Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati... |
OMIM:604286 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... |
OMIM:608807 |
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 Recessive 7 |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
Muscular Dystrophy, Progressive Pectorodorsal |
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Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Elevated circulating creat... |
OMIM:310095 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
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Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Dila... |
ORPHA:34515 |
Miyoshi Muscular Dystrophy 3 |
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Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Quadriceps muscle ... |
OMIM:613319 |
Polyglucosan Body Myopathy 2 |
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Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
Myopathy, Myofibrillar, 3 |
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Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ... |
OMIM:609200 |
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, Becker Type |
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Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:300376 |
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 |
Miyoshi Muscular Dystrophy 1 |
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Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... |
OMIM:254130 |
Tibial Muscular Dystrophy |
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Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
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Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal... |
OMIM:181350 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
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Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
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Limb-girdle muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:616094 |
Dpm3-Cdg |
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Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
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 |
Myopathy, Distal, Tateyama Type |
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Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... |
OMIM:614321 |
Myopathy, Sarcoplasmic Body |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
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Scapular winging, Elevated circulating creatine kinase concentration, Fatty replacement of skelet... |
OMIM:617232 |
Rhabdomyolysis, Susceptibility To, 1 |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... |
OMIM:620235 |
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 12 |
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Facial palsy, Quadriceps muscle atrophy, Elevated circulating creatine kinase concentration, Calf... |
OMIM:611307 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
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-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
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Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb... |
OMIM:615352 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
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Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... |
OMIM:609500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
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 |
Congenital Myopathy 5 With Cardiomyopathy |
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Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
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Ventricular hypertrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr... |
OMIM:601287 |
Distal Myopathy, Welander Type |
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Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy... |
ORPHA:603 |
Tibial Muscular Dystrophy, Tardive |
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EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Inclusion Body Myositis |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
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Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
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, Pseudohypertrophic, With Internalized Capillaries |
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Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ... |
OMIM:253601 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
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Ventricular septal hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentr... |
OMIM:612998 |
Muscular Dystrophy, Cardiac Type |
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Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:309930 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
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Skeletal muscle atrophy, Reduced systolic function, Elevated circulating creatine kinase concentr... |
OMIM:616827 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
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Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:613152 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
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Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Ankl... |
OMIM:613818 |
Nonaka Myopathy |
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Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... |
OMIM:605820 |
Gne Myopathy |
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Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Myopathy, Vacuolar, With Casq1 Aggregates |
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Elevated circulating creatine kinase concentration, Muscle fiber calsequestrin 1-containing inclu... |
OMIM:616231 |
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 |
Myopathy, Distal, 5 |
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Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Exercise Intolerance, Riboflavin-Responsive |
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Ragged-red muscle fibers |
OMIM:616839 |
Myopathy, Distal, With Rimmed Vacuoles |
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Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Welander Distal Myopathy |
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Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
Myopathy, Myofibrillar, 2 |
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Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... |
OMIM:608810 |
Myopathy, Distal, 3 |
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Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
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Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:618129 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
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Apnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency, Respiratory... |
OMIM:613869 |
Cardiomyopathy, Dilated, 3B |
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Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
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, Limb-Girdle, Autosomal Dominant 3 |
|
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L... |
ORPHA:86812 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... |
OMIM:603511 |
Congenital Myopathy 18 |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
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Skeletal muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:613158 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Ge... |
OMIM:604801 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
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Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, E... |
OMIM:617072 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Elevated cir... |
OMIM:255160 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
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Distal amyotrophy, Mildly elevated creatine kinase, Fiber type grouping |
OMIM:614369 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Myasthenic Syndrome, Congenital, 14 |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy, Elevated circulating creatine k... |
OMIM:613723 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:611615 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... |
OMIM:609524 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy, Elevated circula... |
OMIM:616209 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Elevated circulating creatine kinase concentration, Fle... |
OMIM:253600 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Left ... |
ORPHA:171445 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Distal Myotilinopathy |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Cardiomyopathy, ... |
ORPHA:98911 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Elevated circulating cre... |
OMIM:160500 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Cardiomyopathy, ... |
ORPHA:399086 |
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 (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Abnormal l... |
OMIM:613155 |
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 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy |
OMIM:253590 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype... |
OMIM:613157 |
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, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopath... |
OMIM:602541 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Elevated circulating creatine... |
OMIM:613205 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... |
OMIM:615959 |
Creatine Phosphokinase, Elevated Serum |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... |
OMIM:123320 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Eleva... |
OMIM:607855 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Restrictive c... |
OMIM:612954 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Congenital muscular dystrophy, Muscular dystrophy, Elevated circulating creatine kinase concentra... |
OMIM:613151 |
Oculopharyngodistal Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne... |
OMIM:181400 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300696 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... |
OMIM:614302 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopathy, Limb-girdle... |
OMIM:612937 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Cardiomyopathy, Increased variability in muscle fiber... |
ORPHA:401768 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ... |
OMIM:611588 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Dilated cardiomyopathy, ... |
OMIM:300718 |
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 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... |
ORPHA:178464 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... |
OMIM:618484 |
Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... |
ORPHA:270 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri... |
OMIM:609452 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Elevated circulating creatine kinase conce... |
OMIM:620386 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... |
OMIM:619477 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Limb muscl... |
OMIM:609273 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet... |
ORPHA:488650 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Reduced muscle... |
ORPHA:280333 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Elevated circulating creatine kinase con... |
OMIM:158900 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, Cardiomyopathy, Finger fl... |
ORPHA:63273 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Elevated circulating creatine kinase concentration, Fatty ... |
ORPHA:266 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Abnormal cir... |
OMIM:617336 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, El... |
OMIM:608840 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kin... |
OMIM:615351 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Elevated circulating creatine kinase... |
OMIM:615350 |
Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Elevated circulating creatine kinase concentrat... |
ORPHA:309169 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Myopath... |
OMIM:255100 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg... |
ORPHA:276435 |
Muscular Dystrophy, Barnes Type |
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Myopathy, Muscular dystrophy |
OMIM:158800 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
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Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... |
OMIM:617069 |
Congenital Myopathy 20 |
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Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
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Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia... |
OMIM:226670 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
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Muscular dystrophy |
OMIM:204730 |
Laing Early-Onset Distal Myopathy |
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Toe extensor amyotrophy, Talipes cavus equinovarus, Dilated cardiomyopathy, Abnormality of the ca... |
ORPHA:59135 |
Multiminicore Myopathy |
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Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
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Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ... |
ORPHA:206559 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Cardiomyopathy, Dilated, 1R |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Inclusion Body Myositis |
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Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... |
ORPHA:486815 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
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Left ventricular systolic dysfunction, Facial palsy, Elevated circulating creatine kinase concent... |
OMIM:613156 |
Lipodystrophy, Familial Partial, Type 6 |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Myop... |
OMIM:615980 |
Congenital Myopathy 4A, Autosomal Dominant |
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Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... |
OMIM:255310 |
Congenital Myopathy 1B, Autosomal Recessive |
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Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Muscular Dystrophy, Duchenne Type |
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Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:310200 |
Hereditary Continuous Muscle Fiber Activity |
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Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... |
ORPHA:972 |
X-Linked Centronuclear Myopathy |
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Pneumonia, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Type 1 fib... |
ORPHA:596 |
Zebra Body Myopathy |
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Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... |
ORPHA:97240 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
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Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Congestive heart ... |
ORPHA:206546 |
Glycogen Storage Disease 0, Muscle |
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Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Immune-Mediated Necrotizing Myopathy |
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Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Elevated circulating creatine kin... |
ORPHA:206569 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
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Myopathy, Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentra... |
ORPHA:206599 |
Myopathy, Myofibrillar, 8 |
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Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:617258 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
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Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter... |
ORPHA:1878 |
Congenital Muscular Dystrophy, Fukuyama Type |
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Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Dilated ca... |
ORPHA:272 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
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Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... |
OMIM:300717 |
Congenital Myopathy 3 With Rigid Spine |
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Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
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Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial ... |
OMIM:620265 |
King-Denborough Syndrome |
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Ventricular septal defect, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:619542 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
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Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Elevated circulating creatine kinase... |
OMIM:619518 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
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Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Central Core Disease |
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Multiple joint contractures, Elevated circulating creatine kinase concentration, Mitral valve pro... |
ORPHA:597 |
Bethlem Myopathy |
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Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
Congenital Myopathy 8 |
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Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
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Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:616052 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
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Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... |
OMIM:619903 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Adult-Onset Nemaline Myopathy |
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Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we... |
ORPHA:171442 |
Lethal Congenital Contracture Syndrome 5 |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:615368 |
Benign Samaritan Congenital Myopathy |
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Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
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Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
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Muscular dystrophy |
OMIM:614830 |
Mitochondrial Myopathy, Infantile, Transient |
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Increased serum pyruvate, Facial palsy, Elevated circulating creatine kinase concentration, Ragge... |
OMIM:500009 |
Bethlem Myopathy 2 |
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Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat... |
OMIM:616471 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
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Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Cardiomyop... |
ORPHA:119 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
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Right ventricular dilatation, Myopathy, Abnormal circulating creatine kinase concentration, Limb-... |
ORPHA:369840 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
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Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine ... |
OMIM:617070 |
Myasthenic Syndrome, Congenital, 12 |
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Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy |
OMIM:610542 |
Marinesco-Sjogren Syndrome |
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Skeletal muscle atrophy, Short metacarpal, Elevated circulating creatine kinase concentration, Ce... |
OMIM:248800 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
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Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
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Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... |
OMIM:616924 |
Classic Multiminicore Myopathy |
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Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... |
ORPHA:324604 |
Autosomal Recessive Centronuclear Myopathy |
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Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Ullrich Congenital Muscular Dystrophy 2 |
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Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction |
OMIM:606842 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
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Myopathy, Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Glycogen Storage Disease Ixd |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio... |
OMIM:300559 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
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Increased serum pyruvate, Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Amyotrophic Lateral Sclerosis 21 |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... |
OMIM:606070 |
Ataxia-Oculomotor Apraxia Type 4 |
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Progressive distal muscular atrophy, Abnormal toe morphology, Telangiectasia, Muscular dystrophy,... |
ORPHA:459033 |
Myopathy, Tubular Aggregate, 1 |
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Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, First degree atriove... |
OMIM:310300 |
Autosomal Dominant Centronuclear Myopathy |
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Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... |
ORPHA:169189 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... |
ORPHA:353 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy, Hammertoe |
OMIM:610100 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Elevated circulating creatine kinase concentration, Achilles tendon contracture, Dilated cardiomy... |
OMIM:607155 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... |
OMIM:603689 |
Moderate Multiminicore Disease With Hand Involvement |
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Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Familial Isolated Dilated Cardiomyopathy |
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Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:154 |
Myopathy, Centronuclear, 2 |
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Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
Myopathy, X-Linked, With Excessive Autophagy |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:310440 |
Congenital Myopathy 14 |
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Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Skeletal muscle atrophy, Elbow contracture, Facial palsy, Elevated circulating creatine kinase co... |
OMIM:606612 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
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EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Congenital Muscular Dystrophy, Ullrich Type |
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Long toe, Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber ... |
ORPHA:75840 |
Cysticercosis |
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Calcification of muscles, Cerebral calcification, Iridocyclitis, Abnormal skeletal muscle morphol... |
ORPHA:1560 |
Oculopharyngodistal Myopathy 3 |
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Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
OMIM:619473 |
Neutral Lipid Storage Disease With Myopathy |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased muscle lipid ... |
OMIM:610717 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
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Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness |
ORPHA:320360 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
ORPHA:98896 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Oculopharyngodistal Myopathy 4 |
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Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... |
OMIM:619790 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
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Facial palsy, Elevated circulating creatine kinase concentration, Left ventricular noncompaction ... |
OMIM:619424 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... |
OMIM:608340 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300695 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Flexion contr... |
OMIM:254090 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ... |
OMIM:167320 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Congestive heart failure, Ragged-red muscle fibers |
OMIM:616794 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Familial Tumoral Calcinosis |
|
Calcification of muscles, Skin rash |
ORPHA:53715 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration |
OMIM:619024 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Patent... |
OMIM:608799 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma... |
ORPHA:559 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration... |
ORPHA:424107 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac... |
OMIM:610140 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:615181 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele... |
OMIM:620249 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Myop... |
OMIM:232400 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Elevated creatine kinase after exercise, ... |
ORPHA:57 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... |
OMIM:620351 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fibers, Hyp... |
OMIM:618416 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98855 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Hand muscle w... |
ORPHA:254886 |
Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:868 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Abnormal muscle fiber morphology, Impaired myocardial contractility, Increa... |
ORPHA:681 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... |
OMIM:618138 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type... |
ORPHA:171433 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... |
OMIM:256030 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Elevated circulating creatine kinase concentration, Increa... |
OMIM:614399 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... |
OMIM:606685 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Third degree atrioventricular ... |
OMIM:601419 |
Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98853 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Dilat... |
OMIM:615084 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... |
OMIM:613327 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... |
OMIM:617228 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Elevated circulating creatine kinase concentration, My... |
ORPHA:732 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... |
OMIM:161800 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Generalized w... |
ORPHA:353327 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbing of fingers, T... |
OMIM:619574 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes... |
OMIM:609560 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy, D-2-hydroxyglutaric acidemia |
OMIM:613657 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98863 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Elevated circulating crea... |
ORPHA:370959 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
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, 9 |
|
Increased variability in muscle fiber diameter, Cerebral calcification, Muscular dystrophy, Eleva... |
OMIM:616538 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block |
ORPHA:480 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur... |
OMIM:620389 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated creatine kinase |
ORPHA:663 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Abnormal circulating creatine k... |
ORPHA:521411 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Highly el... |
ORPHA:258 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228302 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fib... |
ORPHA:1349 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... |
OMIM:613954 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... |
OMIM:252011 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy |
ORPHA:324416 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Myopathy, Cardiomyopathy |
ORPHA:26792 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... |
ORPHA:264675 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Dilated cardiomyopa... |
ORPHA:352447 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Cap Myopathy |
|
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... |
ORPHA:171881 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Left ventricular hypertrophy, Elevat... |
OMIM:300280 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter |
OMIM:616816 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula... |
OMIM:613154 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Flattened metatarsal heads, Coxa vara, Arthritis, Congenital finger flexion contractures, Constri... |
OMIM:208250 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Congenital Myopathy 15 |
|
Tricuspid regurgitation, Fatty replacement of skeletal muscle, Increased variability in muscle fi... |
OMIM:620161 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:615249 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Angina pectoris, Elevated circulating creatine kinase conce... |
ORPHA:565612 |
Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Ragged... |
OMIM:258450 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Congest... |
ORPHA:52430 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy |
ORPHA:79281 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... |
ORPHA:1177 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy |
OMIM:613561 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Elevated circulating creatine kinase concentration, Glycoge... |
ORPHA:368 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Arthritis, Increased variability in muscle fiber ... |
ORPHA:397744 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Hypersarcosinemia, Peroneal muscle weakness, Pulmonic stenosis |
ORPHA:3129 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Congestive heart failure, Hyper... |
OMIM:212140 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:228305 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhabdomyolysis, Di... |
OMIM:618120 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase c... |
OMIM:620326 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Dpm1-Cdg |
|
Sandal gap, Elevated circulating creatine kinase concentration, Knee flexion contracture, Muscula... |
ORPHA:79322 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Congestive heart fa... |
OMIM:616866 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... |
OMIM:603034 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Restrictive ventilator... |
OMIM:616414 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypopla... |
ORPHA:3099 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co... |
OMIM:613150 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:618237 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Cardiac arrest, Rhab... |
OMIM:212138 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:253800 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Elevated ci... |
ORPHA:206572 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:620240 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Distal lower limb muscle... |
OMIM:620080 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... |
OMIM:620011 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy |
OMIM:616549 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... |
ORPHA:329336 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:616867 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Joint contracture, Flexion contracture |
OMIM:608540 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Generali... |
OMIM:617519 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
Mcleod Syndrome |
|
Atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, ... |
OMIM:300842 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... |
OMIM:300770 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:618234 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... |
OMIM:620285 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Telangiectasia of the skin, Elevated circulating creatine kinase ... |
ORPHA:81 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib... |
OMIM:601462 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Arthrogryposis multiplex congenita, Clinodactyly, Increased endomysial conne... |
ORPHA:178148 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... |
OMIM:154275 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Muscular dystrophy |
OMIM:300200 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Type 2 muscle fiber atrophy, Weakness of facial musculature, Limb muscle weakness, ... |
OMIM:608930 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... |
OMIM:616479 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular... |
OMIM:115197 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Calf muscl... |
ORPHA:565899 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy |
OMIM:605809 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ... |
OMIM:612098 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u... |
OMIM:620085 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Abnormal circulating creatine kinase concentration, Muscular dystrophy, ... |
ORPHA:899 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Elevated circulating creatine kinase ... |
OMIM:201475 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... |
OMIM:609286 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Tachypnea, Distal... |
OMIM:604320 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrh... |
ORPHA:449285 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... |
OMIM:620236 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy |
OMIM:254210 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive hear... |
ORPHA:98908 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Elevated circulating phytanic ac... |
OMIM:266500 |
Bacterial Toxic-Shock Syndrome |
|
Myositis, Fasciitis, Sinusitis, Elevated circulating creatine kinase concentration, Hypoalbuminem... |
ORPHA:36234 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachypnea, Pneum... |
ORPHA:2257 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:616896 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Congestive heart failure, Dilated cardiomyopathy, C... |
OMIM:602390 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Mildly elevated creatine kinase, Hashimoto thyroiditis, Proximal amy... |
OMIM:159400 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... |
ORPHA:99013 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrophic... |
ORPHA:156 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Congestive heart failure, Abnormality of ske... |
ORPHA:79083 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Gout, Increased muscle glycogen content, Hype... |
OMIM:232800 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Dila... |
ORPHA:363623 |
Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia |
ORPHA:324588 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphyseal widening, P... |
OMIM:260400 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Congestive heart failure, Abnormality of skeletal muscle fiber size, Skelet... |
ORPHA:2348 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteolysis involv... |
ORPHA:88630 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebral calcification, Elevated circulating creatine kinase concentration, Elevated circulating ... |
ORPHA:157 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy |
OMIM:609016 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy... |
ORPHA:99845 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi... |
ORPHA:183 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated creatine kinase after exercise, Sudden cardiac death, Elevated circulating acylcarnitine... |
ORPHA:99901 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... |
ORPHA:31205 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Coxa... |
ORPHA:2848 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance |
OMIM:619028 |
Typical Nemaline Myopathy |
|
Facial palsy, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Fl... |
ORPHA:171436 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myop... |
OMIM:255125 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Myositis, Gastrointestinal hemorrhage, Pericarditis, Elevated ci... |
ORPHA:93672 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Ventricular tachycardia, Hypera... |
ORPHA:159 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Myopathy, Cardiomyopathy |
ORPHA:1215 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, Myopathy, Cardi... |
OMIM:617713 |
Kearns-Sayre Syndrome |
|
Basal ganglia calcification, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricu... |
OMIM:530000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in m... |
OMIM:604377 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c... |
ORPHA:1194 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Bilateral coxa valga, Hypertrophic cardiomyopathy |
OMIM:620270 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Acute pancreatitis, Elevated circulating creatine kina... |
ORPHA:26791 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Elevated circulating creatine ... |
OMIM:164310 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Congestive heart f... |
OMIM:613313 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Adducted thumb |
OMIM:614643 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... |
OMIM:616239 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... |
OMIM:212350 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Dyspnea, ... |
ORPHA:178320 |
Endocardial Fibroelastosis |
|
Congestive heart failure, Sandal gap, Restrictive cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2022 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration |
ORPHA:158684 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocard... |
ORPHA:3452 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy... |
ORPHA:767 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:609015 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Myopathy, Muscular dystrophy |
OMIM:307030 |
Idiopathic Camptocormia |
|
Myositis, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscl... |
ORPHA:1320 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int... |
ORPHA:90291 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta... |
OMIM:607426 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Increase... |
OMIM:620278 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Inflammatory abnormality of ... |
ORPHA:26793 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Portal hypertension, Cardiomyopathy |
OMIM:232500 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Nonproduc... |
ORPHA:36238 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Episodic tachypnea, Hyperammonemia, Elevated circulating suberic acid c... |
OMIM:615160 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hypertrophic cardiomyopathy, Telangiectasia of the skin, Generalized amyotrophy, Telangiectasia |
ORPHA:79279 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Rhabdomyolysis, Cardiomyopa... |
ORPHA:746 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Arachn... |
ORPHA:2461 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Flexion contracture, Abno... |
ORPHA:367 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Mitral valve prolapse, Quadricuspid aortic valve, Muscle fiber splitting |
OMIM:606408 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Eczema, Congestive h... |
OMIM:615895 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Cardiomegaly, Cardiomyopathy, Epiphyseal stippling |
OMIM:256550 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Cerebral calcification, Micromelia, Flexion contracture, Large hands, Mu... |
ORPHA:2671 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Sinusitis, Facial palsy, Pneumonia, Pustule, Arrhythmia, Infectious encephal... |
ORPHA:68 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hy... |
ORPHA:1345 |
Infantile Refsum Disease |
|
Cardiomyopathy, Arrhythmia, Elevated circulating phytanic acid concentration, Facial palsy |
ORPHA:772 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Portal hypertension, Cardio... |
ORPHA:465508 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... |
OMIM:500013 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoarthritis, Ca... |
OMIM:606069 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip... |
OMIM:607598 |
American Trypanosomiasis |
|
Skin rash, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Achalasia, Infectio... |
ORPHA:3386 |
Methionine Malabsorption Syndrome |
|
Tachypnea, Positive ferric chloride test |
OMIM:250900 |
Glycogen Storage Disease Xii |
|
Elevated circulating creatine kinase concentration, Myopathy, Cholecystitis, Hyperbilirubinemia, ... |
OMIM:611881 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Lower limb hypertonia, Type 1 muscle fiber predominan... |
ORPHA:319514 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber mo... |
ORPHA:79102 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Pericarditis, Fasciitis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Short metacarpal, Ventricular septal defect, Eczem... |
OMIM:616651 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morp... |
ORPHA:3068 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia, Hyperammonemia |
ORPHA:35 |
Shigellosis |
|
Hyponatremia, Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, Abnormal blood ion concentrati... |
ORPHA:810 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemia, Hyperalanin... |
OMIM:619386 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Myopathy, Cardiomyopathy, Shoulder girdle muscle weakness, Abnormal circula... |
ORPHA:98907 |
Maternally-Inherited Diabetes And Deafness |
|
Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy, Abnormal circula... |
ORPHA:225 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Tendon... |
OMIM:186580 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Cardiom... |
OMIM:604250 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Acute pancreatitis, Abnormal cardiovascular ... |
ORPHA:79086 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Abnormality of masseter muscl... |
ORPHA:423 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Myocarditis, Hepa... |
ORPHA:829 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis... |
ORPHA:809 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Scapular winging, Ragged-red muscle fibers, General... |
OMIM:600462 |
High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Large ... |
ORPHA:528 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Distal amyotrophy |
OMIM:617183 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Weakness of facial musculature, Flexion contracture, Myopathy, Cardiomyopathy |
OMIM:201470 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Dilated cardiomyopathy |
ORPHA:70595 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricu... |
ORPHA:308552 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Eczema, Delayed proximal femoral epiphyseal ossifi... |
ORPHA:353298 |
Congenital Enterovirus Infection |
|
Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Hyperammonemia, Cardiomyopathy, Hypoalbu... |
ORPHA:292 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Hyperalaninemia, Pulmonary arterial hypertension, Hyperprolinemia, Cardiomyopathy |
OMIM:619003 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Dyspnea, Ta... |
ORPHA:79126 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Tapered finger, Type 1 muscle fiber predominance, Chronic otitis media, Increased variability in ... |
OMIM:612949 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... |
OMIM:212112 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Cerebral calcification, Skin rash, Pneumonia, Raynaud phenomenon, Av... |
ORPHA:247691 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Knee flexion contracture, Calf muscle hypertr... |
OMIM:618733 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Cerebral calcification, Acute pancreatitis, Chilblains, Portal hypertension, Perica... |
OMIM:619487 |
Propionic Acidemia |
|
Eczema, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Hyperglycinemia, Pancreatitis, Lim... |
OMIM:606054 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Eczema, Patent ductus arteriosus, Mitral regurgi... |
OMIM:615355 |
Citrullinemia Type I |
|
Elevated plasma citrulline, Torticollis, Tachypnea, Hyperammonemia |
ORPHA:247525 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Cardiac arrest, Elevate... |
OMIM:616878 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration,... |
ORPHA:85414 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Generalized amyotrophy, Cardiomyopathy, Limb hypertonia |
OMIM:617710 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Ragged-red muscle fibers, Abnormality of the extraocular muscles, Hyperala... |
ORPHA:298 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Rhabdomyosarcoma, Muscular dystrophy, Clinodactyly of the 5th finger, Subva... |
ORPHA:1052 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Increased inflammatory response, Abnormal heart valve morphology... |
ORPHA:3287 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:615119 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Acute pancreatit... |
ORPHA:466677 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Pulmonary arterial hy... |
OMIM:613845 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Hyperuricemia, Cardiomyopathy |
ORPHA:3222 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy |
OMIM:620089 |
Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Alg3-Cdg |
|
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, Cardiomyopathy, Arthro... |
ORPHA:79321 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Optic Atrophy 11 |
|
Facial diplegia, Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, M... |
OMIM:617302 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Refsum Disease |
|
Skeletal muscle atrophy, Short metacarpal, Heart block, Cardiomyopathy, Hammertoe |
ORPHA:773 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Hypertrophic car... |
ORPHA:276556 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebral calcification, Elevated circulating creati... |
ORPHA:228308 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... |
OMIM:615745 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Abnormal cardiac ventricular function, Elevated circulating branched chain amino acid concentrati... |
ORPHA:2394 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Myocarditis, Hepatitis, Endocarditis, Hypotension, Arrhythmia, Infect... |
ORPHA:549 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Congenital diaphragmatic hernia, Proximal placement of thumb, Tapered finge... |
ORPHA:251071 |
Prune1-Related Neurological Syndrome |
|
Hypertrophic cardiomyopathy, Bilateral talipes equinovarus, Elevated circulating creatine kinase ... |
ORPHA:544469 |
Alg1-Cdg |
|
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology |
ORPHA:79327 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Abnorma... |
ORPHA:85443 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps... |
ORPHA:254892 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Congestive heart failure, Rhabdomyo... |
ORPHA:533 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... |
OMIM:265120 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Hypertrophic car... |
ORPHA:276575 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T... |
ORPHA:2872 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... |
OMIM:619167 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concentration, Sudde... |
OMIM:614921 |
Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Myocarditis, Lymphadenitis... |
ORPHA:2552 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endocarditis, Ectopic ca... |
ORPHA:449280 |
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 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Hyperalaninemia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
ORPHA:324525 |
Heart Block, Congenital |
|
Myocardial fibrosis, Atrioventricular block, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:618378 |
Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Arthritis... |
OMIM:617321 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Respiratory insufficiency, Respiratory failure, Hyperglycinemia |
OMIM:614299 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... |
ORPHA:117 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Hyperammonemia, Type 2 muscle fiber predominance, Short foot, Arrhythmia... |
OMIM:615471 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contrac... |
OMIM:619036 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Increased circulating ferritin concentration, Congestive heart failure, Telangiecta... |
OMIM:235200 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... |
ORPHA:139402 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... |
ORPHA:727 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:615287 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr... |
ORPHA:502423 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Lower limb amyotrophy |
ORPHA:496790 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral calcification, Cerebral hemorrhage, Diffus... |
ORPHA:464321 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Femo... |
OMIM:617022 |
Colchicine Poisoning |
|
Hyponatremia, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal blood ion concentratio... |
ORPHA:31824 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnormal circul... |
OMIM:615838 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypophosphatemia, Ty... |
OMIM:619743 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis |
OMIM:607685 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria... |
OMIM:619051 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hypertrophic cardiomyopathy |
OMIM:246900 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy, Increased C-peptide level |
ORPHA:276580 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... |
ORPHA:464343 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter... |
ORPHA:354 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Congenital contracture, Congenital muscular dystrophy, Elevated circulating creatine kinase conce... |
OMIM:236670 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti... |
ORPHA:280365 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Upper limb muscle weakness, Cardiomyopathy, Abnormal left ven... |
ORPHA:892 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic ca... |
OMIM:614702 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy |
ORPHA:67048 |
Cornelia De Lange Syndrome 2 |
|
Proximal placement of thumb, Clinodactyly, Small hand, Short foot, Hypertrophic cardiomyopathy, B... |
OMIM:300590 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
Mucopolysaccharidosis-Plus Syndrome |
|
Cerebral calcification, Congestive heart failure, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:617303 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Hypotension, Infectious encephalitis |
ORPHA:83317 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy, Cardiomyopathy |
OMIM:614922 |
Leptospirosis |
|
Pericarditis, Skin rash, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrhage,... |
ORPHA:509 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial contractility, Hy... |
ORPHA:158687 |
Melas |
|
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Basal ganglia calcification, Ragg... |
ORPHA:550 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Inflamm... |
ORPHA:221 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Upper-limb joint contracture, Distal amyotrophy, Lower-limb joint contra... |
ORPHA:300605 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Talipes ... |
ORPHA:98915 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration... |
ORPHA:264580 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Arachnodactyly, Rocker bottom ... |
ORPHA:3342 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Fractured radius, Decreased fibular diameter, Cardiomegal... |
OMIM:616897 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis |
ORPHA:188 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Patent ductus arteriosu... |
ORPHA:1842 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Skeletal muscle atrophy, Short humerus, Short femur, Patent ductus arteri... |
ORPHA:17 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture |
OMIM:614462 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Pericardial effusion, Flexion contracture, Cardiomyopathy, Hypoalbuminemia, Hypocho... |
OMIM:212065 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Hyperhomocystinemia, Elevated circulating p... |
OMIM:614857 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Elevated circulating C-reactive pro... |
ORPHA:3243 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Hyperalaninemia, Hyperprolinemia, Cardiomyopathy |
OMIM:619046 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Cardiomyopathy, Pancreatitis, Hyperammonemia |
ORPHA:79312 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy |
OMIM:520000 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Myocardial infarction, Cardiomegaly, Carotid artery calcification,... |
OMIM:208000 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration |
OMIM:300438 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis |
OMIM:602248 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Elevated circulating creatine ... |
OMIM:617675 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy |
OMIM:618229 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Elevated circulating alpha-fetoprotein concentration |
OMIM:614924 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:253280 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Tricuspid regurgitation, Pulmonic stenosis |
OMIM:619433 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Rhinitis, Abnormal heart valve morphology |
ORPHA:93476 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow flexion contracture, ... |
ORPHA:1900 |
Q Fever |
|
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Maculopapular exanthema, Pneumonia,... |
ORPHA:781 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Familial Isolated Restrictive Cardiomyopathy |
|
Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Hyperammonemia |
ORPHA:79242 |
Tetanus |
|
Respiratory distress, Tachypnea, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syndactyly, Facial diplegia, ... |
OMIM:619121 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Increased circulating fr... |
ORPHA:71212 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc... |
ORPHA:728 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Tachypnea, Elevated circulating C-reactive protein concentration |
OMIM:615934 |
Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Large hands |
ORPHA:99725 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Pancreatitis, Hyperammonemia |
ORPHA:27 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Dyspnea, Tachypnea, Hypophosphatemia |
OMIM:239200 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Arthritis, Rhinitis, Chron... |
ORPHA:47612 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Abnormal femur morpholo... |
ORPHA:324 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Cardiac conduction abnormality, Low plasma citrulline, Ragged-red muscle fibers, Dilated cardiomy... |
ORPHA:255210 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Tubulointerstitial... |
OMIM:251000 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accumulation in mu... |
ORPHA:365 |
Lujo Hemorrhagic Fever |
|
Shock, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration,... |
ORPHA:319213 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Ulnar deviation of finger, Macroglossia, Pulmon... |
ORPHA:3071 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Hyperlipidemia |
ORPHA:369 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Hypoplasia of the musculature, Ankle flexion contracture, Flexion contracture, E... |
ORPHA:2020 |
Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Diastasis recti, Metatarsus adductus, Flexion contracture, Genu ... |
OMIM:253220 |
Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Talip... |
ORPHA:168572 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Hypertrophi... |
OMIM:605275 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respiratory failure, Hyperbi... |
ORPHA:542323 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Overlapping toe, Flexion contracture, Atrial septal defect, Overlapping fingers, Hypertrophic car... |
OMIM:619383 |
Pulmonary Alveolar Microlithiasis |
|
Abnormal circulating calcium concentration, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax... |
ORPHA:60025 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Joubert Syndrome 32 |
|
Postaxial foot polydactyly, Hypertrophic cardiomyopathy, Postaxial hand polydactyly |
OMIM:617757 |
Hurler Syndrome |
|
Aortic regurgitation, Hypoplasia of the femoral head, Coxa valga, Metaphyseal widening, Flexion c... |
OMIM:607014 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis |
ORPHA:163596 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration |
OMIM:614879 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Hyperammonemia |
OMIM:616483 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Endocar... |
OMIM:619313 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Cerebral calcification, Tricuspid regurgitation, Congestive heart failure, Patent du... |
ORPHA:505248 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Broad thumb |
ORPHA:3173 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... |
ORPHA:98914 |
Aymé-Gripp Syndrome |
|
Pericarditis, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Pericardial ef... |
ORPHA:1272 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Elevated cir... |
ORPHA:1304 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o... |
ORPHA:175 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:618839 |
Isolated Atp Synthase Deficiency |
|
Dilated cardiomyopathy, Hyperammonemia, Arrhythmia, Hyperalaninemia, Hypertrophic cardiomyopathy |
ORPHA:254913 |
Vici Syndrome |
|
Atrial septal defect, Elevated circulating creatine kinase concentration, Congestive heart failur... |
OMIM:242840 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hypertrophic cardiomyopathy, Skeletal muscle steatosis |
ORPHA:436271 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy |
OMIM:500007 |
Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology |
ORPHA:886 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Patent foramen ovale, Tubulointerstitial nephritis |
OMIM:614582 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Skin rash, Congestive heart failure, Myocarditis, ... |
ORPHA:2331 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Abnormal heart valve morphology, Congestive heart failure, Split hand, Abnormal tendon... |
ORPHA:579 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Brachydactyly |
ORPHA:2701 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemia, Hyperprolinemia, Hypoornithi... |
OMIM:615751 |
Aicardi-Goutieres Syndrome 7 |
|
Intracerebral periventricular calcifications, Atrophic gastritis, Skin rash, Chilblains, Pneumoni... |
OMIM:615846 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Portal hypertension, Hypomimic face, Hypertrophic ... |
ORPHA:309854 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Recurrent intrapulmon... |
ORPHA:900 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Concentric hypertrophic cardiomyopathy, Increa... |
OMIM:252010 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Fasciitis, Sinusitis, Epistaxis, Gastritis, Hematemesi... |
ORPHA:73263 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... |
OMIM:618775 |
Hurler Syndrome |
|
Abnormal heart valve morphology, Camptodactyly of finger, Angina pectoris, Macroglossia, Hyperten... |
ORPHA:93473 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... |
OMIM:619705 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Cerebral vasculitis, Viral hepatitis, Membranoprolife... |
ORPHA:48435 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Generalized amyotrophy, Limb hypertonia |
ORPHA:572798 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Martsolf Syndrome 1 |
|
Short metacarpal, Cardiac arrest, Metatarsus adductus, Congestive heart failure, Short toe, Osteo... |
OMIM:212720 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Pneumonia, Metaphyseal widening, Flexion contracture, Split hand, Genu v... |
OMIM:253200 |
Friedreich Ataxia |
|
Hand muscle atrophy, Cardiomyopathy |
ORPHA:95 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Congestive heart failure, Hypoalbuminemia, Constrictive pericard... |
ORPHA:67 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Hyperammonemia |
OMIM:611719 |
Familial Mediterranean Fever |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Arthr... |
OMIM:249100 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Myocarditis, Metaphyseal chondrodysplasia, Atrioventricular block, Rhizomelic a... |
ORPHA:93317 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic necrosis |
OMIM:231530 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Noonan Syndrome 10 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse,... |
OMIM:616564 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating thymidine concentration, Distal amyotrophy, Ragged-red muscle fibers, Elevat... |
OMIM:603041 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Increased serum beta-hexosaminidase, Diastasis recti, Cardiomegaly, Coxa va... |
OMIM:252500 |
Aicardi-Goutieres Syndrome 1 |
|
Intracerebral periventricular calcifications, Cerebellar calcifications, Chilblains, Basal gangli... |
OMIM:225750 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory failure, Ri... |
ORPHA:555874 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Clinodactyly, Mitral valve prolapse, Pulmonic stenosis, H... |
OMIM:619745 |
Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Cardiomyopathy, Aspiration pneumonia, Flattened femoral head, Broad long bone diaph... |
ORPHA:79255 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Weakness of facial musculature, Hypertrophic cardiomyopathy, Increased intramyocellular lipid dro... |
OMIM:220110 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Hypoalbuminemia, Internal hemorrhage... |
ORPHA:99826 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613320 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Rhizomelia, Metaphyseal cupping, Myocarditis,... |
OMIM:250220 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Macroglossia, Hypokalemia, Cardiomyopathy, Polydactyly, Atrial septal ... |
ORPHA:769 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:618835 |
Serotonin Syndrome |
|
Rhabdomyolysis, Tachypnea |
ORPHA:43116 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue |
ORPHA:2609 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatitis, Abnormality of iron homeostasis |
ORPHA:848 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Agel Amyloidosis |
|
Facial palsy, Cardiomyopathy, Keratoconjunctivitis sicca, Arrhythmia, Orthostatic hypotension due... |
ORPHA:85448 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy |
OMIM:618437 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Patent ductus arteriosus, Cardiomyopathy, Abnormal cardi... |
OMIM:217980 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Tachypnea, Right ventricular hypertrophy |
ORPHA:860 |
Blau Syndrome |
|
Pericarditis, Skin rash, Camptodactyly of finger, Facial palsy, Keratitis, Retrobulbar optic neur... |
ORPHA:90340 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Arthritis, Cerebral ischemia, Arrhythm... |
ORPHA:397 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Cholangitis, Rhabdomyolysis, Ragged-red muscle fibers, Tubulointerstitial nephr... |
OMIM:124000 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Cerebral calcification, Angina pect... |
ORPHA:758 |
Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
Cocaine Intoxication |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Wheezing, Rhabdomyolysi... |
ORPHA:90068 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Hypertriglyceridemia, Generalized muscular appearance from birth, Cardiomyopa... |
OMIM:608594 |
Cholera |
|
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration ... |
ORPHA:173 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Myopathy, Cardiomyopathy |
ORPHA:3463 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Penoscrotal Transposition |
|
Clinodactyly of the 5th finger, Cardiomyopathy, Patellar aplasia |
ORPHA:2842 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperammonemia, Hyperventilation |
OMIM:253270 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Drumstick terminal phalanges, Hypertrophic c... |
OMIM:612938 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology |
OMIM:618250 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Abnormal pattern of respiration, T... |
ORPHA:3008 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Morbilliform rash, Erythema nodosum, Peritonit... |
ORPHA:228123 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Eczema, Congesti... |
ORPHA:506 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Generalized muscular appearanc... |
OMIM:269700 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Finger syndactyly, Toe syndactyly, Ventricular septal... |
ORPHA:373 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Femoral bowing, Aortic valve stenosis, Talipes equino... |
OMIM:615415 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Atrial Septal Defect, Ostium Primum Type |
|
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Left ventricular ... |
ORPHA:99106 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... |
OMIM:182250 |
Rh Deficiency Syndrome |
|
Hypoxemia, Tachypnea, Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Ethylene Glycol Poisoning |
|
Facial palsy, Episodic respiratory distress, Tachypnea, Hyperkalemia, Hypocalcemia, Abnormal patt... |
ORPHA:31826 |
Coronary Arterial Fistula |
|
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:2041 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Crackles, Rhabdomyolysis, Hyperkalemia, Tachy... |
ORPHA:466650 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Basal ganglia calcification, Flexion contracture, Subdural hemorrhage, R... |
ORPHA:90324 |
Beta-Ketothiolase Deficiency |
|
Tachypnea, Hyperuricemia, Hyperammonemia, Cough |
ORPHA:134 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis, Peritonitis... |
ORPHA:342 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Acute colitis, Pneumonia, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Se... |
ORPHA:544482 |
Biotinidase Deficiency |
|
Tachypnea, Apnea, Hyperammonemia |
OMIM:253260 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation o... |
ORPHA:29207 |
Immunodeficiency 22 |
|
Chronic oral candidiasis, Pericarditis, Panniculitis, Capillary leak |
OMIM:615758 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest |
OMIM:620167 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Elevated circulating C-reactive protein conce... |
ORPHA:449395 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea |
ORPHA:2318 |
Nocardiosis |
|
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis, Lymphadenitis... |
ORPHA:31204 |
Wolfram Syndrome 1 |
|
Cardiomyopathy, Limited mobility of proximal interphalangeal joint |
OMIM:222300 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Fl... |
ORPHA:217085 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal morphology of the radius, Metaphyseal dysplasia, Facial palsy, ... |
ORPHA:1328 |
Mucopolysaccharidosis Type 2 |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal heart morphology, ... |
ORPHA:580 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Multiple joint contractures, Ventricular septal defect, Ecze... |
ORPHA:33364 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Fl... |
ORPHA:217093 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:611126 |
Tetrasomy 9P |
|
Myositis, Pericarditis, Dextrocardia, Raynaud phenomenon, Small hand, Arthritis, Abnormal cardiac... |
ORPHA:3310 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypertrophic cardiomyopathy, Portal hypertension |
OMIM:619902 |
Ayme-Gripp Syndrome |
|
Pericarditis, Tapered finger, Radioulnar synostosis, Camptodactyly, Brachydactyly |
OMIM:601088 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:475 |
Double Outlet Right Ventricle |
|
Tachypnea, Hypocalcemia |
ORPHA:3426 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Hypocholesterolemia |
OMIM:618810 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Tachypnea, Apnea, Hyperuricemia, Hyperammonemia |
ORPHA:20 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Hypertrophic cardio... |
OMIM:617403 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... |
ORPHA:90363 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Heart block, Calcinosis cutis, Raynaud phenomenon, Arterial occlusion, Cardiomyopa... |
ORPHA:416 |
Joubert Syndrome 1 |
|
Central apnea, Macroglossia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:213300 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Myocarditis, Vasculiti... |
ORPHA:50918 |
Gm1-Gangliosidosis, Type I |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart val... |
OMIM:230500 |
Vici Syndrome |
|
Cardiomyopathy |
ORPHA:1493 |
Hermansky-Pudlak Syndrome 1 |
|
Epistaxis, Hematochezia, Cardiomyopathy, Inflammation of the large intestine, Colitis |
OMIM:203300 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cerebral calcification, Chilblains, Cardiomegaly, Raynaud ... |
ORPHA:51 |
Beckwith-Wiedemann Syndrome |
|
Macroglossia, Diastasis recti, Cardiomyopathy, Cardiomegaly |
OMIM:130650 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Dilated cardiomyopat... |
ORPHA:2388 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... |
OMIM:151100 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Metaphyseal sclerosis, Restrictive cardiomyopathy, Small hand, Short foot |
OMIM:616051 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease |
ORPHA:397715 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Hypoalbuminemia |
OMIM:618329 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicuspid aortic v... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicuspid aortic v... |
ORPHA:363958 |
Leprechaunism |
|
Skeletal muscle atrophy, Large hands, Hypokalemia, Increased circulating renin level, Hypertrophi... |
ORPHA:508 |
Toriello-Carey Syndrome |
|
Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis, ... |
ORPHA:3338 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:610773 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Maculopapular exanthema, Gout, Hyperbilirubinemia |
ORPHA:822 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hyperammonemia, Hypertension, Arrhythmia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614052 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Tricuspid regurgitation, Short humerus, Eczema, C... |
ORPHA:508542 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Short palm, Atrial septal defect, Patent ductus arteriosus, Card... |
OMIM:312870 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Upper limb undergrowth, Abnormal h... |
ORPHA:369837 |
3-Methylglutaconic Aciduria Type 7 |
|
Cardiomyopathy |
ORPHA:445038 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... |
ORPHA:2556 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, Hypocalcemia, Unconju... |
OMIM:613658 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy |
OMIM:619053 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture, Tibial bowing, Atrial septal defect, Small proximal tibial epiphyses, Short ... |
ORPHA:96334 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Hypertrophic cardiomyopathy, Reduced haptoglobin level, Hyperbil... |
OMIM:613673 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Hypoalbuminemia, Hypochole... |
OMIM:270400 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hypertrophic cardiomyopathy, Hyperkalemia, Hypotension |
ORPHA:361 |
Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperornithinemia, Tachypnea, Abnormal circulating citrulline concentration, Hyperammonemia |
ORPHA:415 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Cardiomegaly, Abnormal finger morphology, Aplasia of... |
ORPHA:3472 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Congestive heart failure, Second degree atrio... |
ORPHA:3385 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Hypertrophic cardiomyopathy, Elevated hemoglobin A1c, 2-3 toe syndactyly |
OMIM:616539 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory failure, Tachypnea, Respiratory insufficiency, Unconjugated hyperbilirubinemia |
OMIM:618278 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Elevated circulating alpha-fe... |
ORPHA:116 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Acromegaly |
|
Acne, Macrodactyly, Tapered finger, Osteoarthritis, Macroglossia, Mitral regurgitation, Hypertens... |
ORPHA:963 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613834 |
Williams Syndrome |
|
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:904 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Rhabdomyosarcoma, Achilles te... |
OMIM:218040 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Hypertrophic cardiomyopathy |
OMIM:618222 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Gastrointestinal hemorrhage, Elevated circulating alpha-fetoprotein concentrati... |
OMIM:276700 |
Aortic Arch Interruption |
|
Left ventricular hypertrophy, Tachypnea, Respiratory distress, Exertional dyspnea |
ORPHA:2299 |
Somatomammotropinoma |
|
Macrodactyly, Tapered finger, Osteoarthritis, Macroglossia, Mitral regurgitation, Hypertension, L... |
ORPHA:314769 |
Pearson Syndrome |
|
Cardiac conduction abnormality, Hypomagnesemia, Abnormal heart morphology, Cardiomyopathy, Hypoka... |
ORPHA:699 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea |
ORPHA:2754 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Abnormal ... |
ORPHA:84 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Increased blood urea nitrogen, Restrictive ventilatory defec... |
OMIM:233450 |
Castleman Disease |
|
Restrictive cardiomyopathy, Elevated circulating C-reactive protein concentration |
ORPHA:160 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hyperammonemia, Hypertension, Mitral... |
OMIM:220111 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cardiomyopathy |
OMIM:616084 |
Zimmermann-Laband Syndrome 1 |
|
Hyperextensibility of the finger joints, Patent ductus arteriosus, Cardiomyopathy, Short distal p... |
OMIM:135500 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Histiocytoid Cardiomyopathy |
|
Tachypnea, Cough |
ORPHA:137675 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis |
ORPHA:79430 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ... |
OMIM:607872 |
Arima Syndrome |
|
Dyspnea, Tachypnea |
OMIM:243910 |
Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Angina pectoris, Pericardial effusion, Long fingers, R... |
ORPHA:79318 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Abnormal tibia morphology, Abnormal heart morphology, Mitra... |
ORPHA:363700 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Transient ischemic a... |
OMIM:600268 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Rhabdomyosarcoma, Bowing of the legs, Renovascular hypertension, Abno... |
ORPHA:97685 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Clinodactyly, Synovitis, Pulmonic stenosis, ... |
OMIM:163950 |
Orofaciodigital Syndrome Type 2 |
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Tachypnea, Apnea |
ORPHA:2751 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Hallux valgus, Overlapping toe, Postaxial polydactyly, Tapered finger, Curved fingers, Patent duc... |
ORPHA:480880 |
Double Outlet Left Ventricle |
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Tachypnea |
ORPHA:3427 |
Yunis-Varon Syndrome |
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Short metatarsal, Absent hallux, Aspiration pneumonia, Patent foramen ovale, Tapered finger, Apla... |
OMIM:216340 |
Truncus Arteriosus |
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Tachypnea, Right ventricular hypertrophy |
ORPHA:3384 |
Pallister-Killian Syndrome |
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Ventricular septal defect, Rhizomelia, Congenital diaphragmatic hernia, Mesomelic/rhizomelic limb... |
OMIM:601803 |