| Exercise Intolerance, Riboflavin-Responsive |
|
Exercise intolerance, Ragged-red muscle fibers |
OMIM:616839 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Abnormal lower motor neuron morphology, Distal muscle weakness, Hand muscle ... |
OMIM:607641 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... |
OMIM:616199 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:620286 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... |
ORPHA:2593 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... |
OMIM:254110 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... |
OMIM:615424 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... |
OMIM:601846 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness |
OMIM:616231 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... |
OMIM:608358 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... |
OMIM:608423 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra... |
OMIM:619733 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... |
OMIM:620235 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... |
OMIM:613530 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... |
OMIM:117000 |
| Nonaka Myopathy |
|
Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle... |
OMIM:605820 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617760 |
| Nemaline Myopathy 6 |
|
Exercise intolerance, Skeletal muscle atrophy, Myopathy, Limb muscle weakness, Nemaline bodies |
OMIM:609273 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... |
OMIM:618655 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... |
OMIM:618129 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, T... |
OMIM:181400 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles |
OMIM:604454 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... |
OMIM:619178 |
| Myopathy, Distal, Tateyama Type |
|
Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... |
OMIM:614321 |
| Myopathy, Centronuclear, 4 |
|
Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
| Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Distal amyotrophy, Myalgia, Muscle fiber cytoplasmatic inclusion bod... |
OMIM:609200 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Neck flexor weakness, Short stature, Facial palsy, Ragged-red muscle fibers, Proximal muscle weak... |
OMIM:616209 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Distal muscle weakness, Spinal muscular atrophy, Proximal... |
OMIM:611067 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... |
OMIM:620246 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration p... |
OMIM:619477 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers... |
OMIM:616228 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... |
ORPHA:178400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... |
OMIM:618848 |
| Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Proximal ... |
OMIM:500002 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Myasthenic Syndrome, Congenital, 17 |
|
Muscle weakness, Type 1 muscle fiber predominance |
OMIM:616304 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles |
OMIM:147421 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... |
OMIM:612999 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl... |
OMIM:606070 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... |
OMIM:618823 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Distal muscle weakness, Fiber type grouping |
OMIM:614369 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Short stature, Neck flexor weakness, Ragged-red muscle f... |
ORPHA:457050 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... |
ORPHA:178464 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... |
OMIM:253600 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... |
ORPHA:178145 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:255200 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Myocarditis, Proximal muscle weak... |
ORPHA:206569 |
| Oculopharyngodistal Myopathy 2 |
|
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... |
OMIM:618940 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy, Muscle weakness |
ORPHA:247604 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:617066 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... |
OMIM:620068 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Congenital Myopathy 3 With Rigid Spine |
|
Poor head control, Short stature, Facial palsy, Neck flexor weakness, Centrally nucleated skeleta... |
OMIM:602771 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617072 |
| Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... |
OMIM:620138 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal muscle weakness, Short stature, Distal amyotrophy, Type 1 muscle fiber pr... |
OMIM:619042 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
| Zebra Body Myopathy |
|
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,... |
ORPHA:97240 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diame... |
OMIM:253601 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... |
ORPHA:86812 |
| Myasthenic Syndrome, Congenital, 12 |
|
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... |
OMIM:610542 |
| Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... |
ORPHA:266 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... |
OMIM:255320 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
| Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
| Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness |
OMIM:614750 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... |
OMIM:609283 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... |
OMIM:255310 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra... |
OMIM:618484 |
| Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Myalgia, Muscular dys... |
OMIM:123320 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Exercise-induced... |
OMIM:160565 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Abnormal peripheral nervous system synaptic transmission, Facial palsy, General... |
ORPHA:353327 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Short stature, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapulope... |
OMIM:255160 |
| Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Degeneration of ante... |
OMIM:253400 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi... |
OMIM:254130 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... |
OMIM:611705 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
| Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... |
OMIM:613954 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... |
ORPHA:486815 |
| Eosinophilic Fasciitis |
|
Fatigue, Fasciitis, Myositis, Arthritis, Arthralgia, Myalgia, Muscular edema |
ORPHA:3165 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... |
OMIM:618654 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness |
OMIM:205250 |
| Papa Syndrome |
|
Fatigue, Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Arthralgia, Crohn's... |
ORPHA:69126 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... |
OMIM:616437 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... |
OMIM:608099 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... |
OMIM:613204 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... |
OMIM:619216 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... |
OMIM:160500 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Distal muscle weakness, Short stature, Abnormal muscle f... |
ORPHA:598 |
| Myositis |
|
Myositis |
OMIM:160750 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... |
OMIM:615959 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ... |
OMIM:617069 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Focal Myositis |
|
Myositis, Myalgia |
ORPHA:48918 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Bulbar palsy, Facial palsy, Gowers sign, Decreased compound muscle action potential amplitude, Fl... |
OMIM:603511 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am... |
ORPHA:399081 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... |
OMIM:605637 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... |
OMIM:616812 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Gastrocnemius myalgia, Ragged-red muscle fibers, Increas... |
ORPHA:276435 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy, Distal muscle weakness |
OMIM:611895 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w... |
OMIM:609284 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... |
OMIM:300717 |
| Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy, Muscle wea... |
OMIM:253550 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... |
ORPHA:596 |
| Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Myalgi... |
ORPHA:171442 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Ophthalmoplegia, Optic atro... |
ORPHA:401768 |
| Myopathy, Distal, 3 |
|
Distal muscle weakness, Split hand, Distal amyotrophy, Muscular dystrophy, Late-onset proximal mu... |
OMIM:610099 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facial diplegia, Nec... |
OMIM:609285 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... |
ORPHA:424107 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... |
ORPHA:280333 |
| Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... |
OMIM:300559 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prog... |
ORPHA:169186 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re... |
OMIM:602099 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... |
OMIM:167320 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... |
OMIM:608807 |
| Congenital Myopathy 14 |
|
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... |
OMIM:618414 |
| Myopathy, Myofibrillar, 2 |
|
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... |
OMIM:608810 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers si... |
OMIM:617258 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Nemaline bodies |
OMIM:618246 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... |
OMIM:500009 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... |
OMIM:603689 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... |
OMIM:611615 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring cont... |
OMIM:300696 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal anterior horn cell mor... |
ORPHA:1145 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... |
OMIM:608340 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness, Frequent falls |
OMIM:616227 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m... |
OMIM:617070 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Skeletal ... |
OMIM:619518 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Arthrogryp... |
OMIM:254210 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Type 2 muscle fiber atrophy, Generalized hypotonia due to defect at the neuromuscular junction, M... |
OMIM:605809 |
| Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... |
OMIM:609452 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Distal muscle weakness, Short stature, Proximal muscle weakness, F... |
ORPHA:52430 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Prolonged miniature endplate currents, Fatigable wea... |
OMIM:603034 |
| Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness, Ataxia |
OMIM:616330 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... |
ORPHA:98911 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ... |
OMIM:300718 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Talipes cavus equin... |
ORPHA:59135 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
| Nemaline Myopathy 7 |
|
Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ... |
OMIM:610687 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Distal muscle weakness, Decreased... |
OMIM:607684 |
| Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs |
ORPHA:309169 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy, Exercise intolerance |
OMIM:255100 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe... |
OMIM:300816 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Prolonged miniature endplate currents, Upper ... |
OMIM:601462 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weakness, Quadricep... |
OMIM:620389 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Short stature, Centrally nucleated skeletal muscle fib... |
OMIM:248800 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
| Muscle Filaminopathy |
|
Back pain, Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory mus... |
ORPHA:171445 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
| Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies |
OMIM:615348 |
| Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir... |
OMIM:616165 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... |
ORPHA:75840 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Muscle weakness |
OMIM:614808 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the intrinsic hand muscles |
OMIM:614373 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of peripheral nerv... |
ORPHA:65684 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased... |
OMIM:607855 |
| Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Pneumonia, Elbow flexion contracture, Hamstring contrac... |
ORPHA:97244 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Decreased miniature endplate potentials, Prolonged miniature endplate currents |
OMIM:616321 |
| Glycogen Storage Disease X |
|
Exercise intolerance, Myopathy, Exercise-induced myalgia, Rhabdomyolysis |
OMIM:261670 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Flexion contracture, Generalized amyotrophy |
OMIM:618323 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness |
OMIM:619141 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... |
OMIM:256030 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased vari... |
OMIM:613157 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased variability in muscle fib... |
OMIM:619473 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... |
OMIM:608930 |
| Central Core Disease |
|
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... |
ORPHA:597 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Abdominal pain, Oligoarthritis, Bone pain, Arthralg... |
OMIM:142680 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Paucity of a... |
OMIM:611890 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy... |
OMIM:619574 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... |
OMIM:620265 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
| King-Denborough Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscl... |
OMIM:619542 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle weakness, Rimm... |
ORPHA:263494 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... |
OMIM:618138 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Sudden cardiac death, Achilles tendon contracture, Type 1 muscle fiber a... |
OMIM:310300 |
| Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Exercise intolerance, Achilles tendon contracture, Proximal amyotro... |
ORPHA:2596 |
| Idiopathic Camptocormia |
|
Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... |
ORPHA:1320 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Arthralgia, Myalgia, Rheumatoid arthritis |
ORPHA:48104 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph... |
ORPHA:169189 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... |
OMIM:614302 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Exercise-induced myalgia, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
| Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle w... |
OMIM:608627 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Limb-girdle muscle weakness, Multiple joint contractures, Myalgia, Myopathy |
ORPHA:352470 |
| Childhood-Onset Nemaline Myopathy |
|
Exercise intolerance, Scapular winging, Flexion contracture, Increased muscle lipid content, Gene... |
ORPHA:171439 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Exerci... |
ORPHA:99845 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... |
ORPHA:34515 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, M... |
OMIM:105550 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ... |
ORPHA:98905 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Musc... |
OMIM:105400 |
| Oculopharyngodistal Myopathy 4 |
|
Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth... |
OMIM:619790 |
| Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... |
OMIM:620249 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Congenital Myopathy 10A, Severe Variant |
|
Poor head control, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocit... |
OMIM:614399 |
| Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Gowers sign, Talipes equinovarus, Type 1 muscle fiber predominanc... |
OMIM:617336 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... |
OMIM:253700 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sc... |
OMIM:612069 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Gowers sign, Limb-girdle musc... |
OMIM:613818 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Leber Hereditary Optic Neuropathy |
|
Myopathy |
ORPHA:104 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Fatigue, Ragged-red muscle fibers, Abdominal pain |
OMIM:616794 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness... |
OMIM:620285 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Proximal amyotrophy |
OMIM:608030 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... |
ORPHA:600 |
| Neutral Lipid Storage Disease With Myopathy |
|
Exercise intolerance, Myopathy, Increased muscle lipid content, Myalgia |
OMIM:610717 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy |
ORPHA:154 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... |
OMIM:608931 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Myalgia, Myopathy |
ORPHA:2349 |
| Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, External ophthalmo... |
OMIM:620351 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture, Muscle weakness |
OMIM:607225 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Proximal muscle wea... |
ORPHA:275872 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Muscle weakness, Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respiratory insuffici... |
OMIM:161800 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Flexion contracture, Panniculitis |
OMIM:619183 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Spastic Paraparesis And Deafness |
|
Tremor, Short stature, Spastic paraparesis |
OMIM:312910 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Gowers sign, Achilles tend... |
ORPHA:353 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine... |
ORPHA:329478 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
| Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Arthritis, Myopathy, Increased variability in muscle fiber ... |
ORPHA:397744 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... |
OMIM:253310 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormal lower motor ... |
OMIM:205100 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
| Graft Versus Host Disease |
|
Skeletal muscle atrophy, Fasciitis, Myositis, Dupuytren contracture, Maculopapular exanthema, Pne... |
ORPHA:39812 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Exercise intolerance, Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fib... |
ORPHA:254886 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Respiratory insufficiency due to muscle weakness, Gowers sign, Ragged-red muscle fibers, Limb mus... |
OMIM:609560 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Muscle weakness, Type ... |
OMIM:618276 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Gowers sign, Flexion contracture, Generalized ... |
OMIM:613723 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Exercise intolerance, Ragged-red muscle fibers, Myalgia |
OMIM:619024 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... |
OMIM:611588 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, Plantar flexion contrac... |
OMIM:620011 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we... |
OMIM:607459 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Myopathy... |
OMIM:301830 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Exercise intolerance, Myopathy, Shoulder girdle muscle weakness, Myalgia, Generalized amyotrophy,... |
OMIM:615156 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:617892 |
| Cap Myopathy |
|
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... |
ORPHA:171881 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, Congenital contracture, Flexion contracture, Centrally nucle... |
OMIM:615368 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Whipple Disease |
|
Fatigue, Myositis, Pericarditis, Abdominal pain, Myocarditis, Uveitis, Arthritis, Arthralgia, Che... |
ORPHA:3452 |
| Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Exercise intolerance, Skeletal muscle atrophy, Chronic fatigue, Spinal muscular atrophy, Recurren... |
ORPHA:254875 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
| Mixed Connective Tissue Disease |
|
Fatigue, Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivit... |
ORPHA:809 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
| Antisynthetase Syndrome |
|
Myositis, Skin rash, Myocarditis, Keratoconjunctivitis sicca, Chest pain, Myalgia |
ORPHA:81 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Sudden cardiac death, Achil... |
ORPHA:98855 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Poor head control, Facial palsy, Ankle flexion contracture, ... |
OMIM:617519 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Progressive external ophthalmoplegia |
ORPHA:480 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, Increased int... |
ORPHA:681 |
| Acquired Partial Lipodystrophy |
|
Myopathy, Arthralgia |
ORPHA:79087 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia... |
OMIM:226670 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Poor head control, Inter... |
ORPHA:324604 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Proximal muscle weakness, Quadriceps muscle weakness, Generalized muscle weakness, Elbow flexion ... |
ORPHA:206546 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Skin rash, Pustule, Arthralgia, Pustular rash, Malar rash |
OMIM:615934 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Fatigue, Increased inflammatory response, Myositis, Sinusitis, Skin rash, Abdominal pain, Myocard... |
ORPHA:183 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy |
ORPHA:91130 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... |
ORPHA:171433 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Muscle weakness |
OMIM:105500 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Flexion contracture |
OMIM:618237 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:157973 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
| Bacterial Toxic-Shock Syndrome |
|
Pain, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Re... |
ORPHA:36234 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... |
ORPHA:206559 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Distal amyotrophy |
OMIM:215470 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis, Art... |
OMIM:617591 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
| Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ... |
ORPHA:272 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy |
OMIM:618236 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... |
ORPHA:178148 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Fatigable weakness |
OMIM:254190 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Proxima... |
OMIM:615352 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Sudden cardiac death, Achil... |
ORPHA:98863 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Abdominal pain, Discoid lupus rash, Arthritis, Arthralgia, Chest pain, Malar... |
ORPHA:93552 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Sudden cardiac death, Achil... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Sudden cardiac death, Achil... |
ORPHA:98853 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... |
OMIM:606353 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Lef... |
OMIM:252011 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers, Proximal muscle weakness |
OMIM:618416 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Growth delay, General... |
OMIM:613561 |
| Congenital Myopathy 16 |
|
EMG: myopathic abnormalities, Scapular winging, Flexion contracture |
OMIM:618524 |
| Thymoma |
|
Myositis, Glomerulonephritis, Night sweats, Ulcerative colitis, Chest pain, Myalgia, Rheumatoid a... |
ORPHA:99867 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Flexion contracture, Lower limb muscle weakness, Respirat... |
ORPHA:2590 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Myalgia, Sudden cardiac death |
ORPHA:764 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... |
ORPHA:228119 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Achilles tendon contracture, Ragged-red m... |
OMIM:615418 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy |
ORPHA:26792 |
| Van Den Bosch Syndrome |
|
Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
ORPHA:3417 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... |
OMIM:608840 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... |
ORPHA:216873 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ... |
ORPHA:258 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Knee pain, Myopathy, Osteoarthritis, Postexertional symptom exacerbation |
ORPHA:166002 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Exercise intolerance, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of fac... |
ORPHA:352447 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Exercise intolerance, Myopathy, Fatigue |
OMIM:613077 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Fatiguable weakness of proximal limb muscles, Tremor, Abnormality of the seventh cranial nerve, L... |
ORPHA:90117 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise intolerance, Myopathy, Rhabdomyolysis |
OMIM:300653 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Abdominal pain, Orchitis, Peritonitis, Uveitis, Art... |
ORPHA:32960 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Ophthalmoparesis |
OMIM:500003 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia |
ORPHA:438134 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Enhancement of the C-reflex, Myoclonus |
OMIM:615127 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Myalgia, Muscle fiber atrophy |
ORPHA:369840 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex |
OMIM:601068 |
| Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Knee flexion contracture, Generalized amyotrophy, Muscular dystro... |
OMIM:612954 |
| Spastic Paraplegia Type 7 |
|
Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle weakness, Lower lim... |
ORPHA:99013 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spa... |
OMIM:617284 |
| Glycogen Storage Disease Iii |
|
Myopathy, Distal amyotrophy |
OMIM:232400 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy |
OMIM:616549 |
| Juvenile Dermatomyositis |
|
Calcinosis, Fatigue, Myositis, Pericarditis, Skin rash, Abdominal pain, Arthritis, Arthralgia, My... |
ORPHA:93672 |
| Amyotrophy, Monomelic |
|
Upper limb muscle weakness, Cold paresis, Cervical spinal cord atrophy, Interosseus muscle atrophy |
OMIM:602440 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... |
ORPHA:2141 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Proximal musc... |
OMIM:254090 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Myalgia, Left ven... |
OMIM:619040 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Flexion contracture, Genera... |
OMIM:613327 |
| Sengers Syndrome |
|
Fatigue, Myopathy, Exercise intolerance, Sudden cardiac death |
OMIM:212350 |
| Myasthenia Gravis |
|
Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis |
ORPHA:589 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Fatigue, Limb-girdle muscle weakness, Myopathy |
ORPHA:1215 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy |
OMIM:615980 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Progressive external ophthalmoplegia, Generalized muscle weakness, Ragged-red muscle fibers, Musc... |
OMIM:613662 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Poor head control, Ankle flexion contracture, Decreased nerve conduction velocit... |
ORPHA:319514 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma... |
ORPHA:99939 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Decreased compound muscle action potential amplitude, Small thenar eminence, Di... |
OMIM:620080 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy |
OMIM:618234 |
| Typical Nemaline Myopathy |
|
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... |
ORPHA:171436 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Distal muscle weakness, Short stature, Generalized amyotrophy, Abnormal upper motor neuron morpho... |
OMIM:601162 |
| Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Fatigable weakness ... |
ORPHA:803 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... |
ORPHA:37042 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Diaphragmatic eventration, Distal muscle weakness, Spinal muscular atrophy, Camptodactyly of fing... |
OMIM:604320 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
| Cataract-Ataxia-Deafness Syndrome |
|
Short stature, Ataxia, Tremor, Decreased nerve conduction velocity, Hypertonia |
ORPHA:1368 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Enhancement of the C-reflex, Giant somatosensory evoked potentials, Myoclonus |
OMIM:613608 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter |
OMIM:613752 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Abdominal pain, Keratitis, Lymphadeni... |
ORPHA:2552 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Exercise intolerance, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellul... |
OMIM:255125 |
| Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia |
ORPHA:171719 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Limb muscle weakness, Bulbar palsy |
OMIM:619133 |
| Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers, Ophthalmoparesis |
OMIM:610246 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:254950 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... |
OMIM:617228 |
| Behçet Disease |
|
Fatigue, Increased inflammatory response, Myositis, Pericarditis, Acne, Abdominal pain, Orchitis,... |
ORPHA:117 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ophthalmoplegia, Ragged-red muscle... |
OMIM:616479 |
| Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Pr... |
ORPHA:276244 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:614100 |
| Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Prolonged miniatur... |
ORPHA:98915 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Fatigue, Exercise intolerance, Ragged-red muscle fibers, Chest pain, Myalgia, Lower limb pain |
ORPHA:1349 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:380 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Pain, Ragged-red muscle fibers |
ORPHA:477774 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter |
OMIM:614096 |
| Myopathic Ehlers-Danlos Syndrome |
|
Exercise intolerance, Congenital muscular torticollis, Decreased muscle mass, Multiple joint cont... |
ORPHA:536516 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy... |
OMIM:615084 |
| Fetal Encasement Syndrome |
|
Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth |
OMIM:613630 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal... |
OMIM:258450 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal upper limb muscle weakness, Distal lo... |
OMIM:500013 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita |
OMIM:619334 |
| Spinocerebellar Ataxia With Epilepsy |
|
Myopathy |
ORPHA:254881 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
| Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Proximal muscle weakness, Proximal amyotrophy |
OMIM:604484 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigue, Skeletal muscle atrophy, Exercise-induced myalgia, Myopathy, Distal arthrogryposis |
ORPHA:42 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Fatigue, Myopathy |
ORPHA:257 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myalgia, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369847 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Exercise intolerance, Rhabdomyolysis, Increased muscle lipid content, Tubulointerstitial nephriti... |
ORPHA:228302 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature |
OMIM:616239 |
| X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Fatigue, Exercise intolerance, Ragged-red muscle fibers, Limb muscle weakness, Myalgia, EMG: myop... |
OMIM:609286 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy, Myalgia, Pancre... |
ORPHA:2348 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myalgia, Myopathy, Rhabdomyolysis |
ORPHA:713 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Neck flexor weakn... |
ORPHA:300605 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Bowel incontinence, Flexion contracture, Skeletal muscle hypertrophy, My... |
ORPHA:682 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Abnormal muscle fiber morphology, Ophthalmo... |
ORPHA:3068 |
| Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Myoclonus... |
ORPHA:391417 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Growth delay, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
| Glycogen Storage Disease Xv |
|
Scapular winging, Muscle weakness, Type 1 muscle fiber predominance |
OMIM:613507 |
| Myasthenic Syndrome, Congenital, 19 |
|
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... |
OMIM:616720 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Xanthinuria, Type I |
|
Myopathy, Pyelonephritis |
OMIM:278300 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Fatigue, Skeletal muscle atrophy, Scapular winging, Myopathy, Myalgia, Weakness of facial muscula... |
ORPHA:98673 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... |
ORPHA:171430 |
| Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy |
OMIM:601419 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor |
OMIM:620158 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertr... |
ORPHA:79083 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Exercise intolerance, Rhabdomyolysis, Episodic abdominal pain, Myopathy, Exercise-induced myalgia... |
ORPHA:228305 |
| Primary Sjögren Syndrome |
|
Fatigue, Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumon... |
ORPHA:289390 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ophthalmoplegia, Optic atrophy, Distal amyotrophy, Muscle weakness, Fiber type grouping |
OMIM:271245 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... |
ORPHA:397946 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Ragged-red muscle fibers, Facial palsy, Muscle weakness |
OMIM:606407 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibers, Generalized... |
OMIM:600462 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous... |
ORPHA:329284 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Abno... |
OMIM:601163 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Optic disc pallor, Short stature, Congenital diaphragmatic hernia |
OMIM:300887 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Short stature, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apr... |
OMIM:612438 |
| Isolated Anencephaly |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Spasticity, Ataxia, Tremor |
OMIM:278780 |
| Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance |
OMIM:619028 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Abnormal aut... |
OMIM:618049 |
| Glycogen Storage Disease Vii |
|
Exercise intolerance, Gout, Increased muscle glycogen content, Exercise-induced myalgia, Myalgia,... |
OMIM:232800 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, External ophthalmoplegia, Flexion contracture, Growth ... |
OMIM:619026 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
| Familial Isolated Hypoparathyroidism |
|
Myopathy |
ORPHA:2238 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
| Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula... |
ORPHA:559 |
| Immunodeficiency 9 |
|
Stomatitis, Myopathy, Recurrent aphthous stomatitis |
OMIM:612782 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fatigue, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb mus... |
ORPHA:209335 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,... |
OMIM:619738 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
| Adrenomyodystrophy |
|
Myopathy |
ORPHA:977 |
| Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:604377 |
| Hereditary Xanthinuria |
|
Chronic fatigue, Flank pain, Gout, Myopathy, Rheumatoid arthritis |
ORPHA:3467 |
| Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
| Chanarin-Dorfman Syndrome |
|
Myopathy |
OMIM:275630 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ... |
OMIM:166300 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... |
OMIM:157640 |
| Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
| Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Chronic pancreatitis, Generalized lim... |
ORPHA:98908 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
| Amyotrophic Lateral Sclerosis 19 |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Acrocallosal Syndrome |
|
Postaxial hand polydactyly, Congenital diaphragmatic hernia, Triphalangeal thumb |
ORPHA:36 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia |
OMIM:615524 |
| Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intent... |
OMIM:610185 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia, Progressive muscle ... |
OMIM:615919 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Osteomyelitis leading to amputation due to ... |
OMIM:112250 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture |
OMIM:620240 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fatigue, Myositis, Thyroiditis, Tubulointerstitial nephritis, Abnormality of the extraocular musc... |
ORPHA:79078 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy |
ORPHA:363400 |
| Danon Disease |
|
Myocardial necrosis, Distal muscle weakness, Proximal muscle weakness, Lower limb amyotrophy, EMG... |
OMIM:300257 |
| Leber Optic Atrophy |
|
Myopathy |
OMIM:535000 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Fatigue, Exercise intolerance |
OMIM:617713 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoparesis, Proximal amyotrophy |
OMIM:159400 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Congenital diaphragmatic hernia |
ORPHA:1166 |
| Oculopharyngodistal Myopathy 1 |
|
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness, External oph... |
OMIM:164310 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Distal muscle weakness, Externa... |
ORPHA:298 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Arachnodactyly, Rocker bottom foot, Flexion contracture, Acute infantile s... |
OMIM:271225 |
| Carcinoid Syndrome |
|
Myopathy, Night sweats, Episodic abdominal pain |
ORPHA:100093 |
| Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
| Schisis Association |
|
Spina bifida, Congenital diaphragmatic hernia, Micromelia |
ORPHA:63862 |
| 4H Leukodystrophy |
|
Dystonia, Short stature, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdi... |
ORPHA:289494 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Knee flexion contracture, Distal amyotrophy, Skeletal myopathy, Lower li... |
ORPHA:3208 |
| Carnitine Deficiency, Systemic Primary |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212140 |
| Congenital Myasthenic Syndrome |
|
Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i... |
ORPHA:98914 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Short stature, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria... |
OMIM:607694 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Proximal muscle weakness, Ragged-red muscle fibers, Ophthalmoparesis, Atrophy/Degeneration involv... |
ORPHA:70595 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
| Postpoliomyelitis Syndrome |
|
Fatigue, Skeletal muscle atrophy, Arthralgia, Myalgia, Pain |
ORPHA:2942 |
| Cystinosis |
|
Fatigue, Myopathy |
ORPHA:213 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Scapular winging, Distal muscle weakness, Optic atrophy, ... |
OMIM:614298 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Growth delay, Bradykinesia, Dystonia, Limb h... |
ORPHA:70594 |
| Polymyositis |
|
Fatigue, Pericarditis, Abnormal muscle fiber morphology, Abdominal pain, Arthritis, Arthralgia, M... |
ORPHA:732 |
| Congenital Myopathy 9A |
|
EMG: myopathic abnormalities |
OMIM:618822 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis |
OMIM:614831 |
| Glycogen Storage Disease Xii |
|
Myopathy, Cholecystitis, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
| Xp21 Deletion Syndrome |
|
Decreased muscle mass, Calf muscle hypertrophy, Myopathy, Exercise-induced myalgia, Recurrent oti... |
ORPHA:261476 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy |
ORPHA:367 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting |
OMIM:606408 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Arthritis, Panniculitis |
ORPHA:51 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myopathy, Rhabdomyolysis, Myalgia |
OMIM:609015 |
| Ane Syndrome |
|
Multiple joint contractures, Short stature, Ulnar deviation of the hand, Motor neuron atrophy, Ge... |
ORPHA:157954 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Myopathy, EMG: myopathic abnormalities, Myalgia, Sudden cardiac death |
ORPHA:99901 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Weakness of facial musculature, Flexion contracture, Myopathy |
OMIM:201470 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Abnormal nerve conduction velocity |
ORPHA:99014 |
| Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities |
ORPHA:457365 |
| Chylomicron Retention Disease |
|
Myopathy, EMG: myopathic abnormalities |
ORPHA:71 |
| Kearns-Sayre Syndrome |
|
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Short stature, Muscle weakness |
OMIM:530000 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Short stature, Proximal muscle weakness, Gowers sign, Increased variability in... |
ORPHA:502423 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Chronic otitis media, Increased variability in muscle fiber diameter, Type 1 muscle fiber predomi... |
OMIM:612949 |
| Neuromuscular Oculoauditory Syndrome |
|
Poor head control, Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle hyp... |
OMIM:618733 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Short stature, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxi... |
ORPHA:1170 |
| Scleromyxedema |
|
Myopathy, Arthralgia, Myalgia, Abnormal skeletal muscle morphology |
ORPHA:167635 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Myalgia |
ORPHA:684 |
| Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Decreased motor nerv... |
ORPHA:79139 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Myopathy, Pneumonia |
ORPHA:169090 |
| Localized Scleroderma |
|
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Uveitis, Arthritis, Myopathy, Arthralgia... |
ORPHA:90289 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities |
OMIM:620326 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
| Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Tapered finger, Small hand, 2-3 toe syndactyly |
ORPHA:284180 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1520 |
| Tonne-Kalscheuer Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Growth delay, Broad thumb, Brachydactyly |
OMIM:300978 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Increased muscle lipid content, Abnormality of the calf mus... |
ORPHA:565612 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Fatigue, Exercise intolerance, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers... |
ORPHA:254892 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
| Optic Atrophy 11 |
|
Short stature, Optic nerve hypoplasia, Optic atrophy, Facial diplegia, Bilateral talipes equinova... |
OMIM:617302 |
| Serkal Syndrome |
|
Growth delay, Congenital diaphragmatic hernia |
ORPHA:139466 |
| Mcleod Syndrome |
|
Myopathy, Rhabdomyolysis |
OMIM:300842 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi... |
ORPHA:263297 |
| 15Q24 Microdeletion Syndrome |
|
Short stature, Proximal placement of thumb, Congenital diaphragmatic hernia, Postnatal growth ret... |
ORPHA:94065 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Muscle weakness |
OMIM:613435 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
| 13Q12.3 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Camptodactyly, Intrauterine growth retardation, H... |
ORPHA:412035 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Gr... |
OMIM:614381 |
| Stormorken Syndrome |
|
Myopathy, Myalgia |
OMIM:185070 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Short stature, Congenital diaphragmatic hernia |
ORPHA:370079 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Spina bifida, Congenital diaphragmatic hernia, Short thumb, Preaxial... |
ORPHA:1120 |
| Myotonic Dystrophy 2 |
|
Neck flexor weakness, Proximal muscle weakness, Generalized amyotrophy, Weakness of facial muscul... |
OMIM:602668 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Abnormality of skeletal muscle fiber size, Congenital con... |
ORPHA:168572 |
| Pseudoachondroplasia |
|
Skeletal myopathy, Osteoarthritis, Arthralgia |
ORPHA:750 |
| Jansen-De Vries Syndrome |
|
Short stature, Central diaphragmatic hernia, Small hand, Short foot, Brachydactyly |
OMIM:617450 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... |
ORPHA:101 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Exercise intolerance, Rhabdomyolysis, Episodic abdominal pain, Tubulointerstitial nephritis, Myop... |
ORPHA:157 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension |
OMIM:263570 |
| Cooper-Jabs Syndrome |
|
Proximal placement of thumb, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
| Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
| Snakebite Envenomation |
|
Pain, Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera... |
OMIM:618022 |
| Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Progressive spasticity, Truncal ataxia, ... |
OMIM:210000 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Dystonia |
ORPHA:683 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy |
OMIM:619743 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Babinski sign, Torsion d... |
OMIM:128100 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Tetrasomy 9P |
|
Fatigue, Arthritis, Myositis, Pericarditis |
ORPHA:3310 |
| Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy |
ORPHA:1358 |
| Coffin-Siris Syndrome 3 |
|
Short stature, Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Macroglossia... |
OMIM:614608 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
| 1Q41Q42 Microdeletion Syndrome |
|
Growth delay, Short stature, Talipes equinovarus, Congenital diaphragmatic hernia |
ORPHA:250999 |
| Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Short stature, Writer's cramp, Ataxia, Tremor, Head titubation, Spastic par... |
OMIM:312080 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Myopathy, EMG: myopathic abnormalities, Shoulder girdle muscle weakness, Increased intramyocellul... |
ORPHA:98907 |
| Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Arthritis, Limb pai... |
ORPHA:206572 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... |
OMIM:607876 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy |
OMIM:614922 |
| Craniorachischisis |
|
Cervical spina bifida, Sirenomelia, Congenital diaphragmatic hernia, Spinal dysraphism |
ORPHA:63260 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Exercise intolerance, Rigors, Rhabdomyolysis, Skeletal myopathy, Myalgia, Left ventricular hypert... |
ORPHA:746 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnor... |
ORPHA:52368 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... |
OMIM:617013 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... |
ORPHA:2020 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter |
OMIM:615595 |
| Barth Syndrome |
|
Fatigue, Skeletal myopathy, Exercise intolerance |
OMIM:302060 |
| Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Spina bifida, 2-3 finger syndactyly, Clubb... |
ORPHA:2437 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Short stature, Congenital diaphragmatic hernia |
OMIM:606164 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiol... |
OMIM:300894 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myopathy, Chest pain, Sudden cardiac death |
OMIM:115197 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2143 |
| Acquired Generalized Lipodystrophy |
|
Myopathy, Calf muscle pseudohypertrophy, Panniculitis, Acute pancreatitis |
ORPHA:79086 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:607426 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Growth delay, Pseudobulbar... |
OMIM:616586 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Proximal upper limb muscle hypertrophy, Skeletal muscle hypertrophy, Myopathy, Muscle hypertrophy... |
ORPHA:280365 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Growth delay, Distal amyotrophy, Increased variability in muscle fiber diameter, M... |
OMIM:617675 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619699 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... |
OMIM:254940 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contrac... |
OMIM:619036 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Metaphyseal widening, Flexion contracture, Congenital diaphragmatic hernia, Ulnar deviation of th... |
OMIM:263210 |
| Zaki Syndrome |
|
Toe syndactyly, Short stature, Congenital diaphragmatic hernia, Long fingers, Ectrodactyly, Broad... |
OMIM:619648 |
| Fetal Alcohol Syndrome |
|
Intrauterine growth retardation, Short stature, Congenital diaphragmatic hernia |
ORPHA:1915 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology |
ORPHA:412066 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
| Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Rhabdomyolysis, Ophthalmoparesis, Episodic flaccid weakness, Re... |
ORPHA:79102 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Intra... |
ORPHA:2311 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Tubulointerstitial nephritis, Myopathy, Abdominal pain |
ORPHA:85450 |
| Sanjad-Sakati Syndrome |
|
Myopathy |
ORPHA:2323 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Myopathy, Cholecystitis |
OMIM:615512 |
| Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Postaxial hand polydactyly, Congenital diaphragmatic hernia, Bra... |
ORPHA:2075 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Congenital diaphragmatic hernia |
ORPHA:2063 |
| Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
| Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia |
ORPHA:95706 |
| Usher Syndrome |
|
Myopathy |
ORPHA:886 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... |
OMIM:168600 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... |
ORPHA:99027 |
| Melas |
|
Exercise intolerance, Ragged-red muscle fibers, Myopathy, Recurrent pancreatitis, Abnormal mitoch... |
ORPHA:550 |
| Seckel Syndrome 9 |
|
Intrauterine growth retardation, Short stature, Talipes equinovarus, Congenital diaphragmatic hernia |
OMIM:616777 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Arthrogryposis multiplex congenita, Decreased muscle mass, Recurrent skin infections, Myopathy |
ORPHA:2953 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy |
OMIM:613154 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Generalized muscle weakness, Elbow flexion contracture, EMG: myopathic abn... |
ORPHA:1900 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Short stature, Congenital diaphragmatic hern... |
ORPHA:1001 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance |
OMIM:614557 |
| Congenital Myopathy 17 |
|
Diaphragmatic eventration, Distal arthrogryposis, Myopathy |
OMIM:618975 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... |
OMIM:613150 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ophthalmoplegia, Ragged-red muscle fibers, Poor head control |
OMIM:614924 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Proximal muscle weakness |
OMIM:615911 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
| Malignant Hyperthermia Of Anesthesia |
|
Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab... |
ORPHA:423 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, EMG: myopathic abnormalities, Elbow flexion contracture, Knee flexion contracture |
ORPHA:371364 |
| Intellectual Disability-Strabismus Syndrome |
|
Short stature, Rocker bottom foot, Congenital diaphragmatic hernia, Achilles tendon contracture, ... |
ORPHA:363528 |
| Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Talipes equinovarus, Intraut... |
OMIM:618651 |
| Diamond-Blackfan Anemia 10 |
|
Growth delay, Short stature, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:2470 |
| Pericardial And Diaphragmatic Defect |
|
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
ORPHA:2847 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Short stature, Proximal placement of thumb, Congenital diaphragmatic hernia... |
ORPHA:251071 |
| Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Hypoplasia of the ulna, Congenital diaphragmatic hernia, Split hand, Hypoplasi... |
ORPHA:958 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overlapping fingers, Increased variability in muscle fiber diameter, Femoral bowing,... |
OMIM:617022 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Dysmetria, Titubation |
OMIM:619405 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of... |
ORPHA:1647 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... |
ORPHA:240071 |
| Glycerol Kinase Deficiency |
|
Myopathy, Muscular dystrophy, Chronic pancreatitis |
OMIM:307030 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Myopathy, Hashimoto thyroiditis |
ORPHA:109 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Short stature, Congenital diaphragmatic hernia, 3-4 finger cutaneous syndactyly, Tali... |
OMIM:612530 |
| Leigh Syndrome |
|
Myopathy, Multiple joint contractures, Eczema, Skeletal muscle atrophy |
ORPHA:506 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities |
ORPHA:2549 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Short stature, Arachnodactyly, Congenital diaphragmatic hernia, Sandal gap, Camptodactyly, Clinod... |
OMIM:617602 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Hand polydactyly, Syringomyelia, Congenital diaphragmatic hernia |
ORPHA:261197 |
| Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1692 |
| Stromme Syndrome |
|
Myopathy |
OMIM:243605 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Progressive external ophthalmoplegia, Distal muscle weakness, Ragged-red muscle fibers, Ophthalmo... |
OMIM:603041 |
| Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:261344 |
| Lowry-Maclean Syndrome |
|
Growth delay, Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:2409 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
OMIM:611812 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:600274 |
| Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Congenital diaphragmatic hernia |
ORPHA:1834 |
| Emanuel Syndrome |
|
Intrauterine growth retardation, Joint contracture, Torticollis, Congenital diaphragmatic hernia |
OMIM:609029 |
| Alpha-Mannosidosis, Infantile Form |
|
Facial hypotonia, Pneumonia, Macroglossia, Myopathy, Asthenia, Otitis media |
ORPHA:309282 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Myopathy |
OMIM:162300 |
| Iniencephaly |
|
Rhizomelia, Rocker bottom foot, Spina bifida, Congenital diaphragmatic hernia, Spinal dysraphism,... |
ORPHA:63259 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Poor head control, Optic disc pallor, Optic neuropathy, Ragged-red muscl... |
OMIM:252010 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop... |
ORPHA:800 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
| Chromosome 15Q25 Deletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Long fingers, Growth delay, Intrauterine growth r... |
OMIM:614294 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:219100 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hallux valgus, Rhizomelia, Short stature, Congenital diaphragmatic hernia, Spatulate thumbs, Broa... |
OMIM:245600 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Myopathy, Panniculitis, Otitis media |
OMIM:612541 |
| White-Sutton Syndrome |
|
Facial hypotonia, Short stature, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Intraut... |
OMIM:616364 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Multiple joint contractures, Short stature, Arachnodactyly, Congenital diaphragmatic ... |
OMIM:265000 |
| Abetalipoproteinemia |
|
Myopathy, Keratoconjunctivitis sicca, Distal lower limb muscle weakness, Myalgia |
ORPHA:14 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... |
ORPHA:48818 |
| Emanuel Syndrome |
|
Growth delay, Intrauterine growth retardation, Multiple joint contractures, Congenital diaphragma... |
ORPHA:96170 |
| Vacterl/Vater Association |
|
Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Aplasia/Hypoplasia... |
ORPHA:887 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, ... |
OMIM:606002 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Wolfram Syndrome |
|
Myopathy |
ORPHA:3463 |
| Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:1780 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Congenital diaphragmatic hernia |
OMIM:222448 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Myopathy |
OMIM:261740 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Short humerus, Short femur, Flexion contracture, Ragged-red muscle fiber... |
ORPHA:17 |
| Vici Syndrome |
|
Left ventricular hypertrophy, Myopathy, Chronic mucocutaneous candidiasis |
OMIM:242840 |
| Dermatomyositis |
|
Fatigue, Pericarditis, Myocarditis, Inflammatory myopathy, Arthritis, Arthralgia, Myalgia, Gangrene |
ORPHA:221 |
| Pentalogy Of Cantrell |
|
Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Congenital diaphragmatic... |
ORPHA:1335 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Myopathy, Decreased muscle mass, Urinary incontinence |
OMIM:234200 |
| Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Aganglionic megacolon, Short stat... |
OMIM:154400 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Congenital diaphragmatic hernia, Split hand, Elbow flexio... |
OMIM:200980 |
| Caribbean Parkinsonism |
|
EMG: myopathic abnormalities |
ORPHA:97355 |
| Pagod Syndrome |
|
Optic atrophy, Spina bifida, Short stature, Congenital diaphragmatic hernia |
ORPHA:991 |
| Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... |
OMIM:146500 |
| Trisomy 18 |
|
Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida, Postaxial ... |
ORPHA:3380 |
| Craniofrontonasal Syndrome |
|
Toe syndactyly, Broad hallux, Short stature, Congenital diaphragmatic hernia, Clinodactyly of the... |
OMIM:304110 |
| Microphthalmia, Syndromic 9 |
|
Diaphragmatic eventration, Severe short stature, Short stature, Congenital diaphragmatic hernia, ... |
OMIM:601186 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ragged-red muscle fibers, Optic atrophy, Muscle weakness, Ophthalmoparesis |
ORPHA:255210 |
| White-Sutton Syndrome |
|
Facial hypotonia, Optic atrophy, Short stature, Congenital diaphragmatic hernia |
ORPHA:468678 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Fatigue, Exercise intolerance, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes,... |
ORPHA:365 |
| Oligomeganephronia |
|
Optic disc coloboma, Congenital diaphragmatic hernia |
ORPHA:2260 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
EMG: myopathic abnormalities, Acute rhabdomyolysis |
ORPHA:480864 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Spina bifida, Diastasis recti, Congen... |
ORPHA:2092 |
| Distal Deletion 15Q |
|
Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, 2-3 toe cutaneous s... |
ORPHA:1596 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:615530 |
| Cornelia De Lange Syndrome 1 |
|
Short stature, Congenital diaphragmatic hernia, Micromelia, Proximal placement of thumb, Optic di... |
OMIM:122470 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:536545 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:313850 |
| Limb Body Wall Complex |
|
Duplication of hand bones, Broad hallux, Diastasis recti, Spina bifida, Congenital diaphragmatic ... |
ORPHA:2369 |
| Microform Holoprosencephaly |
|
EMG: myopathic abnormalities |
ORPHA:280200 |
| Aymé-Gripp Syndrome |
|
Short stature, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Postnatal gro... |
ORPHA:1272 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Flexion contracture, Myopathy |
ORPHA:3042 |
| Fryns Syndrome |
|
Clinodactyly of the 5th finger, Aganglionic megacolon, Congenital diaphragmatic hernia, Short dis... |
ORPHA:2059 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short stature, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Optic disc coloboma... |
OMIM:618454 |
| Mycophenolate Mofetil Embryopathy |
|
Foot polydactyly, Congenital diaphragmatic hernia, Short palm |
ORPHA:268249 |
| Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Brachydactyly, Short stature, Overlapping toe, Postaxial pol... |
ORPHA:221120 |
| Mullegama-Klein-Martinez Syndrome |
|
Short stature, Facial palsy, Congenital diaphragmatic hernia, Polydactyly, Clinodactyly of the 5t... |
OMIM:301022 |
| Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia |
OMIM:194080 |
| Arterial Tortuosity Syndrome |
|
Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:208050 |
| Choreoacanthocytosis |
|
Peroneal muscle atrophy, Arthritis, Distal amyotrophy, Myopathy, Muscle fiber atrophy |
ORPHA:2388 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Congenital diaphragmatic hernia, Micromelia |
OMIM:616546 |
| Poland Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Congenital diaph... |
ORPHA:2911 |
| Holoprosencephaly |
|
Congenital diaphragmatic hernia, Optic atrophy, Spinal cord tumor, Spinal dysraphism, Hand polyda... |
ORPHA:2162 |
| Wolf-Hirschhorn Syndrome |
|
Tethered cord, Arachnodactyly, Short hallux, Congenital diaphragmatic hernia, Short thumb, Preaxi... |
ORPHA:280 |
| Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Myopathy |
OMIM:219800 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Short distal phalanx of finger |
OMIM:614080 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
| Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Short stature, Congenital diaphragmatic hernia, Aganglionic megaco... |
ORPHA:818 |
| Perlman Syndrome |
|
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia |
OMIM:267000 |
| Diets-Jongmans Syndrome |
|
Short stature, Congenital diaphragmatic hernia |
OMIM:618846 |
| 7Q11.23 Microduplication Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Long fingers, Growth delay, Abnormal optic disc m... |
ORPHA:96121 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Broad hallux, 1-2 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger, Small hand, Gr... |
OMIM:301044 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Cholangitis, Rhabdomyolysis, Ragged-red muscle fibers, Tubulointerstitial n... |
OMIM:124000 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Congenital diaphragmatic hernia |
OMIM:309801 |
| Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li... |
OMIM:236680 |
| Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Short stature, Coxa valga, Osteolytic defects of the phalang... |
OMIM:182250 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
| Kabuki Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Small hand, Short middle phalanx of finger, Short... |
ORPHA:2322 |
| 1P36 Deletion Syndrome |
|
Myopathy, Camptodactyly of finger |
ORPHA:1606 |
| Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Toe syndactyly, Short 2nd finger, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:373 |
| Focal Dermal Hypoplasia |
|
Short metacarpal, Toe syndactyly, Short stature, Diastasis recti, Congenital diaphragmatic hernia... |
OMIM:305600 |
| Meacham Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:3097 |
| C Syndrome |
|
Toe syndactyly, Short stature, Congenital diaphragmatic hernia, Micromelia, Aplasia/Hypoplasia of... |
ORPHA:1308 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Growth delay, Congenital diaphragmatic hernia |
OMIM:617641 |
| Opitz Gbbb Syndrome |
|
Short stature, Congenital diaphragmatic hernia |
ORPHA:2745 |
| Monosomy 9P |
|
Abnormality of the tarsal bones, Postaxial hand polydactyly, Proximal placement of thumb, Congeni... |
ORPHA:261112 |
| Coffin-Siris Syndrome 1 |
|
Short stature, Sandal gap, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Po... |
OMIM:135900 |
| Williams Syndrome |
|
Sudden cardiac death, Abdominal pain, Macroglossia, Myopathy, Arthralgia, Chronic otitis media |
ORPHA:904 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intrauterine growth retardation, Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
OMIM:600001 |
| Cornelia De Lange Syndrome |
|
Toe syndactyly, Short stature, Abnormal morphology of ulna, Congenital diaphragmatic hernia, Micr... |
ORPHA:199 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:614437 |
| Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia |
OMIM:273395 |
| Cardiospondylocarpofacial Syndrome |
|
Short stature, Tarsal synostosis, Congenital diaphragmatic hernia, Short foot, Carpal synostosis,... |
OMIM:157800 |
| Witteveen-Kolk Syndrome |
|
Toe syndactyly, Short stature, Overlapping toe, Congenital diaphragmatic hernia, Proximal placeme... |
OMIM:613406 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Growth delay, Severe short stature, Congenital diaphragmatic hernia |
ORPHA:2556 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:2255 |
| Proteus Syndrome |
|
Myofibrillar myopathy, Decreased muscle mass, Sudden cardiac death |
ORPHA:744 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad toe, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Postaxial polydact... |
OMIM:312870 |
| Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Leiomyosarcoma, Macroglossia |
ORPHA:116 |
| Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Congenital diaphragmatic hernia |
OMIM:618280 |
| Pallister-Killian Syndrome |
|
Tethered cord, Rhizomelia, Congenital diaphragmatic hernia, Mesomelic/rhizomelic limb shortening,... |
OMIM:601803 |
