Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
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Proximal muscle weakness, Pelvic girdle muscle weakness, Myopathy, Temporal cortical atrophy, Lim... |
OMIM:167320 |
Central Core Disease Of Muscle |
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Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Tibial Muscular Dystrophy |
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Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... |
OMIM:608423 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
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Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Shoulder girdle muscle atrophy,... |
OMIM:254110 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
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Progressive distal muscle weakness, Autophagic vacuoles, Facial diplegia, Respiratory insufficien... |
ORPHA:399058 |
Myopathy, Centronuclear, 2 |
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Gowers sign, Proximal muscle weakness, Talipes equinovarus, Respiratory insufficiency due to musc... |
OMIM:255200 |
Gne Myopathy |
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Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
Myopathy, Scapulohumeroperoneal |
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Skeletal muscle atrophy, Neck flexor weakness, Wrist drop, Progressive muscle weakness, Achilles ... |
OMIM:616852 |
Salih Myopathy |
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Dilated cardiomyopathy, Myopathy, Mitochondrial depletion, Facial palsy, Generalized muscle weakn... |
OMIM:611705 |
Myopathy, Myofibrillar, 4 |
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Progressive distal muscle weakness, Autophagic vacuoles, Progressive muscle weakness, EMG: myopat... |
OMIM:609452 |
Myopathy, Myofibrillar, 3 |
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Proximal muscle weakness, Progressive distal muscle weakness, Muscle fiber cytoplasmatic inclusio... |
OMIM:609200 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
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Myopathy, Ragged-red muscle fibers, Myoclonus, Seizure, Muscle weakness, Ataxia, Generalized myoc... |
OMIM:545000 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Gowers sign, Myopathy, Proximal muscle weakness, Triceps weakness, Generalized amyotrophy, Cardio... |
ORPHA:86812 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Gowers sign, Adducted thumb, Weakness of facial musculature, Talipes equinovarus, Small for gesta... |
OMIM:618484 |
Myopathy, Myosin Storage, Autosomal Dominant |
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Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Genera... |
OMIM:608358 |
Myofibrillar Myopathy 11 |
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Gowers sign, Proximal muscle weakness, Z-band streaming, Generalized amyotrophy, Shoulder girdle ... |
OMIM:619178 |
Myopathy, Congenital, With Fiber-Type Disproportion |
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Dilated cardiomyopathy, Proximal muscle weakness, Limb joint contracture, Failure to thrive, Resp... |
OMIM:255310 |
Tubular Aggregate Myopathy |
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Fatiguable weakness of proximal limb muscles, Type 2 muscle fiber atrophy, Muscle fiber tubular i... |
ORPHA:2593 |
Distal Myopathy, Welander Type |
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Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... |
ORPHA:603 |
Distal Nebulin Myopathy |
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Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
Multiminicore Myopathy |
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Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Inclusion Body Myositis |
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Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal mu... |
ORPHA:611 |
Hereditary Myopathy With Early Respiratory Failure |
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Necrotizing myopathy, Proximal muscle weakness, Muscle fiber hypertrophy, Skeletal muscle atrophy... |
ORPHA:178464 |
Nemaline Myopathy 2 |
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Mitochondrial depletion, Slender build, Generalized muscle weakness, Late-onset distal muscle wea... |
OMIM:256030 |
Distal Myopathy With Anterior Tibial Onset |
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Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... |
ORPHA:178400 |
Spinal Muscular Atrophy, Infantile, James Type |
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Hip contracture, Short stature, Lumbar hyperlordosis, Muscle weakness, Increased variability in m... |
OMIM:619042 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
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Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
Myopathy, Centronuclear, 1 |
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Proximal muscle weakness, Skeletal muscle hypertrophy, External ophthalmoplegia, Facial palsy, EM... |
OMIM:160150 |
Bethlem Myopathy 2 |
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Proximal muscle weakness, Myopathy, Kyphosis, Muscle weakness, Hip dislocation, Increased variabi... |
OMIM:616471 |
Finnish Upper Limb-Onset Distal Myopathy |
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Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, EMG: myopathic abnorm... |
ORPHA:399086 |
Muscular Dystrophy, Congenital, Merosin-Positive |
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Proximal muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Facial pals... |
OMIM:609456 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
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Proximal amyotrophy, Proximal muscle weakness, Myopathy, Back pain, Hyperlordosis, Scapular wingi... |
OMIM:618129 |
Myopathy, Distal, With Rimmed Vacuoles |
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Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Proximal muscle weakness, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal mu... |
OMIM:618655 |
Vacuolar Neuromyopathy |
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Neck flexor weakness, Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centr... |
OMIM:601846 |
Laing Early-Onset Distal Myopathy |
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Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... |
ORPHA:59135 |
Myopathy, Distal, 5 |
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Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
Mitochondrial Myopathy With Diabetes |
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Proximal amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Decreased activity of mi... |
OMIM:500002 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Multiple joint contractures, Poor head control, Minicore myopathy, Limb muscle weakness, Respirat... |
ORPHA:486815 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Weakness... |
ORPHA:457050 |
Nonaka Myopathy |
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EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... |
OMIM:605820 |
Myopathy, Myosin Storage, Autosomal Recessive |
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Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... |
OMIM:255160 |
Nemaline Myopathy 5 |
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Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, P... |
OMIM:605355 |
Bethlem Myopathy 1 |
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Ankle flexion contracture, Myopathy, Proximal muscle weakness, Skeletal muscle atrophy, Torticoll... |
OMIM:158810 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
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Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... |
OMIM:158600 |
Amish Nemaline Myopathy |
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Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Progressive muscle weakness, ... |
ORPHA:98902 |
Marinesco-Sjogren Syndrome |
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Myopathy, Coxa valga, Skeletal muscle atrophy, Short stature, Failure to thrive, Progressive musc... |
OMIM:248800 |
Myopathy, Distal, 4 |
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Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardio... |
OMIM:614065 |
Nemaline Myopathy 7 |
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Gowers sign, Minicore myopathy, Myofibrillar myopathy, Respiratory insufficiency due to muscle we... |
OMIM:610687 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
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Proximal muscle weakness, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness... |
ORPHA:266 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
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Proximal muscle weakness, Weakness of facial musculature, Internally nucleated skeletal muscle fi... |
OMIM:618654 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Congenital Myopathy With Myasthenic-Like Onset |
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Proximal muscle weakness, Myopathy, Minicore myopathy, Failure to thrive, Respiratory insufficien... |
ORPHA:424107 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Dilated cardiomyopathy, Proximal muscle weakness, Respiratory insufficiency due to muscle weaknes... |
OMIM:300718 |
Minicore Myopathy With External Ophthalmoplegia |
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Type 1 and type 2 muscle fiber minicore regions, Proximal muscle weakness, Minicore myopathy, Ske... |
OMIM:255320 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Abnormality of the vertebral column, Proximal muscle weakness, Abnormal motor neuron morphology, ... |
ORPHA:52430 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Amyotroph... |
OMIM:613954 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
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Proximal muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Muscle weakness, Ca... |
OMIM:613530 |
Nemaline Myopathy 6 |
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Nemaline bodies, Myopathy, Neck flexor weakness, Limb muscle weakness |
OMIM:609273 |
King-Denborough Syndrome |
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Proximal muscle weakness, Ventricular septal defect, Minicore myopathy, Weakness of facial muscul... |
OMIM:619542 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
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Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Muscle weakness, Increased vari... |
OMIM:613204 |
Oculopharyngodistal Myopathy 2 |
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Weakness of facial musculature, External ophthalmoplegia, EMG: myopathic abnormalities, Rimmed va... |
OMIM:618940 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Hypertrophic cardiomyopathy, Proximal muscle weakness, Back pain, Rimmed vacuoles, Spinal rigidit... |
OMIM:300696 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
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Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Increased endomysial connective ... |
ORPHA:437572 |
Congenital Muscular Dystrophy, Ullrich Type |
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Torticollis, Generalized amyotrophy, Generalized muscle weakness, Slender finger, Elbow flexion c... |
ORPHA:75840 |
Inclusion Body Myositis |
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Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Klhl9-Related Early-Onset Distal Myopathy |
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Ankle flexion contracture, Weakness of the intrinsic hand muscles, Progressive distal muscle weak... |
ORPHA:399081 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
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Centrally nucleated skeletal muscle fibers, Myopathy, Generalized non-motor (absence) seizure, In... |
OMIM:618992 |
Myopathy, Proximal, With Ophthalmoplegia |
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Proximal muscle weakness, Myopathy, Generalized muscle weakness, Neck muscle weakness, Ophthalmop... |
OMIM:605637 |
Myopathy, Congenital Proximal, With Minicore Lesions |
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Proximal muscle weakness, Minicore myopathy, Z-band streaming, Fatty replacement of skeletal musc... |
OMIM:618823 |
Myopathy, Myofibrillar, 5 |
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Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Proxi... |
OMIM:609524 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
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EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... |
OMIM:608099 |
Distal Myotilinopathy |
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Progressive distal muscle weakness, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities,... |
ORPHA:98911 |
Scapuloperoneal Myopathy, X-Linked Dominant |
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Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Flexion contracture, Scapular wingin... |
OMIM:300695 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
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Proximal muscle weakness in lower limbs, Proximal muscle weakness, Muscle fiber necrosis, Calf mu... |
OMIM:618848 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
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Weakness of the intrinsic hand muscles, Wrist drop, Progressive proximal muscle weakness, General... |
ORPHA:98912 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
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Proximal muscle weakness, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal mor... |
OMIM:615424 |
Carnitine Deficiency, Myopathic |
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Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine |
OMIM:212160 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Distal Anoctaminopathy |
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Progressive muscle weakness, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrop... |
ORPHA:399096 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
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Respiratory insufficiency due to muscle weakness, Muscular dystrophy, Spinal rigidity, Centrally ... |
OMIM:617066 |
Merrf |
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Generalized myoclonic seizure, Ataxia, Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy, Short stature, Failure to thrive, Progressive muscle weakness, Rimmed ... |
OMIM:619518 |
Spinal Muscular Atrophy, Type Iii |
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Proximal muscle weakness, Skeletal muscle atrophy, Muscle weakness, Spinal muscular atrophy, Dege... |
OMIM:253400 |
Spinal Muscular Atrophy, Type Iv |
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Proximal amyotrophy, Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal muscl... |
OMIM:271150 |
Myopathy With Giant Abnormal Mitochondria |
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Limb-girdle muscle atrophy, Proximal muscle weakness, Myopathy, Growth delay |
OMIM:255140 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
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Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
Welander Distal Myopathy |
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Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
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Dilated cardiomyopathy, Gowers sign, Myopathy, Proximal muscle weakness, Rimmed vacuoles, Muscle ... |
OMIM:612937 |
Myopathy And Diabetes Mellitus |
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Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... |
ORPHA:2596 |
Nemaline Myopathy 1 |
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Proximal muscle weakness, Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnorma... |
OMIM:609284 |
Myopathy, Distal, 1 |
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Dilated cardiomyopathy, Toe extensor amyotrophy, Proximal muscle weakness, Ragged-red muscle fibe... |
OMIM:160500 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
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Dilated cardiomyopathy, Myopathy, Short stature, Respiratory insufficiency due to muscle weakness... |
OMIM:300580 |
Myopathy, Spheroid Body |
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Proximal amyotrophy, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Neck flexor wea... |
OMIM:182920 |
Rigid Spine Syndrome |
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Poor head control, Myopathy, Gowers sign, Skeletal muscle atrophy, Hip contracture, Hamstring con... |
ORPHA:97244 |
Autosomal Recessive Centronuclear Myopathy |
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Gowers sign, Hip contracture, Talipes equinovarus, Facial diplegia, Progressive muscle weakness, ... |
ORPHA:169186 |
Epilepsy, Familial Temporal Lobe, 1 |
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Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
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Decreased activity of mitochondrial complex IV, Muscle weakness, Increased intramyocellular lipid... |
OMIM:619062 |
Myasthenic Syndrome, Congenital, 5 |
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Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory i... |
OMIM:603034 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
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Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy |
OMIM:609500 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Skeletal muscle atrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, ... |
OMIM:105550 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
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Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Abnormal lower m... |
OMIM:602099 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
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Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuo... |
OMIM:616924 |
Zebra Body Myopathy |
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Gowers sign, Proximal muscle weakness, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopa... |
ORPHA:97240 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
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Osteoporosis, Contractures of the large joints, Bilateral tonic-clonic seizure |
OMIM:608278 |
Spinal Muscular Atrophy, Type Ii |
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Degeneration of anterior horn cells, Spinal muscular atrophy, Skeletal muscle atrophy, Muscle wea... |
OMIM:253550 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
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Proximal muscle weakness, Angulated muscle fibers, Weakness of facial musculature, Shoulder girdl... |
OMIM:619477 |
Myopathy, Myofibrillar, 2 |
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Hypertrophic cardiomyopathy, Autophagic vacuoles, Respiratory insufficiency due to muscle weaknes... |
OMIM:608810 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
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Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neu... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
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Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neu... |
OMIM:616437 |
Scapuloperoneal Myopathy, Myh7-Related |
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Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature |
OMIM:181430 |
Childhood-Onset Nemaline Myopathy |
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Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Fatigable weakness of ... |
ORPHA:171439 |
Myopathy, Myofibrillar, 8 |
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Central core regions in muscle fibers, Gowers sign, Proximal muscle weakness, Limb muscle weaknes... |
OMIM:617258 |
Spinal Muscular Atrophy, X-Linked 2 |
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Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Arthrogryposis multiple... |
OMIM:301830 |
Amyotrophic Lateral Sclerosis 20 |
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Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
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Limb muscle weakness, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neuron... |
OMIM:614373 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
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Proximal muscle weakness, Skeletal muscle atrophy, Rimmed vacuoles, Hyperlordosis, Calf muscle hy... |
OMIM:617760 |
Neuropathy, Hereditary Motor, With Myopathic Features |
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Proximal muscle weakness in lower limbs, Paresthesia, EMG: myopathic abnormalities, Proximal musc... |
OMIM:619216 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Gowers sign, Myopathy, Progressive external ophthalmoplegia, Slender build, Decreased mitochondri... |
ORPHA:352470 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis |
OMIM:618323 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
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Gowers sign, Proximal muscle weakness, Progressive distal muscular atrophy, Respiratory insuffici... |
OMIM:159950 |
Oculopharyngeal Muscular Dystrophy |
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Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Spondyloli... |
ORPHA:270 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
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Seizure, Proximal muscle weakness, Myopathy, Ataxia |
OMIM:551500 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Gowers sign, Myopathy, Ragged-red muscle fibers, Proximal muscle weakness, Poor head control, Mus... |
ORPHA:353327 |
Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions, Proximal muscle weakness, Scoliosis, Fatigable weakness |
OMIM:614750 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
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Distal muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Muscle weakness |
OMIM:614807 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
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Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Muscle weakne... |
OMIM:615422 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Neck flexor weakness, Respirato... |
ORPHA:171442 |
Pontocerebellar Hypoplasia, Type 1A |
|
Congenital contracture, Basal ganglia gliosis, Muscle weakness, Spinal muscular atrophy, Degenera... |
OMIM:607596 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Increased variability... |
OMIM:300717 |
Central Core Disease |
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Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Mitral valve prol... |
ORPHA:597 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Amyotrophic Lateral Sclerosis 9 |
|
Distal muscle weakness, Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
Moderate Multiminicore Disease With Hand Involvement |
|
Talipes equinovarus, Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Ax... |
ORPHA:178145 |
Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Calf muscle hypoplasi... |
ORPHA:488650 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Gowers sign, Neck flexor weakness, Internally nucleated ... |
OMIM:618138 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Limb mu... |
OMIM:609286 |
Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content |
OMIM:612932 |
Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Poor head control, Minicore myopathy, Short stat... |
OMIM:602771 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Progressive external ophthalmop... |
ORPHA:663 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Proximal muscle weakness, Myopathy, Cardiomyopathy, Scoliosis, Fatty replacement of skeletal muscle |
OMIM:255100 |
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
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Myopathy, Facial palsy, Lumbar hyperlordosis, Short stature |
OMIM:253320 |
Neutral Lipid Storage Disease With Myopathy |
|
Gowers sign, Myopathy, Increased muscle lipid content, Proximal muscle weakness, Short stature, C... |
OMIM:610717 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Foot dorsif... |
OMIM:617087 |
Isolated Glycerol Kinase Deficiency |
|
Seizure, Myopathy, Osteoporosis |
ORPHA:408 |
Proximal Myopathy With Extrapyramidal Signs |
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Central core regions in muscle fibers, Proximal muscle weakness, Chorea, Ataxia, Ophthalmoplegia,... |
ORPHA:401768 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Skeletal muscle atrophy, Amyotrophic lateral sc... |
OMIM:105400 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Myopathy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Weakness of facial muscu... |
ORPHA:254875 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal muscle weakness, Distal amyotrophy |
OMIM:606768 |
Nemaline Myopathy 3 |
|
Dilated cardiomyopathy, Proximal muscle weakness, Neck flexor weakness, Limb muscle weakness, Res... |
OMIM:161800 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Talipes equinovarus, Arthrogryposis multiplex congenita, Conge... |
OMIM:208100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, First dorsal interossei muscle weakness, Kyphoscoliosis, Intrinsic hand muscle ... |
OMIM:619574 |
Oculopharyngodistal Myopathy |
|
Fatigable weakness of bulbar muscles, Progressive external ophthalmoplegia, Weakness of facial mu... |
ORPHA:98897 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Neck flexor weakness, Diaphragmatic weak... |
OMIM:603689 |
Amyotrophic Lateral Sclerosis 18 |
|
Muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:614808 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Muscle weakness, Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619141 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Muscle weakness, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis,... |
OMIM:612069 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Generalized muscle w... |
ORPHA:34516 |
Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... |
ORPHA:610 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
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Nonprogressive muscular atrophy, Hip contracture, Talipes equinovarus, Proximal lower limb amyotr... |
OMIM:600175 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Failure to thrive, Nemaline bodies, Myopathy, Intrauterine growth retardation |
OMIM:618246 |
Myasthenic Syndrome, Congenital, 14 |
|
Gowers sign, Ragged-red muscle fibers, Fatigable weakness, Hyperlordosis, Flexion contracture, Sc... |
OMIM:616228 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:612577 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Bilateral tonic-clonic seizure, Myoclonus, Increased intramyocellular lipid droplets, Ataxia, Inc... |
OMIM:619065 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
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Proximal muscle weakness, Myopathy, Bilateral tonic-clonic seizure, Chorea, Muscle fiber atrophy,... |
ORPHA:369840 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Weakness of... |
OMIM:160565 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Gowers sign, Neck flexor weakness, Macroglossia, Right ventricular hypertrophy, Achilles tendon c... |
ORPHA:353 |
X-Linked Centronuclear Myopathy |
|
Fatigable weakness of bulbar muscles, Weakness of facial musculature, Type 1 fibers relatively sm... |
ORPHA:596 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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Proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability... |
OMIM:253601 |
Acetyl-Coa Carboxylase Deficiency |
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Myopathy, Growth delay |
OMIM:613933 |
Myopathy, Distal, 3 |
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Late-onset proximal muscle weakness, Joint contracture of the hand, EMG: myopathic abnormalities,... |
OMIM:610099 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
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Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Decreased activity of mitocho... |
ORPHA:254864 |
Nemaline Myopathy 4 |
|
Gowers sign, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Flex... |
OMIM:609285 |
Myopathic Ehlers-Danlos Syndrome |
|
Talipes equinovarus, Joint contracture of the hand, Generalized muscle weakness, Elbow flexion co... |
ORPHA:536516 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers |
OMIM:619024 |
Monomelic Amyotrophy |
|
Muscle weakness, Distal upper limb amyotrophy, Degeneration of anterior horn cells |
ORPHA:65684 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Lower limb muscle weakness, Skeletal muscle atrophy, Scoliosis, Kyphosis |
OMIM:611225 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy, Scoliosis, Proportionate short stature |
ORPHA:50817 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Progressive external ophthalmoplegia,... |
ORPHA:352447 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Muscle weakness, Myopathy |
OMIM:616314 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Proximal amyotrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608030 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Progressive external ophthalmoplegia, External ophthalmoplegia, Failure to thrive, Faci... |
OMIM:201470 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... |
ORPHA:276435 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Diaphragmatic paralysis, Intrauterine growth retardation, Talipes equinovarus, Limb muscle weakne... |
OMIM:604320 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Facial palsy, Abnormal lower motor neuron morphology, Distal amyotrophy, Di... |
OMIM:607641 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Muscular dystrophy, Spinal rigidity, Muscle weakness, Increased endomy... |
OMIM:617072 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Proximal muscle weakness, Scapuloperoneal amyotrophy, Talipes equinovarus, Respiratory insufficie... |
OMIM:611067 |
Typical Nemaline Myopathy |
|
Genu varum, Axial muscle weakness, Arthrogryposis multiplex congenita, Kyphosis, Hip dislocation,... |
ORPHA:171436 |
Desminopathy |
|
Fatigable weakness of bulbar muscles, Neck flexor weakness, Weakness of facial musculature, Progr... |
ORPHA:98909 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Seizure, Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Facial palsy, EMG: myopathic abno... |
OMIM:609283 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:22 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Poor head control, Myopathy, Cachexia, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, F... |
ORPHA:157973 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Gowers sign, Myopathy, Facial palsy, Congenital muscular dystrophy, Seizure, Muscular dystrophy, ... |
OMIM:602541 |
Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Weakness of long finger extensor muscles, Progressive distal muscle ... |
ORPHA:641 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Respiratory insuffic... |
ORPHA:600 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Gowers sign, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achill... |
ORPHA:254361 |
Glycogen Storage Disease Ixb |
|
Muscle weakness, Short stature, Increased muscle glycogen content |
OMIM:261750 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Myopathy, Genu varum, Arthralgia of the hip, Short stature, Fragmentation of the metacarpal epiph... |
ORPHA:166002 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Gowers sign, Reduced muscle fiber alpha dystroglycan, Limb-girdle musc... |
ORPHA:280333 |
Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Proximal muscle weakness, Degeneration of the lateral corticospinal tracts, Global brain atrophy,... |
ORPHA:275872 |
Spastic Ataxia 5, Autosomal Recessive |
|
Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Increased intramyo... |
OMIM:614487 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Proximal muscle weakness, Reduced muscle collagen VI, Talipes equinovarus, Torticollis, Failure t... |
OMIM:254090 |
Pseudoachondroplasia |
|
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... |
ORPHA:750 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Spasticity of facial muscles, Abnormal lower motor neuron morpholo... |
OMIM:205100 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Myopathy, Failure to thrive, Kyphosis, Scoliosis |
OMIM:618234 |
Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Shoulder girdle ... |
OMIM:606070 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Proximal amyotrophy, Proximal muscle weakness, Gliosis, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular muscle atrophy, Talipes equinovarus, Torticollis, Gowers sign, Progressive distal muscul... |
OMIM:181405 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory insufficiency due to mus... |
OMIM:605809 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Cerebellar atrophy, Facial diplegia, Achilles tendon contracture, Kyphoscoli... |
ORPHA:370980 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Hirsutism, Rocker bottom foot, Second metatarsal posteriorly placed, Failure to thrive, Kyphoscol... |
OMIM:214150 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Impaired... |
OMIM:157640 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Progressive muscle weakness, Anemia, Seizure, Ataxia, Pancytopenia |
OMIM:607426 |
Amyotrophic Lateral Sclerosis 8 |
|
Proximal muscle weakness, Skeletal muscle atrophy, Progressive muscle weakness, Neuronal loss in ... |
OMIM:608627 |
Pleoconial Myopathy With Salt Craving |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy |
OMIM:262900 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Gowers sign, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Respiratory insuffi... |
OMIM:609560 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Bilateral tonic-clonic seizure, Decreased muscle glycogen content |
OMIM:611556 |
Myopathy, Myofibrillar, 6 |
|
Hypertrophic cardiomyopathy, Diaphragmatic paralysis, Facial palsy, Generalized amyotrophy, EMG: ... |
OMIM:612954 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy, Decreased activity of mitochondrial respiratory chain |
OMIM:613076 |
Parastremmatic Dwarfism |
|
Genu valgum, Kyphosis, Severe short stature, Flexion contracture, Short neck, Scoliosis |
OMIM:168400 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
Duchenne Muscular Dystrophy |
|
Proximal muscle weakness, Skeletal muscle atrophy, Progressive muscle weakness, Calf muscle hyper... |
ORPHA:98896 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Ocular Myopathy With Curare Sensitivity |
|
Myopathy, Static ophthalmoparesis, Limb muscle weakness |
OMIM:257600 |
Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal mu... |
OMIM:254130 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Arthrogryposis multiplex congenita, Clinodactyly, Kyphosis, Axial muscle weakn... |
ORPHA:178148 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Gowers sign, Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed... |
OMIM:603511 |
Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Ophthalmoparesis, Facial palsy, Muscle weakness, Flexion contracture, Nema... |
OMIM:615348 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Corpus callosum atrophy, Cardiomyopathy |
OMIM:225740 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Contractures of the joints of the upper limbs, Proximal muscle weakness, Cachexia, Skeletal muscl... |
ORPHA:300605 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakne... |
OMIM:300816 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Congenital muscular dystrophy, ... |
OMIM:607855 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Poor head control, Myopathy, Skeletal muscle atrophy, Osteopenia, Muscle weakness |
ORPHA:300179 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98855 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, External ophthalmoplegia, Respiratory insufficiency due ... |
ORPHA:169189 |
Myopathy, Congenital, With Tremor |
|
Proximal muscle weakness, EMG: myopathic abnormalities, Spinal rigidity, Flexion contracture, Sca... |
OMIM:618524 |
Classic Multiminicore Myopathy |
|
Poor head control, Increased muscle lipid content, Mitral valve prolapse, Weakness of facial musc... |
ORPHA:324604 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Cerebellar atrophy, Abnormal mitochondrial morphology, Scoliosis, Upper... |
ORPHA:99013 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodac... |
OMIM:610140 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Myopathy, Generalized muscle weakness |
OMIM:616321 |
Episodic Ataxia, Type 9 |
|
Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Episo... |
OMIM:618924 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98853 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Proximal muscle weakness, Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external... |
OMIM:617070 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Generalized muscle weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Chorea, Ataxia, Bilateral tonic-clonic seizure |
OMIM:618425 |
Amyotrophic Lateral Sclerosis |
|
Fatigable weakness of bulbar muscles, Skeletal muscle atrophy, Motor neuron atrophy, Neurodegener... |
ORPHA:803 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Facial palsy, Abnormal cortical bone morphology |
ORPHA:3416 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Proximal muscle weakness, Absent muscle dystrophin expression, Abnormalit... |
ORPHA:206546 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Proximal muscle weakness, Myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalit... |
ORPHA:397744 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy, Kyphosis, Distichiasis, Scoliosis, Delayed puberty |
ORPHA:2598 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal skeletal muscle morphology, Internally nucleated skeletal muscle fibers, Axial muscle we... |
ORPHA:98905 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Myopathy, Short stature, Low posterior hairline, Cervical C2/C3 vertebral fusion, Cardiomyopathy,... |
OMIM:616549 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy, Proximal muscle weakness, Pelvic girdle muscle weakness, Reduced muscle f... |
ORPHA:34515 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Cerebellar at... |
ORPHA:254886 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... |
OMIM:618587 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Proximal muscle weakness, Skeletal muscle atrophy, Limb muscle weakness, Muscular dystrophy, Cent... |
OMIM:616812 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Talipes equinovarus, Rocker bott... |
OMIM:611890 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Impaire... |
OMIM:258450 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Short stature, Kyphosis, Short thumb, Cerebral atrophy, Clinodactyly of the 5th finger, Camptodac... |
OMIM:618453 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Myopathy, Respiratory insufficiency due to muscle weakness, Increased ... |
OMIM:616816 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps... |
ORPHA:98913 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Muscl... |
ORPHA:263494 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy |
OMIM:607091 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Gowers sign, Talipes equinovarus, Facial palsy, Cardiomyopathy, Scapular winging, Nemaline bodies |
OMIM:617336 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Axonal degeneration, ... |
OMIM:602433 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... |
ORPHA:306 |
Idiopathic Camptocormia |
|
Spinal canal stenosis, Abnormal intervertebral disk morphology, Myositis, Amyotrophic lateral scl... |
ORPHA:1320 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... |
OMIM:615400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Proximal muscle weakness, Cerebellar atrophy, Vertebral fusion, Macroglossia... |
OMIM:606612 |
Muscular Dystrophy, Congenital, Producing Arthrogryposis |
|
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy |
OMIM:253900 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Gowers sign, Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Facia... |
OMIM:608930 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hammertoe, Facial palsy, Nemaline bodies, Split hand, Flexion contracture, Distal amyotrophy, Hyp... |
OMIM:607684 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... |
OMIM:617831 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Talipes equinovarus, Hand clenching, Respiratory insufficiency due to mu... |
OMIM:618291 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Generalized limb muscle atrophy, Erythroid hyperplasia, Progressive muscle weakness, Pappenheimer... |
OMIM:600462 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Generalized amyotr... |
OMIM:613561 |
Hypophosphatasia, Childhood |
|
Seizure, Myopathy, Craniosynostosis |
OMIM:241510 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Myopathy, Hypertrichosis, Arthrogryposis multiplex congenita |
OMIM:201550 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Myopathy, Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture |
OMIM:616313 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Proximal muscle weakness, Myoclonus, Increased intramyocellular lipid droplets, Seizure, Ataxia |
OMIM:612016 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Decreased activity of mitochondrial complex IV, Muscle weakness, Ragged-red muscle fibers, Decrea... |
OMIM:616794 |
Isolated Focal Cortical Dysplasia |
|
Infantile spasms, Nocturnal seizures, Abnormal neuron morphology, Focal impaired awareness seizur... |
ORPHA:65683 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... |
OMIM:616461 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Facial palsy, Abnormal cortical bone morphology, Clavicular sclerosis... |
ORPHA:2790 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormaliti... |
OMIM:611307 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:611726 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Osteopenia, Atonic seizure, Gait at... |
OMIM:617810 |
Cap Myopathy |
|
Fatiguable weakness of proximal limb muscles, Gowers sign, Abnormal muscle fiber morphology, Poor... |
ORPHA:171881 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Short stature |
ORPHA:366 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Ataxia, Myopathy |
ORPHA:2579 |
Marinesco-Sjögren Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal muscle atrophy, Metatar... |
ORPHA:559 |
Continuous Spikes And Waves During Sleep |
|
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... |
ORPHA:725 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Abnormality of the mitochondrion, Failure to thrive |
ORPHA:91130 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Bilateral tonic-clonic seizure |
ORPHA:100988 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Mitochondrial respiratory chain defects |
ORPHA:104 |
Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Growth delay, Skeletal myopathy, Talipes equ... |
OMIM:302060 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Cerebellar atrophy, Gliosis, Cerebral atrophy |
OMIM:618369 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Abnormal mitochondria in muscle tissue, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ata... |
ORPHA:313772 |
Arts Syndrome |
|
Seizure, Progressive muscle weakness, Ataxia |
OMIM:301835 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Chorea, Seizure, Limb-girdle muscular dystrophy, Truncal ataxia, Progressive proximal m... |
ORPHA:369847 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizur... |
ORPHA:330050 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
Zimmermann-Laband Syndrome 3 |
|
Small nail, Hypertrichosis, Triphalangeal thumb, Low anterior hairline, Absent toenail, Absent di... |
OMIM:618658 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... |
OMIM:616056 |
Infantile Refsum Disease |
|
Seizure, Progressive muscle weakness, Facial palsy, Ataxia |
ORPHA:772 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myopathy, Decreased activity of mitochondrial complex III, Increased intramyocellular lipid dropl... |
OMIM:255125 |
Duchenne And Becker Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy, Slender long bone, Hyperlordosis,... |
ORPHA:262 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Myopathy, Failure to thrive, Endocardial fibroelastosis, Cardiomegal... |
OMIM:212140 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Myopathy, Gowers sign, Skeletal muscle atrophy, Flexion ... |
OMIM:310440 |
Ane Syndrome |
|
Motor neuron atrophy, Short stature, Kyphoscoliosis, Alopecia, Generalized amyotrophy, Multiple j... |
ORPHA:157954 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Gowers sign, Hypoglycosylation of alpha-dystroglycan, Muscular dystrop... |
OMIM:613818 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Myopathy, Ragged-red muscle fibers, Bilateral tonic-clonic seizure, Left ventricular hypertrophy,... |
OMIM:540000 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Proximal muscle weakness, Myopathy, Cerebellar atrophy, Skeletal muscle atrophy, Neurodegeneratio... |
OMIM:616239 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Myopathy, Intrauterine growth retardation, Failure to thrive, Kyphos... |
OMIM:618237 |
Hereditary Continuous Muscle Fiber Activity |
|
Seizure, Congenital diaphragmatic hernia, Ataxia, Type 1 muscle fiber predominance |
ORPHA:972 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:615127 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Muscle weakness, Myopathy, Growth delay |
OMIM:212350 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic... |
OMIM:245570 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Poor head control, Type 2 muscle fiber atrophy, Choreoathetosis, Gener... |
OMIM:617519 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy, Late-onset spinocerebellar degeneration |
OMIM:230450 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:618873 |
Glycogen Storage Disease Iii |
|
Myopathy, Short stature, Ventricular hypertrophy, Cardiomyopathy, Muscle weakness, Distal amyotrophy |
OMIM:232400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Gowers sign, Right ventricular dilatation, Skeletal muscle atrophy, Right ventricular hypertrophy... |
OMIM:253700 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Myopathy, Skeletal muscle hypertrophy, Short stature, Macroglossia, Muscle weakness |
ORPHA:2349 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... |
ORPHA:101046 |
Dk1-Cdg |
|
Infantile spasms, Bilateral tonic-clonic seizure, Progressive muscle weakness, Seizure, Focal-ons... |
ORPHA:91131 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:615369 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Neck flexor weakness, Increased mitochondrial number, Ventricular hypertro... |
ORPHA:263297 |
Familial Focal Epilepsy With Variable Foci |
|
Paresthesia, Bilateral tonic-clonic seizure, Nocturnal seizures, Infantile spasms, Deja vu aura, ... |
ORPHA:98820 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Hypertrichosis, Rocker bottom foot, Generalized amyotrophy, Arachnodactyly... |
OMIM:271225 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Gowers sign, Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Calf muscle hypertrophy, In... |
ORPHA:119 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Kyphoscoliosis, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle fibe... |
OMIM:616470 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Myopathy, Intrauterine growth retardation, Cardiomyopathy |
ORPHA:26792 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
Immune-Mediated Necrotizing Myopathy |
|
Fatiguable weakness of proximal limb muscles, Proximal muscle weakness in lower limbs, Myopathy, ... |
ORPHA:206569 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Mitochondrial hypertrophy, Fiber type grouping, Decreased activity of mitochondrial complex IV, D... |
OMIM:500013 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Myopathy, Generalized non-motor (absence) seizure |
OMIM:618242 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Proximal muscle weakness, Skeletal muscle atrophy, EMG: myopathic abnormalities, Muscular dystrop... |
OMIM:608807 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... |
OMIM:619317 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Facial palsy, Abnormal cortical bone m... |
ORPHA:3152 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:266100 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Myopathy, Seizure, Ataxia, Reticulocytosis, Rhabdomyolysis |
OMIM:300653 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Weakness of facial musculature, Failure to thrive, Respiratory insuffi... |
OMIM:619461 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Skeletal muscle hypertrophy, Decreased cervical spine mobility, Spinal deformities, Facial palsy,... |
ORPHA:370968 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Myoclonus, Anemia, Splenomegaly, Seizure, Clonic seizure, Status epilepticus, Bilateral tonic-clo... |
OMIM:610539 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Short stature, Hypoplastic acetabulae, Platyspondyly, Kyphosis, Diffuse ... |
OMIM:230650 |
Acquired Partial Lipodystrophy |
|
Seizure, Myopathy, Lymphocytosis |
ORPHA:79087 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Failure to thrive in infancy, Growth delay, External ophthalmoplegia, Long eyelashes, Increased v... |
OMIM:619026 |
Triosephosphate Isomerase Deficiency |
|
Myopathy, Skeletal muscle atrophy, Normocytic anemia, Progressive muscle weakness, Respiratory in... |
OMIM:615512 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... |
ORPHA:171433 |
Axial Osteomalacia |
|
Proximal muscle weakness, Myopathy, Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Small for gestational age, Flexion contracture, Conge... |
OMIM:615368 |
Carey-Fineman-Ziter Syndrome |
|
Myopathy, Skeletal muscle atrophy, Growth delay, Talipes equinovarus, Tapered finger, Failure to ... |
OMIM:254940 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Muscle wea... |
OMIM:616867 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Dysmetria, Osteoporosis, Osteopenia, Seizure, Status epilepticus,... |
ORPHA:529665 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:613721 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure, Choreoathetosis |
OMIM:104290 |
Spinal Muscular Atrophy, Segmental |
|
Segmental spinal muscular atrophy, Hand muscle atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
Greig Cephalopolysyndactyly Syndrome |
|
1-3 toe syndactyly, Broad hallux phalanx, Abnormal muscle fiber morphology, Hirsutism, Broad thum... |
OMIM:175700 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... |
OMIM:310300 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-o... |
OMIM:619301 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weak... |
OMIM:601419 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death |
OMIM:300219 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... |
ORPHA:329478 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter |
OMIM:125250 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Progressive muscle weakness, Skeletal muscle atrophy |
OMIM:252320 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Muscle weakness, Amyotrophic lateral sclerosis, Bulbar palsy |
OMIM:105500 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
OMIM:604403 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Sev... |
OMIM:156530 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Diffuse cerebellar atro... |
ORPHA:477774 |
Glycerol Kinase Deficiency |
|
Seizure, Muscular dystrophy, Myopathy, Osteoporosis |
OMIM:307030 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Anemia,... |
OMIM:619302 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
Anal Sphincter Myopathy, Internal |
|
Myopathy |
OMIM:105565 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Flexion contracture, Bilateral tonic-clonic se... |
OMIM:618856 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Bilateral tonic-clonic seizure, Splenomegaly |
ORPHA:139406 |
Salt And Pepper Developmental Regression Syndrome |
|
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Choreoathetosis |
OMIM:609056 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Myopathy, Intrauterine growth retardation, Hypoglycosylation of alpha-dys... |
ORPHA:272 |
Juvenile Primary Lateral Sclerosis |
|
Muscle weakness, Skeletal muscle atrophy, Abnormal upper motor neuron morphology |
ORPHA:247604 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Intrauterine growth retardation, Small for gestational age, Gliosis, Arthrogr... |
OMIM:615095 |
Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:616341 |
Sarcosinemia |
|
Ataxia, Peroneal muscle weakness, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Atonic seizure, Focal-onset seizure, Generalized myocl... |
ORPHA:2382 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Respiratory insufficiency ... |
ORPHA:2590 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Myopathy, Brain atrophy |
OMIM:618236 |
Landau-Kleffner Syndrome |
|
Non-convulsive status epilepticus without coma, Bilateral tonic-clonic seizure, Nocturnal seizure... |
ORPHA:98818 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
ORPHA:36387 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis, Flexio... |
OMIM:618393 |
Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:101039 |
Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis, Congenital contracture |
OMIM:225753 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure |
OMIM:611630 |
Systemic Primary Carnitine Deficiency |
|
Muscle weakness, Bilateral tonic-clonic seizure with focal onset, Neck muscle weakness |
ORPHA:158 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Decreased muscle mass, Gowers sign, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Respira... |
OMIM:608931 |
Synaptic Congenital Myasthenic Syndromes |
|
Proximal muscle weakness, Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle ... |
ORPHA:98915 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Limb-girdle muscular dyst... |
OMIM:616052 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Decreased activit... |
OMIM:615418 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Progressive external ophthalmoplegia, Limb muscle weakness, Progressive muscle weakness, Facial p... |
OMIM:610131 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Type 2 muscle fiber atrophy, Ophthalmoparesis, Fatigable weakness, Generalized muscle weakness, I... |
OMIM:601462 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Impaire... |
OMIM:607459 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Foot acroosteolysis, Abnormal cortical bone morphology, Reduced bone min... |
ORPHA:970 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Abnormality of neutrophils |
ORPHA:154 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:619191 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Ataxia, Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia |
ORPHA:33574 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle atrophy, Gliosis, Distal amyotrophy, Peroneal muscle weakness, Degeneration of an... |
OMIM:118301 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... |
OMIM:254770 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Growth delay, Skeletal myopathy, E... |
ORPHA:57 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617643 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:601068 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Limb muscle weakness, Cardiomyopathy, Fusion of midcervical facet joints, Cervical vertebral bodi... |
OMIM:606842 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Proximal muscle weakness, Skeletal muscle hypertrophy, Short stature, Macroglossia, Achilles tend... |
OMIM:608840 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Chorea, Focal emotional seizure with lau... |
ORPHA:178469 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Bilateral tonic-clonic seizure |
OMIM:269720 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Muscle weakness, Myopathy, Episodic flaccid weakness |
OMIM:170400 |
Machado-Joseph Disease Type 3 |
|
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Cerebellar atrophy, Degeneration o... |
ORPHA:276244 |
Kearns-Sayre Syndrome |
|
Progressive intervertebral space narrowing, Ragged-red muscle fibers, Skeletal muscle atrophy, Pr... |
ORPHA:480 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Distal muscle weakness, Skeletal muscle atrophy, Scoliosis, Kyphosis |
ORPHA:101078 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased activity of m... |
OMIM:614924 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Proximal muscle weakness, Amyotrophic lateral sclerosis, Bulbar palsy, Cerebral cortical atrophy |
OMIM:615911 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Proximal muscle weakness, EMG: myopathic abnormalities, Distal amyotrophy, Upper limb muscle weak... |
ORPHA:99939 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... |
ORPHA:139426 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal muscle weakness, Poor head control, Skeletal muscle atrophy, Abnormal heart morphology, ... |
ORPHA:26791 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:610003 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Progressive muscle weakness, Osteoporosis... |
ORPHA:79240 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:601217 |
Adrenomyodystrophy |
|
Seizure, Myopathy, Reduced bone mineral density |
ORPHA:977 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... |
OMIM:123320 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:254800 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, ... |
OMIM:254210 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Proximal amyotrophy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Reduced muscle fiber alp... |
ORPHA:206559 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Dysmetria, Myoclonus, Ataxia, Bilateral tonic-clonic seizure wi... |
OMIM:619028 |
Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epilepticus, Atonic... |
ORPHA:3006 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Short stature, Facial palsy, Ophthalmo... |
ORPHA:3068 |
Progressive Myoclonic Epilepsy Type 3 |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:263516 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... |
ORPHA:93314 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Muscle weakness, Myopathy, Rhabdomyolysis, Skeletal muscle atrophy |
OMIM:615511 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... |
ORPHA:79137 |
Brachyolmia Type 1, Hobaek Type |
|
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... |
OMIM:271530 |
Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Proximal muscle weakness, Poor head control, Skeletal muscle atrophy... |
ORPHA:3208 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Late-onset proximal muscle weakness, Increased intramyocellular... |
ORPHA:681 |
Osteomesopyknosis |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Peroxisome Biogenesis Disorder 11B |
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Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
Cortical Malformations, Occipital |
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Bilateral tonic-clonic seizure |
OMIM:614115 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness |
OMIM:619133 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
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Proximal muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Seizure, M... |
OMIM:615352 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Distal arthrogryposis, Myopathy, Febrile seizure (within the age range of 3 months to 6 years), S... |
ORPHA:42 |
Arthrogryposis Multiplex Congenita 6 |
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Adducted thumb, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in musc... |
OMIM:619334 |
Congenital Fiber-Type Disproportion Myopathy |
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Ankle flexion contracture, Pelvic girdle muscle weakness, Fatigable weakness of bulbar muscles, P... |
ORPHA:2020 |
Epilepsy, Familial Adult Myoclonic, 3 |
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Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Skeletal muscle atrophy, Progressive muscle weakness, Increased sarcoplasmic glycogen, Osteoporos... |
ORPHA:264580 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
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Skeletal muscle atrophy, Muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Rhabdo... |
ORPHA:368 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
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Central nervous system degeneration, Proximal humeral metaphyseal irregularity, Wafer-thin platys... |
OMIM:602613 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
ORPHA:208441 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
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Muscle weakness, Amyotrophic lateral sclerosis |
OMIM:613435 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Proximal muscle weakness, Ragged-red muscle fibers, Impaired distal proprioception, Myoclonus, Op... |
ORPHA:70595 |
Unilateral Hemispheric Polymicrogyria |
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Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure, Gene... |
ORPHA:101071 |
Amyotrophic Lateral Sclerosis 19 |
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Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis |
OMIM:615515 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Ventricular septal defect, Intrauterine growth retardation, Small for gestational age, Cerebellar... |
ORPHA:79243 |
Mitochondrial Myopathy, Lethal, Infantile |
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Myopathy |
OMIM:551000 |
Spondylometaphyseal Dysplasia, X-Linked |
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Hip contracture, Tapered finger, Short finger, Platyspondyly, Knee flexion contracture, Kyphosis,... |
OMIM:313420 |
Bilateral Generalized Polymicrogyria |
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Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal emotional seizur... |
ORPHA:208447 |
Intellectual Developmental Disorder, X-Linked 1 |
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Seizure, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:309530 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
Myofibrillar Myopathy 10 |
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Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Kyphosis, Left... |
OMIM:619040 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
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Highly arched eyebrow, Restrictive partial external ophthalmoplegia, Congenital fibrosis of extra... |
OMIM:609384 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Skeletal muscle atrophy, Progressive muscle weakness, Increased sarcoplasmic glycogen, Splenomega... |
ORPHA:370 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Distal lower limb amyotrophy, Distal upper limb amyotrophy, Scoliosis, Kyphosis |
ORPHA:101075 |
Combined Oxidative Phosphorylation Defect Type 13 |
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Ankle flexion contracture, Mitochondrial respiratory chain defects, Poor head control, Type 2 mus... |
ORPHA:319514 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
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Bilateral tonic-clonic seizure |
OMIM:619639 |
Ghosal Hematodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |