |
ORPHA:263665 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy |
ORPHA:369840 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Intestinal malrotation, Colonic diverticula, Intestinal pseudo-obstruction, Functional intestinal... |
OMIM:243180 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... |
ORPHA:171881 |
| X-Linked Complicated Corpus Callosum Dysgenesis |
|
Aganglionic megacolon |
ORPHA:1497 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Fl... |
ORPHA:178148 |
| Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98855 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon |
OMIM:235740 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
| Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myo... |
ORPHA:206569 |
| 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 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2150 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2155 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98863 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Ragged-red muscle fibers, Facial pa... |
ORPHA:254886 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98853 |
| Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:261 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita |
OMIM:619334 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
| Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Lower limb hypertonia |
OMIM:610246 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy |
OMIM:540000 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Skeletal mu... |
OMIM:615418 |
| Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb muscle weakness, Lower limb hype... |
ORPHA:99013 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Generalized amyotrophy, Myopathy, Ragged-red muscle fibers |
ORPHA:352447 |
| Abcd Syndrome |
|
Polycythemia, Total intestinal aganglionosis, Aganglionic megacolon |
OMIM:600501 |
| 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 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... |
ORPHA:600 |
| Secondary Short Bowel Syndrome |
|
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Vill... |
ORPHA:95427 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... |
OMIM:616866 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... |
ORPHA:52430 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... |
OMIM:157640 |
| Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand |
OMIM:175700 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers |
OMIM:614924 |
| Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:613013 |
| Radiation Proctitis |
|
Rectal fistula, Abnormal gastrointestinal vascular morphology, Abnormal rectum morphology, Hemato... |
ORPHA:70475 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content |
ORPHA:228302 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy |
ORPHA:3068 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Muscle fiber splitting, Proximal amyotrophy |
OMIM:606408 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Microcolon |
OMIM:619431 |
| Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers |
ORPHA:1349 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Ragged-red muscle fibers, Abnormality of the extraocular muscles, Decreased muscle mass, Foot dor... |
ORPHA:298 |
| Visceral Myopathy 1 |
|
Dysphagia, Megaduodenum, Intestinal pseudo-obstruction, Microcolon, Aganglionic megacolon |
OMIM:155310 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joint contracture, Retrocollis, Di... |
ORPHA:300605 |
| Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Intestinal malrotation, Microcolon, Abnormality of the gastrointestinal tract, Hypoperistalsis |
ORPHA:2241 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Leukocytosis, Intussusception, Schistocytosis, Colonic stenosis, Rectal prolapse, ... |
ORPHA:90038 |
| Congenital Alveolar Capillary Dysplasia |
|
Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Volvulus, Duodenal stenosis, Aga... |
ORPHA:210122 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Myopathy, Abnormality of skeletal mus... |
ORPHA:79083 |
| Snakebite Envenomation |
|
Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Jejunal atresia, Microcolon, Volvulus |
OMIM:609313 |
| Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, ... |
ORPHA:98908 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Malabsorption, Anemia, Lymphopenia, Aganglionic megacolon |
ORPHA:935 |
| Neuromuscular Oculoauditory Syndrome |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Calf muscle hypertrophy, Wrist flexion contr... |
OMIM:618733 |
| Oculopharyngodistal Myopathy 1 |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fo... |
OMIM:164310 |
| Native American Myopathy |
|
Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Arthrogryposis mu... |
ORPHA:168572 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Polymyositis |
|
Abnormal muscle fiber morphology |
ORPHA:732 |
| Scleroderma |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... |
ORPHA:801 |
| Congenital Myasthenic Syndrome |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Frontalis muscle... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Frontalis muscle... |
ORPHA:98914 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon |
OMIM:619362 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscle fiber atrophy, Macroglossia, Flexion contracture, Absent muscle fiber merosin, Muscular dy... |
ORPHA:258 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:607426 |
| Overlap Myositis |
|
Distal lower limb muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness ... |
ORPHA:206572 |
| Fg Syndrome Type 1 |
|
High palate, Anal atresia, Malrotation of colon, Gastroesophageal reflux, Pyloric stenosis, Abnor... |
ORPHA:93932 |
| Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... |
ORPHA:90291 |
| Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy |
OMIM:611881 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Ileus, Microcolon, Aganglionic megacolon, Splenomegaly |
ORPHA:163746 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormality of the shoulder girdle musculature, Abnormality of the calf musculature, Rimmed vacuo... |
ORPHA:565612 |
| Thyrotoxic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Rhabdomyolysis, Abnormal muscle fiber morphology, Lowe... |
ORPHA:79102 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, EMG: myopathic abnormalities, Quadriceps muscle weakness, Left ventricular hyper... |
ORPHA:254892 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Rhabdomyolysis, Ragged-red muscle fibers |
OMIM:124000 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Ileal atresia |
OMIM:619351 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Hamartomatous polyposis, Abnormal large intestine morphology, Narrow palate |
ORPHA:109 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Increased variability in muscle fiber diameter, Increased intramyocellular l... |
ORPHA:17 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ragged-red muscle fibers, Distal amyotrophy |
OMIM:603041 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intestinal malrotation, Microcolon, Colon perforation |
OMIM:600001 |
| Restrictive Dermopathy |
|
Microcolon, Submucous cleft hard palate |
ORPHA:1662 |
