Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
Miyoshi Muscular Dystrophy 1 |
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Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... |
OMIM:254130 |
Myopathy, Sarcoplasmic Body |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
Myopathy, Distal, With Rimmed Vacuoles |
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Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Rhabdomyolysis, Susceptibility To, 1 |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... |
OMIM:620235 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
Exercise Intolerance, Riboflavin-Responsive |
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Ragged-red muscle fibers |
OMIM:616839 |
Polyglucosan Body Myopathy 2 |
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Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
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Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:601846 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
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Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
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Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... |
OMIM:254110 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... |
OMIM:608807 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
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Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... |
OMIM:618848 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ... |
OMIM:253601 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
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Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:619733 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
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Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:613204 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
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Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati... |
OMIM:604286 |
Miyoshi Muscular Dystrophy 3 |
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Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Quadriceps muscle ... |
OMIM:613319 |
Myopathy, Distal, Tateyama Type |
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Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... |
OMIM:614321 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
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Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Elevated circu... |
OMIM:608423 |
Myopathy, Centronuclear, 4 |
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Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Centrally n... |
OMIM:614807 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
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Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
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Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:618129 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
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Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Calf... |
OMIM:611307 |
Spinal Muscular Atrophy, Type Iv |
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Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Myopathy, Distal, 5 |
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Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Myopathy, Distal, 3 |
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Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
Tibial Muscular Dystrophy, Tardive |
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EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Tubular Aggregate Myopathy |
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Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Nonaka Myopathy |
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Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... |
OMIM:605820 |
Welander Distal Myopathy |
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Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
Inclusion Body Myositis |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
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Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
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Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Ankl... |
OMIM:613818 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
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Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Tibial Muscular Dystrophy |
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Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Muscular Dystrophy, Progressive Pectorodorsal |
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Scapular winging, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concentra... |
OMIM:310095 |
Myopathy, Vacuolar, With Casq1 Aggregates |
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Elevated circulating creatine kinase concentration, Muscle fiber calsequestrin 1-containing inclu... |
OMIM:616231 |
Congenital Myopathy 18 |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
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Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
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Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Calf... |
ORPHA:34515 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
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Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
Gne Myopathy |
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Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
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Limb-girdle muscle weakness, Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:616094 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
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Scapular winging, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Calf m... |
OMIM:601287 |
Myopathy, Centronuclear, 1 |
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Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
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Elevated circulating creatine kinase concentration, Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
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Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb... |
OMIM:609308 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
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Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... |
OMIM:603511 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
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Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Dpm3-Cdg |
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Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Elevated creatine kin... |
ORPHA:263494 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
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Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
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Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Myasthenic Syndrome, Congenital, 14 |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Muscular Dystrophy, Congenital, 1B |
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Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Ge... |
OMIM:604801 |
Oculopharyngodistal Myopathy 2 |
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Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... |
OMIM:619566 |
Cardiomyopathy, Dilated, 3B |
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Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
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Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
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Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra... |
OMIM:617072 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
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Skeletal muscle atrophy, Flexion contracture, Elevated circulating creatine kinase concentration,... |
OMIM:613723 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
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Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:613152 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
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Distal amyotrophy, Mildly elevated creatine kinase, Fiber type grouping |
OMIM:614369 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
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Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Elevated circulating crea... |
ORPHA:267 |
Myopathy, Scapulohumeroperoneal |
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Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
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Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... |
OMIM:158901 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
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Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:613158 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
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Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype... |
OMIM:613157 |
Hereditary Myopathy With Early Respiratory Failure |
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Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... |
ORPHA:178464 |
Carnitine Deficiency, Myopathic |
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Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
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Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Elevated circulating creati... |
OMIM:615352 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
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Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne... |
OMIM:181400 |
Amyotrophic Lateral Sclerosis 20 |
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Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Myofibrillar Myopathy 11 |
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Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
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Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Macroglossia, Calf m... |
OMIM:616827 |
Myopathy, Myofibrillar, 5 |
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Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... |
OMIM:609524 |
Distal Myopathy With Anterior Tibial Onset |
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Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
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Scapular winging, Myositis, Facial palsy, Elevated circulating creatine kinase concentration, Fle... |
OMIM:253600 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L... |
ORPHA:86812 |
Myopathy, Myofibrillar, 2 |
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Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... |
OMIM:608810 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
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Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
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Proximal muscle weakness in lower limbs, Myopathy, Elevated circulating creatine kinase concentra... |
ORPHA:1878 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Elevated circulating cr... |
OMIM:181350 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Myopathy, Myofibrillar, 3 |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Distal amyotroph... |
OMIM:609200 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Ragged-red muscle fibers, Proximal muscle weakness in lower limbs, Facial palsy, Elevated circula... |
OMIM:616209 |
Distal Myopathy, Welander Type |
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Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Muscular Dystrophy, Becker Type |
|
Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Muscular dystr... |
OMIM:300376 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... |
ORPHA:266 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620138 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increased variabilit... |
OMIM:611615 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration |
OMIM:609500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Eleva... |
OMIM:607855 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
Congenital Myopathy 5 With Cardiomyopathy |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I... |
OMIM:611705 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... |
OMIM:300717 |
Creatine Phosphokinase, Elevated Serum |
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Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... |
OMIM:123320 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu... |
OMIM:616471 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Ankle con... |
OMIM:620386 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Calf muscle pseudohypertrophy, Scapular winging, Elevated circulating creatine kinase concentrati... |
ORPHA:62 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb ... |
OMIM:500002 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ... |
OMIM:611588 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... |
ORPHA:488650 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Spondylolisthesis, Rimmed v... |
ORPHA:270 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Scapulope... |
OMIM:613205 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy |
OMIM:253590 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... |
OMIM:618484 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:309930 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Hereditary Continuous Muscle Fiber Activity |
|
Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... |
ORPHA:972 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Congenital muscular dystrophy, Elevated circulating creatine kinase concentration, Muscular dystr... |
OMIM:613151 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated circulating creatine kinase concentration, Myopathy, Limb-girdle muscular dystrophy, Inc... |
OMIM:612937 |
Myopathy, Tubular Aggregate, 1 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:613869 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Reduced muscle... |
ORPHA:280333 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300696 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... |
OMIM:300718 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, El... |
OMIM:608840 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis |
OMIM:618323 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Elevated circulating creatine kinase con... |
OMIM:158900 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Neonatal death, Weakness of facial musculature, I... |
OMIM:620265 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... |
OMIM:616924 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Musc... |
OMIM:615350 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... |
OMIM:617069 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Myopathy, Muscular dystrophy, I... |
OMIM:602541 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... |
ORPHA:486815 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Scoliosis, Type 1 muscle... |
ORPHA:424107 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... |
ORPHA:97244 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Gene... |
OMIM:615351 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Mildly ele... |
ORPHA:401768 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentration, Centrally nuclea... |
OMIM:255160 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee flexion contract... |
OMIM:610687 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... |
OMIM:255200 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg... |
ORPHA:276435 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... |
OMIM:603689 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
OMIM:619473 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Macrogloss... |
OMIM:613155 |
Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Elevated circulating creatine kinase concentrat... |
ORPHA:309169 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after dental extraction, Intracranial hemorrhage... |
OMIM:227500 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy, Scoliosis |
ORPHA:50817 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Abnormal circulating creatine kinase concentrati... |
OMIM:615959 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... |
OMIM:619790 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Scoliosis, Typ... |
OMIM:605637 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... |
OMIM:618138 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Mildly elevated ... |
ORPHA:399086 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:616052 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Elevated circulating creatine kinase c... |
OMIM:160500 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... |
ORPHA:171442 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Elevated circulating creatine kinase... |
OMIM:619518 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, Scoliosis, EMG: myopathic abn... |
OMIM:609284 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... |
OMIM:167320 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Myop... |
OMIM:615980 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Knee flexion ... |
OMIM:612954 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Centrally nucleated skeletal muscle fibers, Tho... |
OMIM:619542 |
Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating c... |
ORPHA:610 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness |
OMIM:611225 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... |
ORPHA:97240 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Distal Myotilinopathy |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Distal amyotroph... |
ORPHA:98911 |
Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... |
OMIM:606070 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ... |
OMIM:603034 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am... |
ORPHA:399081 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio... |
OMIM:300559 |
Moderate Multiminicore Disease With Hand Involvement |
|
Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Increased variability in muscle fiber diameter,... |
OMIM:613752 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo... |
OMIM:619897 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recu... |
ORPHA:36382 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... |
OMIM:619216 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Elevated circulating creatine kinase concentration, Ce... |
OMIM:248800 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... |
OMIM:255310 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Abnor... |
ORPHA:171445 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:617258 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber ... |
ORPHA:75840 |
Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy |
OMIM:610542 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Skeletal m... |
OMIM:613156 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine ... |
OMIM:617070 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Abnormal toe morphology, Progressive distal muscular atrophy, Distal lower limb muscle weakness, ... |
ORPHA:459033 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy, Scoliosis, Hyperlordosis |
ORPHA:408 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
Central Core Disease |
|
Multiple joint contractures, Kyphoscoliosis, Myopathy, Type 1 muscle fiber predominance, Pelvic g... |
ORPHA:597 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy, Scoliosis |
OMIM:255100 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... |
OMIM:608340 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Elevated circulating creatine kinase concentration, Facial palsy, Ragge... |
OMIM:500009 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... |
ORPHA:353 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elbow contracture, Facial palsy, Elevated circulating creatine kinase co... |
OMIM:606612 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... |
ORPHA:169189 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Sternocleidomastoid amyotrophy, Thenar mu... |
OMIM:256030 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after dental extraction, Prolonged bleeding foll... |
ORPHA:325 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... |
OMIM:613954 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E... |
OMIM:609452 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... |
OMIM:310300 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Elevated circulating creatine kinase concentration, Camptodactyly of finger, Increa... |
OMIM:614399 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ... |
ORPHA:272 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Pelvic gir... |
ORPHA:119 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Flexion contr... |
OMIM:254090 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Elevated circulating creatine kinase concentration, ... |
OMIM:615368 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long... |
ORPHA:169186 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... |
ORPHA:79 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele... |
OMIM:620249 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myopathy, Abnormal circulating creatine kinase concentration, Limb-girdle muscular dystrophy, Mus... |
ORPHA:369840 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-... |
ORPHA:353327 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis |
ORPHA:2598 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Nemaline bodies |
OMIM:618246 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Proximal muscle weaknes... |
ORPHA:352479 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Hip contracture, Epidural hemorrhage, Abnormal bleeding, Prolonged b... |
ORPHA:169805 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma... |
ORPHA:559 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness |
OMIM:617087 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Scoliosis, EMG: myo... |
OMIM:618524 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy, Hyperlordosis |
ORPHA:352470 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged bleeding after dental extrac... |
ORPHA:98879 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle lipid content, Generaliz... |
ORPHA:171439 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration |
OMIM:619024 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Elevated circulatin... |
OMIM:617114 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... |
ORPHA:324604 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Kyphosis, Flexion contracture, Myopathy |
OMIM:618237 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e... |
OMIM:540000 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Prolonged bleeding after dental extraction, Prolonged bleeding af... |
ORPHA:331 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbing of fingers, T... |
OMIM:619574 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... |
ORPHA:98855 |
Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies |
OMIM:615348 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas... |
ORPHA:178148 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:615181 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ... |
ORPHA:328 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m... |
OMIM:619334 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ... |
ORPHA:206559 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy |
ORPHA:157973 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Flexion contracture, Myopathy... |
OMIM:301830 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Short neck, ... |
ORPHA:98863 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Abnormal circulating creatine kinase concentration, Talipes equin... |
OMIM:617336 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... |
ORPHA:326 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy, Kyphoscoliosis |
ORPHA:300179 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fibers, Hyp... |
OMIM:618416 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Increased variability in muscle fiber diameter |
OMIM:614096 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hyperalaninemia, Left ventricular noncompaction, Increased variability in muscle fiber diameter, ... |
OMIM:617228 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial he... |
ORPHA:449285 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... |
ORPHA:98853 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis |
ORPHA:101075 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Small ... |
OMIM:608799 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... |
ORPHA:2596 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy |
OMIM:605809 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after dental extr... |
ORPHA:465 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:613153 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
Muscular Dystrophy, Duchenne Type |
|
Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Achilles tendo... |
OMIM:310200 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy |
ORPHA:324416 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Typical Nemaline Myopathy |
|
Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-girdle muscle weakness, ... |
ORPHA:171436 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Macroglossia, Ca... |
OMIM:607155 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... |
OMIM:616538 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Ragged-red muscle fibers |
OMIM:616794 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Myopathy, Scoliosis |
OMIM:618234 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes... |
OMIM:609560 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Subdural hemorrhage, Prolonged bl... |
OMIM:202400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m... |
OMIM:615156 |
Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content, Cardiomyopathy |
OMIM:610717 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Type 1 muscle fiber predomina... |
OMIM:161800 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... |
OMIM:615290 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Congestive heart failure... |
ORPHA:206569 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Hyperkalemia, EMG: myopathic abnormalitie... |
ORPHA:57 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Myopathy, Cervical C2/C3 vertebral fusi... |
OMIM:616549 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis |
OMIM:617404 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers, Myopathy, Ge... |
ORPHA:352447 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:101078 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... |
ORPHA:2141 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Centrally nucleated ske... |
OMIM:613327 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Elevated circulating creatine kinase... |
OMIM:613154 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated creatine kinase |
ORPHA:663 |
X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Myopathy |
ORPHA:2349 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Third degree atrioventricular ... |
OMIM:601419 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia |
ORPHA:171719 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase, Increased intramyocellular lipid droplets,... |
ORPHA:681 |
Sneddon Syndrome |
|
Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke |
OMIM:182410 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement... |
ORPHA:329478 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy |
ORPHA:1344 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Neonatal death, Arthrogryposis mult... |
OMIM:618393 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:614100 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of lon... |
ORPHA:98913 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Flexion contracture, Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:615249 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co... |
OMIM:613150 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... |
OMIM:620011 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Elevated circulating crea... |
ORPHA:370959 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension, Arteriosclerosis, ... |
ORPHA:494424 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Cardiomyopathy |
ORPHA:26792 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... |
OMIM:620285 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Fetal Encasement Syndrome |
|
Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth |
OMIM:613630 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Increased muscle glycogen content, Hyperurice... |
OMIM:232800 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Myopathy, Scoliosis, Weakness of facial muscula... |
ORPHA:254875 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... |
OMIM:619040 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... |
ORPHA:254886 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Ragged... |
OMIM:258450 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:380 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding after surgery, Prolo... |
ORPHA:35909 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, General... |
ORPHA:52430 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Dpm1-Cdg |
|
Sandal gap, Elevated circulating creatine kinase concentration, Knee flexion contracture, Muscula... |
ORPHA:79322 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Calf muscl... |
ORPHA:565899 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
Glycogen Storage Disease Iii |
|
Myopathy, Distal amyotrophy, Cardiomyopathy |
OMIM:232400 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myop... |
OMIM:255125 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Proxi... |
OMIM:615084 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Muscular dystrophy |
OMIM:300200 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Highly elevated creatin... |
ORPHA:258 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:615524 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Abno... |
OMIM:601163 |
Fetal Gaucher Disease |
|
Flexion contracture, Intracranial hemorrhage, Stillbirth, Neonatal death, Arthrogryposis multiple... |
ORPHA:85212 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228302 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... |
OMIM:212350 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Abnormal circulating creatine kinase concentration, Muscular dystrophy, ... |
ORPHA:899 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Decreased muscle glycogen content, ST segment elevation, Ventricular tachy... |
ORPHA:263297 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Kyphosis, Scoliosis |
ORPHA:99014 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:620240 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma... |
ORPHA:99939 |
Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Facial diplegia, Scoliosis, Neonatal death, Arthro... |
OMIM:611890 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, My... |
ORPHA:99901 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... |
ORPHA:53719 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... |
OMIM:620080 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Stormorken Syndrome |
|
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Myopathy, Bruising su... |
OMIM:185070 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Skeletal muscle hypertrophy, Vertebral wedging, Firm muscles, Kyphoscoliosis |
OMIM:255710 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Limb-girdle muscular dystrophy, Scoliosis |
ORPHA:369847 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Facial myokymia |
OMIM:620007 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Hypertriglyceri... |
ORPHA:2348 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, S... |
ORPHA:79083 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... |
ORPHA:97339 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ... |
OMIM:166300 |
Acrocallosal Syndrome |
|
Postaxial hand polydactyly, Congenital diaphragmatic hernia, Triphalangeal thumb |
ORPHA:36 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... |
ORPHA:99013 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Generalized amyotrophy |
OMIM:613561 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Optic Atrophy 11 |
|
Facial diplegia, Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, M... |
OMIM:617302 |
Carcinoid Syndrome |
|
Tricuspid regurgitation, Right ventricular failure, Heart murmur, Myopathy, Palpitations, Facial ... |
ORPHA:100093 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Leber Optic Atrophy |
|
Myopathy, Arrhythmia, Central retinal vessel vascular tortuosity |
OMIM:535000 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... |
OMIM:500013 |
Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
OMIM:300653 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Familial Isolated Hypoparathyroidism |
|
Myopathy, Arrhythmia |
ORPHA:2238 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Myopathy, Cardiomyopathy |
ORPHA:1215 |
Spinocerebellar Ataxia With Epilepsy |
|
Myopathy |
ORPHA:254881 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Mildly elevated creatine kinase, Proximal amyotrophy |
OMIM:159400 |
Carnitine Deficiency, Systemic Primary |
|
Congestive heart failure, Myopathy, Mitral regurgitation, Cardiomyopathy, Reduced muscle carnitin... |
OMIM:212140 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circulating creatine ... |
OMIM:619424 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyop... |
OMIM:300257 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo... |
OMIM:252011 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Tapered finger, Type 1 muscle fiber predominance,... |
OMIM:612949 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Intramuscular hematoma, Oral cav... |
ORPHA:324636 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Isolated Anencephaly |
|
Congenital diaphragmatic hernia |
ORPHA:563609 |
Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
Glycogen Storage Disease Xii |
|
Elevated circulating creatine kinase concentration, Myopathy, Hyperbilirubinemia, Increased varia... |
OMIM:611881 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly |
OMIM:313420 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Myopathy |
ORPHA:166002 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Elevated circulati... |
OMIM:616479 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Muscular dystrophy |
ORPHA:300751 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Scoliosis, Abnormality of the cervical s... |
ORPHA:48431 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Upper limb hypertonia |
ORPHA:319199 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Myopathy, Increased variability in muscle fiber diameter |
OMIM:604377 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr... |
ORPHA:502423 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Lower limb hypertonia, Upper limb hypertonia |
OMIM:614898 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... |
ORPHA:682 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature |
OMIM:616239 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Subdural hemorrhage, A... |
OMIM:618291 |
Glycogen Storage Disease Xv |
|
Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:253800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Adducted thumb, Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:614643 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Flexion contracture, Abno... |
ORPHA:367 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Raynaud phenomenon, Abnormal skel... |
ORPHA:167635 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Flexion contracture, Elevated circulating creatine kinase concentration, Muscular dystrophy |
ORPHA:158684 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Patent ductus arteriosus, Flexion contracture |
OMIM:618658 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter |
OMIM:615595 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Weakness of facial musculature, Flexion contracture, Myopathy, Scoliosis |
OMIM:201470 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Foot dorsiflexor weakness, Scoliosis |
OMIM:618124 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Micromelia, Flexion contracture, Large hands, Muscular dystrophy, Aplasi... |
ORPHA:2671 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Congenital diaphragmatic hernia |
OMIM:300887 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia |
ORPHA:1166 |
Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Talip... |
ORPHA:168572 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy, Hypertension |
ORPHA:363400 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Elevated circulating creatine ... |
OMIM:617675 |
Bruck Syndrome 1 |
|
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... |
OMIM:259450 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Arrhythmia, Distal arthrogryposis, Myopathy |
ORPHA:42 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Ragged-red muscle fibers |
ORPHA:1349 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... |
ORPHA:98915 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... |
OMIM:300845 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... |
OMIM:232300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera... |
OMIM:618022 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Distal amy... |
OMIM:164310 |
Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
Schisis Association |
|
Congenital diaphragmatic hernia, Micromelia |
ORPHA:63862 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morp... |
ORPHA:3068 |
Glycerol Kinase Deficiency |
|
Myopathy, Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia |
OMIM:307030 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myopathy, Arrhythmia, Rhabdomyolysis, Cardiomyopathy |
ORPHA:228305 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1520 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... |
ORPHA:90307 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Spinal rigidity |
OMIM:620326 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis |
OMIM:614409 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia |
OMIM:609015 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis |
OMIM:609541 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
ORPHA:713 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Cardiomyopa... |
ORPHA:565612 |
Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
Mcdonough Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis |
ORPHA:2471 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Mcleod Syndrome |
|
Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Cardiomyopathy |
OMIM:300842 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia |
OMIM:606054 |
Chanarin-Dorfman Syndrome |
|
Myopathy |
OMIM:275630 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy |
OMIM:613077 |
Sialidosis Type 2 |
|
Kyphosis, Flexion contracture, Skeletal muscle atrophy |
ORPHA:87876 |
Adrenomyodystrophy |
|
Myopathy |
ORPHA:977 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overlapping fingers, Femoral bowing, Macroglossia, Talipes equinovarus, Increased va... |
OMIM:617022 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... |
ORPHA:2635 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Myopathy, Arte... |
ORPHA:109 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness, Bruising su... |
OMIM:112250 |
Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Neonatal death, Myopathy, Stillbirth, Cardiomyopathy |
OMIM:614922 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature |
ORPHA:98673 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility |
ORPHA:3226 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Short neck |
OMIM:616455 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Radioulnar... |
ORPHA:2461 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Xp22.13P22.2 Duplication Syndrome |
|
Small hand, 2-3 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger |
ORPHA:284180 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis |
OMIM:301900 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Arthrogryposis ... |
ORPHA:352490 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Scoliosis |
ORPHA:1358 |
Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Ragged-red muscle fibers, Hypocalcemia |
OMIM:606407 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:139466 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619699 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia... |
ORPHA:2311 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Scapular winging, Ragged-red muscle fibers, General... |
OMIM:600462 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Kyphosis, Distal arthrogryposis, Firm muscles, Scoliosis, Congenital finge... |
OMIM:108145 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Abnormal atrioventricular conduction, Supraventricular arrhythmia, P... |
ORPHA:280365 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertrophy, Scoliosis, C... |
OMIM:300280 |
Becker Nevus Syndrome |
|
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... |
OMIM:609286 |
Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia |
ORPHA:370079 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Elevated ci... |
ORPHA:206572 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2143 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Cardiac arrest, Cardiomyopathy |
OMIM:617713 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
Idiopathic Camptocormia |
|
Myositis, Abnormal intervertebral disk morphology, Fatty replacement of skeletal muscle, Abnormal... |
ORPHA:1320 |
Tonne-Kalscheuer Syndrome |
|
Broad thumb, Congenital diaphragmatic hernia, Brachydactyly |
OMIM:300978 |
Jansen-De Vries Syndrome |
|
Short foot, Central diaphragmatic hernia, Small hand, Brachydactyly |
OMIM:617450 |
Immunodeficiency 9 |
|
Myopathy |
OMIM:612782 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis |
ORPHA:2771 |
Cooper-Jabs Syndrome |
|
Proximal placement of thumb, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Flynn-Aird Syndrome |
|
Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:2047 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th... |
ORPHA:1120 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Contracture of the... |
OMIM:130060 |
Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Stillbirth |
OMIM:241500 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:615834 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Knee flexion contracture, Calf muscle hypertr... |
OMIM:618733 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Skeletal myopa... |
ORPHA:746 |
Crisponi Syndrome |
|
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis |
ORPHA:1545 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... |
OMIM:609128 |
Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... |
ORPHA:423 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph... |
OMIM:314580 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Cervical kyphosis, Kyphoscoliosis, Myopathy, Scoliosis, Arthrogryposis mul... |
ORPHA:2953 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Metaphyseal widening, Flexion contracture, Congenital diaphragmatic hernia, Ulnar deviation of th... |
OMIM:263210 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Limb hypertonia |
OMIM:618480 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities |
OMIM:618822 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized... |
ORPHA:98908 |
13Q12.3 Microdeletion Syndrome |
|
Hemihypotrophy of lower limb, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
Chylomicron Retention Disease |
|
Myopathy, EMG: myopathic abnormalities |
ORPHA:71 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Spinal rigidity, Flexion co... |
OMIM:254940 |
Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia |
ORPHA:95706 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Raynaud phenomenon, Flexion contracture, Vasculitis, Myopathy, Stroke, A... |
ORPHA:90289 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Petechiae, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Abnormality of the musculature of the lower limbs, Scoliosis |
ORPHA:464282 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities |
ORPHA:457365 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Myopathy, Cardiomyopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid dropl... |
ORPHA:98907 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Dilated ... |
ORPHA:254892 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Congenital diaphragmatic hernia |
ORPHA:2063 |
Aspergillosis |
|
Intracranial hemorrhage, Stroke |
ORPHA:1163 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Abnormal... |
ORPHA:94065 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis |
ORPHA:1883 |
Cystinosis |
|
Myopathy, Portal hypertension |
ORPHA:213 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Myopathy, Scoliosis, Hyperlordosis |
OMIM:162300 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Myopathy, Hypertension,... |
ORPHA:79086 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Congestive heart failure, Myopathy, Hypertension, Petechiae, Purpura |
ORPHA:85450 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia |
OMIM:606164 |
Polymyositis |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology |
ORPHA:732 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
1Q41Q42 Microdeletion Syndrome |
|
Talipes equinovarus, Congenital diaphragmatic hernia |
ORPHA:250999 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:128100 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage |
ORPHA:2481 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... |
ORPHA:2916 |
Mosaic Variegated Aneuploidy Syndrome |
|
Clinodactyly of the 5th finger, Muscular dystrophy, Rhabdomyosarcoma |
ORPHA:1052 |
Alpha-Mannosidosis |
|
Macroglossia, Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Kyphoscoliosis, Patent ductus arteriosus, Atlantoaxial instability, Myop... |
OMIM:614557 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:615287 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle weakness, Dis... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle weakness, Dis... |
ORPHA:98914 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Kyphosis, Scoliosis |
ORPHA:79107 |
Triosephosphate Isomerase Deficiency |
|
Kyphosis, Myopathy, Skeletal muscle atrophy |
OMIM:615512 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Subarachnoid hemorrhage |
OMIM:243700 |
Zaki Syndrome |
|
Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Ectrodactyly, Broad distal phalanx... |
OMIM:619648 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Xp21 Deletion Syndrome |
|
Calf muscle hypertrophy, Myopathy, Decreased muscle mass |
ORPHA:261476 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Upper-limb joint contracture, Distal amyotrophy, Lower-limb joint contra... |
ORPHA:300605 |
Pericardial And Diaphragmatic Defect |
|
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
ORPHA:2847 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... |
ORPHA:93314 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Skeletal muscle atrophy, Short humerus, Short femur, Flexion contracture,... |
ORPHA:17 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... |
ORPHA:340 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Elevated circulatin... |
OMIM:607426 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology |
ORPHA:886 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, Flexion contrac... |
OMIM:301041 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy |
OMIM:619743 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Congenital contracture, Congenital muscular dystrophy, Elevated circulating creatine kinase conce... |
OMIM:236670 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Hitchhiker thumb, 2-3 finger syndactyly, Clubbing of toes, S... |
ORPHA:2437 |
Sialidosis Type 1 |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Skeletal muscle atrophy |
ORPHA:812 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... |
ORPHA:3042 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Melas |
|
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated... |
ORPHA:550 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Congenital diaphragmatic hernia, Scoliosis |
ORPHA:2075 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Decreased muscle mass |
OMIM:616507 |
Sanjad-Sakati Syndrome |
|
Myopathy, Spinal canal stenosis |
ORPHA:2323 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:565 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Short neck, Elbow flexion contracture, Knee flexion contracture, Scoliosis, EMG:... |
ORPHA:371364 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities |
ORPHA:684 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Limb hypertonia |
ORPHA:500180 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Myopathy, Br... |
ORPHA:536545 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... |
ORPHA:99827 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Abnormally ossified vertebrae, Skeletal muscle atrophy, Shoulder flexion contrac... |
ORPHA:800 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee flexion c... |
OMIM:608836 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Lower limb muscle weakness, Quadriceps muscle atrophy |
ORPHA:199244 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju... |
ORPHA:464329 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Kyphosis, Macroglossia |
OMIM:300354 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of... |
ORPHA:1647 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Patent ductus arteriosus, Scoliosis |
OMIM:619797 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Joint contracture, Congenital diaphragmatic hernia |
OMIM:615919 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis |
ORPHA:137834 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Myopathy, Arrhythmia, Rhabdomyolysis, Cardiomyopathy |
ORPHA:157 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Persistent bleeding after trauma, Abnormal vertebral ... |
ORPHA:247245 |
Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1915 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Craniorachischisis |
|
Congenital diaphragmatic hernia, Sirenomelia |
ORPHA:63260 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Schaaf-Yang Syndrome |
|
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:615547 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Small hand,... |
ORPHA:1001 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:253280 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral bodies, Vertebral seg... |
ORPHA:1834 |
Mirage Syndrome |
|
Intracranial hemorrhage, Patent ductus arteriosus, Petechiae |
OMIM:617053 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Subdural hemorrhage |
OMIM:619714 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Rhabdomyolysi... |
ORPHA:79102 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Lower limb muscle weakness, Scoliosis, Skeletal muscle atrophy |
ORPHA:88644 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic ... |
ORPHA:628 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Patent ductus arteriosus, ... |
OMIM:609029 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Tarp Syndrome |
|
Neonatal death, Tetralogy of Fallot, Subdural hemorrhage |
OMIM:311900 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal bleeding, Decreased muscle mass, Arterial dissection, Congestive heart failure, Elbow fl... |
ORPHA:1900 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:261344 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Basilar Impression, Primary |
|
Limb muscle weakness, Kyphoscoliosis, Short neck |
OMIM:109500 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1692 |
Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:2617 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli... |
ORPHA:3260 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness |
OMIM:169400 |
Rett Syndrome |
|
Kyphosis, Scoliosis, Skeletal muscle atrophy |
OMIM:312750 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:219100 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2470 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Flexion contracture of toe, Camptodactyly of finger, Short neck |
ORPHA:3409 |
Intellectual Disability-Strabismus Syndrome |
|
Rocker bottom foot, Congenital diaphragmatic hernia, Achilles tendon contracture, Talipes equinov... |
ORPHA:363528 |
Seckel Syndrome 9 |
|
Talipes equinovarus, Congenital diaphragmatic hernia |
OMIM:616777 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Scoliosis, Camptodactyly, Jo... |
OMIM:248700 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis |
OMIM:211530 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Joint contracture, Scoliosis |
OMIM:615381 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
3-4 finger cutaneous syndactyly, Sandal gap, Talipes equinovarus, Congenital diaphragmatic hernia |
OMIM:612530 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Abnormality of muscle size, Facial hypotonia, Scoliosis |
ORPHA:364028 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Patent ductus arteriosus, Limb hypertonia |
OMIM:619909 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Cardiomyop... |
ORPHA:90324 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Scoliosis |
ORPHA:261144 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the distal interphalange... |
OMIM:607015 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Skeletal muscle atrophy |
OMIM:219080 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Congestive heart failure, Myopathy, Hypertr... |
ORPHA:506 |
Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
Hellp Syndrome |
|
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber lysosomes, Tho... |
ORPHA:365 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Stroke, Arrhythmia, EMG: myopathic abn... |
ORPHA:480864 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Congenital diaphragmatic hernia |
OMIM:222448 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ... |
ORPHA:93360 |
Congenital Myopathy 17 |
|
Diaphragmatic eventration, Distal arthrogryposis, Myopathy |
OMIM:618975 |
Arachnoid Cyst |
|
Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage |
ORPHA:2356 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplasia of the odon... |
OMIM:253220 |
Fucosidosis |
|
Kyphosis, Decreased muscle mass, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Stromme Syndrome |
|
Myopathy, Stillbirth |
OMIM:243605 |
Mucopolysaccharidosis Type 6 |
|
Macroglossia, Kyphosis, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Myopathy, Cardiomyopathy |
ORPHA:3463 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Short neck... |
OMIM:265000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Pentalogy Of Cantrell |
|
Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Congenital diaphragmatic... |
ORPHA:1335 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Congenital diaphragmatic hernia, Tapered finge... |
ORPHA:251071 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Camptodactyly, Clinodactyly of the 5... |
OMIM:617602 |
Baralle-Macken Syndrome |
|
Kyphosis |
OMIM:619255 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia |
OMIM:611812 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Patent ductus arteriosus, Myopathy, Mitral regurgitation, Varicose v... |
OMIM:612541 |
Emanuel Syndrome |
|
Sacral dimple, Multiple joint contractures, Congenital diaphragmatic hernia, Kyphoscoliosis, Pate... |
ORPHA:96170 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2181 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies, Skeletal muscle atrophy |
OMIM:219090 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Hand polydactyly, Congenital diaphragmatic hernia |
ORPHA:261197 |
Halperin-Birk Syndrome |
|
Flexion contracture, Talipes equinovarus, Congenital diaphragmatic hernia |
OMIM:618651 |
Shashi-Pena Syndrome |
|
Kyphosis, Patent ductus arteriosus, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypertonia |
OMIM:617190 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
3M Syndrome |
|
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis |
ORPHA:2616 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Neonatal death, Congenital diaphragmatic hernia |
OMIM:194080 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2409 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis |
ORPHA:1798 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Congenital diaphragmatic hernia, Short neck |
ORPHA:1780 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hallux valgus, Rhizomelia, Sandal gap, Spatulate thumbs, Congenital diaphragmatic hernia, Broad d... |
OMIM:245600 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Kyphosis, Patent ductus arteriosus, Aplasia/Hypoplasia of... |
ORPHA:354 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:313850 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Limb hypertonia |
ORPHA:90322 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Dpagt1-Cdg |
|
Prolonged QT interval, Flexion contracture, Stroke-like episode, Intracranial hemorrhage, Camptod... |
ORPHA:86309 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Patent ductus arteriosus, Scoliosi... |
OMIM:130720 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... |
ORPHA:740 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration, Congenital diaphragmatic hernia |
ORPHA:2260 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Intracranial hemorrhage, Patent ductus arteriosus, Interrupted aortic arch, Heart murmur |
ORPHA:163979 |
Vacterl/Vater Association |
|
Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Congenital diaphr... |
ORPHA:887 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Patent ductus arteriosus, Kyphosis, Scapular winging, Scoliosis |
OMIM:617061 |
Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Left ventricular hype... |
OMIM:242840 |
Alpha-Mannosidosis, Infantile Form |
|
Facial hypotonia, Short neck, Macroglossia, Platyspondyly, Myopathy |
ORPHA:309282 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage |
OMIM:616430 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:3191 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis |
OMIM:180870 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Stroke, Pulmonary arterial hyper... |
ORPHA:79282 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly |
ORPHA:88628 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities |
ORPHA:2549 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Kyphosis, Platyspondyly |
ORPHA:93274 |
Clark-Baraitser syndrome |
|
Kyphosis, Scoliosis |
OMIM:300602 |
Abetalipoproteinemia |
|
Abnormal bleeding, Congestive heart failure, Myopathy, Prolonged prothrombin time, Distal lower l... |
ORPHA:14 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... |
OMIM:203500 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:1969 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Scol... |
ORPHA:2215 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
19P13.12 Microdeletion Syndrome |
|
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis, Short neck |
ORPHA:254346 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
White-Sutton Syndrome |
|
Facial hypotonia, Broad thumb, Congenital diaphragmatic hernia, Brachydactyly |
OMIM:616364 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage |
ORPHA:79284 |
Medulloblastoma |
|
Cerebellar hemorrhage |
ORPHA:616 |
Mycophenolate Mofetil Embryopathy |
|
Foot polydactyly, Congenital diaphragmatic hernia, Short palm |
ORPHA:268249 |
Meningioma |
|
Facial palsy, Cerebral hemorrhage, Upper limb muscle weakness, Syncope, Lower limb muscle weakness |
ORPHA:2495 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Congenital diaphragmatic hernia, Split hand, Elbow flexio... |
OMIM:200980 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Upper limb muscle weakness, Hypertension, Dista... |
ORPHA:139417 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Atrial fibrillation, Aortic dissection, Thoracic aortic aneurysm, Sub... |
OMIM:613795 |
Microphthalmia, Syndromic 9 |
|
Neonatal death, Diaphragmatic eventration, Congenital diaphragmatic hernia |
OMIM:601186 |
Microform Holoprosencephaly |
|
EMG: myopathic abnormalities, Scoliosis |
ORPHA:280200 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Craniofrontonasal Syndrome |
|
Toe syndactyly, Broad hallux, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, 3-... |
OMIM:304110 |
Chromosome 15Q25 Deletion Syndrome |
|
Long fingers, Congenital diaphragmatic hernia |
OMIM:614294 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Kyphoscoliosis, Hyperlordosis, Hypoplasia of the musculature, Ankle flexion cont... |
ORPHA:2020 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Congenital diaphragmatic hernia, Micromelia |
OMIM:616546 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Caribbean Parkinsonism |
|
EMG: myopathic abnormalities, Orthostatic hypotension |
ORPHA:97355 |
Distal Triplication 15Q |
|
Kyphosis, Patent ductus arteriosus, Flexion contracture, Scoliosis, Camptodactyly |
ORPHA:314588 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Diastasis recti, Congenital diaphragm... |
ORPHA:2092 |
Arterial Tortuosity Syndrome |
|
Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:208050 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:251450 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Inflamm... |
ORPHA:221 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Short neck |
OMIM:608776 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Co... |
OMIM:154400 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Hydranencephaly |
|
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... |
ORPHA:2177 |
Perlman Syndrome |
|
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia |
OMIM:267000 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
Acute Liver Failure |
|
Abnormal bleeding, Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothro... |
ORPHA:90062 |
Trisomy 13 |
|
Kyphosis, Patent ductus arteriosus, Scoliosis |
ORPHA:3378 |
Coffin-Lowry Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Skeletal muscle atrophy |
ORPHA:192 |
Fryns Syndrome |
|
Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Short distal phalanx of finger |
ORPHA:2059 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage |
OMIM:613603 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, Macroglossia, Bico... |
OMIM:607014 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Elbow flexion contracture, Scoliosis |
OMIM:618493 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis |
ORPHA:582 |
Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... |
OMIM:253010 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short neck |
ORPHA:3082 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis |
ORPHA:3121 |
Trisomy 20P |
|
Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral s... |
ORPHA:261318 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Short distal phalanx of finger |
OMIM:614080 |
White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia |
ORPHA:468678 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Patent ductus arteriosus, Hypotrophy of the small hand... |
OMIM:610443 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Cerebral hemorrhage, Flexion contracture, Aortic root aneurysm, Aortic diss... |
ORPHA:666 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Camptodactyly of finger, Scoliosis |
OMIM:619951 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Kyphosis, Flexion contracture, Short neck |
OMIM:309900 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis |
OMIM:618443 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
Holt-Oram Syndrome |
|
Kyphosis, Patent ductus arteriosus, Scoliosis |
ORPHA:392 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, L... |
OMIM:619472 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... |
OMIM:175780 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Congenital diaph... |
ORPHA:2911 |
Iniencephaly |
|
Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Talipes equinovarus, Arthrogrypo... |
ORPHA:63259 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies |
OMIM:230500 |
X-Linked Intellectual Disability, Cabezas Type |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Short neck |
ORPHA:85293 |
Noonan Syndrome 14 |
|
Kyphosis, Scapular winging, Short neck |
OMIM:619745 |
Microphthalmia, Lenz Type |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:568 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Intraventricular hemorrhage, Cardiomyopathy, Pulmonic stenosis, Aortic aneurysm |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Intraventricular hemorrhage, Cardiomyopathy, Pulmonic stenosis, Aortic aneurysm |
ORPHA:363958 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li... |
OMIM:236680 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia |
ORPHA:420741 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Kyphosis, Hemivertebrae, Macroglossia, Scoliosis |
OMIM:301040 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Kyphosis, Patent ductus arteriosus, Spinal canal stenosis, Myopathy, Sco... |
ORPHA:1606 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Scoliosis |
OMIM:619557 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Micromelia, Proximal placement of thumb, Hypoplasia of the radiu... |
OMIM:122470 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Flexion contracture, Scoliosis |
ORPHA:500055 |
Weaver Syndrome |
|
Diastasis recti, Kyphosis, Patent ductus arteriosus, Scoliosis, Camptodactyly, Joint contracture ... |
OMIM:277590 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, Short foot, Congenital diaphragmati... |
OMIM:618454 |
3C Syndrome |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
ORPHA:7 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:2789 |
Aymé-Gripp Syndrome |
|
Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Radioulnar synostosis, Campt... |
ORPHA:1272 |
Trisomy 18 |
|
Deviation of finger, Postaxial hand polydactyly, Camptodactyly of finger, Congenital diaphragmati... |
ORPHA:3380 |
Williams Syndrome |
|
Myocardial infarction, Abnormal cerebral vascular morphology, Overriding aorta, Sudden cardiac de... |
ORPHA:904 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Contracture of the proximal interp... |
OMIM:618223 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis |
ORPHA:404440 |
Meacham Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:3097 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis |
ORPHA:702 |
2P15P16.1 Microdeletion Syndrome |
|
Kyphosis, Camptodactyly of finger, Facial palsy, Scoliosis |
ORPHA:261349 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis |
ORPHA:261222 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Neonatal death, Kyphosis, Platyspondyly, Lumbar hyperlordosis |
OMIM:616482 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Myopathy, Decreased muscle mass |
OMIM:234200 |
Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Vertebral clefting, Hemivertebrae, Abnormal form of the vertebra... |
ORPHA:2322 |
Limb Body Wall Complex |
|
Duplication of hand bones, Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Aplasi... |
ORPHA:2369 |
Diets-Jongmans Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618846 |
Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly, Facial palsy, Congenital diaphragmatic hernia |
OMIM:301022 |
Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Toe syndactyly, Short 2nd finger, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:373 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Distal Deletion 15Q |
|
Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Small hand, Genu valgum, Finger cl... |
ORPHA:1596 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Hypomimic face, Contractures of the large joints |
OMIM:617527 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Harrod Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2115 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia |
OMIM:309801 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Camptodactyly |
OMIM:619123 |
Cole-Carpenter Syndrome |
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Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Koolen-De Vries Syndrome |
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Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis |
ORPHA:96169 |
Jaberi-Elahi Syndrome |
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Kyphosis, Scoliosis |
OMIM:617988 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Abnormal form of the vertebral bodies, ... |
ORPHA:280 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Scapular winging |
OMIM:616914 |
Smith-Lemli-Opitz Syndrome |
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Finger syndactyly, Rhizomelia, Congenital diaphragmatic hernia, Proximal placement of thumb, Post... |
ORPHA:818 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Broad hallux, 1-2 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger, Small hand, Sh... |
OMIM:301044 |
Alexander Disease |
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Facial palsy, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
ORPHA:58 |
Pycnodysostosis |
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Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
ORPHA:763 |
Cystinosis, Nephropathic |
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Skeletal muscle atrophy, Myopathy |
OMIM:219800 |
Witteveen-Kolk Syndrome |
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Intracranial hemorrhage, Congenital diaphragmatic hernia, Contracture of the distal interphalange... |
OMIM:613406 |
Monosomy 9P |
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Abnormality of the tarsal bones, Postaxial hand polydactyly, Proximal placement of thumb, Congeni... |
ORPHA:261112 |
Robinow Syndrome, Autosomal Dominant 3 |
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Sacral dimple, Short neck, Kyphosis, Patent ductus arteriosus, Scoliosis, Camptodactyly |
OMIM:616894 |
Plaa-Associated Neurodevelopmental Disorder |
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Kyphosis, Limb hypertonia, Contractures of the large joints |
ORPHA:521426 |
Spondyloperipheral Dysplasia |
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Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Cole-Carpenter Syndrome 2 |
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Kyphosis, Platyspondyly |
OMIM:616294 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Contracture of ... |
ORPHA:2232 |
7Q11.23 Microduplication Syndrome |
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Sacral dimple, Congenital diaphragmatic hernia, Short neck, Patent ductus arteriosus, Hemivertebrae |
ORPHA:96121 |
Pagod Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:991 |
Choreoacanthocytosis |
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Muscle fiber atrophy, Myopathy, Distal amyotrophy, Peroneal muscle atrophy |
ORPHA:2388 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness |
ORPHA:171629 |
2Q31.1 Microdeletion Syndrome |
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Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:251014 |
Prader-Willi Syndrome |
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Kyphosis, Decreased muscle mass, Scoliosis |
OMIM:176270 |
Holoprosencephaly |
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Hyponatremia, Hand polydactyly, Congenital diaphragmatic hernia, Brachydactyly |
ORPHA:2162 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Kyphosis, Platyspondyly, Sclerotic vertebral body |
OMIM:618476 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Osteogenesis Imperfecta, Type Iv |
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Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia |
OMIM:273395 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro... |
OMIM:619194 |
C Syndrome |
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Toe syndactyly, Congenital diaphragmatic hernia, Micromelia, Aplasia/Hypoplasia of the abdominal ... |
ORPHA:1308 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Scoliosis |
OMIM:616449 |
Monosomy 9Q22.3 |
|
Kyphosis, Abnormality of the vertebral column, Rhabdomyosarcoma, Short neck |
ORPHA:77301 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:614437 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... |
OMIM:143095 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Congenital diaphragmatic hernia |
OMIM:617641 |
Magel2-Related Prader-Willi-Like Syndrome |
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Kyphosis, Flexion contracture, Scoliosis |
ORPHA:398069 |
Megalocornea-Intellectual Disability Syndrome |
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Kyphosis, Scoliosis |
ORPHA:2479 |
Cono-Spondylar Dysplasia |
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Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
Camurati-Engelmann Disease |
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Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Kyphosis, Abnormality of the vertebral colu... |
ORPHA:1328 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2745 |
Congenital Disorder Of Glycosylation, Type Ia |
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Kyphosis, Flexion contracture |
OMIM:212065 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
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Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis |
OMIM:618050 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
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Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis |
OMIM:300966 |
Micro Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2510 |
X-Linked Intellectual Disability, Snyder Type |
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Kyphosis, Decreased muscle mass, Kyphoscoliosis, Camptodactyly |
ORPHA:3063 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Ankle flexion contracture, Kyphosis, Patent ductus arteriosus, Scoliosis, Flexion contracture of ... |
ORPHA:464311 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Scoliosis |
ORPHA:464738 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Cowden Syndrome 5 |
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Kyphosis, Scoliosis |
OMIM:615108 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Knee flexion contracture |
OMIM:619708 |
Alstrom Syndrome |
|
Kyphosis, Scoliosis |
OMIM:203800 |
Cowden Syndrome 6 |
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Kyphosis, Scoliosis |
OMIM:615109 |
Frank-Ter Haar Syndrome |
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Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Camptodactyly |
OMIM:249420 |
Marshall-Smith Syndrome |
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Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Patent ductus a... |
OMIM:602535 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Multiple joint contractures, Kyphosis, Patent ductus arteriosus, Scoliosis, Abnormality of the ce... |
ORPHA:464306 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261250 |
Focal Dermal Hypoplasia |
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Short metacarpal, Toe syndactyly, Diastasis recti, Congenital diaphragmatic hernia, Postaxial han... |
OMIM:305600 |
Mucolipidosis Type Ii |
|
Hip contracture, Diastasis recti, Kyphosis, Knee flexion contracture, Left ventricular hypertrophy |
ORPHA:576 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
OMIM:600001 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis |
ORPHA:457359 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:476126 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Mgat2-Cdg |
|
Kyphosis, Patent ductus arteriosus, Scoliosis |
ORPHA:79329 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Congenital diaphragmatic hernia, Short foot, Carpal synostosis, Brachydactyly |
OMIM:157800 |
Aspartylglucosaminuria |
|
Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spo... |
OMIM:208400 |
Cowden Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:158350 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Elevated circulating alpha-fe... |
ORPHA:116 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphoscoliosis, Kyphosis, Patent ductus arteriosus, Left ventricular noncompaction, Scoliosis, Ri... |
OMIM:300967 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol... |
ORPHA:1507 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis |
ORPHA:536532 |
Cohen Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:193 |
Proteus Syndrome |
|
Decreased muscle mass, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Myofibrillar m... |
ORPHA:744 |
Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture |
ORPHA:77259 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, ... |
ORPHA:828 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
Atelis Syndrome 2 |
|
Patent ductus arteriosus, Kyphosis, Sacral dimple |
OMIM:620185 |
Spondyloenchondrodysplasia |
|
Kyphosis, Platyspondyly |
ORPHA:1855 |
Mend Syndrome |
|
Kyphosis, Sacral dimple, Limb hypertonia |
ORPHA:401973 |
Marfan Syndrome |
|
Kyphosis, Skeletal muscle atrophy, Scoliosis, Spondylolisthesis |
ORPHA:558 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Abnormal morphology of ulna, Congenital diaphragmatic hernia, Micromelia, Proxima... |
ORPHA:199 |
Coffin-Siris Syndrome 1 |
|
Sandal gap, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasi... |
OMIM:135900 |
Zttk Syndrome |
|
Kyphosis, Patent ductus arteriosus, Flexion contracture, Hemivertebrae, Scoliosis |
OMIM:617140 |
Hajdu-Cheney Syndrome |
|
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Patent ductus arteriosus, Scoliosis, Bico... |
ORPHA:955 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad toe, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Postaxial polydact... |
OMIM:312870 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2255 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2556 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis |
OMIM:239000 |
Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Congenital diaphragmatic hernia |
OMIM:618280 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Patent ductus arteriosus |
OMIM:153400 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Contractures of the large joints, Congenital contracture, Scol... |
ORPHA:191 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Kyphosis, Facial palsy, Scoliosis |
ORPHA:2658 |
Cowden Syndrome |
|
Macroglossia, Kyphosis, Scoliosis |
ORPHA:201 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Scoliosis |
OMIM:619005 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Decreased muscle mass, Kyphosis, Abnormal form of the vertebral ... |
OMIM:194190 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Torticollis, Kyphosis, Abnormal curvature of the vertebral column, Scoliosis |
OMIM:619475 |
Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Angina pectoris, Intracranial hemorrhage, Hypertrophic... |
ORPHA:79318 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Cockayne Syndrome A |
|
Hip contracture, Kyphosis |
OMIM:216400 |
Wrinkly Skin Syndrome |
|
Kyphosis, Scapular winging, Hypoplasia of the musculature, Scoliosis |
OMIM:278250 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Kyphosis, Platyspondyly, Scoliosis, Joint contracture of the hand |
OMIM:309000 |
Acromegaly |
|
Macroglossia, Kyphosis, Spinal canal stenosis |
ORPHA:963 |
Somatomammotropinoma |
|
Macroglossia, Kyphosis, Spinal canal stenosis |
ORPHA:314769 |
Oculocerebrorenal Syndrome Of Lowe |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:534 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Kyphosis, Sacral dimple, Scoliosis |
ORPHA:268261 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:198 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal v... |
ORPHA:2273 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Kyphosis, Flexion contracture, Knee flexion contracture... |
OMIM:259050 |
Mend Syndrome |
|
Kyphosis, Sacral dimple |
OMIM:300960 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly |
OMIM:304150 |
17Q11 Microdeletion Syndrome |
|
Rhabdomyosarcoma, Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-... |
ORPHA:97685 |
Ramon Syndrome |
|
Kyphosis, Scoliosis |
OMIM:266270 |
Cockayne Syndrome B |
|
Kyphosis |
OMIM:133540 |
Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
Pallister-Killian Syndrome |
|
Rhizomelia, Congenital diaphragmatic hernia, Mesomelic/rhizomelic limb shortening, Postaxial hand... |
OMIM:601803 |
Sotos Syndrome |
|
Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Kyphosis, Bilateral camptoda... |
ORPHA:821 |
Coffin-Lowry Syndrome |
|
Kyphosis, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:99413 |
Mosaic Monosomy X |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:99228 |
Monosomy X |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:99226 |
Turner Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:881 |
Branchiooculofacial Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture |
OMIM:113620 |
Neurofibromatosis Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:636 |
Yunis-Varon Syndrome |
|
Kyphosis, Anterior concavity of thoracic vertebrae |
OMIM:216340 |
Alström Syndrome |
|
Kyphosis, Thoracic scoliosis, Lumbar scoliosis |
ORPHA:64 |