Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Proximal muscle weakness, Gait disturbance, Z-band streaming, Autophagic vacuoles, Internally nuc... |
OMIM:618655 |
Nonaka Myopathy |
|
Gait disturbance, EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-... |
OMIM:605820 |
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 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Steppage ... |
OMIM:617158 |
Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Proximal muscle weakness, Gait disturbance, Muscle fiber hypertrophy, Skele... |
ORPHA:178464 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness, Falls, Muscle fiber necrosis, ... |
OMIM:618848 |
Welander Distal Myopathy |
|
Steppage gait, Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... |
ORPHA:602 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Type II diabetes mellitu... |
OMIM:500002 |
Distal Myopathy, Welander Type |
|
Myopathy, Steppage gait, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuo... |
ORPHA:603 |
Inclusion Body Myositis |
|
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal mu... |
ORPHA:611 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Weakness... |
ORPHA:457050 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Progressive distal muscle weakness, Autophagic vacuoles, Facial diplegia, Respiratory insufficien... |
ORPHA:399058 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness... |
ORPHA:266 |
Myopathy, Myofibrillar, 5 |
|
Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Waddling gait, Muscle fibe... |
OMIM:609524 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Shoulder girdle muscle atrophy,... |
OMIM:254110 |
Zebra Body Myopathy |
|
Gowers sign, Proximal muscle weakness, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopa... |
ORPHA:97240 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, External ophthalmoplegia, EMG: myopathic abnormalities, Rimmed va... |
OMIM:618940 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Gowers sign, Fasting hypoglycemia, Growth delay, Short s... |
ORPHA:171706 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Gowers sign, Myopathy, Proximal muscle weakness, Rimmed vacuoles, Muscle weakness, Waddling gait,... |
OMIM:612937 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Proximal muscle weakness, Angulated muscle fibers, Weakness of facial musculature, Shoulder girdl... |
OMIM:619477 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Short stature, Muscle weakness, Increased variability in muscle fiber diameter, ... |
OMIM:619042 |
Nemaline Myopathy 6 |
|
Gait disturbance, Myopathy, Neck flexor weakness, Limb muscle weakness, Nemaline bodies |
OMIM:609273 |
Inclusion Body Myositis |
|
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Nemaline Myopathy 7 |
|
Gowers sign, Gait disturbance, Minicore myopathy, Myofibrillar myopathy, Respiratory insufficienc... |
OMIM:610687 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Gait disturbance, Fa... |
OMIM:160500 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Generalized muscle w... |
ORPHA:34516 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Gait disturbance, Scapular winging, Abdo... |
OMIM:618129 |
Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Tip-toe gait, Distal amyotro... |
OMIM:254130 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Gowers sign, Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed... |
OMIM:603511 |
Nemaline Myopathy 2 |
|
Generalized muscle weakness, Late-onset distal muscle weakness, Calf muscle pseudohypertrophy, Pr... |
OMIM:256030 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Steppage gait, EMG: m... |
ORPHA:399086 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Gowers sign, Reduced muscle fiber alpha dystroglycan, Waddling gait, L... |
ORPHA:280333 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Proximal muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Facial pals... |
OMIM:609456 |
Myopathy, Myofibrillar, 3 |
|
Proximal muscle weakness, Progressive distal muscle weakness, Muscle fiber cytoplasmatic inclusio... |
OMIM:609200 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Proximal muscle weakness, Myopathy, Generalized muscle weakness, Neck muscle weakness, Waddling g... |
OMIM:605637 |
Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Waddling gait, Increased var... |
ORPHA:1878 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Genera... |
OMIM:608358 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Proximal muscle weakness, Weakness of facial musculature, Internally nucleated skeletal muscle fi... |
OMIM:618654 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Proximal muscle weakness, Skeletal muscle atrophy, Rimmed vacuoles, Waddling gait, Calf muscle hy... |
OMIM:617760 |
Myopathy, Myofibrillar, 2 |
|
Autophagic vacuoles, Respiratory insufficiency due to muscle weakness, Late-onset proximal muscle... |
OMIM:608810 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Neck flexor weakness, Diaphragmatic weak... |
OMIM:603689 |
Nemaline Myopathy 4 |
|
Gowers sign, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Waddling gait, Diffi... |
OMIM:609285 |
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 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Gait disturbance, Ragged-red muscle fibers, EMG: myopath... |
ORPHA:276435 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Proximal muscle weakness, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal mor... |
OMIM:615424 |
Myopathy, Distal, 3 |
|
Steppage gait, Late-onset proximal muscle weakness, Joint contracture of the hand, EMG: myopathic... |
OMIM:610099 |
Tubular Aggregate Myopathy |
|
Fatiguable weakness of proximal limb muscles, Type 2 muscle fiber atrophy, Muscle fiber tubular i... |
ORPHA:2593 |
Distal Myotilinopathy |
|
Progressive distal muscle weakness, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities,... |
ORPHA:98911 |
Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... |
ORPHA:178145 |
Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content |
OMIM:612932 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypoglycemia, Short stature |
ORPHA:366 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... |
OMIM:608423 |
Adult-Onset Nemaline Myopathy |
|
Myopathy, Increased muscle lipid content, Neck flexor weakness, Respiratory insufficiency due to ... |
ORPHA:171442 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Gowers sign, Neck flexor weakness, Macroglossia, Right ventricular hypertrophy, Achilles tendon c... |
ORPHA:353 |
Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions, Proximal muscle weakness, Fatigable weakness |
OMIM:614750 |
Vacuolar Neuromyopathy |
|
Neck flexor weakness, Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centr... |
OMIM:601846 |
Polyendocrine-Polyneuropathy Syndrome |
|
Dystonia, Hypoglycemia, Short stature, Ataxia, Postnatal growth retardation |
OMIM:616113 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Muscle weakness, Increased intramyocellular lipid droplets, Weakness of facial musculature |
OMIM:619062 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Muscle weakness, Increased vari... |
OMIM:613204 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuo... |
OMIM:616924 |
Myasthenic Syndrome, Congenital, 14 |
|
Gowers sign, Ragged-red muscle fibers, Fatigable weakness, Waddling gait, Flexion contracture, Sc... |
OMIM:616228 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Proximal muscle weakness, Rimmed vacuoles, Scapuloperoneal weakness, Flexion contracture, Scapula... |
OMIM:300696 |
Glycogen Storage Disease Ixb |
|
Muscle weakness, Short stature, Increased muscle glycogen content |
OMIM:261750 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Neck flexor weakness, Wrist drop, Progressive muscle weakness, Achilles ... |
OMIM:616852 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Gowers sign, Neck flexor weakness, Internally nucleated ... |
OMIM:618138 |
Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Calf muscle hypoplasi... |
ORPHA:488650 |
Neutral Lipid Storage Disease With Myopathy |
|
Gowers sign, Myopathy, Increased muscle lipid content, Proximal muscle weakness, Short stature, D... |
OMIM:610717 |
Distal Myopathy With Anterior Tibial Onset |
|
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... |
ORPHA:178400 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Facial palsy, EMG: myopathic abno... |
OMIM:609283 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability... |
OMIM:253601 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Myopathy, Ragged-red muscle fibers, Proximal muscle weakness, Poor head control, Mus... |
ORPHA:353327 |
Myopathy, Spheroid Body |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Neck flexor wea... |
OMIM:182920 |
Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
Bethlem Myopathy 2 |
|
Proximal muscle weakness, Myopathy, Muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:616471 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Gowers sign, Myopathy, Proximal muscle weakness, Triceps weakness, Generalized amyotrophy, Left v... |
ORPHA:86812 |
Merrf |
|
Ataxia, Myopathy, Ragged-red muscle fibers, Short stature |
ORPHA:551 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Muscular dystrophy, Muscle weakness, Increased endomysial connective t... |
OMIM:617072 |
Myofibrillar Myopathy 11 |
|
Gowers sign, Proximal muscle weakness, Z-band streaming, Generalized amyotrophy, Shoulder girdle ... |
OMIM:619178 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Difficulty walking |
OMIM:500003 |
Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... |
ORPHA:610 |
Tibial Muscular Dystrophy, Tardive |
|
Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Ophthalmop... |
ORPHA:270 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Muscle weakness, Myopathy, Ragged-red muscle fibers, Ataxia |
OMIM:545000 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Proximal muscle weakness, Myopathy, Gait disturbance, Minicore myopathy, Respiratory insufficienc... |
ORPHA:424107 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Gowers sign, Hypoglycosylation of alpha-dystroglycan, Muscular dystrop... |
OMIM:613818 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder g... |
ORPHA:34515 |
Nemaline Myopathy 1 |
|
Proximal muscle weakness, Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnorma... |
OMIM:609284 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Hypoglycemia, Severe postnatal growth retardation, Short stature |
OMIM:262700 |
Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Fatigable weakness of ... |
ORPHA:171439 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Proximal muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Muscle weakness, Ca... |
OMIM:613530 |
Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Growth delay, Short stature, Delayed puberty |
ORPHA:314802 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Gowers sign, Facial palsy, Waddling gait, Scapular winging, Nemaline bodies |
OMIM:617336 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Gowers sign, Myopathy, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Inc... |
ORPHA:119 |
Laing Early-Onset Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... |
ORPHA:59135 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... |
ORPHA:293964 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Gait imbalance, Short stature, Muscle weakness, Rhabdomyolysis, Lethargy |
OMIM:618120 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Myopathy, Gait disturbance, Dystonia, Li... |
OMIM:167320 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Gowers sign, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Respiratory insuffi... |
OMIM:609560 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Weakness of... |
OMIM:160565 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Shoulder girdle muscle atrophy, Gait disturbance, Shoulder girdle muscle weakness, Increased endo... |
ORPHA:437572 |
Myopathy, Centronuclear, 2 |
|
Gowers sign, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Generali... |
OMIM:255200 |
Myopathy, Myofibrillar, 4 |
|
Progressive distal muscle weakness, Autophagic vacuoles, Progressive muscle weakness, EMG: myopat... |
OMIM:609452 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Hypoglycemia, Severe short stature |
OMIM:223500 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Short stature, Respiratory insufficiency due to muscle weakness, Facial palsy, Type 1 f... |
OMIM:300580 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Growth delay, Short stature, Delayed puberty |
ORPHA:314811 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness, Skeletal muscle hypertrophy, External ophthalmoplegia, Facial palsy, EM... |
OMIM:160150 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Muscle we... |
OMIM:613954 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Pituitary dwarfism, Hypoglycemia, Severe short stature |
OMIM:262400 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Progressive external ophthalmop... |
ORPHA:663 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Proximal muscle weakness, Absent muscle dystrophin expression, Abnormality of the shoulder girdle... |
ORPHA:206546 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Diaphragmatic weakness, Generalized amyotrophy, EM... |
ORPHA:75840 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Late-onset proximal muscle weakness, Increased intramyocellular... |
ORPHA:681 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Short stature, Increased intramyocellular lipid droplets, Ataxia, Increased variability... |
OMIM:619065 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Proximal muscle weakness, Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external... |
OMIM:617070 |
Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Proximal muscle weakness, Dystonia, Ataxia, Ophthalmoplegi... |
ORPHA:401768 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Respiratory insufficiency due to muscle weakness, Congenital muscular dystrophy, Muscle weakness,... |
OMIM:607855 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Increased variability... |
OMIM:300718 |
Nemaline Myopathy 3 |
|
Proximal muscle weakness, Neck flexor weakness, Limb muscle weakness, Respiratory insufficiency d... |
OMIM:161800 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Muscle weakness, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Skel... |
OMIM:300816 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Dpm3-Cdg |
|
Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Muscle weakness, Calf muscle ... |
ORPHA:263494 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Gowers sign, Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Facia... |
OMIM:608930 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Steppag... |
OMIM:258450 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Proximal muscle weakness, Minicore myopathy, Z-band streaming, Fatty replacement of skeletal musc... |
OMIM:618823 |
Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Poor head control, Minicore myopathy, Short stat... |
OMIM:602771 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal skeletal muscle morphology, Internally nucleated skeletal muscle fibers, Axial muscle we... |
ORPHA:98905 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Proximal muscle weakness, Minicore myopathy, Ske... |
OMIM:255320 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... |
ORPHA:370980 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Limb-girdle muscular dyst... |
OMIM:616052 |
Hypoglycemia, Leucine-Induced |
|
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Steppage gait, Facial palsy, Nemaline bodies, Flexion contracture, Distal amyotrophy, Hypotrophy ... |
OMIM:607684 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Spastic gait, Ataxia, Type 1 muscle fiber predominance |
ORPHA:972 |
Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, P... |
OMIM:605355 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Loss of ambulatio... |
ORPHA:352479 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory i... |
OMIM:603034 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
Glycogen Storage Disease Iii |
|
Myopathy, Hypoglycemia, Short stature, Muscle weakness, Distal amyotrophy |
OMIM:232400 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Proximal muscle weakness, Myopathy, Progressive distal muscle weakness, Mitochondrial swelling, E... |
ORPHA:397744 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Short stature, Increa... |
OMIM:252011 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Generalized muscle weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Proximal muscle weakness, Myopathy, Muscle fiber atrophy, Muscular dystrophy, Waddling gait, Limb... |
ORPHA:369840 |
Carnitine Deficiency, Systemic Primary |
|
Myopathy, Hypoglycemia, Recurrent hypoglycemia, Reduced muscle carnitine level, Muscle weakness, ... |
OMIM:212140 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Short stature, Neonatal hypoglycemia, Diastasis recti, Postnatal growth retardation |
ORPHA:231140 |
X-Linked Centronuclear Myopathy |
|
Fatigable weakness of bulbar muscles, Weakness of facial musculature, Type 1 fibers relatively sm... |
ORPHA:596 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Type 2 muscle fiber atrophy, Ophthalmoparesis, Fatigable weakness, Generalized muscle weakness, I... |
OMIM:601462 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... |
ORPHA:171433 |
Amish Nemaline Myopathy |
|
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Progressive muscle weakness, ... |
ORPHA:98902 |
Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Muscle weakness, Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Poor head control, Minicore myopathy, Limb muscle weakness, Respirat... |
ORPHA:486815 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Proximal muscle weakness, Limb joint contracture, Respiratory insufficiency due to muscle weaknes... |
OMIM:255310 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle atrophy, Gowers sign, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Progre... |
OMIM:181405 |
Typical Nemaline Myopathy |
|
Fatiguable weakness of proximal limb muscles, Gait disturbance, Myopathy, Neck flexor weakness, F... |
ORPHA:171436 |
Cap Myopathy |
|
Fatiguable weakness of proximal limb muscles, Gowers sign, Abnormal muscle fiber morphology, Poor... |
ORPHA:171881 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Muscle weakne... |
OMIM:615422 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Myopathy, Intrauterine growth retardation, Ketotic hypoglycemia, Lethargy |
ORPHA:26792 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Inabili... |
ORPHA:206559 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Neck flexor we... |
ORPHA:98913 |
Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Ophthalmoparesis, Facial palsy, Muscle weakness, Flexion contracture, Nema... |
OMIM:615348 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Intrauterine growth retardation, Short stature, Dysmetria, Acute rhabdomyolysis, At... |
ORPHA:48431 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Myopathy, Ataxia, Ophthalmoplegia, Increased variability in muscle fiber diameter |
OMIM:125250 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Proximal muscle weakness, Skeletal muscle atrophy, Limb muscle weakness, Loss of ability to walk,... |
OMIM:616812 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
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 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Respiratory insuffic... |
ORPHA:600 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Muscle weakness |
OMIM:614807 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter |
OMIM:618992 |
Salih Myopathy |
|
Myopathy, Facial palsy, Generalized muscle weakness, Calf muscle hypertrophy, Flexion contracture... |
OMIM:611705 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Proximal muscle weakness, Increased intramyocellular lipid droplets, Ataxia |
OMIM:612016 |
Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Respiratory insuf... |
ORPHA:597 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, External opht... |
ORPHA:254886 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory insufficiency due to mus... |
OMIM:605809 |
Glycogen Storage Disease Vi |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:232700 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Muscle weakness... |
ORPHA:254864 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Inability to walk, Ataxia, Muscle we... |
OMIM:615350 |
Autosomal Recessive Centronuclear Myopathy |
|
Gowers sign, Hip contracture, Facial diplegia, Progressive muscle weakness, Generalized amyotroph... |
ORPHA:169186 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, ... |
OMIM:254210 |
Kearns-Sayre Syndrome |
|
Ataxia, Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia |
ORPHA:480 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
Glycerol Kinase Deficiency |
|
Myopathy, Hypoglycemia, Growth delay, Short stature, Muscular dystrophy, Lethargy |
OMIM:307030 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Scapuloperoneal weakness, Centrally nuc... |
OMIM:255160 |
Classic Multiminicore Myopathy |
|
Poor head control, Increased muscle lipid content, Weakness of facial musculature, Short stature,... |
ORPHA:324604 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Generalized muscle... |
ORPHA:276608 |
Mehmo Syndrome |
|
Hypoglycemia, Birth length less than 3rd percentile, Delayed puberty, Inability to walk, Gait ata... |
OMIM:300148 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the... |
ORPHA:324575 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Growth delay |
OMIM:306000 |
3-Methylglutaconic Aciduria Type 1 |
|
Progressive cerebellar ataxia, Dystonia, Hypoglycemia |
ORPHA:67046 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Short stature, Progressive muscle weakness, Rimmed vacuoles, Skeletal ... |
OMIM:619518 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Muscle weakness, Ragged-red muscle fibers |
OMIM:616794 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Poor head control, Type 2 muscle fiber atrophy, Generalized amyotrophy... |
OMIM:617519 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... |
ORPHA:329478 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia |
OMIM:240900 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Proximal muscle weakness, Short stature, Generalized amyotrophy, EMG: myopathic abnormalities, Ri... |
ORPHA:52430 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Respiratory insufficiency due to ... |
OMIM:617066 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Generalized amyotrophy, Lethargy |
OMIM:610006 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Gowers sign, Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle f... |
OMIM:253700 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Hypoglycemia |
OMIM:610090 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Spastic gait, Attention deficit hyperactivity disorder, Abnormal mitoch... |
ORPHA:99013 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Hyperinsulinemic hypoglycemia,... |
ORPHA:276580 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... |
OMIM:616816 |
Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Short stature, Progressive muscle weakness, Rimmed vacuoles, A... |
OMIM:248800 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Arthrogryposis multiplex congenita, Increased variability in muscle fiber diamete... |
OMIM:619334 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Athetosis, Dystonia, Hypoglycemia, Limb hypertonia, Skeletal muscle atrophy, Intrauterine growth ... |
OMIM:617710 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... |
OMIM:616470 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... |
OMIM:310300 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Growth delay, Skeletal myopathy, E... |
ORPHA:57 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Proximal muscle weakness, Reduced muscle collagen VI, Torticollis, Respiratory insufficiency due ... |
OMIM:254090 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Contractures of the joints of the upper limbs, Proximal muscle weakness, Dystonia, Arm dystonia, ... |
ORPHA:300605 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia, Growth delay |
OMIM:616111 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... |
ORPHA:98855 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Proximal muscle weakness, Skeletal muscle atrophy, Hypoglycemia,... |
ORPHA:42 |
Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Gowers sign, Proximal muscle weakness, Limb muscle weaknes... |
OMIM:617258 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Gowers sign, Weakness of facial musculature, Arthrogryposis multiplex congenita, Flexion contract... |
OMIM:618484 |
Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Skeletal muscle atrophy, Dysmetria, Increased intramyocellular lipid droplets, Spastic ... |
OMIM:614487 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Poor head control, Hypoglycemia, Skeletal muscle atrophy, Intrauterine growth retardation, Growth... |
OMIM:245400 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Mitochondrial hypertrophy, Fiber type grouping, Distal lower limb amyotrophy, Interosseus muscle ... |
OMIM:500013 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Ataxia, Type 2 muscle fiber predominance, Impaired tandem gait |
OMIM:619028 |
Polyendocrine-Polyneuropathy Syndrome |
|
Dystonia, Proximal muscle weakness in lower limbs, Type II diabetes mellitus, Hypoglycemia, Ataxi... |
ORPHA:453533 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... |
ORPHA:98863 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Muscle weakness, Proximal muscle wea... |
OMIM:615352 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Proximal muscle weakness, Gait disturbance, Ragged-red muscle fibers, Progressive external ophtha... |
OMIM:609286 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... |
ORPHA:98853 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia, Gait ataxia, Unsteady gait |
OMIM:618158 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Intrauterine growth retardation, Hypoglycemia |
OMIM:619048 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Short stature, Insulin resistance, Diabetes mellitus |
ORPHA:181393 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Muscle weakness, Increased variabili... |
OMIM:616867 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content |
OMIM:611556 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Dysmetria, Muscle weakness, Inability to walk, Dysdiadochokinesis, A... |
OMIM:617675 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Gowers sign, Proximal muscle weakness, Growth delay, Weakness of facial musculature, Short statur... |
ORPHA:502423 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Ophthalmoplegia, Diabetes mellitus |
OMIM:540000 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Ataxia, Dystonia, Hypoglycemia, Lethargy |
OMIM:246900 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Fl... |
ORPHA:178148 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Gait disturbance, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Ophthalmoparesi... |
ORPHA:1349 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Gowers sign, Dystonia, Proximal muscle weakness, Growth delay, Dysmetria, Muscle weakness, Postna... |
OMIM:251950 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Limb mus... |
OMIM:157640 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, First dorsal interossei muscle weakness, Impaired tandem gait, Intrinsic hand m... |
OMIM:619574 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Muscle weakness, Skeletal muscle atrophy, Increased muscle glycogen content |
ORPHA:371 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Ankle flexion contracture, Poor head control, Type 2 muscle fiber atrophy, Hip contracture, Intra... |
ORPHA:319514 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Short stature, Insulin-resistant diabetes mellitus, Diabetic ... |
OMIM:262190 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Neutral Lipid Storage Myopathy |
|
Gowers sign, Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness... |
ORPHA:98908 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... |
OMIM:123320 |
Cog8-Cdg |
|
Hypoglycemia, Poor head control, Skeletal muscle atrophy, Ataxia |
ORPHA:95428 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Lethargy |
ORPHA:324581 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Myopathy, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Weakness of facial musc... |
ORPHA:352447 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Immune-Mediated Necrotizing Myopathy |
|
Fatiguable weakness of proximal limb muscles, Proximal muscle weakness in lower limbs, Myopathy, ... |
ORPHA:206569 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, External ophthalmoplegia, Respiratory insufficiency due ... |
ORPHA:169189 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Growth delay, Axial dystonia, External ophthalmoplegia, Increased variability in muscle fiber dia... |
OMIM:619026 |
Congenital Myasthenic Syndrome |
|
Proximal muscle weakness, Poor head control, Ataxia, Arthrogryposis multiplex congenita, EMG: myo... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Proximal muscle weakness, Poor head control, Ataxia, Arthrogryposis multiplex congenita, EMG: myo... |
ORPHA:98914 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Short stat... |
ORPHA:73272 |
Myotonic Dystrophy 2 |
|
Oligospermia, Proximal muscle weakness, Type 2 muscle fiber atrophy, Neck flexor weakness, Insuli... |
OMIM:602668 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dystonia, Bradykinesia, Ragged-red muscle fibers, Ophthalmoplegia |
OMIM:614924 |
Oculopharyngodistal Myopathy 1 |
|
Proximal muscle weakness, External ophthalmoplegia, Autophagic vacuoles, Respiratory insufficienc... |
OMIM:164310 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Neck flexor weakness, Increased mitochondrial number, EMG: myopathic abnor... |
ORPHA:263297 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Skeletal myopathy, Progressive distal muscle weakness, Generalized musc... |
ORPHA:746 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Reactive hypogly... |
ORPHA:276556 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Dystonia, Hypoglycemia, Short stature, Ataxia, Distal muscle weakness |
OMIM:256810 |
King-Denborough Syndrome |
|
Proximal muscle weakness, Minicore myopathy, Weakness of facial musculature, Short stature, Muscl... |
OMIM:619542 |
Neonatal Hemochromatosis |
|
Hypoglycemia |
ORPHA:446 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Intrauterine growth retardation, Hypoglycemia |
ORPHA:231147 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Type I diabetes me... |
ORPHA:276575 |
Synaptic Congenital Myasthenic Syndromes |
|
Proximal muscle weakness, Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle ... |
ORPHA:98915 |
Endocardial Fibroelastosis |
|
Hypoglycemia |
ORPHA:2022 |
Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Dystonia, Hypoglycemia |
OMIM:614702 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon contracture, EMG: myopathic ab... |
OMIM:615418 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Skeletal muscle atrophy, Lethargy |
ORPHA:156 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal muscle weakness, Poor head control, Skeletal muscle atrophy, Hypoglycemia, Increased int... |
ORPHA:26791 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Neonatal hypoglycemia, Muscle weakness, Rhabdomyolysis, Lethargy |
OMIM:212138 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Intrauterine growth retardation, Hypoglycemia, Severe postnatal growth retardation, Proportionate... |
ORPHA:391408 |
Mental Retardation, Autosomal Dominant 35 |
|
Hypoglycemia, Congenital muscular torticollis, Facial hypotonia |
OMIM:616355 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Short stature, Muscle weakness, A... |
OMIM:530000 |
Classic Galactosemia |
|
Gait disturbance, Dystonia, Hypoglycemia, Gait imbalance, Ataxia, Attention deficit hyperactivity... |
ORPHA:79239 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Progres... |
OMIM:607459 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Pelvic girdle muscle weakness, Fasting hypoglycemia, Skeletal muscle atrophy, Short stature, Prog... |
ORPHA:79240 |
Pparg-Related Familial Partial Lipodystrophy |
|
Abnormality of skeletal muscle fiber size, Myopathy, Maternal diabetes, Skeletal muscle hypertrop... |
ORPHA:79083 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand |
OMIM:175700 |
Native American Myopathy |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Short stature, Arthrogryposis... |
ORPHA:168572 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Postnatal growth retardation, Hypoglycemia, Short stature |
ORPHA:231137 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
Insulinoma |
|
Hyperinsulinemic hypoglycemia, Generalized muscle weakness, Fasting hyperinsulinemia, Reactive hy... |
ORPHA:97279 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Poor head control, Limb hypertonia, Intrauterine growth retardation, Neonatal hypoglycemia, Loss ... |
ORPHA:565624 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Hypoglycemia, Ataxia, Muscle weakness, Rhabdomyolysis |
OMIM:124000 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Growth delay, Hypoglycemia, Delayed puberty, Short stature |
ORPHA:369 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:617156 |
Dilated Cardiomyopathy With Ataxia |
|
Dystonia, Intrauterine growth retardation, Growth delay, Generalized amyotrophy, Neonatal hypogly... |
ORPHA:66634 |
Donohue Syndrome |
|
Fasting hypoglycemia, Skeletal muscle atrophy, Intrauterine growth retardation, Hyperglycemia, Po... |
OMIM:246200 |
Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Shoulder girdle muscle weakness, Rimmed vacuole... |
OMIM:606070 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Ophth... |
ORPHA:171430 |
Combined Malonic And Methylmalonic Acidemia |
|
Dystonia, Hypoglycemia |
ORPHA:289504 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Gait disturbance, Dystonia, Hypoglycemia, Acute rhabdomyolysis, Gait ataxia, Muscle weakness, Ata... |
OMIM:616878 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Short stature, Facial palsy, Ophthalmo... |
ORPHA:3068 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Athetosis, Poor head control, Limb hypertonia, Intrauterine growth retardation, Dysmetria, Genera... |
ORPHA:572798 |
Genetic Recurrent Myoglobinuria |
|
Viral infection-induced rhabdomyolysis, Type 2 muscle fiber atrophy, Myositis, Abnormality of jaw... |
ORPHA:99845 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:618958 |
Isolated Complex I Deficiency |
|
Poor head control, Abnormal mitochondria in muscle tissue, Hypoglycemia, Intrauterine growth reta... |
ORPHA:2609 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Athetosis, Gait disturbance, Inability to walk, Hypoglycemia |
OMIM:618241 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Skeletal muscle atrophy, Hypoglycemia, Short stature, Growth delay, Progres... |
ORPHA:264580 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Skeletal muscle atrophy, Growth delay, Progressive muscle weakness, Increas... |
ORPHA:370 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Lethargy |
ORPHA:2089 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Proximal muscle weakness, Ragged-red muscle fibers, Ophthalmoparesis, Increased variability in mu... |
ORPHA:70595 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Growth delay |
ORPHA:163693 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia |
ORPHA:67048 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Insulin resista... |
ORPHA:2348 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia |
OMIM:614741 |
Temple Syndrome |
|
Recurrent hypoglycemia, Postnatal growth retardation, Type II diabetes mellitus, Short stature |
ORPHA:254516 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Generalized amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Muscle weakness... |
OMIM:616866 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Rhabdo... |
ORPHA:368 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia |
OMIM:610768 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Lethargy |
OMIM:619386 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Muscle weakness, Increased muscle lipid content, Rhabdomyolysis |
ORPHA:228302 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Glycogen Storage Disease Ixc |
|
Postnatal growth retardation, Fasting hypoglycemia, Hypoglycemia, Growth delay |
OMIM:613027 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Dystonia, Inability to walk, Hypoglycemia |
OMIM:614739 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Intrauterine growth retardation, Growth delay, Short stature, Recurrent hypoglycemia, Truncal ata... |
OMIM:616817 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:618253 |
Hypotonia-Cystinuria Syndrome |
|
Muscle weakness, Facial palsy, Neonatal hypoglycemia |
OMIM:606407 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Weakness of facial musculature, Respiratory insufficiency due to muscl... |
OMIM:619461 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Muscle weakness, Myopathy, Rhabdomyolysis, Hypoketotic hypoglycemia |
ORPHA:228305 |
Mitochondrial Trifunctional Protein Deficiency |
|
Myopathy, Hypoketotic hypoglycemia, Generalized muscle weakness, Rhabdomyolysis, Lethargy |
OMIM:609015 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Muscle weakness, Exercise-induced rhabdomyolysis, Nonketotic hypoglycemia, Lethargy |
OMIM:201475 |
Hemochromatosis, Neonatal |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:231100 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Short stature |
ORPHA:364 |
Pyridoxal Phosphate-Responsive Seizures |
|
Unsteady gait, Hypoglycemia |
ORPHA:79096 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:618905 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypoglycemic seizures, Short stature, Neonatal hypoglycemia |
OMIM:262600 |
Overlap Myositis |
|
Proximal muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper ... |
ORPHA:206572 |
Propionic Acidemia |
|
Dystonia, Hypoglycemia, Limb hypertonia, Short stature, Lethargy |
OMIM:606054 |
Hsd10 Disease, Infantile Type |
|
Dystonia, Poor head control, Loss of ability to walk, Hypoglycemia |
ORPHA:391428 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Ragged-red muscle fibers, External ophthalmoplegia, Ophthalmoparesis, Foot... |
ORPHA:298 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia |
OMIM:617872 |
Smith-Kingsmore Syndrome |
|
Diastasis recti, Rhizomelia, Hypoglycemia |
OMIM:616638 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Muscle weakness, Rhabdomyolysis, Lethargy |
ORPHA:159 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Ataxia, Hypoglycemia |
OMIM:220111 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Ataxia, Hypoglycemia, Lethargy |
ORPHA:2394 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Muscle weakness, Ataxia, Neonatal hypoglycemia |
OMIM:619046 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Dystonia, Ragged-red muscle fibers, Skeletal muscle atrophy, Hypogl... |
ORPHA:17 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Myopathy With Lactic Acidosis, Hereditary |
|
Muscle weakness, Myopathy, Increased intramyocellular lipid droplets, Rhabdomyolysis |
OMIM:255125 |
Laron Syndrome |
|
Hypoglycemia, Delayed puberty, Severe short stature |
ORPHA:633 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Ataxia |
OMIM:607426 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Attention deficit hyperactivity disorder, Postnatal growth retardation, Hypoglycemia, Intrauterin... |
ORPHA:397590 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait disturbance, Myopathy, Ragged-red muscle fibers, External ophthalmoplegia, Limb muscle weakn... |
ORPHA:254892 |
Polymyositis |
|
Proximal muscle weakness, Abnormal muscle fiber morphology, Gait disturbance |
ORPHA:732 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Poor head control, Ragged-red muscle fibers, Skeletal muscle atrophy, Hypoglycemia, Growth delay,... |
OMIM:252010 |
Leigh Syndrome |
|
Athetosis, Dystonia, Myopathy, Skeletal muscle atrophy, Hypoglycemia, Intrauterine growth retarda... |
ORPHA:506 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting |
OMIM:606408 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hyperactivity, Diastasis recti, Gait disturbance, Neonatal hypoglycemia |
ORPHA:457485 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... |
ORPHA:263455 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Intrauterine growth retardation, Setting-sun eye phenomenon, Hypogl... |
OMIM:619355 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Myopathy, EMG: myopathic abnormalities, Generalized muscle weakness, Fatigable weakness, Nonketot... |
ORPHA:99901 |
Visceral Steatosis, Congenital |
|
Lethargy, Myocardial steatosis, Hypoglycemia, Neonatal death |
OMIM:228100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Poor head control, Hypoglycemia, Intrauterine growth retardation, Neonatal death, Neonatal hypogl... |
OMIM:619055 |
Glycogen Storage Disease Vii |
|
Muscle weakness, Increased muscle glycogen content |
OMIM:232800 |
Congenital Disorder Of Glycosylation, Type It |
|
Hypoglycemia, Growth delay, Short stature, Muscle weakness, Rhabdomyolysis, Delayed puberty |
OMIM:614921 |
Neuromuscular Oculoauditory Syndrome |
|
Poor head control, EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexion contract... |
OMIM:618733 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Tenorio Syndrome |
|
Macroglossia, Gait disturbance, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Dystonia, Hypoglycemia, Acute rhabdomyolysis, EMG: myopathic abnormalities, Ataxia, Hypoglycemic ... |
ORPHA:480864 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Short stature |
OMIM:248360 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hypoglycemia, Skeletal muscle atrophy, Lethargy |
OMIM:210210 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Myopathy, Short stature, Increased intramyocellular lipid droplets, EMG: myopathic abnormalities,... |
ORPHA:98907 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Intrauterine growth retardation, Short stature, Insulin resistance, Recurr... |
ORPHA:813 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Late-onset proximal muscle weakness, Increased intramyocellular... |
ORPHA:79102 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Ataxia, Contracture of the proximal interphalangeal joint of the 4th toe, Unsteady ... |
ORPHA:457279 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ragged-red muscle fibers, Distal muscle weakness, Progressive external ophthalmoplegia, Distal am... |
OMIM:603041 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Proximal amyotrophy, Type 2 muscle fiber atrophy, Ophthalmoparesis, Fatigable weakness |
OMIM:159400 |
Maple Syrup Urine Disease |
|
Ataxia, Hypoglycemia, Lethargy |
OMIM:248600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia |
OMIM:615160 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia |
OMIM:266150 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Lethargy |
OMIM:616483 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Hypoglycemia, Intrauterine growth retardation |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Hypoglycemia, Intrauterine growth retardation |
OMIM:618839 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Myopathy, Hypoglycemia, Skeletal muscle atrophy, Short stature, Muscle weakness, Abdominal wall m... |
ORPHA:109 |
Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Pelvic girdle muscle weakness, Fatigable weakness of bulbar muscles, P... |
ORPHA:2020 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia, Short stature |
ORPHA:436174 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Muscle weakness, Neonatal death, Hypoglycemia, Glycosuria |
OMIM:231680 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Growth delay, Delayed puberty |
ORPHA:95619 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hypoglycemia, Intrauterine growth retardation, Skeletal muscle atrophy, Growth delay, Short stature |
OMIM:608779 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Short stature, Hypoglycemia, Diabetes mellitus, Glycosuria |
OMIM:616026 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death |
OMIM:300219 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Intrauterine growth retardation, Hyperinsulinemic hypoglycemia, Proport... |
ORPHA:71212 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Muscle weakness, Hypoglycemia |
OMIM:611126 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Generalized muscle weakness |
OMIM:619424 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture |
OMIM:615368 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Respiratory paralysis, Rhabdomyolysis |
ORPHA:449285 |
Mody |
|
Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycem... |
ORPHA:552 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Intrauterine growth retardation, Short stature, Hypoglycemia, Flexion contracture |
OMIM:618005 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased muscle lipid content, Knee flexion contracture, Nonketotic hypoglycemia, Elbow flexion ... |
OMIM:608836 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Absent muscle fiber merosin, Intercostal muscle weakness, Myositis, Macroglossia, Facial palsy, C... |
ORPHA:258 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:618838 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Fasting hypoglycemia, Hypoglycemia |
OMIM:261680 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Intrauterine growth retardation, Severe postnatal growth retardation, Short... |
ORPHA:769 |
Nephrotic Syndrome, Type 14 |
|
Ataxia, Hypoglycemia |
OMIM:617575 |
Timothy Syndrome |
|
Hypoglycemia |
OMIM:601005 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Lethargy |
OMIM:201450 |
Glycogen Storage Disease Ia |
|
Decreased muscle mass, Hypoglycemia, Delayed puberty, Short stature |
OMIM:232200 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Lethargy |
OMIM:615751 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Severe postnatal growth retardation, Flexion contracture, Neonatal hypoglycemia |
ORPHA:35173 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia |
OMIM:201910 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hypoglycemia |
ORPHA:5 |
Idiopathic Camptocormia |
|
Dystonia, Myositis, EMG: myopathic abnormalities, Proximal spinal muscular atrophy, Abnormal musc... |
ORPHA:1320 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hypoketotic hypoglycemia, Growth delay |
OMIM:231530 |
Bachmann-Bupp Syndrome |
|
Attention deficit hyperactivity disorder, Hypoglycemia |
OMIM:619075 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Lethargy |
OMIM:600649 |
Melas |
|
Gait disturbance, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Myopathy, Pro... |
ORPHA:550 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Lethargy |
OMIM:210200 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Wrist drop, Limb muscle weakness, EMG: myopathic abnormalities, Generalize... |
ORPHA:1900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Weakness of facial musculature, Respiratory insufficiency due to muscle weakness, Increased intra... |
OMIM:220110 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Muscle weakness, Myopathy, Rhabdomyolysis, Hypoketotic hypoglycemia |
ORPHA:157 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia |
OMIM:614736 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Lethargy |
OMIM:255120 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia |
OMIM:240200 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Myopathy, Neonatal hypoglycemia |
OMIM:261740 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Growth delay |
OMIM:251880 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Growth delay, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Po... |
ORPHA:2088 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia |
ORPHA:348 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Lethargy |
OMIM:229700 |
Oculodentodigital Dysplasia |
|
Gait disturbance, Hypoglycemia, Ataxia, Muscle weakness, Camptodactyly of finger |
ORPHA:2710 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia |
ORPHA:79644 |
Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia |
ORPHA:79237 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... |
ORPHA:2298 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Severe intrauterine growth retardation, Decreased muscle mass, Fasting hypoglycemia, Intrauterine... |
ORPHA:96182 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Myopathy, Skeletal muscle atrophy, Flexion contracture |
ORPHA:367 |
Glutaric Acidemia I |
|
Dystonia, Hypoglycemia |
OMIM:231670 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Recurrent hypoglycemia, Hypoinsulinemia, Hypoglycemia |
ORPHA:2126 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia |
OMIM:246450 |
Bannayan-Riley-Ruvalcaba syndrome |
|
Myopathy, Postnatal growth retardation, Hypoglycemia |
OMIM:153480 |
Late-Onset Isolated Acth Deficiency |
|
Muscle weakness, Hypoglycemia, Type I diabetes mellitus, Lethargy |
ORPHA:199299 |
Pituitary Stalk Interruption Syndrome |
|
Hypoglycemia, Delayed puberty, Short stature |
ORPHA:95496 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Ataxia, Hypoglycemia |
ORPHA:134 |
Cholera |
|
Muscle weakness, Hypoglycemia, Lethargy |
ORPHA:173 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:613150 |
Silver-Russell Syndrome 1 |
|
Fasting hypoglycemia, Intrauterine growth retardation |
OMIM:180860 |
Menkes Disease |
|
Muscle weakness, Aplasia/Hypoplasia of the abdominal wall musculature, Hypoglycemia, Intrauterine... |
ORPHA:565 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Hypoketotic hypoglycemia, Lethargy |
ORPHA:26793 |
Pyruvate Carboxylase Deficiency |
|
Dystonia, Hypoglycemia, Growth delay, Hyperglycemia, Ataxia, Tip-toe gait |
ORPHA:3008 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
Holoprosencephaly |
|
Dystonia, Hypoglycemia, Congenital diaphragmatic hernia, Muscle weakness, Diabetes mellitus |
ORPHA:2162 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Hypoglycemia, Diabetes mellitus |
OMIM:609069 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia |
OMIM:615577 |
Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia |
ORPHA:199296 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Type 2 muscle fiber atrophy, Diabetes mellitus |
OMIM:613845 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dystonia, Ragged-red muscle fibers, Ophthalmoparesis, Muscle weakness, Ataxia, Gait ataxia |
ORPHA:255210 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Skeletal myopathy, Abnormality of the shoulder girdle musculature... |
ORPHA:565612 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Hypoglycemia |
OMIM:608624 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Poor head control, Hypoglycemia |
OMIM:618329 |
Leprechaunism |
|
Severe intrauterine growth retardation, Fasting hypoglycemia, Skeletal muscle atrophy, Insulin re... |
ORPHA:508 |
Mirage Syndrome |
|
Intrauterine growth retardation, Hypoglycemia, Short stature |
OMIM:617053 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Type 2 muscle fiber predominance, Conge... |
OMIM:619036 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Athetosis, Dystonia, Fasting hypoglycemia, Ataxia, Limb dystonia |
ORPHA:25 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypoglycemia, Growth delay, Weakness of facial musculature, Neonatal hypoglycemia |
OMIM:619418 |
Kabuki Syndrome 2 |
|
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:300867 |
Shigellosis |
|
Rhabdomyolysis, Hypoglycemia |
ORPHA:810 |
Cerebral Visual Impairment |
|
Attention deficit hyperactivity disorder, Neonatal hypoglycemia |
ORPHA:447788 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia |
OMIM:202200 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia |
OMIM:201400 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Intrauterine growth retardation, Hypoglycemia, Growth delay, Ataxia, Lethargy |
ORPHA:79282 |
Congenital Ptosis |
|
Increased muscle lipid content, Congenital facial diplegia, Ophthalmoplegia, Congenital fibrosis ... |
ORPHA:91411 |
Immunodeficiency 59 And Hypoglycemia |
|
Hypoglycemia, Short stature |
OMIM:233600 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Neonatal hypoglycemia |
ORPHA:445038 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Growth delay, Macroglossia, Pituitary dwarfism, Lethargy |
ORPHA:226307 |
Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia |
OMIM:600955 |
Acute Adrenal Insufficiency |
|
Muscle weakness, Hypoglycemia, Delayed puberty |
ORPHA:95409 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia |
OMIM:617049 |
Sheehan Syndrome |
|
Muscle weakness, Hypoglycemia |
ORPHA:91355 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Recurrent hypoglycemia, Nonketotic hypoglycemia, Ataxia, Lethargy |
ORPHA:20 |
Glycogen Storage Disease Ib |
|
Hypoglycemia, Delayed puberty, Short stature |
OMIM:232220 |
Familial Glucocorticoid Deficiency |
|