| Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Difficulty ... |
OMIM:616199 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... |
OMIM:158600 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Difficulty walking, Neck muscle weakness, Limb muscle weakn... |
OMIM:500002 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy, Steppage gait, Distal muscle weakness |
OMIM:604454 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, P... |
OMIM:618848 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... |
ORPHA:457050 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb muscle weakness, Difficulty walking, Distal upper limb amyotro... |
ORPHA:603 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
| Myasthenic Syndrome, Congenital, 17 |
|
Difficulty walking, Type 1 muscle fiber predominance, Muscle weakness |
OMIM:616304 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness, Proximal muscle weakness |
OMIM:616231 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, G... |
OMIM:164300 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Proximal muscle weakness, Mus... |
OMIM:609524 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li... |
OMIM:608358 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... |
OMIM:617030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... |
OMIM:619042 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Short stature, Facial palsy, N... |
OMIM:616209 |
| 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 |
| 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 |
| Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... |
ORPHA:97240 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... |
OMIM:619477 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... |
OMIM:618940 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
OMIM:300559 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness |
OMIM:147421 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... |
OMIM:610542 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Tip-toe gait, Tibialis anterior muscle atrophy, Neck mu... |
OMIM:160500 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Fatty replacement of ... |
ORPHA:171706 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Gait disturbance, Facia... |
OMIM:609273 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... |
ORPHA:280333 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g... |
OMIM:254130 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... |
OMIM:609115 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Progressive distal muscle wea... |
ORPHA:399086 |
| Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Difficulty walking, Neck muscle weakness, ... |
OMIM:609285 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Fiber type grouping, Distal amyotrophy, Distal muscle weakness |
OMIM:614369 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... |
OMIM:618654 |
| 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 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Loss of ambula... |
OMIM:603511 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... |
ORPHA:1878 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
| Nemaline Myopathy 7 |
|
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle weakness, Limb m... |
OMIM:610687 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... |
OMIM:620389 |
| Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Limb muscle weakness, Generalized muscle weakness... |
OMIM:256030 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... |
ORPHA:2593 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Short stature, Hypoglycemia, Myopathy |
ORPHA:366 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... |
ORPHA:178145 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Difficulty walking, Progressive distal muscle weakness, Multiple joint contrac... |
ORPHA:98911 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Steppage gait, Tibialis mu... |
OMIM:600334 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Steppage g... |
OMIM:610099 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... |
OMIM:620068 |
| Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness |
OMIM:614750 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
| Short Stature Due To Partial Ghr Deficiency |
|
Short stature, Delayed puberty, Hypoglycemia, Growth delay |
ORPHA:314802 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:618138 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... |
ORPHA:353 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:608807 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Distal Myopathy With Anterior Tibial Onset |
|
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... |
ORPHA:178400 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Gait ataxia, Upper limb muscle wea... |
ORPHA:309169 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:613204 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
ORPHA:171442 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Q... |
OMIM:620285 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... |
OMIM:616471 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... |
OMIM:609283 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Proximal mu... |
OMIM:611615 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Loss of ambulation, Calf muscle hyper... |
OMIM:616052 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Generalized weakness of limb muscles, Difficulty walking, Type 1 muscle fiber predom... |
ORPHA:353327 |
| 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 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... |
OMIM:300696 |
| Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Muscular dystrophy, Difficulty walking, Limb-girdle muscle weakness, H... |
OMIM:613818 |
| 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 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Merrf |
|
Short stature, Ragged-red muscle fibers, Myopathy, Ataxia |
ORPHA:551 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Short stature, Severe postnatal growth retardation, Hypoglycemia, Pituitary dwarfism |
OMIM:262700 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... |
OMIM:608340 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... |
ORPHA:171445 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Muscle weakness, Ragged-red muscle fibers, Myopathy, Ataxia |
OMIM:545000 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Progressive distal mu... |
ORPHA:399103 |
| Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... |
OMIM:620249 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Abnormal muscle fiber morph... |
ORPHA:270 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Progressive ex... |
OMIM:617069 |
| Bethlem Muscular Dystrophy |
|
Difficulty walking, Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture... |
ORPHA:610 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... |
OMIM:160565 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, P... |
OMIM:613530 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Fatig... |
ORPHA:424107 |
| 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 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:620246 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... |
OMIM:609284 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... |
OMIM:160150 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... |
ORPHA:34515 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Severe short stature, Intrauterine growth retardation, Hypoglycemia |
OMIM:223500 |
| Short Stature Due To Ghsr Deficiency |
|
Short stature, Delayed puberty, Hypoglycemia, Growth delay |
ORPHA:314811 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... |
OMIM:620542 |
| Laing Early-Onset Distal Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... |
ORPHA:59135 |
| Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Gowers sign, Intrauterine growth retardation, Waddlin... |
OMIM:255200 |
| Nemaline Myopathy 10 |
|
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Neonatal death, Generalized mus... |
OMIM:616165 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... |
OMIM:613205 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Broad-based gait, Difficulty walking, Myopathy, C... |
ORPHA:119 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia |
ORPHA:293964 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... |
OMIM:609452 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Prog... |
OMIM:617070 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Dysmetria, Distal lower limb muscle weakness, Fiber type grouping, Th... |
OMIM:619903 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... |
OMIM:620161 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Neck muscle weakness, Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied mus... |
OMIM:500009 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... |
ORPHA:171439 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... |
ORPHA:663 |
| 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 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle weakness |
OMIM:614807 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Mitochondrial hypertrophy, ... |
OMIM:602541 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Hypoglycemia, Gait imbalance, Rhabdomyolysis, Short stature, Muscle we... |
OMIM:618120 |
| Congenital Myopathy 24 |
|
Nemaline bodies, Type 1 muscle fiber predominance, Scapular winging, Gowers sign, Facial palsy, M... |
OMIM:617336 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Elbow flexion contracture, Inability to walk, Abnormality of the shou... |
ORPHA:206546 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Muscle weakness, Respiratory insufficiency due... |
OMIM:300816 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... |
OMIM:614302 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... |
OMIM:601462 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Inability to walk, Type 1 muscle fiber predominance, Ataxia, Respiratory... |
OMIM:618276 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, External ophthalmoplegia, Proximal muscle weaknes... |
ORPHA:98905 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic flaccid weakness, Respiratory paralysis, Increased intramyoc... |
ORPHA:681 |
| 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 2A, Typical, Autosomal Dominant |
|
Nemaline bodies, Late-onset distal muscle weakness, Type 1 muscle fiber predominance, Limb muscle... |
OMIM:161800 |
| 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 |
| Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
ORPHA:75840 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... |
OMIM:618823 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Ophthalmoparesis, Broad-based gait, Skeletal muscle atrophy, Lower limb muscle weakness, Difficul... |
OMIM:616479 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Ophthalmoparesis, Neck muscle weakness, Limb muscle weakness, Weakness of facial musculature, Gen... |
OMIM:608930 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Inability to walk, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Loss of abili... |
OMIM:609560 |
| Myasthenic Syndrome, Congenital, 5 |
|
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Type 1 muscle fiber predominance, ... |
OMIM:603034 |
| Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne... |
OMIM:619790 |
| Glycogen Storage Disease Ixb |
|
Growth delay, Hypoglycemia, Short stature, Increased muscle glycogen content, Muscle weakness |
OMIM:261750 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... |
ORPHA:352479 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Athetosis, Ragged-red muscle fibers, Ataxia |
OMIM:615159 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Diffi... |
ORPHA:401768 |
| Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Camptodactyly of finger, Diaphragmatic weakness, ... |
OMIM:614399 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Difficulty walking, Ragged-red muscle fibers, Myopathy, Ataxia, Growth delay |
OMIM:618242 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mitochondrial swellin... |
ORPHA:397744 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Muscular dystrophy, Increased endomysial connective tissue, Ophthalmoplegia, Respiratory insuffic... |
OMIM:607855 |
| Glycogen Storage Disease Iii |
|
Distal amyotrophy, Hypoglycemia, Myopathy, Short stature, Muscle weakness |
OMIM:232400 |
| Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Musc... |
ORPHA:263494 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Severe short stature, Growth delay, Hypoglycemia |
OMIM:262400 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Generalized muscle weakness |
ORPHA:238329 |
| Hereditary Continuous Muscle Fiber Activity |
|
Spastic gait, Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Ataxia |
ORPHA:972 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Postnatal growth retardation, Diastasis recti, Short stature, Neonatal hypoglycemia |
ORPHA:231140 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia |
OMIM:240800 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers |
OMIM:619024 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Short stature, Increased variability in muscle fiber diameter, Increased intramyocellular lipid d... |
OMIM:619065 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Proximal muscle weakness... |
OMIM:255310 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Inability to walk, Weakness of facial musculature, Ty... |
ORPHA:596 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
| Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, Fatigua... |
ORPHA:171881 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Postnatal growth retardation, Muscle weakness, Hypoglycemia |
OMIM:616111 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... |
OMIM:617114 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Fatigable weakness of skeletal muscles, Difficulty walking, Inabi... |
ORPHA:206559 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty walking, Muscle fiber atrophy, Myo... |
ORPHA:369840 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul... |
ORPHA:98913 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Weakness of facial musculatur... |
OMIM:618416 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Hypoglycemia, Intrauterine growth retardation, Dysmetria, Finger joint contracture, Short... |
ORPHA:48431 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Progressive cerebellar ataxia |
ORPHA:67046 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Difficulty walking, Limb-girdle muscle weakness, Hypoglycosylation of alpha-d... |
OMIM:609308 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Intermediate Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Facial diplegia, Type 1 muscle fibe... |
ORPHA:171433 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... |
ORPHA:98902 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Increased variability in muscle fiber diameter, Gait ataxia, Ataxia |
OMIM:617915 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
| Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Waddling gait, Facial diplegia, ... |
ORPHA:171436 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Left ventricular noncompaction, Ragged-red muscle fibers, Ophthalmoplegia, Increased intramyocell... |
OMIM:252011 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Progressive distal muscular atrophy, Peroneal muscle atrophy, Broad-based gait, Scapular muscle a... |
OMIM:181405 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Difficulty walking, Ophthalmoparesis, Ragged-red muscle fibers, Paroxysmal choreoathetosis |
OMIM:500003 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
| 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 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| Glycogen Storage Disease Vi |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:232700 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Difficulty walking, Distal uppe... |
ORPHA:600 |
| Kearns-Sayre Syndrome |
|
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia |
ORPHA:480 |
| Central Core Disease |
|
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Ophthal... |
ORPHA:597 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Ophthalmoparesis, Skeletal muscle atrophy, Decreased muscle mass, Fatigable weakness, Type 2 musc... |
OMIM:608931 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Rimmed vacuoles, Necrotizing myopathy, Difficulty walking, Facial diplegia, Foot dorsiflexor weak... |
ORPHA:329478 |
| Mehmo Syndrome |
|
Hypoglycemia, Difficulty walking, Inability to walk, Gait ataxia, Birth length less than 3rd perc... |
OMIM:300148 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Type 1 muscle fiber... |
OMIM:617519 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle... |
OMIM:605809 |
| Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Abnormal mitoch... |
ORPHA:99013 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy, Ophthalmoplegia, Gait disturbance, Ataxia |
OMIM:125250 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... |
ORPHA:169186 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Hypoglycemia |
OMIM:610090 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Decreased muscle mass, Delayed puberty, Short stature, Neonatal hypoglycemia, Growth delay |
ORPHA:631 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Muscle fiber atrophy, Intermittent episodes of respiratory insufficiency due ... |
ORPHA:324604 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Proximal muscle weakness, Peroneal musc... |
OMIM:611588 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
External ophthalmoplegia, Shuffling gait, Hand muscle weakness, Muscle fiber atrophy, Ragged-red ... |
ORPHA:254886 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Ophthalmoparesis, Fatigable weakness, Bulbar palsy, Type 2 muscle fiber atrophy, Respiratory insu... |
OMIM:254210 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Muscle fiber atrophy, Li... |
OMIM:258450 |
| Spinocerebellar Ataxia 28 |
|
Ophthalmoparesis, Limb ataxia, Gait ataxia, Ragged-red muscle fibers, Lower limb hypertonia |
OMIM:610246 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Hypoglycemia, Intrauterine growth retardation, Dysmetria, Limb hypertoni... |
OMIM:617710 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Muscle weakness |
OMIM:616794 |
| Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... |
ORPHA:536516 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Hip contracture, Proximal muscle weakness, Weakness o... |
OMIM:615959 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Distal arth... |
OMIM:620011 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... |
ORPHA:254864 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal upper limb muscle weakness, Mitochondrial hypertrophy, Interosseus muscle atrophy, Difficu... |
OMIM:500013 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Atax... |
OMIM:613662 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Generalized muscle weakness, Increased variability in muscle fiber diameter, Neonatal death |
OMIM:614096 |
| Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Neck muscle weakness, Limb muscle we... |
OMIM:617258 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Ketotic hypoglycemia, Myopathy |
ORPHA:26792 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... |
OMIM:616816 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Inability to walk, Loss of ambulation, Gait disturbance, Athetosis |
OMIM:618241 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Shor... |
OMIM:226670 |
| Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Limb ataxia... |
OMIM:248800 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Hypoglycemia, Fatigable weakness, Myopathy, Proximal muscle weakness, Fa... |
ORPHA:42 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Proximal muscle weakness in lower limbs, Hypoglycemia, Postnatal growth retardation, Type II diab... |
ORPHA:453533 |
| 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 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypogl... |
ORPHA:324575 |
| Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Ragged-red muscle fibers, Facial palsy, Neonatal hypoglycemia, Musc... |
OMIM:606407 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Unsteady gait, Gait ataxia, Recurrent hypoglycemia |
OMIM:618158 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... |
ORPHA:57 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Hypoglycemia, Intrauterine growth retardation, Neonatal death, Poor head... |
OMIM:245400 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... |
OMIM:310300 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98855 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Akinesia, Neonatal death, Arthro... |
OMIM:619334 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Generalized muscle weakness, H... |
ORPHA:276608 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... |
OMIM:616867 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Poor head control, Increased variability in muscle fiber diameter |
OMIM:613752 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Intrauterine growth retardation, Left ventricular hypertrophy, Hypoglycemia |
OMIM:619048 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Growth delay, Muscle ... |
OMIM:613561 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... |
OMIM:616470 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Ankle flexion contracture, Intrauterine growth retardation, Type 1 muscle fiber predominance, Hip... |
ORPHA:319514 |
| Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Macroglossia, Progressive muscle weakness, Skelet... |
OMIM:151800 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Lower limb muscle weakness |
OMIM:617950 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98863 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ophthalmoparesis, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Gait disturbanc... |
ORPHA:1349 |
| Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98853 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Maternal diabetes, Fasting ... |
ORPHA:276580 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| 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 |
| Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty walking, Inability ... |
OMIM:617675 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Impaired tandem gait, Type 2 muscle fiber predominance, Dysmetria, Ataxia |
OMIM:619028 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Generalized amyotrophy |
OMIM:610006 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... |
OMIM:254090 |
| Cog8-Cdg |
|
Poor head control, Skeletal muscle atrophy, Hypoglycemia, Ataxia |
ORPHA:95428 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Short stature, Growth delay |
OMIM:620211 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Left ventricular hypertrophy, Diabetes mellitus |
OMIM:540000 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Axial muscle weakness, Flexion contrac... |
ORPHA:178148 |
| Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Triceps weakness, Intrinsi... |
OMIM:619574 |
| Houge-Janssens Syndrome 1 |
|
Hypoglycemia, Intrauterine growth retardation, Gait ataxia, Congenital muscular torticollis, Faci... |
OMIM:616355 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
| Neutral Lipid Storage Myopathy |
|
Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we... |
ORPHA:98908 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, External ophthalmoplegia, Broad-based gait, Myopa... |
OMIM:607459 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypoglycemia, Limb hypertonia, Joint contracture, Poor head control, Short stature |
ORPHA:35708 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Diffic... |
OMIM:255125 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakness of facial musculatur... |
ORPHA:352447 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... |
OMIM:617228 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Growth delay, Dysdiadochokinesis, Difficulty walk... |
ORPHA:502423 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Tip-toe gait, Difficult... |
ORPHA:300605 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Distal amyotrophy, Loss of ambulation, Ophthalmoplegia, Ataxia, Fiber type grouping, Athetosis, M... |
OMIM:271245 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... |
OMIM:123320 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Congenital Myasthenic Syndrome |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Tip-toe gait, Difficulty walking, Muscle f... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Tip-toe gait, Difficulty walking, Muscle f... |
ORPHA:98914 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... |
OMIM:619542 |
| Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Axial muscle weakness, Proximal muscle weakness, ... |
OMIM:616720 |
| Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Axial muscle weakness... |
ORPHA:206569 |
| Oculopharyngodistal Myopathy 1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... |
OMIM:164310 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Athetosis |
OMIM:617235 |
| Neonatal Hemochromatosis |
|
Hypoglycemia |
ORPHA:446 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Intrauterine growth retardation, Hypoglycemia |
ORPHA:231147 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Total ophthalmoplegia, L... |
OMIM:157640 |
| Carnitine Deficiency, Systemic Primary |
|
Recurrent hypoglycemia, Myopathy, Proximal muscle weakness, Reduced muscle carnitine level, Impai... |
OMIM:212140 |
| Endocardial Fibroelastosis |
|
Hypoglycemia |
ORPHA:2022 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Hypoglycemia, Intrauterine growth retardation, Proportionate short stature, Sev... |
ORPHA:391408 |
| Optic Atrophy 11 |
|
Increased variability in muscle fiber diameter, Facial diplegia, Dysmetria, Gait apraxia, Ataxia,... |
OMIM:617302 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Ophthalmoparesis, Hypoglycemia, Difficulty walking, Gait ataxia, Ragged-red muscle fibers, Ataxia... |
OMIM:620451 |
| Synaptic Congenital Myasthenic Syndromes |
|
Ophthalmoparesis, Skeletal muscle atrophy, Hand muscle weakness, Neck muscle weakness, Type 1 mus... |
ORPHA:98915 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Ataxia |
OMIM:246900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Nemaline bodies, Intrauterine growth retardation, Hypoglycemia, Elbow contracture |
OMIM:620275 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tip-toe gait, Lower limb muscle weakness, Hypoketotic hypoglycemia, Progressive distal muscle wea... |
ORPHA:746 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture, Growth delay, External ophth... |
OMIM:619026 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Short stature, Postnatal growth retardation, Hypoglycemia |
ORPHA:231137 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Left ventricular hypertrophy, Achilles tendon ... |
OMIM:615418 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Recurrent hypoglycemia, Postnatal growth retardation, Rhabdomyolysis, Ke... |
ORPHA:79240 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Hypoglycemia, Inability to walk, Rhabdomyolysis, Proximal muscle weaknes... |
ORPHA:26791 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Ataxia, Short stature, Diabetes m... |
OMIM:530000 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia |
ORPHA:35878 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Tip-toe gait, Intrauterine growth retardation, Loss of ambulation, Limb hypertonia, Poor head con... |
ORPHA:565624 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle weakness, Delayed p... |
OMIM:600462 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Short stature, Delayed puberty, Hypoglycemia, Growth delay |
ORPHA:369 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Neonatal hypoglycemia, Muscle weakness, Rhabdomyolysis |
OMIM:212138 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... |
OMIM:616866 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Recurrent hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Hyperinsulinemic hypogly... |
ORPHA:276556 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Proximal amyotrophy, Facial palsy... |
OMIM:615084 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, ... |
ORPHA:73272 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Distal lower limb muscle weakness, Small thenar eminence, Scapular winging, Tendon rupture, Fiber... |
OMIM:620080 |
| Native American Myopathy |
|
Congenital contracture, Skeletal muscle atrophy, Inability to walk, Muscle fiber atrophy, Short s... |
ORPHA:168572 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycem... |
ORPHA:276575 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Skeletal muscle atrophy, Postnatal growth retardation, Intrauterine g... |
OMIM:246200 |
| Classic Galactosemia |
|
Hypoglycemia, Gait imbalance, Gait disturbance, Delayed puberty, Ataxia |
ORPHA:79239 |
| 2P21 Microdeletion Syndrome |
|
Growth delay, Hypoglycemia |
ORPHA:163693 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Gait ataxia, Rhabdomyolysis, Gait disturbance, Ataxia, Acute rhabdomyolysis, Muscle... |
OMIM:616878 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:618958 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Myopathy, Maternal diabetes, Abnormality... |
ORPHA:79083 |
| Isolated Complex I Deficiency |
|
Hypoglycemia, Intrauterine growth retardation, Ataxia, Poor head control, Diabetes mellitus, Musc... |
ORPHA:2609 |
| Myotonic Dystrophy 2 |
|
Sternocleidomastoid amyotrophy, Insulin insensitivity, Type II diabetes mellitus, Weakness of fac... |
OMIM:602668 |
| Temple Syndrome |
|
Short stature, Postnatal growth retardation, Type II diabetes mellitus, Recurrent hypoglycemia |
ORPHA:254516 |
| Dilated Cardiomyopathy With Ataxia |
|
Diaphragmatic eventration, Intrauterine growth retardation, Ataxia, Neonatal hypoglycemia, Growth... |
ORPHA:66634 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia |
OMIM:614741 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Difficulty walking, Neck mus... |
ORPHA:99845 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Athetosis, Difficulty walking, Intrauterine growth retardation, Dysmetria, Limb hypertonia, Ataxi... |
ORPHA:572798 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Hypoglycemia, Postnatal growth retardation, Ataxia, Short stature |
OMIM:616113 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Ophthalmoparesis, Skeletal muscle atrophy, Abnormal muscle fiber morphology, Short stature, Facia... |
ORPHA:3068 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia |
ORPHA:67048 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Poor head control, Increased variability in muscle fiber diameter, Mitochondrial swelling |
OMIM:615595 |
| Hemochromatosis, Neonatal |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:231100 |
| Insulinoma |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Genera... |
ORPHA:97279 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Hypoglycemia |
ORPHA:156 |
| Severe Congenital Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Axia... |
ORPHA:171430 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Recurrent hypoglycemia, Intrauterine growth retardation, Gait ataxia, Delayed puberty, Short stat... |
OMIM:616817 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Postnatal growth retardation, Growth delay, Fasting hypoglycemia |
OMIM:613027 |
| Hsd10 Disease, Infantile Type |
|
Poor head control, Choreoathetosis, Loss of ambulation, Hypoglycemia |
ORPHA:391428 |
| Glycogen Storage Disease Xv |
|
Type 1 muscle fiber predominance, Muscle weakness, Scapular winging |
OMIM:613507 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Short stature, Hypoglycemia |
ORPHA:364 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Proximal m... |
OMIM:300257 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Rhabdomyolysis, Muscle weakness, Myopathy |
ORPHA:228305 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Abnormal mitochondrial shape, Skeletal muscle atr... |
ORPHA:17 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Gait ataxia, Ragged-red muscle ... |
ORPHA:70595 |
| Silver-Russell Syndrome 2 |
|
Short stature, Intrauterine growth retardation, Neonatal hypoglycemia |
OMIM:618905 |
| Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Hyperglycemia, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
| Pyruvate Carboxylase Deficiency |
|
Athetosis, Hypoglycemia |
OMIM:266150 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Poor head control, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominan... |
OMIM:612949 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Proximal muscle weakness, Weakness o... |
OMIM:616239 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Neonatal hypoglycemia, Muscle weakness, Ataxia |
OMIM:619046 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, Hypoglycemia |
OMIM:614739 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Myopathy, Abnormality of skeletal muscle fiber size, Diabetes mellitus, Skele... |
ORPHA:2348 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... |
OMIM:619461 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Loss of ambulation, Intrauterine growth retardation, Hypoglycemia |
OMIM:618253 |
| Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle weakness, Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis |
ORPHA:228302 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
| Smith-Kingsmore Syndrome |
|
Rhizomelia, Diastasis recti, Hypoglycemia |
OMIM:616638 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Growth delay, Hypoglycemia, Progressive muscle weakness, Delayed puberty... |
ORPHA:264580 |
| Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
| Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia |
ORPHA:289504 |
| Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Broad-based gait, Skeletal muscle atrophy, Hypoglycemia, Recurrent hypoglycemia, Loss of ambulati... |
OMIM:256810 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Short stature, Hypoglycemia |
OMIM:248360 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hypoglycemia, Ataxia |
ORPHA:2394 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
External ophthalmoplegia, Ophthalmoparesis, Decreased muscle mass, Foot dorsiflexor weakness, Rag... |
ORPHA:298 |
| Laron Syndrome |
|
Severe short stature, Delayed puberty, Hypoglycemia |
ORPHA:633 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Unsteady gait, Hypoglycemia |
ORPHA:79096 |
| Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Difficulty walking,... |
ORPHA:206572 |
| Diarrhea 13 |
|
Recurrent hypoglycemia |
OMIM:620357 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia |
OMIM:617872 |
| Propionic Acidemia |
|
Short stature, Limb hypertonia, Hypoglycemia |
OMIM:606054 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia |
OMIM:619386 |
| Glycogen Storage Disease Vii |
|
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Muscle weakness |
OMIM:232800 |
| Glycogen Storage Disease Ixa1 |
|
Growth delay, Hypoglycemia |
OMIM:306000 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Athetosis, Hypoglycemia, Intrauterine growth retardation, Multiple joint... |
ORPHA:506 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Fatigable weakness, Myopathy, Generalized muscle weakness, Nonketotic hypoglycemia, EMG: myopathi... |
ORPHA:99901 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Intrauterine growth retardation, Left ventricular hypertrophy, Setting-sun eye phenomenon, Hypogl... |
OMIM:619355 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:614702 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hypoketotic hypoglycemia, Rhabdomyolysis, Myopathy, Generalized muscle weakness |
OMIM:609015 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Muscle weakness, Nonketotic hypoglycemia |
OMIM:201475 |
| Tenorio Syndrome |
|
Macroglossia, Hypoinsulinemia, Gait disturbance, Hypoglycemia |
OMIM:616260 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia |
ORPHA:2089 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hypoglycemia, Rhabdomyolysis, Delayed puberty, Short stature, Growth delay, Muscle weakness |
OMIM:614921 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Muscle weakness, Rhabdomyolysis |
ORPHA:159 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Intrauterine growth retardation, Neonatal death, Bulbar palsy, Poor head control, N... |
OMIM:619055 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia |
OMIM:620137 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Hypoglycemia, Ragged-red muscle fibers, Increased intramyocellular lipid... |
OMIM:252010 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture |
OMIM:620240 |
| Glycogen Storage Disease Ia |
|
Decreased muscle mass, Hypoglycemia, Delayed puberty, Fasting hypoglycemia, Short stature, Growth... |
OMIM:232200 |
| Polymyositis |
|
Proximal muscle weakness, Gait disturbance, Abnormal muscle fiber morphology |
ORPHA:732 |
| Mody |
|
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, ... |
ORPHA:552 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Gait disturbance, Neonatal hypoglycemia, Diastasis recti |
ORPHA:457485 |
| Silver-Russell Syndrome |
|
Insulin resistance, Decreased muscle mass, Recurrent hypoglycemia, Postnatal growth retardation, ... |
ORPHA:813 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemia, Ataxia, Hypoglycemic seizures, Acute rhabdomyolysis, EMG: myopathic abnormalities |
ORPHA:480864 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... |
OMIM:618733 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia |
OMIM:615160 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Contracture of the proximal interphalangeal joint of the 4th toe, Congenital muscul... |
ORPHA:457279 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Loss of ambulation, Decreased level of coenzyme Q10 in skeletal muscle,... |
OMIM:607426 |
| Shashi-Pena Syndrome |
|
Intrauterine growth retardation, Limb hypertonia, Hypoglycemia |
OMIM:617190 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Ragged-red muscle fibers, Rhabdomyolysis, Ne... |
OMIM:124000 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Intrauterine growth retardation, Hypoglycemia, Neonatal death |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Intrauterine growth retardation, Hypoglycemia, Neonatal death |
OMIM:618839 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Ataxia, External ophthalmoplegia, Ophthalmoparesis, Quadriceps muscle weakness, Shoulder girdle m... |
ORPHA:254892 |
| Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Hypoglycemia, Growth delay |
ORPHA:95619 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Muscle weakness, Hypoglycemia, Myopathy, Short stature, Abdominal wall m... |
ORPHA:109 |
| Immunodeficiency 10 |
|
Hypoglycemia, Myopathy |
OMIM:612783 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypoglycemia |
ORPHA:397590 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Short stature, Fasting hypoglycemia |
ORPHA:436174 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Proximal amyotrophy, Muscle fiber splitting, Proximal muscle weakness |
OMIM:606408 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Ophthalmoparesis, Lower limb muscle weakness, Episodic flaccid weakne... |
ORPHA:79102 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Intrauterine growth retardation, Ataxia, Flexion contracture, Neonatal hypoglycemia, ... |
OMIM:616271 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance |
OMIM:619173 |
| Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Myopathy, Delayed puberty, Short stature, Muscle ... |
OMIM:611881 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Ophthalmoparesis, Proximal amyotrophy, Type 2 muscle fiber atrophy, Fatigable weakness |
OMIM:159400 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:618838 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Generalized muscle weakness |
OMIM:619424 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Hypoglycemia, Inability to walk by childhood/adolescence, Torticollis, Athetosis, Choreoathetosis |
OMIM:620224 |
| Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hy... |
ORPHA:263455 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Muscle weakness, Hypoglycemia |
OMIM:611126 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Muscle weakness, Glycosuria, Hypoglycemia, Neonatal death |
OMIM:231680 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Hypoglycemia, Intrauterine growth retardation, Joint contracture |
OMIM:618005 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hypoglycemia |
ORPHA:5 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Hypoplasia of the musculature, Weakness of muscles of respiration, Sho... |
ORPHA:2020 |
| Basilicata-Akhtar Syndrome |
|
Camptodactyly, Neonatal hypoglycemia |
OMIM:301032 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Hypoglycemia, Intrauterine growth retardation, Short stature, Growth delay |
OMIM:608779 |
| Snakebite Envenomation |
|
Muscle fiber necrosis, Respiratory paralysis, Rhabdomyolysis |
ORPHA:449285 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia |
OMIM:261680 |
| Maple Syrup Urine Disease, Type Ia |
|
Hypoglycemia, Ataxia |
OMIM:248600 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Poor head control, Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death |
OMIM:300219 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Growth delay, Hypoglycemia |
OMIM:615453 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... |
ORPHA:769 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Severe postnatal growth retardation, Flexion contracture, Neonatal hypoglycemia |
ORPHA:35173 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Absent muscle fiber merosin, Inability to walk, Muscle fiber atrophy, Myositi... |
ORPHA:258 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hypoglycemia, Elbow flexion contracture, Increased muscle lipid content, Knee flexion contracture... |
OMIM:608836 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Muscle weakness, Hypoglycemia |
OMIM:251000 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Short stature, Diabetes mellitus, Glycosuria, Hypoglycemia |
OMIM:616026 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hypoketotic hypoglycemia, Growth delay |
OMIM:231530 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture |
OMIM:615368 |
| Reni Syndrome |
|
Hypoglycemia, Ataxia |
OMIM:617575 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Short stature, Hypoglycemic seizures, Neonatal hypoglycemia |
OMIM:262600 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hypoketotic hypoglycemia, Rhabdomyolysis, Muscle weakness, Myopathy |
ORPHA:157 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:604377 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Intrauterine growth retardation, Hypoketotic hypoglycemia, Proportionat... |
ORPHA:71212 |
| Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Hyperglycemia, Severe intrauterine growth retardation, Flexion contracture, Diabete... |
OMIM:609069 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia |
OMIM:240200 |
| 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 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Hypoglycemia |
OMIM:210210 |
| Silver-Russell Syndrome 1 |
|
