| Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Handgrip myotonia, Myofibrillar... |
ORPHA:97240 |
| Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Rippling Muscle Disease 2 |
|
Muscle mounding, Elevated circulating creatine kinase concentration, Percussion-induced rapid rol... |
OMIM:606072 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia, Cold paresis, Percussion myotonia, Myotonia of the face, Abnormal bl... |
ORPHA:684 |
| Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic... |
OMIM:160800 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Percussio... |
ORPHA:34516 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Proximal muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakne... |
OMIM:616231 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Skeletal muscle atrophy, Myotonia, Hyperuricemia, Increased muscle glycogen content, Muscle weakness |
ORPHA:371 |
| Myotonia Congenita, Autosomal Recessive |
|
Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic runs, Muscle hyper... |
OMIM:255700 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy, Myotonia, Muscle weakness |
OMIM:254950 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir... |
OMIM:605820 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myotonia, Episodic flaccid weakness, Myopathy, Hypokalemia, Muscle weakness |
OMIM:170400 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Mildly elevated creatine k... |
OMIM:617030 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Distal muscle weakness |
OMIM:604454 |
| Myotonia, Potassium-Aggravated |
|
Handgrip myotonia, Skeletal muscle atrophy, Myotonia, Percussion myotonia, Elevated circulating c... |
OMIM:608390 |
| Brody Disease |
|
Myotonia, Percussion myotonia, Flexion contracture, Muscle weakness, Skeletal muscle hypertrophy |
OMIM:601003 |
| Paramyotonia Congenita |
|
Handgrip myotonia, Percussion myotonia, Paradoxical myotonia, Muscle weakness, Skeletal muscle hy... |
OMIM:168300 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... |
OMIM:618848 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding, Skeletal muscle hypertrophy |
OMIM:600332 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... |
OMIM:618940 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Elevated circulating creati... |
OMIM:164300 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia, Episodic flaccid weakness, Myotonia |
OMIM:613345 |
| Hyperkalemic Periodic Paralysis |
|
Episodic flaccid weakness, Hyperkalemia, Myotonia |
OMIM:170500 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva... |
OMIM:609115 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Neck muscle weakness, Limb muscle weakness, Ragged-red musc... |
OMIM:500002 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Proximal muscle weakness, Ele... |
OMIM:609524 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... |
ORPHA:457050 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Upper limb muscle weakness, Lower limb muscle weakness, Myotonia, Elevated circulating creatine k... |
ORPHA:209335 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb muscle weakness, Mildly elevated creatine kinase, Distal upper... |
ORPHA:603 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... |
OMIM:619477 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... |
OMIM:158600 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness |
OMIM:147421 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Fiber type grouping, Distal amyotrophy, Mildly elevated creatine kinase, Distal muscle weakness |
OMIM:614369 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circulating creatine ... |
OMIM:616209 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Distal Myopathy With Anterior Tibial Onset |
|
Finger flexor weakness, Abnormal circulating creatine kinase concentration, Intrinsic hand muscle... |
ORPHA:178400 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myotonia, Myopathy |
OMIM:158800 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... |
OMIM:610542 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Percussion myotonia, Knee flexion contractu... |
OMIM:619040 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Peroneal muscle atrophy, Handgrip myotonia, Myotonia, Camptodactyly of finger, Distal lower limb ... |
ORPHA:324442 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Elevated circulating cr... |
OMIM:609273 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance, Muscle weakness |
OMIM:616304 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... |
OMIM:613530 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... |
OMIM:620068 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Neck muscle weakness,... |
OMIM:160500 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... |
OMIM:254130 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... |
OMIM:618654 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... |
ORPHA:2593 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98855 |
| Acetazolamide-Responsive Myotonia |
|
Ophthalmoparesis, Myotonia, Ophthalmoplegia, Skeletal muscle hypertrophy |
ORPHA:99736 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Myotonia Permanens |
|
Ophthalmoparesis, Myotonia, Generalized muscle hypertrophy, Ophthalmoplegia, Muscle weakness, Ske... |
ORPHA:99735 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ... |
ORPHA:99734 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... |
OMIM:300717 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent... |
ORPHA:270 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98863 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... |
OMIM:617069 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98853 |
| Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:261 |
| Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... |
OMIM:608807 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Elevated... |
OMIM:609452 |
| Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
| Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... |
OMIM:614065 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... |
ORPHA:178145 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... |
OMIM:160150 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Decreased circulating carnitine concentration, Neck muscle weakness, Increased muscle lipid conte... |
OMIM:500009 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness |
OMIM:614750 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... |
OMIM:613204 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... |
ORPHA:280333 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... |
OMIM:619042 |
| Hyperkalemic Periodic Paralysis |
|
Ophthalmoparesis, Skeletal muscle atrophy, Myotonia, Episodic flaccid weakness, Myopathy, Elevate... |
ORPHA:682 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Elevated circulating cr... |
OMIM:611615 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Mildly elevated creatine kinase, Progressive dist... |
ORPHA:399086 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Elevated circu... |
OMIM:603511 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase ... |
OMIM:616052 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:620246 |
| Myotonic Dystrophy 2 |
|
Handgrip myotonia, Sternocleidomastoid amyotrophy, Myotonia, Weakness of facial musculature, Elev... |
OMIM:602668 |
| Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
OMIM:300559 |
| Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Mildly ele... |
OMIM:610099 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, T... |
OMIM:614807 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... |
OMIM:300696 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... |
OMIM:609283 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
|
Firm muscles, Myotonia, Skeletal muscle hypertrophy |
OMIM:255710 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... |
ORPHA:663 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Progressive distal muscle weakness, Multiple joint contractures, Abnormal musc... |
ORPHA:98911 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Progressive distal mu... |
ORPHA:399103 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... |
OMIM:300718 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Elev... |
OMIM:617070 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620138 |
| Congenital Myopathy 10B, Mild Variant |
|
Increased variability in muscle fiber diameter, Neck muscle weakness, Limb muscle weakness, Type ... |
OMIM:620249 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co... |
OMIM:616471 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Neck muscle weakness, Limb muscle weakness... |
OMIM:609285 |
| Myopathy, Tubular Aggregate, 2 |
|
Ankle flexion contracture, Neck muscle weakness, Foot dorsiflexor weakness, Hypocalcemia, Elevate... |
OMIM:615883 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... |
OMIM:609284 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... |
OMIM:160565 |
| Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Decreased muscle mass, Asymmetric limb muscle stiffness, Distal lower limb mus... |
ORPHA:3101 |
| Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Limb muscle weakness, Generalized muscle weakness... |
OMIM:256030 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness, Elevat... |
ORPHA:309169 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red m... |
ORPHA:353327 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Muscle weakness, Increased serum pyruvate, Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... |
ORPHA:34515 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:609500 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... |
OMIM:620542 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:618138 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Extremely elevated creatine kinase, Mildly elevated crea... |
ORPHA:171445 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253700 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... |
OMIM:620389 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakne... |
OMIM:300816 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Muscular dystrophy, Increased endomysial connective tissue, Elevated circulating creatine kinase ... |
OMIM:607855 |
| Laing Early-Onset Distal Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... |
ORPHA:59135 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... |
OMIM:167320 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... |
OMIM:600334 |
| Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Musc... |
ORPHA:263494 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... |
OMIM:613205 |
| Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne... |
OMIM:619790 |
| Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Episodic flaccid weakness, Respiratory paralysis, Increased intramyocellula... |
ORPHA:681 |
| Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
ORPHA:75840 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... |
OMIM:601462 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration... |
OMIM:613818 |
| Bethlem Muscular Dystrophy |
|
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... |
ORPHA:610 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| Episodic Ataxia, Type 2 |
|
Myotonia, Muscle weakness |
OMIM:108500 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... |
OMIM:615422 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
ORPHA:171442 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs... |
ORPHA:1878 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Ophthalmoparesis, Neck muscle weakness, Limb muscle weakness, Weakness of facial musculature, Gen... |
OMIM:608930 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... |
OMIM:618823 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... |
OMIM:608340 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
| Myasthenic Syndrome, Congenital, 5 |
|
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Type 1 muscle fiber predominance, ... |
OMIM:603034 |
| Idiopathic Camptocormia |
|
Myotonia, Fatigable weakness of skeletal muscles, Proximal spinal muscular atrophy, Abnormal musc... |
ORPHA:1320 |
| Congenital Myopathy 24 |
|
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... |
OMIM:617336 |
| Central Core Disease |
|
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... |
ORPHA:597 |
| Myotonic Dystrophy 1 |
|
Facial diplegia, Myotonia, Muscle weakness |
OMIM:160900 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... |
ORPHA:352479 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Nemaline bodies, Late-onset distal muscle weakness, Mildly elevated creatine kinase, Type 1 muscl... |
OMIM:161800 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Fatig... |
ORPHA:424107 |
| Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Elevated circulating creatine kinase co... |
OMIM:611588 |
| Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Camptodactyly of finger, Elevated circulating cre... |
OMIM:614399 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... |
OMIM:614302 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the shoulder girdle muscula... |
ORPHA:206546 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618992 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul... |
ORPHA:98913 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... |
ORPHA:98902 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
| Episodic Ataxia Type 1 |
|
Calf muscle hypertrophy, Myotonia |
ORPHA:37612 |
| Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Gowers sign, Proximal muscle weakness, Axial muscle w... |
OMIM:255200 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... |
ORPHA:98905 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Joint contracture of the hand, Skeletal muscle atrophy, Quadriceps muscle weakness, Shoulder flex... |
OMIM:255800 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... |
ORPHA:254864 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, H... |
OMIM:615959 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Quadriceps musc... |
OMIM:620285 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Elevated circulating creatine ki... |
OMIM:609560 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:613954 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Proximal muscle weakness... |
OMIM:255310 |
| Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Neck muscle weakness, Limb muscle we... |
OMIM:617258 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... |
OMIM:619024 |
| Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Ragged-red muscle fibers, Muscle weakness |
OMIM:616794 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... |
ORPHA:171439 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Hyperammonemia, Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Rha... |
OMIM:618416 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Ophthalmoparesis, Flexion contracture, Myotonia |
OMIM:615491 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Ophthalmoparesis, Skeletal muscle atrophy, Decreased muscle mass, Fatigable weakness, Type 2 musc... |
OMIM:608931 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... |
ORPHA:57 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Elevated circulating creati... |
OMIM:602541 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle... |
OMIM:605809 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:401768 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Distal amyotrophy, Abnormal circulating creatine kinase concentration,... |
OMIM:617519 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ... |
OMIM:619903 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Rimmed vacuoles, Necrotizing myopathy, Mildly elevated creatine kinase, Facial diplegia, Foot dor... |
ORPHA:329478 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mildly elevated creat... |
ORPHA:397744 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Increased ci... |
OMIM:613752 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Distal arth... |
OMIM:620011 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... |
OMIM:617114 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Elevated circulating creatine ... |
ORPHA:972 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Ophthalmoparesis, Fatigable weakness, Bulbar palsy, Type 2 muscle fiber atrophy, Respiratory insu... |
OMIM:254210 |
| Intermediate Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Gene... |
ORPHA:171433 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Fatiguable weakness o... |
ORPHA:171881 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinase concent... |
OMIM:123320 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, A... |
ORPHA:600 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia |
ORPHA:391307 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Facial hypotonia, Myotonia |
ORPHA:589821 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... |
OMIM:181405 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co... |
ORPHA:119 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... |
OMIM:620161 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Respiratory insufficiency due to m... |
OMIM:300580 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Percussion myotonia, Nemaline bodies, Elbow contracture |
OMIM:620275 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentr... |
ORPHA:369840 |
| Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Elevated circulating ... |
ORPHA:206569 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
External ophthalmoplegia, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, M... |
ORPHA:254886 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... |
OMIM:254090 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Elevated circulating cre... |
OMIM:151800 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... |
ORPHA:169186 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... |
ORPHA:596 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Ophthalmoparesis, Skeletal muscle atrophy, Lower limb muscle weakness, Ragged-red muscle fibers, ... |
OMIM:616479 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Muscle fiber atrophy, Intermittent episodes of respiratory insufficiency due ... |
ORPHA:324604 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... |
ORPHA:171436 |
| Steinert Myotonic Dystrophy |
|
Handgrip myotonia, Myotonia with warm-up phenomenon, Neck muscle weakness, Proximal muscle weakne... |
ORPHA:273 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous |
OMIM:193230 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Mildly elevated creatine... |
OMIM:258450 |
| Kearns-Sayre Syndrome |
|
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Hyperphosphatemia, Fatigable weakness of swallowing musc... |
ORPHA:99845 |
| Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... |
OMIM:615418 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Muscle weakness, Generalized musc... |
OMIM:613662 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Axial muscle weakness, Flexion contrac... |
ORPHA:178148 |
| Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Shoulder flexion contracture, Myotonia, Skeletal muscle hypertrophy, Hip... |
ORPHA:800 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Muscle fiber atrophy, Increased muscle lipid co... |
ORPHA:228302 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Muscle weakness, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Gene... |
OMIM:613561 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Left ventricular noncompaction, Ragged-red muscle fibers, Ophthalmoplegia, Increased intramyocell... |
OMIM:252011 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... |
ORPHA:52430 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... |
OMIM:619542 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... |
OMIM:310300 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ophthalmoparesis, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Increased serum... |
ORPHA:1349 |
| Stuve-Wiedemann Syndrome 1 |
|
Myotonia, Elbow flexion contracture, Knee flexion contracture, Contracture of the proximal interp... |
OMIM:601559 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concentration, Weakness ... |
ORPHA:352447 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ophthalmoparesis, Ragged-red muscle fibers |
OMIM:500003 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Progressive externa... |
OMIM:615084 |
| Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, E... |
OMIM:248800 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Facial hypotonia, Handgrip myotonia |
ORPHA:438216 |
| Neutral Lipid Storage Myopathy |
|
Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we... |
ORPHA:98908 |
| Oculopharyngodistal Myopathy 1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... |
OMIM:164310 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... |
OMIM:616470 |
| Spinocerebellar Ataxia 28 |
|
Ophthalmoparesis, Ragged-red muscle fibers, Lower limb hypertonia |
OMIM:610246 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ragged-red muscle fibers, Myopathy |
OMIM:618242 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Triceps weakness, Intrinsi... |
OMIM:619574 |
| Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype... |
ORPHA:99013 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Elevated c... |
OMIM:300257 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ophthalmoplegia, Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy |
OMIM:540000 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Generalized limb muscle atrophy, Ragged-red muscle ... |
OMIM:600462 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase... |
OMIM:616239 |
| Synaptic Congenital Myasthenic Syndromes |
|
Ophthalmoparesis, Skeletal muscle atrophy, Hand muscle weakness, Neck muscle weakness, Type 1 mus... |
ORPHA:98915 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exter... |
OMIM:607459 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Rhabdo... |
OMIM:255125 |
| Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Axial muscle weakness, Proximal muscle weakness, ... |
OMIM:616720 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Total ophthalmoplegia, L... |
OMIM:157640 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progressive external op... |
OMIM:609286 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Ophthalmoparesis, Fatigable weakness, Proximal amyotrophy, Type 2 muscle fiber atrophy, Mildly el... |
OMIM:159400 |
| Congenital Myasthenic Syndrome |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Neck muscle weakness... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Neck muscle weakness... |
ORPHA:98914 |
| Glycogen Storage Disease Xv |
|
Type 1 muscle fiber predominance, Muscle weakness, Scapular winging |
OMIM:613507 |
| Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Ragged-red muscle fibers, Muscle weakness, Hypocalcemia |
OMIM:606407 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... |
OMIM:616866 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
External ophthalmoplegia, Ophthalmoparesis, Decreased muscle mass, Foot dorsiflexor weakness, Rag... |
ORPHA:298 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Ophthalmoparesis, Abnormal muscle fiber morphology, Lower limb muscle weakn... |
ORPHA:79102 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R... |
ORPHA:300605 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Glycogen Storage Disease Vii |
|
Increased variability in muscle fiber diameter, Increased total bilirubin, Hyperuricemia, Elevate... |
OMIM:232800 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:620240 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Ophthalmoparesis, Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology |
ORPHA:3068 |
| Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Snakebite Envenomation |
|
Muscle fiber necrosis, Respiratory paralysis, Hyponatremia, Rhabdomyolysis |
ORPHA:449285 |
| Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Abnormal circulatin... |
ORPHA:206572 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Hypoplasia of the musculature, Weakness of muscles of respiration, Sho... |
ORPHA:2020 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Hyperbilirubinemia, Myopathy, Reduced haptoglobin... |
OMIM:611881 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Elevated... |
OMIM:615368 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Elevated circulating creatine kinase concentration, Wrist flexion contr... |
OMIM:618733 |
| Polymyositis |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Abnormal muscle fib... |
ORPHA:732 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Proximal amyotrophy, Muscle fiber splitting, Proximal muscle weakness |
OMIM:606408 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Ragged-red muscle fibers, Proxi... |
ORPHA:70595 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Myopathy, Hyperuricemia, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Calf mu... |
ORPHA:79083 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Progressive muscle weakness, Ragged-red muscl... |
OMIM:607426 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Optic atrophy |
OMIM:604121 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Myositis, Intercostal musc... |
ORPHA:258 |
| Kearns-Sayre Syndrome |
|
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Muscle weakness |
OMIM:530000 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Hypertriglyceridemia, Myopathy, Skeletal muscle hypert... |
ORPHA:2348 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
External ophthalmoplegia, Ophthalmoparesis, Quadriceps muscle weakness, Shoulder girdle muscle we... |
ORPHA:254892 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Poor head control, Ophthalmoplegia, Ragged-red muscle fibers, Elevated circulating alpha-fetoprot... |
OMIM:614924 |
| Native American Myopathy |
|
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... |
ORPHA:168572 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Ophthalmoparesis, Ragged-red muscle fibers, Hyperprolinemia, Hyperalaninemia, Muscle weakness |
OMIM:620451 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ophthalmoparesis, Elevated circulating deoxyuridine concentration, Distal amyotrophy, Ragged-red ... |
OMIM:603041 |
| Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle weakness, Decreased muscle mass, Elbow flexion contracture, Muscle fiber atrophy, Limb mus... |
ORPHA:1900 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Optic atrophy |
ORPHA:314404 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Elevated circula... |
OMIM:613154 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Hyperlipidemia, Increased muscle... |
ORPHA:565612 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Increased intramyocellular lipid droplets, Hyp... |
OMIM:252010 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ophthalmoparesis, Ragged-red muscle fibers, Low plasma citrulline, Hyperalaninemia, Muscle weakness |
ORPHA:255210 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Ragged-red muscle fibers... |
ORPHA:17 |
| Melas |
|
Ragged-red muscle fibers, Myopathy, Progressive external ophthalmoplegia, Muscle weakness, Abnorm... |
ORPHA:550 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Muscle weakness, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:124000 |
| Choreoacanthocytosis |
|
Peroneal muscle atrophy, Distal amyotrophy, Muscle fiber atrophy, Myopathy, Elevated circulating ... |
ORPHA:2388 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy |
ORPHA:293987 |
| Niemann-Pick Disease Type C |
|
Narcolepsy |
ORPHA:646 |
| African Trypanosomiasis |
|
Narcolepsy, Optic neuritis, Papilledema |
ORPHA:3385 |
| Singleton-Merten Syndrome 1 |
|
Tendon rupture, Muscle fiber atrophy, Muscle weakness |
OMIM:182250 |
