| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
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 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| 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, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness, Proximal muscle weakness |
OMIM:616231 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... |
OMIM:617030 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... |
OMIM:619477 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... |
OMIM:158600 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy, Distal muscle weakness |
OMIM:604454 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... |
OMIM:618940 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... |
OMIM:618848 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... |
ORPHA:457050 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness |
OMIM:147421 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, D... |
OMIM:164300 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Neck muscle weakness, Limb muscle weakness, Ragged-red musc... |
OMIM:500002 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Congestive heart failure, Muscl... |
OMIM:618654 |
| Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance, Muscle weakness |
OMIM:616304 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... |
ORPHA:178145 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... |
OMIM:609115 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers, Neck flexor weak... |
OMIM:616209 |
| Melkersson-Rosenthal Syndrome |
|
Facial edema, Facial palsy |
OMIM:155900 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
| Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... |
ORPHA:97240 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Foot dorsiflexo... |
ORPHA:603 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Proxi... |
OMIM:609524 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:611615 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Progr... |
ORPHA:399103 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... |
OMIM:610542 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... |
OMIM:614065 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... |
OMIM:160500 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy, Neck flex... |
OMIM:609273 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... |
OMIM:609283 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... |
ORPHA:2593 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Distal Myopathy With Anterior Tibial Onset |
|
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... |
ORPHA:178400 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... |
OMIM:608807 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| 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 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... |
OMIM:620068 |
| Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... |
OMIM:619042 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... |
OMIM:600334 |
| Myopathy, Myofibrillar, 4 |
|
Cardiomyopathy, Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnorma... |
OMIM:609452 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... |
OMIM:300696 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... |
ORPHA:171445 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... |
OMIM:254130 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, P... |
OMIM:613530 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Nemaline Myopathy 10 |
|
Nemaline bodies, Skeletal muscle atrophy, Congenital contracture, Neonatal death, Generalized mus... |
OMIM:616165 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Neck muscle weakness, Limb muscle weakness... |
OMIM:609285 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... |
OMIM:160150 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Progressive distal muscle weakness, Intrinsic han... |
ORPHA:399086 |
| 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 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Cardiomyopathy, Progressive distal muscle weakness, Multiple joint contracture... |
ORPHA:98911 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Bulbar palsy, ... |
OMIM:603511 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619363 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Abnormal muscle fiber morph... |
ORPHA:270 |
| Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Split hand... |
OMIM:610099 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... |
OMIM:300718 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Laing Early-Onset Distal Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... |
ORPHA:59135 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Oligohydramnios,... |
OMIM:618823 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy |
OMIM:609500 |
| Angioedema, Hereditary, 4 |
|
Facial edema, Laryngeal edema, Angioedema |
OMIM:619360 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... |
OMIM:614302 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... |
OMIM:620389 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:613204 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
| 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 Myopathy, Infantile, Transient |
|
Neck muscle weakness, Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied mus... |
OMIM:500009 |
| Congenital Myopathy 24 |
|
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, Talipes equinovarus, First deg... |
OMIM:617336 |
| Angioedema, Hereditary, 5 |
|
Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619361 |
| Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
OMIM:300559 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... |
OMIM:608340 |
| Nemaline Myopathy 2 |
|
Hand clenching, Increased variability in muscle fiber diameter, Limb muscle weakness, Generalized... |
OMIM:256030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation... |
OMIM:613205 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:620246 |
| Angioedema, Hereditary, 8 |
|
Facial edema, Edema of the dorsum of hands, Laryngeal edema, Angioedema |
OMIM:619367 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl... |
OMIM:616052 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle weakness |
OMIM:614807 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... |
OMIM:255160 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... |
ORPHA:34515 |
| Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird... |
ORPHA:263494 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Prog... |
OMIM:617070 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... |
ORPHA:663 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Ophthalmoparesis, Neck muscle weakness, Limb muscle weakness, Weakness of facial musculature, Gen... |
OMIM:608930 |
| Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
| Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Gowers sign, Intrauterine growth retardation, Oligohy... |
OMIM:255200 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red m... |
ORPHA:353327 |
| Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Slender finger, Increased endomysial connective t... |
ORPHA:75840 |
| Solar Urticaria |
|
Periorbital edema, Syncope, Edema, Angioedema |
ORPHA:97230 |
| Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... |
OMIM:620249 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... |
OMIM:601462 |
| Angioedema, Hereditary, 7 |
|
Facial edema, Angioedema |
OMIM:619366 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... |
OMIM:620542 |
| 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 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness |
ORPHA:309169 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... |
OMIM:160565 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Upper li... |
ORPHA:171442 |
| Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne... |
OMIM:619790 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Nemaline bodies, Late-onset distal muscle weakness, Dilated cardiomyopathy, Type 1 muscle fiber p... |
OMIM:161800 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred... |
OMIM:620161 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Muscle weakness, Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Muscle weakness, Respiratory insufficiency due... |
OMIM:300816 |
| Fountain Syndrome |
|
Facial edema, Broad distal phalanx of finger, Short palm |
OMIM:229120 |
| Myasthenic Syndrome, Congenital, 5 |
|
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Type 1 muscle fiber predominance, ... |
OMIM:603034 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Fatig... |
ORPHA:424107 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
| Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Respirator... |
OMIM:300580 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Ragged-red muscle fibers, Muscle weakness, Congestive heart failure |
OMIM:616794 |
| 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 |
| Bethlem Muscular Dystrophy |
|
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... |
ORPHA:610 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Muscular dystrophy, Increased endomysial connective tissue, Ophthalmoplegia, Respiratory insuffic... |
OMIM:607855 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy, Interosseus muscle atrophy, Distal lower limb muscle weakness, Fiber type... |
OMIM:619903 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:618138 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253700 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con... |
OMIM:615959 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Generalized muscle weakness, ... |
OMIM:255310 |
| Melkersson-Rosenthal Syndrome |
|
Periorbital edema, Macroglossia, Facial palsy, Edema |
ORPHA:2483 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... |
ORPHA:98902 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul... |
ORPHA:98913 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, External ophthalmoplegia, Proximal muscle weaknes... |
ORPHA:98905 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
| Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Camptodactyly of finger, Diaphragmatic weakness, ... |
OMIM:614399 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Sinus tachycardia, Lower limb muscle weakness, Fa... |
ORPHA:171881 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| 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 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs |
ORPHA:1878 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Clinodactyly, Scapular ... |
OMIM:181405 |
| Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Proximal muscle weakness, Talipes equin... |
OMIM:611588 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... |
OMIM:602450 |
| Central Core Disease |
|
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Talipes... |
ORPHA:597 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, In... |
ORPHA:324604 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Quadriceps musc... |
OMIM:620285 |
| Glycogen Storage Disease Xv |
|
Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventricular tachycardia, Scapular ... |
OMIM:613507 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Gow... |
OMIM:602541 |
| Meige Disease |
|
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion... |
ORPHA:90186 |
| Hypokalemic Periodic Paralysis |
|
Episodic flaccid weakness, Respiratory paralysis, Increased intramyocellular lipid droplets, Abno... |
ORPHA:681 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Periorbital edema, Gastrointestinal hemorrhage |
OMIM:142680 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Facial edema, Angioedema, Tongue edema, Abnormal capillary physiology, Laryngeal edema, Palpebral... |
ORPHA:100057 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Respiratory insufficiency due to... |
OMIM:609560 |
| American Trypanosomiasis |
|
Periorbital edema, Cardiomyopathy, Congestive heart failure, Arrhythmia, Myocarditis, Edema |
ORPHA:3386 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... |
OMIM:310300 |
| Angioedema, Hereditary, 1 |
|
Angioedema, Laryngeal edema, Intestinal edema, Periorbital edema, Pharyngeal edema, Muscle weakness |
OMIM:106100 |
| 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 |
| Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... |
ORPHA:206569 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Kearns-Sayre Syndrome |
|
Progressive external ophthalmoplegia, Third degree atrioventricular block, Skeletal muscle atroph... |
ORPHA:480 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
| Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Neck muscle weakness, Limb muscle we... |
OMIM:617258 |
| Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Atrioventricular block, Second d... |
OMIM:300257 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... |
ORPHA:596 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Periorbital edema, Brachydactyly, Clinodactyly |
OMIM:618048 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... |
ORPHA:254864 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Proximal muscle weakness, Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature |
OMIM:618416 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Intrinsic hand... |
ORPHA:329478 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... |
ORPHA:57 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Left ventricular h... |
OMIM:540000 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers |
OMIM:619024 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... |
ORPHA:169186 |
| Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Calf muscle hypertrophy... |
ORPHA:119 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... |
OMIM:617114 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Lymph node hypoplasia |
ORPHA:276 |
| Trichinellosis |
|
Facial edema, Periorbital edema, Muscle weakness, Ophthalmoplegia, Retinal hemorrhage, Facial pal... |
ORPHA:863 |
| Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio... |
OMIM:616843 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Periorbital edema, Joint contracture of the hand, Small hand, Umbilical hernia, Lymphedema, Cutan... |
OMIM:235510 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| 20Q11.2 Microduplication Syndrome |
|
Palpebral edema, Underdeveloped supraorbital ridges, Severe intrauterine growth retardation, Peri... |
ORPHA:363659 |
| Lacrimal Duct Defect |
|
Periorbital edema |
OMIM:149700 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:401768 |
| Idiopathic Congenital Hypothyroidism |
|
Facial edema, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia, Ma... |
ORPHA:95717 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
External ophthalmoplegia, Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red ... |
ORPHA:254886 |
| Lujo Hemorrhagic Fever |
|
Facial edema, Periorbital edema, Hypotension, Generalized edema, Shock, Cerebral edema, Bradycard... |
ORPHA:319213 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Progressive distal mu... |
ORPHA:397744 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, Axial muscle weakness, F... |
ORPHA:178148 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Neuraminidase Deficiency |
|
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Hydrops fetalis, Muscle weakness |
OMIM:256550 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ophthalmoparesis, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, ... |
ORPHA:1349 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... |
OMIM:252011 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98855 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased laxity of fingers, ... |
OMIM:254090 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Respiratory insufficiency due to muscle we... |
OMIM:613561 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... |
ORPHA:98853 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, A... |
ORPHA:600 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... |
OMIM:123320 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Splenomegaly |
OMIM:613179 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... |
OMIM:616470 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Ophthalmoparesis, Skeletal muscle atrophy, Lower limb muscle weakness, Ragged-red muscle fibers, ... |
OMIM:616479 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Periorbital edema, Pulmonary embolism, Edema |
ORPHA:567548 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Triceps weakness, Intrinsi... |
OMIM:619574 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98863 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Periorbital edema, Edema |
ORPHA:656 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Progr... |
ORPHA:352447 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Periorbital edema, Flexion contracture, Finger swelling |
OMIM:617591 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Arrhythmi... |
OMIM:615084 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy, Myopathy, Proximal musc... |
ORPHA:369840 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
| Waldenström Macroglobulinemia |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, ... |
ORPHA:33226 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Muscle f... |
OMIM:258450 |
| Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
| Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Cardiomyopathy, Congestiv... |
OMIM:616866 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Morgagni diaphragmatic hernia, Sandal gap, Umbilical hernia, Ascites, Posterolateral diaphragmati... |
OMIM:613177 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progres... |
OMIM:609286 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Angioedema, Cerebral ischemia, Rhabdomyolysis, Respira... |
ORPHA:449285 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
| Multiple Sulfatase Deficiency |
|
Periorbital edema, Broad thumb, Broad hallux |
OMIM:272200 |
| Dermatomyositis |
|
Vasculitis, Periorbital edema, Sinus tachycardia, Inflammatory myopathy, Proximal muscle weakness... |
ORPHA:221 |
| 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 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Progressi... |
OMIM:619518 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Oculopharyngodistal Myopathy 1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... |
OMIM:164310 |
| Hyperekplexia 2 |
|
Astigmatism, Exaggerated startle response |
OMIM:614619 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
| Facioscapulohumeral Dystrophy |
|
Palpebral edema, Skeletal muscle atrophy |
ORPHA:269 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema |
ORPHA:514 |
| Nasolacrimal Duct Cyst |
|
Periorbital edema |
ORPHA:141083 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Agammaglobulinemia, X-Linked |
|
Prostatitis, Lymph node hypoplasia |
OMIM:300755 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Juvenile Nasopharyngeal Angiofibroma |
|
Facial edema, Epistaxis |
ORPHA:289596 |
| Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, P... |
OMIM:248800 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Abn... |
OMIM:175700 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Neutral Lipid Storage Myopathy |
|
Rimmed vacuoles, Cardiomyopathy, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder ... |
ORPHA:98908 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... |
ORPHA:732 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Vasculitis, Periorbital edema, Pericarditis |
ORPHA:32960 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exter... |
OMIM:607459 |
| Zygomycosis |
|
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, External ophthalmoplegia... |
ORPHA:73263 |
| Familial Thyroid Dyshormonogenesis |
|
Facial edema, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia, Ma... |
ORPHA:95716 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Total ophthalmoplegia, L... |
OMIM:157640 |
| Congenital Myasthenic Syndrome |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Neck muscle weakness... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Neck muscle weakness... |
ORPHA:98914 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Polyhydr... |
OMIM:615368 |
| Granulomatosis With Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... |
ORPHA:900 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle weakness, Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis |
ORPHA:228302 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Ophthalmoparesis, Skeletal muscle atrophy, Abnormal muscle fiber morphology, Clinodactyly of the ... |
ORPHA:3068 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Facial edema, Short distal phalanx of finger, Intrauterine growth retardation, Talipes equinovaru... |
ORPHA:86822 |
| Angioedema, Hereditary, 3 |
|
Facial edema, Intestinal edema, Pharyngeal edema, Angioedema |
OMIM:610618 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Facial edema, Predominantly lower limb lymphedema, Genital edema, Edema of the dorsum of hands, P... |
ORPHA:568051 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers, Progressive extern... |
OMIM:530000 |
| Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
| Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema |
OMIM:153200 |
| Fountain Syndrome |
|
Facial edema, Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal meta... |
ORPHA:3219 |
| Williams Syndrome |
|
Genu valgum, Mitral regurgitation, Myopathy, Radioulnar synostosis, Periorbital edema, Hypertroph... |
ORPHA:904 |
| Thyrotoxic Periodic Paralysis |
|
Ophthalmoparesis, Second degree atrioventricular block, Lower limb muscle weakness, Palpitations,... |
ORPHA:79102 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Periorbital edema, Intrauterine growth retardation, Hydrops fetalis, Small vessel vasculitis |
OMIM:620376 |
| Igg4-Related Submandibular Gland Disease |
|
Periorbital edema, Xerostomia, Facial edema |
ORPHA:449432 |
| Lassa Fever |
|
Shock, Facial edema, Muscle weakness |
ORPHA:99824 |
| Igg4-Related Ophthalmic Disease |
|
Periorbital edema, Palpebral edema, Abnormality of the extraocular muscles |
ORPHA:449563 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cataract, Tremor, Exaggerated startle response |
OMIM:620327 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio... |
ORPHA:258 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Congenital contracture, Muscle fiber atrophy, Talipes equinovarus, Facia... |
ORPHA:168572 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Facial edema, Pulmonary embolism, Edema, Anasarca, Ascites, Pleural effusion, Palpebral edema, Hy... |
ORPHA:567546 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Sunct Syndrome |
|
Facial edema, Palpebral edema |
ORPHA:57145 |
| Hereditary Angioedema Type 1 |
|
Facial edema, Hypotension, Tongue edema, Laryngeal edema, Edema of the dorsum of hands, Intestina... |
ORPHA:100050 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe... |
ORPHA:93672 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Cardiomyopathy, Abnormality of the shoulder girdle musculature, Palpitations, In... |
ORPHA:565612 |
| Congenital Analbuminemia |
|
Facial edema, Oligohydramnios, Low pulse pressure, Edema, Pedal edema |
ORPHA:86816 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia, Ma... |
ORPHA:90674 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Rothmund-Thomson Syndrome Type 1 |
|
Facial edema, Patellar hypoplasia, Metaphyseal sclerosis, Patellar aplasia, Telangiectasia, Finge... |
ORPHA:221008 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Facial edema, Xerostomia, Abnormality of the extraocular muscles, Myositis, Generalized muscle we... |
ORPHA:79078 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Rothmund-Thomson Syndrome Type 2 |
|
Facial edema, Patellar hypoplasia, Metaphyseal sclerosis, Patellar aplasia, Aplasia/hypoplasia in... |
ORPHA:221016 |
| Rothmund-Thomson Syndrome |
|
Facial edema, Aplasia/Hypoplasia of the radius, Short thumb, Aplasia/Hypoplasia of the patella, M... |
ORPHA:2909 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cataract, Exaggerated startle response |
OMIM:253800 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Facial edema |
OMIM:618398 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Facial edema, Umbilical hernia, Short finger, Hand polydactyly, Delayed proximal femoral epiphyse... |
ORPHA:226307 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Tay-Sachs Disease |
|
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia |
ORPHA:845 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
| Acute Generalized Exanthematous Pustulosis |
|
Facial edema |
ORPHA:293173 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Exaggerated startle response |
OMIM:620423 |
| Chikungunya |
|
Facial edema, Epistaxis, Joint swelling, Raynaud phenomenon, Pedal edema |
ORPHA:324625 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Exaggerated startle response |
ORPHA:438213 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
