| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Tubular Aggregate Myopathy |
|
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... |
ORPHA:2593 |
| Myopathy, Sarcoplasmic Body |
|
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... |
OMIM:620286 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
| Spinal Muscular Atrophy, Type Iv |
|
Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas... |
OMIM:271150 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... |
OMIM:615424 |
| Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... |
OMIM:616199 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Spinal muscular atrophy, Proxim... |
OMIM:158600 |
| Myopathy, Myofibrillar, 3 |
|
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... |
OMIM:609200 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability... |
OMIM:619733 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... |
OMIM:301075 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr... |
OMIM:617760 |
| Tibial Muscular Dystrophy |
|
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce... |
ORPHA:609 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:618992 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Centrally nucleate... |
OMIM:601846 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm... |
OMIM:608423 |
| Nonaka Myopathy |
|
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... |
OMIM:605820 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,... |
OMIM:620235 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
| Myopathy, Distal, Tateyama Type |
|
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... |
OMIM:614321 |
| Myopathy, Distal, 5 |
|
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... |
OMIM:617030 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:182970 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... |
ORPHA:611 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... |
OMIM:117000 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... |
OMIM:618655 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... |
OMIM:254110 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Scapular winging, Increased variability in muscle fiber diameter, Central... |
OMIM:618129 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... |
OMIM:617158 |
| Myopathy, Scapulohumeroperoneal |
|
Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ... |
OMIM:616852 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... |
OMIM:612999 |
| Myopathy, Centronuclear, 1 |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... |
OMIM:160150 |
| Myofibrillar Myopathy 11 |
|
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... |
OMIM:619178 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio... |
OMIM:609115 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne... |
OMIM:181400 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance |
OMIM:614807 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... |
OMIM:608358 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... |
OMIM:618848 |
| Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Centrally n... |
OMIM:620246 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o... |
OMIM:618823 |
| Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus... |
OMIM:616228 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel... |
OMIM:615422 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... |
OMIM:601954 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Ankle flexion contracture, Increased variability in muscle fiber diameter, Ce... |
OMIM:617072 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Distal Myopathy, Welander Type |
|
Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Intrinsic hand muscl... |
ORPHA:603 |
| Gne Myopathy |
|
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... |
ORPHA:602 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
| Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopathic abnormaliti... |
OMIM:600334 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Calf muscle hypertrophy, Type 2 m... |
OMIM:620375 |
| Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy |
OMIM:609524 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Limb-girdle muscle weakness, Centr... |
ORPHA:86812 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Scapular winging, Shoulder girdle muscle weakness, Weakness of facial mu... |
OMIM:619477 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... |
ORPHA:178464 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... |
ORPHA:34516 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Centrally nucleated skel... |
OMIM:611705 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet... |
OMIM:620138 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... |
OMIM:617066 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We... |
OMIM:618940 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... |
ORPHA:457050 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Weakness of the intrinsic hand muscles, Limb-girdle muscle weaknes... |
ORPHA:178400 |
| Nemaline Myopathy 6 |
|
Facial palsy, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy, Myopathy |
OMIM:609273 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy |
ORPHA:270 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Neutrophilia, ... |
OMIM:619281 |
| Congenital Myopathy 20 |
|
Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in muscle fiber ... |
OMIM:620310 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... |
ORPHA:206549 |
| Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Distal amyotrophy, Deposits immunoreactive to beta-amyloid protein, Lower lim... |
OMIM:254130 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... |
OMIM:616812 |
| Mitochondrial Myopathy With Diabetes |
|
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of orbicularis ocu... |
OMIM:500002 |
| Congenital Myopathy 3 With Rigid Spine |
|
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Increased vari... |
OMIM:602771 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Ragged-red muscle fibers, Facial palsy, Proximal muscle weakness in lower limbs |
OMIM:616209 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas... |
ORPHA:266 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Lower ... |
OMIM:620452 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... |
OMIM:620068 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Flexi... |
OMIM:618484 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... |
OMIM:253601 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... |
OMIM:255320 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie... |
OMIM:608099 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle m... |
OMIM:255160 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Lower limb mu... |
OMIM:616052 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... |
OMIM:620402 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,... |
OMIM:608807 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle... |
OMIM:619042 |
| X-Linked Centronuclear Myopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... |
ORPHA:596 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Ragged-red muscle fibers, Scapular winging, Skeletal muscle atrophy, Weakness of facial musculature |
OMIM:617069 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities |
OMIM:609283 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
ORPHA:401768 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... |
ORPHA:276435 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Ragged-red muscle fibers, Facial palsy, Limb muscle weakness |
OMIM:164300 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fiber diamete... |
ORPHA:486815 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia |
ORPHA:2688 |
| Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ... |
OMIM:613204 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia |
OMIM:616871 |
| Myopathy, Centronuclear, 2 |
|
Facial palsy, Scapular winging, EMG: myopathic abnormalities, Generalized amyotrophy, Centrally n... |
OMIM:255200 |
| Zebra Body Myopathy |
|
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma... |
ORPHA:97240 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs |
ORPHA:1878 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v... |
ORPHA:399058 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... |
OMIM:255310 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Type 1 muscle fiber predominance, Shoulder flexion contracture, Nemaline bodies, Hip contracture,... |
OMIM:605355 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased variability in... |
OMIM:620386 |
| Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Joint contracture of the 5th finger, Scapular winging, Nem... |
OMIM:617258 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Amyotrophy of ankle musculature, Rimmed vacuoles, EMG: myopathic abnormalities, Weakness of the i... |
ORPHA:399086 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... |
OMIM:619518 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... |
ORPHA:488650 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... |
OMIM:253700 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type ... |
OMIM:619903 |
| Congenital Myopathy 23 |
|
Facial diplegia, Scapular winging, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy... |
OMIM:609285 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type grouping, Angulat... |
OMIM:608340 |
| Myopathy, Distal, 3 |
|
Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Joint contr... |
OMIM:610099 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature |
OMIM:615959 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... |
OMIM:616924 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ham... |
OMIM:300696 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph... |
ORPHA:352479 |
| Amyotrophic Lateral Sclerosis 21 |
|
Distal lower limb muscle weakness, Rimmed vacuoles, Hand muscle weakness, Increased variability i... |
OMIM:606070 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... |
OMIM:616313 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Recurrent infe... |
ORPHA:486 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in... |
OMIM:618654 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Multiple joint contractures, EMG: myopathic abnormalities, Abnormal muscle fib... |
ORPHA:98911 |
| Myopathy, Distal, 1 |
|
Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis anterior muscle atrophy, Am... |
OMIM:160500 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Flexi... |
OMIM:310440 |
| Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs |
ORPHA:309169 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Facial palsy, Scapular winging, Generalized amyotrophy, Centrally nucleated skel... |
ORPHA:169186 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Myofibrillar ... |
OMIM:603689 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... |
OMIM:614302 |
| Glycogen Storage Disease Ixd |
|
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... |
OMIM:300559 |
| Myopathy, Tubular Aggregate, 1 |
|
Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con... |
OMIM:160565 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Weakness of facial musculature,... |
OMIM:619542 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Facial palsy, Flexion contracture, P... |
OMIM:603511 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Abnormality of the foot muscula... |
ORPHA:169189 |
| Hirschsprung Disease, Susceptibility To, 3 |
|
Long-segment aganglionic megacolon, Aganglionic megacolon, Total colonic aganglionosis |
OMIM:613711 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... |
OMIM:619566 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed vacuoles, ... |
OMIM:612937 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo... |
OMIM:123320 |
| Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy |
OMIM:609452 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy |
OMIM:611615 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Marinesco-Sjogren Syndrome |
|
Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle... |
OMIM:248800 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... |
OMIM:300718 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Increased variability i... |
OMIM:613157 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Limb muscle weak... |
OMIM:619473 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, EMG: myopathic abnormalities, Hip contracture, Proximal amyotrophy,... |
ORPHA:98902 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Muscle Filaminopathy |
|
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Scapul... |
ORPHA:171445 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
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Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Limb muscle weakness, General... |
OMIM:167320 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in... |
OMIM:605637 |
| Dpm3-Cdg |
|
Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Pelvic girdle muscle weakness |
ORPHA:263494 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy |
OMIM:610542 |
| Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Leg muscle stiffness, L... |
OMIM:608810 |
| Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Increased variability in musc... |
OMIM:619790 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Rhabdomyolysis, Skeletal muscle atrophy |
OMIM:617070 |
| Multiminicore Myopathy |
|
Muscular dystrophy, Proximal muscle weakness in upper limbs, Minicore myopathy, Abnormal muscle f... |
ORPHA:598 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture |
OMIM:615368 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Foot... |
OMIM:619574 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
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Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... |
OMIM:620542 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... |
OMIM:618138 |
| Congenital Myopathy 22A, Classic |
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Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contractures, Limb muscle w... |
OMIM:620351 |
| Congenital Myopathy 14 |
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Knee flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diamet... |
OMIM:618414 |
| Mitochondrial Myopathy, Infantile, Transient |
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Increased muscle glycogen content, Ragged-red muscle fibers, Facial palsy, Hypertrophied muscle f... |
OMIM:500009 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Nemaline ... |
OMIM:620265 |
| Immunodeficiency 21 |
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Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
| Nemaline Myopathy 2 |
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Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, EMG: myopathic abnormalit... |
OMIM:256030 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
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Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... |
ORPHA:2198 |
| X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
| Ullrich Congenital Muscular Dystrophy |
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Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Increased variability in mu... |
ORPHA:75840 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis |
OMIM:619644 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn... |
ORPHA:353 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... |
OMIM:616470 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Central Core Disease |
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Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core regions in muscle f... |
ORPHA:597 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
| 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 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
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Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Hematochezia, Splenomegaly, Celiac disea... |
OMIM:620565 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... |
OMIM:619802 |
| Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
| Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
| Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... |
ORPHA:98905 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
| Lethal Congenital Contracture Syndrome 9 |
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Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m... |
OMIM:616503 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Ragged-red muscle fibers, Scapular winging, Facial palsy, Muscle fiber tubular inclusions, Genera... |
ORPHA:353327 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Intrinsic hand muscle atrophy, Fiber type grouping, Generalized amyotrophy, Ang... |
OMIM:620285 |
| Congenital Myopathy 10B, Mild Variant |
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Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle... |
OMIM:620249 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increased variability in muscl... |
OMIM:607459 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
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Aganglionic megacolon, Intestinal pseudo-obstruction, Intestinal malrotation, Colonic diverticula... |
OMIM:243180 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Ragged-red muscle fibers, Increased muscle lipid content, Myop... |
ORPHA:254864 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Elbow flexion c... |
ORPHA:1145 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
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Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe... |
OMIM:226670 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
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Abnormality of the musculature of the lower limbs, Necrotizing myopathy, Rimmed vacuoles, Facial ... |
ORPHA:329478 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Enterocolitis, Aganglionic megacolon, Abnormal enteric ganglion morphology |
OMIM:142623 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... |
OMIM:619350 |
| Lipodystrophy, Congenital Generalized, Type 4 |
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Muscular dystrophy, Skeletal muscle hypertrophy, Increased variability in muscle fiber diameter, ... |
OMIM:613327 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb muscle weakness, Hamstring contrac... |
OMIM:613205 |
| Bethlem Muscular Dystrophy |
|
Muscular dystrophy, Ankle flexion contracture, Reduced muscle collagen VI, Elbow flexion contract... |
ORPHA:610 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyo... |
ORPHA:57 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... |
ORPHA:119 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Anemia, Erythroid hypoplasia, High palate, Hypoplasia of the thymus, Cleft pala... |
OMIM:612541 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... |
OMIM:181405 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature |
OMIM:618416 |
| Cap Myopathy |
|
Lower limb amyotrophy, Facial palsy, Increased variability in muscle fiber diameter, Generalized ... |
ORPHA:171881 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
| Nk-Cell Enteropathy |
|
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... |
ORPHA:263665 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... |
OMIM:226990 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon |
OMIM:235750 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Increased endomysial connective tissue, Muscular dystrophy, Facial palsy, Myopathy |
OMIM:602541 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Volvulus, Thrombocytopenia, Intestinal bleeding, Patholo... |
OMIM:112200 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:98855 |
| Immune-Mediated Necrotizing Myopathy |
|
Myositis, Scapular winging, EMG: myopathic abnormalities, Muscle fiber necrosis, Skeletal muscle ... |
ORPHA:206569 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Generalized amyotrophy, Muscle fiber atrophy, Right ventricular hypertrophy, ... |
ORPHA:324604 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... |
OMIM:254090 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... |
OMIM:618986 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon |
OMIM:235740 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:98863 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:98853 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:261 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Ragged-red muscle fibers, EMG: myopathic abnormalities, Achilles tendon contracture, Skeletal mus... |
OMIM:615418 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Ge... |
OMIM:616866 |
| Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Polycythemia, Aganglionic megacolon |
OMIM:600501 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Distal upper limb amyotrophy, Rimmed vacuoles, Abnormality of the extraocular muscles, Abnormal m... |
ORPHA:600 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at... |
OMIM:620278 |
| Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:613013 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy |
ORPHA:3068 |
| Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand |
OMIM:175700 |
| Visceral Myopathy 1 |
|
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Intestinal pseudo-obstruc... |
OMIM:155310 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Microcolon |
OMIM:619431 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Anemia, Aganglionic megacolon, Lymphopenia |
ORPHA:935 |
| Fg Syndrome Type 1 |
|
Gastroesophageal reflux, Limited elbow extension and supination, High palate, Anal atresia, Abnor... |
ORPHA:93932 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Rectal prolapse, Acute colitis, Intestinal perforation, Leukocytosis, Reticulocytosis, Colonic st... |
ORPHA:90038 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Intestinal malrotation, Hypoperistalsis, Abnormality of the gastrointestinal tract, Microcolon |
ORPHA:2241 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Osteolytic defects of the phalanges of the hand, Gastr... |
ORPHA:90291 |
| Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon |
OMIM:609313 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Microcolon, Splenomegaly, Arthrogryposis multiplex congenita, Ileus |
ORPHA:163746 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon |
OMIM:619362 |
| Polymyositis |
|
Abnormal muscle fiber morphology |
ORPHA:732 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Narrow palate, Intestinal polyposis, Hamartomatous polyposis, Abnormal large intestine morphology... |
ORPHA:109 |
| Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Rhabdomyolysis, Increased intramyocellular lipid droplets, Lowe... |
ORPHA:79102 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Microcolon |
OMIM:619351 |
| Restrictive Dermopathy |
|
Osteopenia, Decreased skull ossification, Arthrogryposis multiplex congenita, Microcolon, Camptod... |
ORPHA:1662 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intestinal malrotation, Colon perforation, Microcolon |
OMIM:600001 |
