| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... |
ORPHA:2593 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Spinal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy |
OMIM:271220 |
| Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content |
OMIM:612932 |
| Myopathy, Distal, 5 |
|
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting |
OMIM:617030 |
| 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 8 |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... |
OMIM:254110 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... |
OMIM:608358 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... |
OMIM:608423 |
| Tibial Muscular Dystrophy |
|
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... |
ORPHA:609 |
| Vacuolar Neuromyopathy |
|
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... |
OMIM:601846 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... |
OMIM:605820 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter |
OMIM:618992 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... |
OMIM:613530 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... |
OMIM:617158 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:182970 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... |
ORPHA:611 |
| Central Core Disease Of Muscle |
|
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... |
OMIM:117000 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Myopathy, Centronuclear, 1 |
|
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... |
OMIM:160150 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... |
OMIM:618655 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... |
OMIM:609115 |
| Myopathy, Scapulohumeroperoneal |
|
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... |
OMIM:616852 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... |
OMIM:615422 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... |
OMIM:618848 |
| Myofibrillar Myopathy 11 |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... |
OMIM:619178 |
| 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 |
| Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
| 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 Recessive 7 |
|
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... |
OMIM:601954 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... |
OMIM:615424 |
| Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
| Neuropathy, Painful |
|
Lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:256870 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
| Distal Myopathy, Welander Type |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... |
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 |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... |
ORPHA:602 |
| Nemaline Myopathy 6 |
|
Myopathy, Nemaline bodies, Limb muscle weakness |
OMIM:609273 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Centrally nucleated skeletal musc... |
OMIM:255160 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... |
ORPHA:34516 |
| Salih Myopathy |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... |
OMIM:611705 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... |
OMIM:500002 |
| Oculopharyngodistal Myopathy 2 |
|
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... |
OMIM:618940 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... |
OMIM:202700 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... |
ORPHA:86812 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... |
OMIM:609200 |
| Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... |
ORPHA:178400 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy |
ORPHA:270 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... |
OMIM:617072 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... |
ORPHA:457050 |
| Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
| Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... |
OMIM:254130 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... |
ORPHA:206549 |
| Hereditary Myopathy With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... |
ORPHA:178464 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Colitis, B lympho... |
OMIM:619281 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles |
OMIM:615426 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... |
OMIM:253601 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congenita, Flexion contractu... |
OMIM:618484 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... |
ORPHA:437572 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Limb-girdle muscular dystrophy, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystrog... |
ORPHA:280333 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy |
OMIM:208100 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... |
OMIM:255320 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased intramyocellular lipid droplets, Weakness of facial musculature |
OMIM:619062 |
| 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 Dominant 1 |
|
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... |
OMIM:603511 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... |
OMIM:613204 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy |
OMIM:618129 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:300717 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Limb-gir... |
OMIM:616812 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Myopathy, Centronuclear, 2 |
|
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... |
OMIM:255200 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in upper li... |
ORPHA:276435 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... |
OMIM:614470 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Increased vari... |
ORPHA:401768 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... |
OMIM:619042 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Helicobacter pylori infection, Lymphopenia, Neutropenia |
ORPHA:2688 |
| Zebra Body Myopathy |
|
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... |
ORPHA:97240 |
| Nemaline Myopathy 5 |
|
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... |
OMIM:605355 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... |
OMIM:608810 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... |
ORPHA:399086 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
| Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
| Masticatory Muscles, Hypertrophy Of |
|
Skeletal muscle hypertrophy |
OMIM:154850 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Multiple joint contract... |
ORPHA:486815 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... |
ORPHA:399058 |
| Myopathy, Distal, 3 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... |
OMIM:610099 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia |
OMIM:616871 |
| Myopathy, Distal, 1 |
|
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... |
OMIM:160500 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
| Distal Nebulin Myopathy |
|
EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, Nemaline bodies, Sternoclei... |
ORPHA:399103 |
| Distal Myopathy, Tateyama Type |
|
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... |
ORPHA:488650 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Scapular winging, Rimmed vacuoles, Flexion contracture |
OMIM:300696 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... |
OMIM:613818 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... |
OMIM:616924 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... |
ORPHA:98911 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... |
OMIM:255310 |
| Autosomal Recessive Centronuclear Myopathy |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, G... |
ORPHA:169186 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... |
OMIM:609456 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy |
ORPHA:178145 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... |
OMIM:617258 |
| Nemaline Myopathy 4 |
|
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... |
OMIM:609285 |
| Glycogen Storage Disease Ixb |
|
Increased muscle glycogen content |
OMIM:261750 |
| 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 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Abnormality o... |
ORPHA:34515 |
| Creatine Phosphokinase, Elevated Serum |
|
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... |
OMIM:603689 |
| Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... |
ORPHA:598 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609452 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... |
OMIM:248800 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... |
OMIM:612937 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... |
ORPHA:352479 |
| Amish Nemaline Myopathy |
|
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... |
ORPHA:98902 |
| Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left ventricular hypertrophy |
OMIM:611556 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness |
ORPHA:263494 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... |
OMIM:500009 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Juvenile colonic polyposis, Colon ... |
OMIM:610069 |
| Autosomal Dominant Centronuclear Myopathy |
|
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pre... |
ORPHA:169189 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture |
OMIM:615368 |
| Adult-Onset Nemaline Myopathy |
|
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... |
ORPHA:171442 |
| Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... |
OMIM:160565 |
| Myasthenic Syndrome, Congenital, 14 |
|
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture |
OMIM:616228 |
| Nemaline Myopathy 2 |
|
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... |
OMIM:256030 |
| 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 |
| Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
| Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
| Hirschsprung Disease, Susceptibility To, 3 |
|
Aganglionic megacolon |
OMIM:613711 |
| Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation, Abnormal platelet morpho... |
ORPHA:2978 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... |
ORPHA:486 |
| Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture |
OMIM:605637 |
| Colonic Atresia |
|
Colonic atresia |
OMIM:303650 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... |
OMIM:253700 |
| 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, Proximal mu... |
OMIM:618138 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... |
ORPHA:353 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal la... |
ORPHA:2198 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... |
OMIM:616470 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... |
ORPHA:75840 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Myopathy, Ragged... |
ORPHA:254864 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Multiple joint ... |
ORPHA:424107 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Laing Early-Onset Distal Myopathy |
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EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... |
ORPHA:59135 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Cleft pala... |
OMIM:612541 |
| Central Core Disease |
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Central core regions in muscle fibers, Pelvic girdle muscle weakness, Type 1 muscle fiber predomi... |
ORPHA:597 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
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Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... |
OMIM:310300 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
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Monocytosis |
OMIM:610680 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
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EMG: myopathic abnormalities, Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, ... |
OMIM:609560 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, In... |
ORPHA:1145 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
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Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Childhood-Onset Nemaline Myopathy |
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EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... |
ORPHA:171439 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
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Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... |
ORPHA:98905 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
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Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... |
ORPHA:353327 |
| Hirschsprung Disease, Susceptibility To, 1 |
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Enterocolitis, Aganglionic megacolon, Abnormality of enteric ganglion morphology |
OMIM:142623 |
| Nk-Cell Enteropathy |
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Gastric ulcer, Increased T cell count, Hematochezia, Gastroesophageal reflux, Abnormality of the ... |
ORPHA:263665 |
| Combined Oxidative Phosphorylation Deficiency 49 |
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Ragged-red muscle fibers |
OMIM:619024 |
| Myopathy, Myofibrillar, 7 |
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Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... |
OMIM:617114 |
| Bethlem Myopathy |
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Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... |
ORPHA:610 |
| Visceral Myopathy 2 |
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Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... |
OMIM:619350 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
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Anal atresia, Aganglionic megacolon |
OMIM:235760 |
| Combined Oxidative Phosphorylation Deficiency 28 |
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Ragged-red muscle fibers |
OMIM:616794 |
| Scapuloperoneal Spinal Muscular Atrophy |
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Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... |
OMIM:181405 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
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EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... |
ORPHA:57 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
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Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... |
ORPHA:119 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
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EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Weakness of the in... |
ORPHA:329478 |
| Hypokalemic Periodic Paralysis |
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Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
| Neutral Lipid Storage Disease With Myopathy |
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Myopathy, Increased muscle lipid content |
OMIM:610717 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
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Myopathy, Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy |
ORPHA:369840 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
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Aganglionic megacolon |
OMIM:235750 |
| Microcolon |
|
Microcolon |
OMIM:251400 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
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Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Flexion contracture, ... |
ORPHA:178148 |
| Cap Myopathy |
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Abnormal muscle fiber morphology, Lower limb muscle weakness, Generalized amyotrophy, Facial pals... |
ORPHA:171881 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... |
ORPHA:98855 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
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Aganglionic megacolon |
OMIM:235740 |
| Immune-Mediated Necrotizing Myopathy |
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EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower limbs, Skeletal... |
ORPHA:206569 |
| Meconium Ileus |
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Meconium ileus, Microcolon |
OMIM:614665 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
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Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... |
OMIM:252011 |
| Classic Multiminicore Myopathy |
|
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... |
ORPHA:324604 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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EMG: myopathic abnormalities, Lower limb muscle weakness, Myopathy, Fatty replacement of skeletal... |
ORPHA:397744 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Type 1 muscle fib... |
OMIM:254090 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... |
ORPHA:98863 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... |
ORPHA:98853 |
| Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... |
ORPHA:261 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Scapular winging, Facial palsy, Myopathy, Ragged-red muscle fibers, Muscle ... |
ORPHA:254886 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... |
OMIM:618986 |
| Arthrogryposis Multiplex Congenita 6 |
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Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter |
OMIM:619334 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
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Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy |
OMIM:540000 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
EMG: myopathic abnormalities, Generalized amyotrophy, Facial palsy, Muscle fiber necrosis, Ragged... |
OMIM:258450 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facial musculature |
ORPHA:352447 |
| Spastic Paraplegia Type 7 |
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Ragged-red muscle fibers, Lower limb hypertonia, Lower limb muscle weakness, Upper limb muscle we... |
ORPHA:99013 |
| Vocal Cord And Pharyngeal Distal Myopathy |
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Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Shoulder girdle muscle weak... |
ORPHA:600 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
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Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content |
ORPHA:228302 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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EMG: myopathic abnormalities, Generalized amyotrophy, Rimmed vacuoles, Fatty replacement of skele... |
ORPHA:52430 |
| Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe |
OMIM:175700 |
| Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Villous atrophy, Aganglionic megacolon, Steatorrhea, Volvulus, Abno... |
ORPHA:95427 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
EMG: myopathic abnormalities, Rhabdomyolysis, Facial palsy, Skeletal muscle atrophy, Muscle fiber... |
OMIM:157640 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers |
OMIM:614924 |
| Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:613013 |
| Radiation Proctitis |
|
Rectal fistula, Hematochezia, Abnormal rectum morphology, Abnormality of gastrointestinal vascula... |
ORPHA:70475 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy |
ORPHA:3068 |
| Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Diaphragmatic e... |
OMIM:616866 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Muscle fiber splitting, Proximal amyotrophy |
OMIM:606408 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers |
ORPHA:1349 |
| Amyotrophic Lateral Sclerosis 21 |
|
Shoulder girdle muscle weakness, Rimmed vacuoles |
OMIM:606070 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormal... |
ORPHA:79083 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Ragged-red muscle fibers, Abnormality of the extraocular muscles, Foot dor... |
ORPHA:298 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter |
OMIM:607459 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Contractures of the joints of the lower limbs, Distal amyotrophy, Skeletal muscle atrophy, Contra... |
ORPHA:300605 |
| Oculopharyngodistal Myopathy 1 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Distal amyotrophy, Facial palsy, Rimmed vacuol... |
OMIM:164310 |
| Visceral Myopathy 1 |
|
Megaduodenum, Dysphagia, Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon |
OMIM:155310 |
| Neutral Lipid Storage Myopathy |
|
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... |
ORPHA:98908 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Myopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:367 |
| Snakebite Envenomation |
|
Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Microangiopathic hemolytic anemia, Intestinal perforation, Intussusception, Reticu... |
ORPHA:90038 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ragged-red muscle fibers, Distal amyotrophy |
OMIM:603041 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hypoperistalsis, Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotation |
ORPHA:2241 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers |
OMIM:607426 |
| Neuromuscular Oculoauditory Syndrome |
|
EMG: myopathic abnormalities, Wrist flexion contracture, Muscle fiber necrosis, Knee flexion cont... |
OMIM:618733 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
| Native American Myopathy |
|
Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Abnormality of skeleta... |
ORPHA:168572 |
| Scleroderma |
|
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Abno... |
ORPHA:801 |
| Polymyositis |
|
Abnormal muscle fiber morphology |
ORPHA:732 |
| Congenital Myasthenic Syndrome |
|
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Distal lower limb muscle weakne... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Distal lower limb muscle weakne... |
ORPHA:98914 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormality of the shoulder girdle musculature, Increased muscle lipid content, Skeletal myopathy... |
ORPHA:565612 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Absent muscle fiber merosin, Fle... |
ORPHA:258 |
| Fg Syndrome Type 1 |
|
Gastroesophageal reflux, Malrotation of colon, Anal atresia, Abnormal large intestine morphology,... |
ORPHA:93932 |
| Systemic Sclerosis |
|
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Dysp... |
ORPHA:90291 |
| Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower limb muscle we... |
ORPHA:79102 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Microcolon, Ileus, Splenomegaly |
ORPHA:163746 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:124000 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
EMG: myopathic abnormalities, Hypomimic face, Ragged-red muscle fibers, Quadriceps muscle weaknes... |
ORPHA:254892 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased intramyocellular lipid droplets, Flexion contracture, Rhabdomyolysis, Skeletal muscle a... |
ORPHA:17 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Ileal atresia |
OMIM:619351 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Abnormal large intestine morphology, Hamartomatous polyposis, Narrow palate, Intestinal polyposis |
ORPHA:109 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Microcolon, Intestinal malrotation, Colon perforation |
OMIM:600001 |
| Restrictive Dermopathy |
|
Microcolon, Submucous cleft hard palate |
ORPHA:1662 |
| Singleton-Merten Syndrome 1 |
|
Tendon rupture, Muscle fiber atrophy |
OMIM:182250 |
