| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
| Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... |
OMIM:616199 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... |
OMIM:618655 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Weakness of facial musculature, Proximal muscle weakness, Shoulder girdl... |
OMIM:619477 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal muscle weakness, Distal amyotrophy, Deposit... |
OMIM:605820 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Scapular winging, Increased variability in muscle fiber diameter, R... |
ORPHA:602 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Scap... |
OMIM:617158 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Proximal muscle weakness, Achilles tend... |
OMIM:609200 |
| Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Weakness of facial musculat... |
OMIM:618940 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... |
ORPHA:399058 |
| Welander Distal Myopathy |
|
Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Inclusion Body Myositis |
|
Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness |
OMIM:147421 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
| Myopathy, Myofibrillar, 2 |
|
Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdl... |
OMIM:608810 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Distal muscle weakness, Inc... |
ORPHA:266 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Neck flexor weakness, In... |
ORPHA:457050 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, EMG: myopathic abnormalities, R... |
ORPHA:603 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Respiratory insufficiency due to muscle weakness, Distal upper limb muscle weakness, Proximal mus... |
OMIM:301075 |
| Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, Gowers sign, EMG: myopathic abnormalities, R... |
ORPHA:97240 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Proxi... |
OMIM:609524 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... |
ORPHA:178145 |
| Melkersson-Rosenthal Syndrome |
|
Facial palsy, Facial edema |
OMIM:155900 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy, Neck flexor weak... |
OMIM:616209 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Gowers sign, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakne... |
OMIM:254110 |
| Distal Nebulin Myopathy |
|
Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Weakness of ... |
ORPHA:399103 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormality of the lymph nodes |
OMIM:136580 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
| Cardiomyopathy, Dilated, 1X |
|
Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Increased l... |
OMIM:611615 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Progressive external ophthalmoplegia, Ragged-red musc... |
OMIM:609283 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Tibial Muscular Dystrophy |
|
Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myopathic abnorm... |
ORPHA:609 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness |
OMIM:614750 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy, Neck flexor weakness |
OMIM:609273 |
| Myopathy, Distal, 4 |
|
Proximal muscle weakness, Abnormality of the calf musculature, Muscle weakness, Distal upper limb... |
OMIM:614065 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
| Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Proximal muscle weakness, Toe extensor amyotrophy, Rimmed vacuol... |
OMIM:160500 |
| Vacuolar Neuromyopathy |
|
Distal muscle weakness, Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Neck flex... |
OMIM:601846 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... |
OMIM:609456 |
| Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
| Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... |
ORPHA:178400 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Scapular winging, Hand muscle atroph... |
OMIM:616852 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopa... |
OMIM:612937 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... |
OMIM:300717 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Abdominal wall muscle weakness, Muscle fiber splitting, Proximal muscle weakness, Scapular wingin... |
OMIM:618129 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers |
OMIM:159050 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Distal muscle weakness, Muscle fiber inclusion bodies, Proximal muscle weakness, Neck muscle weak... |
OMIM:605637 |
| Myopathy, Myofibrillar, 4 |
|
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Myofibrillar myopathy, Progre... |
OMIM:609452 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Palpitations, Increased variability ... |
ORPHA:488650 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Proximal muscle weakness, Skeletal muscle hypertrophy, EMG: myopathic abn... |
OMIM:300696 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Muscle weakness,... |
OMIM:617072 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal muscle weakness, Muscular dystrophy, Lower limb muscle weakness, Distal amyotrophy, Deposi... |
OMIM:254130 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal muscle weakness, Increased variability in muscle fiber diameter, Type 1 m... |
OMIM:619042 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Distal upper limb muscle weakness, Skeletal muscle hypertrophy, P... |
OMIM:619566 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Muscle weakness, Pro... |
OMIM:613530 |
| Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Proximal muscle weakness, Flexion contracture, EMG: myopathic a... |
OMIM:609284 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Type 1 muscle fib... |
OMIM:160150 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Distal muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles, Proximal muscle weakness, Skele... |
OMIM:617760 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Gowers sign, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:603511 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Progressive proximal muscle weakness, EMG: myopathic abnormalities, ... |
ORPHA:98911 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Gowers sign, Flexion contracture, Type 1 muscle fiber predomina... |
OMIM:609285 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmop... |
ORPHA:270 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Diaphragmatic weakness, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... |
OMIM:603689 |
| Nemaline Myopathy 7 |
|
Nemaline bodies, Gowers sign, Weakness of facial musculature, Minicore myopathy, Fatty replacemen... |
OMIM:610687 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, Pr... |
ORPHA:399086 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy |
OMIM:609500 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:300718 |
| Multiminicore Myopathy |
|
Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morphology, Proximal musc... |
ORPHA:598 |
| Nemaline Myopathy 2 |
|
Weakness of facial musculature, Increased variability in muscle fiber diameter, Neck flexor weakn... |
OMIM:256030 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Gowers sign, Calf muscle hypertrophy, Calf muscle pseudo... |
ORPHA:280333 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, Late-onset proximal muscle weakness, EMG: myopathic abnormalities,... |
OMIM:610099 |
| Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
| Myofibrillar Myopathy 11 |
|
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... |
OMIM:619178 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
| Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
| Nemaline Myopathy 10 |
|
Bulbar palsy, Flexion contracture, Polyhydramnios, Muscle weakness, Arthrogryposis multiplex cong... |
OMIM:616165 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Angioedema, Hereditary, 4 |
|
Angioedema, Laryngeal edema, Facial edema |
OMIM:619360 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Generalized mus... |
OMIM:611705 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... |
ORPHA:263494 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
| Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
OMIM:500009 |
| Myasthenic Syndrome, Congenital, 14 |
|
Gowers sign, Flexion contracture, Limb-girdle muscle weakness, Fatigable weakness, Ragged-red mus... |
OMIM:616228 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle atrophy, Progressive proximal muscle weakness, Pelvic girdle amyotrophy, Rim... |
OMIM:167320 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Muscle weakness, Respiratory insufficiency due... |
OMIM:300816 |
| Angioedema, Hereditary, 5 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619361 |
| Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Poor head control, Flexion contracture, Distal muscle weakness, Generalized weakness... |
ORPHA:353327 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fib... |
ORPHA:663 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Muscle weakness, ... |
OMIM:616052 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Intrinsic hand muscle atrophy, Diaphragmatic weakness, Type 2 muscle fiber atrophy, Hand muscle a... |
OMIM:601462 |
| Angioedema, Hereditary, 8 |
|
Angioedema, Laryngeal edema, Facial edema, Edema of the dorsum of hands |
OMIM:619367 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Gowers sign, Scapular winging, Type 1 muscle fiber predominance, Muscle weakness... |
OMIM:617336 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Proximal muscle weakness, Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrop... |
OMIM:255160 |
| Bethlem Myopathy 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Muscle weakness, Proximal mu... |
OMIM:616471 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Distal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fibers, Proximal ... |
OMIM:617070 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Muscl... |
OMIM:607855 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Gowers sign, Type 2 muscle fiber atrophy, Ophthalmoparesis, Arthrogryposis multiplex congenita, G... |
OMIM:608930 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Muscle weakness, Myopathy |
OMIM:545000 |
| Nemaline Myopathy 8 |
|
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Ophthalmoparesis, Polyhydramnios, Mu... |
OMIM:615348 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Increased endomysial connective tissue, Scapular winging, Increased variability in muscle fiber d... |
ORPHA:437572 |
| Myopathy, Centronuclear, 2 |
|
Respiratory insufficiency due to muscle weakness, Gowers sign, Flexion contracture, EMG: myopathi... |
OMIM:255200 |
| Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Palpitations, Increased variability in muscle fiber diameter, Muscular dys... |
OMIM:616812 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
| Nemaline Myopathy 3 |
|
Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Neck flexor weak... |
OMIM:161800 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, EMG: myopathic abn... |
ORPHA:424107 |
| Solar Urticaria |
|
Angioedema, Periorbital edema, Edema, Syncope |
ORPHA:97230 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively smaller than type 2 fi... |
OMIM:300580 |
| Angioedema, Hereditary, 7 |
|
Angioedema, Facial edema |
OMIM:619366 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Respiratory insufficiency due to muscle weakness, Flexion contracture, EMG: myop... |
ORPHA:171442 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Ragged-red muscle fibers, Muscle weakness, Congestive heart failure |
OMIM:616794 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, External ophthalmoplegia, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:255320 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... |
OMIM:619903 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Gowers sign, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased ... |
ORPHA:86812 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Progressive... |
OMIM:605355 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Gowers sign, Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy,... |
ORPHA:353 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
| Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... |
ORPHA:98902 |
| Bethlem Myopathy |
|
Multiple joint contractures, Quadriceps muscle weakness, Achilles tendon contracture, Flexion con... |
ORPHA:610 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Diaphragmatic weakness, Increased endomysial connective tissue, Abnormal muscle fibe... |
ORPHA:75840 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Gowers sign, Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hyp... |
OMIM:613157 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Gowers sign, Increased endomysial connective tissue, Flexion contracture, ... |
OMIM:253700 |
| Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Increased vari... |
ORPHA:98905 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Gowers sign, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Limb-girdle muscle weak... |
OMIM:613818 |
| Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Poor head control, Flexion contracture, Muscular dystroph... |
OMIM:602771 |
| Myasthenic Syndrome, Congenital, 5 |
|
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Fatigable weakness... |
OMIM:603034 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs... |
OMIM:618138 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Bulbar palsy, Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Proxim... |
OMIM:255310 |
| Melkersson-Rosenthal Syndrome |
|
Macroglossia, Facial palsy, Periorbital edema, Edema |
ORPHA:2483 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of neck muscles, Triceps weakness, EMG: myopathic abnormalities, Upper limb mu... |
ORPHA:98913 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Muscle weakness |
OMIM:614807 |
| Cap Myopathy |
|
Gowers sign, Abnormal muscle fiber morphology, Poor head control, Sinus tachycardia, Increased va... |
ORPHA:171881 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Proximal muscle weakness, Abnormal muscle fiber morphology, Weakness of facial m... |
ORPHA:1145 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Gowers sign, Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Arthrogryposis mu... |
OMIM:608931 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Muscle weakness, Centrally nucleated skeletal mu... |
OMIM:615422 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, Diaphragmatic weakness, Poor head control, EMG: myopathic abnormalities, D... |
OMIM:614399 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
| Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... |
ORPHA:171433 |
| Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
| Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Respiratory insufficiency due to muscle weakness, Flexion contr... |
ORPHA:171439 |
| Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Respiratory paralysis, Late-onset proximal muscle weakness, Inc... |
ORPHA:681 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Poor head control, Right ventricular hypertrop... |
ORPHA:324604 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, Respiratory insufficiency due to muscle weakness, Gowers sign, EMG: myopathic ab... |
OMIM:609560 |
| Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Respiratory ... |
ORPHA:597 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Fatigable weakness... |
OMIM:605809 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Gowers sign, Flexion contracture of finger, Increased endomysial connective tissue, Flexion contr... |
OMIM:618484 |
| Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... |
ORPHA:206569 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... |
OMIM:310300 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... |
ORPHA:352479 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Diaphragmatic weaknes... |
OMIM:181405 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Splenomegaly, Generalized lymphadenopathy, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
| Meige Disease |
|
Predominantly lower limb lymphedema, Facial edema, Edema of the dorsum of hands, Laryngeal edema,... |
ORPHA:90186 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Arthrogryposis-like hand anomaly, Distal muscle weakness, Diaphragmatic eventration, Foot dorsifl... |
OMIM:620011 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Ragged-red muscle fibers, Skeletal muscle atrophy, Progressi... |
ORPHA:480 |
| 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 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Neck muscle weakness, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory... |
OMIM:617066 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Arthrogryposis multiplex conge... |
OMIM:254210 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Periorbital edema |
OMIM:142680 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Fatigable weakness of swallowing muscles, Weakness of facial mus... |
ORPHA:596 |
| Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Angioedema, Laryngeal edema, Muscle weakness, Periorbital edema |
OMIM:106100 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... |
OMIM:613954 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
ORPHA:254864 |
| American Trypanosomiasis |
|
Arrhythmia, Myocarditis, Periorbital edema, Edema, Cardiomyopathy, Congestive heart failure |
ORPHA:3386 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Arrhythmia, Exercise-induced rhabdomyolysis, ... |
ORPHA:57 |
| Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Gowers sign, Mitral regurgitation, Scapular winging, Joint contracture of the 5t... |
OMIM:617258 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Angioedema, Laryngeal edema, Abnor... |
ORPHA:100057 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
| Fountain Syndrome |
|
Facial edema |
OMIM:229120 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Poor head control, EMG: myopathic abnormalities, Minicore myopathy, ... |
ORPHA:486815 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers |
OMIM:619024 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic gird... |
ORPHA:119 |
| Cataract 3, Multiple Types |
|
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract |
OMIM:601547 |
| Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Gowers sign, Left ventricular hypertrophy, Scapular winging, Ty... |
ORPHA:169186 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Ragged-red muscle fibers, Proximal ... |
ORPHA:254886 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Di... |
ORPHA:329478 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... |
ORPHA:401768 |
| Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
| Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Distal muscle weakness, Rimmed vacuoles, Increased variability in muscle fi... |
OMIM:606070 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
| Aniridia 2 |
|
Iris coloboma, Lens subluxation, Cataract, Aniridia |
OMIM:617141 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... |
OMIM:616470 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98855 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... |
ORPHA:397744 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
| Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98853 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... |
ORPHA:600 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Progressive external ophthalmoplegia, Ophthalmoparesis, Ragged-red muscle fibers, Dilated cardiom... |
ORPHA:1349 |
| Lacrimal Duct Defect |
|
Periorbital edema |
OMIM:149700 |
| Trichinellosis |
|
Facial edema, Retinal hemorrhage, Muscle weakness, Edema, Periorbital edema, Facial palsy, Ophtha... |
ORPHA:863 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Arrhythmia, Pro... |
ORPHA:352447 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Proximal muscle weakness, Limb-girdle muscular dystroph... |
ORPHA:369840 |
| Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, ... |
OMIM:616843 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Decreased cervical... |
ORPHA:98863 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Axial muscle weak... |
ORPHA:178148 |
| Neuraminidase Deficiency |
|
Facial edema, Hydrops fetalis, Muscle weakness, Ascites, Skeletal muscle atrophy, Cardiomyopathy |
OMIM:256550 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pol... |
OMIM:616867 |
| Typical Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... |
ORPHA:171436 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers, Generalized muscle weakness, Muscle weakness, Progressive external opht... |
OMIM:613662 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
EMG: myopathic abnormalities, Left ventricular hypertrophy, Heart murmur, Ragged-red muscle fiber... |
OMIM:615418 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Flexion con... |
OMIM:254090 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Splenomegaly |
OMIM:613179 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Periorbital edema |
OMIM:618048 |
| Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Facial edema, Macroglossia, Bradycardia |
ORPHA:95717 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Muscle fiber atrophy, Mi... |
OMIM:258450 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
| Lujo Hemorrhagic Fever |
|
Facial edema, Hypotension, Myocarditis, Shock, Muscle weakness, Periorbital edema, Subconjunctiva... |
ORPHA:319213 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, First dorsal interossei muscle weakness, Distal muscle weakness, F... |
OMIM:619574 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract |
OMIM:116800 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Ophthalmoparesis |
OMIM:500003 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Arrhythmia, Progressive external ophthalmoplegia, Progressive muscl... |
OMIM:609286 |
| Dermatomyositis |
|
Telangiectasia of the skin, Proximal muscle weakness, Sinus tachycardia, Arrhythmia, Myocarditis,... |
ORPHA:221 |
| 20Q11.2 Microduplication Syndrome |
|
Severe intrauterine growth retardation, Palpebral edema, Underdeveloped supraorbital ridges, Peri... |
ORPHA:363659 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Edema, Pulmonary embolism, Periorbital edema |
ORPHA:567548 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Weakness of muscles of respiration, EMG: myopathic abnormalities, Rimmed vacuoles, Increased vari... |
ORPHA:52430 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Periorbital edema, Edema |
ORPHA:656 |
| Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... |
ORPHA:171430 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Polyhydramnios, ... |
OMIM:619334 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Spina bifida occulta, Camptodactyly, Lymphedema, Pleural effusion,... |
OMIM:235510 |
| Snakebite Envenomation |
|
Muscle fiber necrosis, Respiratory paralysis, Intracranial hemorrhage, Tachycardia, Cardiogenic s... |
ORPHA:449285 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Flexion contracture, Myositis, Periorbital edema |
OMIM:617591 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... |
OMIM:616866 |
| Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Vasculitis, Pedal edema, Periorbital edema, Pleural effusion, Gastrointestina... |
ORPHA:33226 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
| Oculopharyngodistal Myopathy 1 |
|
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability... |
OMIM:164310 |
| Cataract 30, Multiple Types |
|
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract |
OMIM:116300 |
| Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Ophthalmoparesis, Lower limb hypertonia |
OMIM:610246 |
| King-Denborough Syndrome |
|
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... |
OMIM:619542 |
| Facioscapulohumeral Dystrophy |
|
Palpebral edema, Skeletal muscle atrophy |
ORPHA:269 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Nonimmune hydrops fetalis |
ORPHA:477774 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... |
OMIM:226670 |
| Synaptic Congenital Myasthenic Syndromes |
|
Hand muscle weakness, Poor head control, Right ventricular hypertrophy, Type 2 muscle fiber atrop... |
ORPHA:98915 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
| Genetic Recurrent Myoglobinuria |
|
Type 2 muscle fiber atrophy, Arrhythmia, Myositis, Lower limb muscle weakness, Abnormality of jaw... |
ORPHA:99845 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb muscle weakness, Lower limb hype... |
ORPHA:99013 |
| Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Prostatitis |
OMIM:300755 |
| Nasolacrimal Duct Cyst |
|
Periorbital edema |
ORPHA:141083 |
| Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema |
ORPHA:514 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Mitral regurgitation, Weakness of facial musculature, Increased variabilit... |
OMIM:607459 |
| Polymyositis |
|
Abnormal muscle fiber morphology, Arrhythmia, Vasculitis, Myocardial infarction, Abnormal atriove... |
ORPHA:732 |
| Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Gowers sign, Progressive proximal muscle weakness, Rimmed vacuoles, Pelvic ... |
ORPHA:98908 |
| Myotonic Dystrophy 2 |
|
Premature ventricular contraction, Weakness of facial musculature, Palpitations, Tachycardia, Typ... |
OMIM:602668 |
| Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
| Juvenile Nasopharyngeal Angiofibroma |
|
Facial edema, Epistaxis |
ORPHA:289596 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... |
OMIM:157640 |
| Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
| Lethal Congenital Contracture Syndrome 5 |
|
Flexion contracture, Retinal hemorrhage, Polyhydramnios, Centrally nucleated skeletal muscle fibe... |
OMIM:615368 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Rimmed vacuoles, Progressive muscle weakness, Centrally nucleated skeletal m... |
OMIM:248800 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism |
OMIM:614619 |
| Congenital Myasthenic Syndrome |
|
Muscle fiber atrophy, Poor head control, EMG: myopathic abnormalities, Limb-girdle muscle weaknes... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Muscle fiber atrophy, Poor head control, EMG: myopathic abnormalities, Limb-girdle muscle weaknes... |
ORPHA:98914 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Periorbital edema, Myositis, Vasculitis |
ORPHA:32960 |
| Multiple Sulfatase Deficiency |
|
Periorbital edema |
OMIM:272200 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Restrictive cardiomyopathy, Mitral regurgitation, ... |
OMIM:619424 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Rhabdomyolysis, Muscle fiber atrophy, Muscle weakness, Increased muscle lipid content |
ORPHA:228302 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Ophthalmoplegia |
OMIM:614924 |
| Cataract 33, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
| Familial Thyroid Dyshormonogenesis |
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Umbilical hernia, Facial edema, Macroglossia, Bradycardia |
ORPHA:95716 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy, Ophthalmoparesis |
ORPHA:3068 |
| Juvenile Amyotrophic Lateral Sclerosis |
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Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joint contracture, Retrocollis, Di... |
ORPHA:300605 |
| Zygomycosis |
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Melena, Periorbital fullness, Hematemesis, Myocarditis, Hematochezia, Periorbital edema, Pleural ... |
ORPHA:73263 |
| Kearns-Sayre Syndrome |
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Arrhythmia, Progressive external ophthalmoplegia, Third degree atrioventricular block, Ragged-red... |
OMIM:530000 |
| Greig Cephalopolysyndactyly Syndrome |
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Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand, Umbilical ... |
OMIM:175700 |
| Lymphatic Malformation 7 |
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Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
| Granulomatosis With Polyangiitis |
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Angina pectoris, Recurrent intrapulmonary hemorrhage, Arrhythmia, Vasculitis, Cerebral ischemia, ... |
ORPHA:900 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Abnormality of the extraocular muscles, Distal muscle weakness, Ophthalmoparesis, Foot dorsiflexo... |
ORPHA:298 |
| Myasthenia, Limb-Girdle, Autoimmune |
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Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Proximal amyotrophy |
OMIM:159400 |
| Rare Cutaneous Lupus Erythematosus |
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Telangiectasia of the skin, Periorbital edema, Facial edema, Nail bed telangiectasia |
ORPHA:535 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Polyhydramnios, Lymphedema, Facial edema, Edema |
OMIM:618154 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
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Periorbital edema, Umbilical hernia |
OMIM:613177 |
| Lipodystrophy, Congenital Generalized, Type 4 |
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Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... |
OMIM:613327 |
| Hypotonia-Cystinuria Syndrome |
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Ragged-red muscle fibers, Facial palsy, Muscle weakness |
OMIM:606407 |
| Ehlers-Danlos Syndrome, Classic-Like |
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Proximal muscle weakness, Muscle fiber splitting, Proximal amyotrophy |
OMIM:606408 |
| Angioedema, Hereditary, 3 |
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Intestinal edema, Pharyngeal edema, Facial edema, Angioedema |
OMIM:610618 |
| Gjc2-Related Late-Onset Primary Lymphedema |
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Predominantly lower limb lymphedema, Facial edema, Genital edema, Edema of the dorsum of hands, P... |
ORPHA:568051 |
| Congenital Fiber-Type Disproportion Myopathy |
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Flexion contracture of finger, Weakness of facial musculature, Fatigable weakness of bulbar muscl... |
ORPHA:2020 |
| Thyrotoxic Periodic Paralysis |
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Abnormal muscle fiber morphology, Respiratory paralysis, Late-onset proximal muscle weakness, Pal... |
ORPHA:79102 |
| Cataract 32, Multiple Types |
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Anterior polar cataract |
OMIM:115650 |
| Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Increased variability in muscle fiber diameter, Ophthalmoparesis, Ragged-red muscle fibers, Dilat... |
ORPHA:70595 |
| Lymphangiectasia, Pulmonary, Congenital |
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Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... |
OMIM:265300 |
| Myotubular Myopathy With Abnormal Genital Development |
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Polyhydramnios, Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy |
OMIM:300219 |
| Pparg-Related Familial Partial Lipodystrophy |
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Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber ... |
ORPHA:79083 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Muscle fiber atrophy, Flexion contracture, Absent muscle fiber merosin, Macroglossia, Muscular dy... |
ORPHA:258 |
| Overlap Myositis |
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Distal lower limb muscle weakness, Raynaud phenomenon, Perifascicular muscle fiber atrophy, Proxi... |
ORPHA:206572 |
| Lymphatic Malformation 5 |
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Predominantly lower limb lymphedema, Facial edema |
OMIM:153200 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Intrauterine growth retardation, Polyhydramnios, Facial edema, Arthrogryposis multiplex congenita |
ORPHA:86822 |
| Igg4-Related Submandibular Gland Disease |
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Xerostomia, Facial edema, Periorbital edema |
ORPHA:449432 |
| Igg4-Related Ophthalmic Disease |
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Palpebral edema, Abnormality of the extraocular muscles, Periorbital edema |
ORPHA:449563 |
| Williams Syndrome |
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Macroglossia, Pulmonic stenosis, Mitral regurgitation, Sudden cardiac death, Cerebral ischemia, R... |
ORPHA:904 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
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Facial diplegia, External ophthalmoplegia, EMG: myopathic abnormalities, Palpitations, Facial pal... |
ORPHA:254892 |
| Native American Myopathy |
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Muscle fiber atrophy, Facial hemangioma, Abnormality of skeletal muscle fiber size, Camptodactyly... |
ORPHA:168572 |
| Lassa Fever |
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Shock, Facial edema, Muscle weakness |
ORPHA:99824 |
| Familial Partial Lipodystrophy, Dunnigan Type |
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Skeletal muscle hypertrophy, Abnormality of skeletal muscle fiber size, Hypertrophic cardiomyopat... |
ORPHA:2348 |
| Coenzyme Q10 Deficiency, Primary, 1 |
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Progressive muscle weakness, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Decreased lev... |
OMIM:607426 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Edema, Pleural effusion... |
ORPHA:567546 |
| Neuromuscular Oculoauditory Syndrome |
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Muscle fiber necrosis, Poor head control, EMG: myopathic abnormalities, Calf muscle hypertrophy, ... |
OMIM:618733 |
| Triglyceride Deposit Cardiomyovasculopathy |
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Angina pectoris, Abnormality of the shoulder girdle musculature, Abnormality of the calf musculat... |
ORPHA:565612 |
| Sunct Syndrome |
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Palpebral edema, Facial edema |
ORPHA:57145 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Muscle fiber atrophy, EMG: myopathic abnormalities, Wrist drop, Limb muscle weakness, Arterial ru... |
ORPHA:1900 |
| Hereditary Angioedema Type 1 |
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Intestinal edema, Pharyngeal edema, Facial edema, Tongue edema, Hypotension, Edema of the dorsum ... |
ORPHA:100050 |
| Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Rhabdomyolysis, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Muscle weakness |
OMIM:124000 |
| Fountain Syndrome |
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Spina bifida, Facial edema, Spina bifida occulta |
ORPHA:3219 |
| Congenital Analbuminemia |
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Facial edema, Low pulse pressure, Pedal edema, Edema, Oligohydramnios |
ORPHA:86816 |
| Cataract 23, Multiple Types |
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Lamellar cataract |
OMIM:610425 |
| Glycogen Storage Disease Xii |
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Increased variability in muscle fiber diameter, Muscle weakness, Muscle fiber splitting, Myopathy |
OMIM:611881 |
| Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
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Umbilical hernia, Facial edema, Macroglossia, Bradycardia |
ORPHA:90674 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
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Periorbital fullness, Facial edema, Abnormality of the extraocular muscles, Xerostomia, Palpebral... |
ORPHA:79078 |
| Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Melas |
|
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
ORPHA:550 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
| Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
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Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Distal muscle weakness, Ophthalmoparesis, Progressive external ophthalmoplegia, Distal amyotrophy... |
OMIM:603041 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Poor head control, Concentric hypertrophic cardiomyopathy, Increased intramyocellular lipid dropl... |
OMIM:252010 |
| Mitochondrial Dna-Associated Leigh Syndrome |
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Ophthalmoparesis, Ragged-red muscle fibers, Dilated cardiomyopathy, Cardiac conduction abnormalit... |
ORPHA:255210 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Facial edema |
OMIM:618398 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cataract, Exaggerated startle response |
OMIM:253800 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
| Rothmund-Thomson Syndrome |
|
Calcinosis, Telangiectasia of the skin, Facial edema |
ORPHA:2909 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
| Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Telangiectasia, Facial edema |
ORPHA:221008 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Flexion contracture, Increased variability in muscle fiber diameter, Increased intramyocellular l... |
ORPHA:17 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Umbilical hernia, Facial edema, Macroglossia, Bradycardia |
ORPHA:226307 |
| Tay-Sachs Disease |
|
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia |
ORPHA:845 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Facial edema |
ORPHA:221016 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Chikungunya |
|
Joint swelling, Facial edema, Raynaud phenomenon, Pedal edema, Epistaxis |
ORPHA:324625 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Singleton-Merten Syndrome 1 |
|
Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Muscle weakness, Pleural effusion, C... |
OMIM:182250 |
| Choreoacanthocytosis |
|
Muscle fiber atrophy, Distal muscle weakness, Distal amyotrophy, Dilated cardiomyopathy, Peroneal... |
ORPHA:2388 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
