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 |
Distal Myopathy With Anterior Tibial Onset |
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Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... |
ORPHA:178400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
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Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... |
OMIM:608807 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
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Ventricular hypertrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr... |
OMIM:601287 |
Myopathy, Myofibrillar, 4 |
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Autophagic vacuoles, Elevated circulating creatine kinase concentration, Progressive distal muscl... |
OMIM:609452 |
Miyoshi Muscular Dystrophy 3 |
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Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Quadriceps muscle ... |
OMIM:613319 |
Miyoshi Muscular Dystrophy 1 |
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Distal muscle weakness, Elevated circulating creatine kinase concentration, Distal amyotrophy, Mu... |
OMIM:254130 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
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Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Prox... |
OMIM:611307 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
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Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
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Elevated circulating creatine kinase concentration, Proximal muscle weakness, Ventricular septal ... |
OMIM:612998 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
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Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati... |
OMIM:604286 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P... |
OMIM:613530 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
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Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... |
OMIM:254110 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
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Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Prox... |
ORPHA:34515 |
Distal Anoctaminopathy |
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Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... |
ORPHA:399096 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
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Proximal muscle weakness, Fatty replacement of skeletal muscle, Highly elevated creatine kinase, ... |
OMIM:618848 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
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Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ... |
OMIM:611588 |
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 With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
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Scapular winging, Distal muscle weakness, Neck flexor weakness, Elevated circulating creatine kin... |
OMIM:601846 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
Distal Myotilinopathy |
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Multiple joint contractures, Elevated circulating creatine kinase concentration, Progressive dist... |
ORPHA:98911 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... |
OMIM:619566 |
Laing Early-Onset Distal Myopathy |
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Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Talipes cavus equin... |
ORPHA:59135 |
Polyglucosan Body Myopathy 2 |
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Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
Dpm3-Cdg |
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Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
Muscular Dystrophy, Congenital, 1B |
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Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Achilles tendon co... |
OMIM:604801 |
Gne Myopathy |
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Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... |
ORPHA:602 |
Distal Nebulin Myopathy |
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Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
Myopathy, Distal, With Rimmed Vacuoles |
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Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Myopathy, Distal, 3 |
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Distal muscle weakness, Split hand, Distal amyotrophy, Muscular dystrophy, Late-onset proximal mu... |
OMIM:610099 |
Myopathy, Myofibrillar, 2 |
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Distal muscle weakness, Elevated circulating creatine kinase concentration, Respiratory insuffici... |
OMIM:608810 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... |
OMIM:613723 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... |
OMIM:253601 |
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, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dilated cardiomyopat... |
OMIM:616827 |
Miyoshi Myopathy |
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Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Respira... |
ORPHA:45448 |
Finnish Upper Limb-Onset Distal Myopathy |
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Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
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Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... |
OMIM:608423 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
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Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Calf m... |
OMIM:618135 |
Myopathy, Distal, Infantile-Onset |
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Calf muscle hypertrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... |
OMIM:160300 |
Myopathy, Scapulohumeroperoneal |
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Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
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Limb-girdle muscle weakness, Gowers sign, Elevated circulating creatine kinase concentration, Mus... |
OMIM:616094 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
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Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Elevated circulating crea... |
ORPHA:267 |
Myopathy, Vacuolar, With Casq1 Aggregates |
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Muscle weakness, Elevated circulating creatine kinase concentration, Muscle fiber calsequestrin 1... |
OMIM:616231 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
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Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Ankl... |
OMIM:613818 |
Cardiomyopathy, Dilated, 1X |
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Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Dilate... |
OMIM:611615 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
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Bulbar palsy, Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Flex... |
OMIM:603511 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
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Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration, Proximal muscle ... |
OMIM:613158 |
Duchenne Muscular Dystrophy |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... |
ORPHA:98896 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr... |
OMIM:300696 |
Hereditary Myopathy With Early Respiratory Failure |
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Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Eleva... |
ORPHA:178464 |
Muscular Dystrophy, Becker Type |
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Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy... |
OMIM:300376 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
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Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... |
ORPHA:98912 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
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Scapular winging, Facial palsy, Beevor's sign, Pelvic girdle muscle weakness, Foot dorsiflexor we... |
OMIM:158901 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
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Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
Muscular Dystrophy, Progressive Pectorodorsal |
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Scapular winging, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concentra... |
OMIM:310095 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
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Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Prox... |
OMIM:615352 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
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Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Skelet... |
OMIM:613157 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
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Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Oculopharyngodistal Myopathy 2 |
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Bulbar palsy, Distal muscle weakness, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:618940 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
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Generalized muscle weakness, Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:613152 |
Congenital Myopathy 10B, Mild Variant |
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Neck flexor weakness, Elbow contracture, Elevated circulating creatine kinase concentration, Fatt... |
OMIM:620249 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
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Hip contracture, Neck flexor weakness, Elbow contracture, Elevated circulating creatine kinase co... |
OMIM:620386 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
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Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal... |
OMIM:181350 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P... |
ORPHA:86812 |
Myopathy, Myofibrillar, 3 |
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Elevated circulating creatine kinase concentration, Progressive distal muscle weakness, Proximal ... |
OMIM:609200 |
Nonaka Myopathy |
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Distal muscle weakness, Elevated circulating creatine kinase concentration, Distal amyotrophy, EM... |
OMIM:605820 |
Inclusion Body Myositis |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
Myopathy, Distal, 5 |
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Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... |
OMIM:617030 |
Myopathy, Sarcoplasmic Body |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
Combined Oxidative Phosphorylation Deficiency 49 |
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Progressive muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... |
OMIM:619024 |
Rippling Muscle Disease 2 |
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Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Skelet... |
OMIM:606072 |
Welander Distal Myopathy |
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Distal amyotrophy, Distal muscle weakness, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
Amish Nemaline Myopathy |
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Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
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Distal muscle weakness, Autophagic vacuoles, Elevated circulating creatine kinase concentration, ... |
ORPHA:266 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
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Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ... |
OMIM:605355 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
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Calf muscle pseudohypertrophy, Scapular winging, Elevated circulating creatine kinase concentrati... |
ORPHA:62 |
Myopathy, Centronuclear, 1 |
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Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
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 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
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Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
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Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Dilate... |
OMIM:612937 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:607855 |
Tibial Muscular Dystrophy |
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Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
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Poor head control, Elevated circulating creatine kinase concentration, Proximal muscle weakness, ... |
OMIM:300717 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
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Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy, Muscle weakness |
OMIM:253590 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
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Distal muscle weakness, Camptodactyly of finger, Elevated circulating creatine kinase concentrati... |
OMIM:617072 |
Myopathy, Myofibrillar, 6 |
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Scapular winging, Distal muscle weakness, Elevated circulating creatine kinase concentration, Fac... |
OMIM:612954 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Elevated circulating creatine kina... |
OMIM:615424 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Achil... |
OMIM:608840 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Centrally nucleated s... |
OMIM:620235 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Scapulope... |
OMIM:613205 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Distal muscle weakness, Mildly elevated creatine kinase, Fiber type grouping |
OMIM:614369 |
Danon Disease |
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Myocardial necrosis, Distal muscle weakness, Elevated circulating creatine kinase concentration, ... |
OMIM:300257 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Abdominal wall muscle weakness, Facial palsy, Elevated... |
OMIM:158900 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... |
OMIM:614302 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy, Muscle weakness |
OMIM:254100 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy... |
ORPHA:603 |
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 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased circulating cre... |
OMIM:302045 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Reduced muscle... |
ORPHA:280333 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Elevat... |
OMIM:619733 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Elevated circulating creatine kinase concentration, Fle... |
OMIM:253600 |
Myopathy, Distal, Tateyama Type |
|
Neck flexor weakness, Elevated circulating creatine kinase concentration, Hand muscle weakness, C... |
OMIM:614321 |
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 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc... |
OMIM:619042 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Respiratory insuffi... |
OMIM:300718 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Abdominal wall muscle weakness, Elevated circulating creatine kinase concentrat... |
OMIM:618129 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Proximal muscle weakness, F... |
OMIM:616471 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Ragge... |
OMIM:500002 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Calf muscle hypoplasia, Increa... |
ORPHA:488650 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness... |
OMIM:620285 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... |
ORPHA:610 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:309930 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Cardiomegaly, Proximal muscl... |
OMIM:618654 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... |
ORPHA:598 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, T... |
OMIM:181400 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Dilated cardiomyop... |
OMIM:602541 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:617066 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Neck flexor weakness, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re... |
OMIM:616209 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Myopathy, Myofibrillar, 5 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Muscle fiber cytopl... |
OMIM:609524 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Elevated circulating creatine kinase concentrat... |
OMIM:615048 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Neck flexor weakness, Elevated circulating creatine kinase concentration, Proxi... |
OMIM:603689 |
Desminopathy |
|
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... |
ORPHA:98909 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Macrogloss... |
OMIM:613155 |
Congenital Myopathy 14 |
|
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... |
OMIM:618414 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration... |
ORPHA:254361 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... |
OMIM:614065 |
Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Limb muscle weakness, Weakness of long finger extensor muscles, Prog... |
ORPHA:641 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Poor head control, Elevated circulating creatine kinase ... |
OMIM:615350 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Elevated circu... |
OMIM:160500 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal... |
ORPHA:457050 |
Myopathy, Tubular Aggregate, 1 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, External ophthalmop... |
OMIM:160565 |
Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:616052 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Progressive muscle wea... |
OMIM:608627 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617760 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... |
ORPHA:2593 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... |
OMIM:255320 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Elevated circulating creatine kinase concentra... |
ORPHA:1878 |
Myopathy And Diabetes Mellitus |
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Distal lower limb amyotrophy, Achilles tendon contracture, Progressive proximal muscle weakness, ... |
ORPHA:2596 |
Myasthenic Syndrome, Congenital, 17 |
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Muscle weakness, Type 1 muscle fiber predominance |
OMIM:616304 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
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Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... |
OMIM:117000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
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Facial palsy, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Flexi... |
OMIM:613156 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
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Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... |
OMIM:619477 |
Hypertrophia Musculorum Vera |
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Calf muscle hypertrophy |
OMIM:145800 |
Oculopharyngodistal Myopathy |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive external ophth... |
ORPHA:98897 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
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Hip contracture, Scapular winging, Paraspinal muscle hypertrophy, Knee flexion contracture, Conge... |
OMIM:602484 |
Amyotrophic Lateral Sclerosis 20 |
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Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Congenital Myopathy 3 With Rigid Spine |
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Poor head control, Neck flexor weakness, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:602771 |
Nemaline Myopathy 6 |
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Skeletal muscle atrophy, Neck flexor weakness, Elevated circulating creatine kinase concentration... |
OMIM:609273 |
Congenital Myopathy 6 With Ophthalmoplegia |
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Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... |
OMIM:605637 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
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Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... |
OMIM:608358 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
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Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... |
OMIM:609500 |
Muscle Hypertrophy |
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Skeletal muscle hypertrophy |
OMIM:614160 |
Inclusion Body Myositis |
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Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles |
OMIM:147421 |
Myofibrillar Myopathy 11 |
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Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... |
OMIM:619178 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
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Hypoglycosylation of alpha-dystroglycan, Poor head control, Elevated circulating creatine kinase ... |
OMIM:615351 |
Myasthenic Syndrome, Congenital, 14 |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers... |
OMIM:616228 |
Adult-Onset Nemaline Myopathy |
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Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... |
ORPHA:171442 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... |
OMIM:618138 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... |
ORPHA:34516 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
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Congenital muscular dystrophy, Elevated circulating creatine kinase concentration, Muscular dystr... |
OMIM:613151 |
Zebra Body Myopathy |
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Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Elevated circulating crea... |
ORPHA:97240 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
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Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... |
OMIM:616313 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P... |
OMIM:619518 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
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Elevated circulating creatine kinase concentration, Proximal muscle weakness, Ragged-red muscle f... |
OMIM:616924 |
Myasthenic Syndrome, Congenital, 12 |
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Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... |
OMIM:610542 |
Charcot-Marie-Tooth Disease Type 1B |
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Skeletal muscle hypertrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen... |
ORPHA:101082 |
Lipodystrophy, Familial Partial, Type 6 |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... |
OMIM:615980 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
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 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
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Poor head control, Generalized muscle weakness, Increased variability in muscle fiber diameter, W... |
OMIM:620265 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
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Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:613869 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Congenital Muscular Dystrophy With Intellectual Disability |
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Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Elevated circ... |
ORPHA:370968 |
Creatine Phosphokinase, Elevated Serum |
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Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... |
OMIM:123320 |
Marinesco-Sjogren Syndrome |
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Skeletal muscle atrophy, Short metacarpal, Elevated circulating creatine kinase concentration, Ce... |
OMIM:248800 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Elevated circulating creat... |
ORPHA:353 |
Moderate Multiminicore Disease With Hand Involvement |
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Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... |
ORPHA:178145 |
Oculopharyngodistal Myopathy 3 |
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Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
OMIM:619473 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Increased circulating creatine kinase MM isoform, Poor head control, Cardiomyopathy, Hypoalbumine... |
OMIM:613752 |
Muscular Dystrophy, Mabry Type |
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Late-onset muscular dystrophy |
OMIM:310000 |
Congenital Myopathy 5 With Cardiomyopathy |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, D... |
OMIM:611705 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
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Congenital muscular dystrophy |
OMIM:254000 |
Rippling Muscle Disease 1 |
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Skeletal muscle hypertrophy |
OMIM:600332 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
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Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Elevated circula... |
OMIM:617069 |
Nemaline Myopathy 2 |
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Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... |
OMIM:256030 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
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Bulbar palsy, Fatigable weakness, Calf muscle hypertrophy, Neck muscle weakness, Muscle weakness |
OMIM:618197 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
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Elevated circulating creatine kinase concentration, Gowers sign, Calf muscle hypertrophy, Myopath... |
ORPHA:119 |
Oculopharyngodistal Myopathy 4 |
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Distal muscle weakness, Autophagic vacuoles, Elevated circulating creatine kinase concentration, ... |
OMIM:619790 |
Congenital Muscular Dystrophy, Ullrich Type |
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Long toe, Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber ... |
ORPHA:75840 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
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Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Myopathy,... |
OMIM:300580 |
Muscular Dystrophy, Duchenne Type |
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Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase ... |
OMIM:310200 |
Myopathy, Centronuclear, 4 |
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Abnormal circulating creatine kinase concentration, Muscle weakness, Type 1 muscle fiber predomin... |
OMIM:614807 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
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Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
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Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Distal muscle weakne... |
ORPHA:254875 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Skeletal muscle atrophy, Generalized muscle weakness, Increased variabi... |
ORPHA:238329 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Elevated circulating creatine kinase concentration, Facial palsy, Respi... |
OMIM:500009 |
Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ophthalmopl... |
ORPHA:270 |
Muscle Filaminopathy |
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Extremely elevated creatine kinase, Scapular winging, Neck flexor weakness, Fatty replacement of ... |
ORPHA:171445 |
Atrial Standstill |
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Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Hereditary Continuous Muscle Fiber Activity |
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Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... |
ORPHA:972 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Quadriceps muscle w... |
ORPHA:206546 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
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Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg... |
OMIM:609286 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... |
OMIM:300559 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode... |
ORPHA:324604 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Myopathy, Muscle weakness |
ORPHA:2349 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
Congenital Myopathy 10A, Severe Variant |
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Poor head control, Facial palsy, Elevated circulating creatine kinase concentration, Camptodactyl... |
OMIM:614399 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
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Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Prox... |
OMIM:620166 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
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Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ... |
ORPHA:206559 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Elevated c... |
OMIM:617070 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio... |
ORPHA:368 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... |
OMIM:609283 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Achilles tendon con... |
OMIM:607155 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Proximal muscle weakness, Right ventricular dilatation, Myopathy, Abnormal circulating creatine k... |
ORPHA:369840 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra... |
OMIM:618484 |
Brody Disease |
|
Skeletal muscle hypertrophy, Flexion contracture, Muscle weakness |
OMIM:601003 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
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 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ... |
ORPHA:171439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... |
OMIM:613954 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Abnormal toe morphology, Progressive distal muscular atrophy, Distal lower limb muscle weakness, ... |
ORPHA:459033 |
Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Elevated circulating creatine kinase concentrat... |
ORPHA:309169 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Increased circulating ferritin concentration, Progressive muscle weakness, Ragg... |
OMIM:600462 |
Hemihyperplasia, Isolated |
|
Skeletal muscle hypertrophy |
OMIM:235000 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Proximal musc... |
OMIM:254090 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... |
DECIPHER:39 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... |
OMIM:255310 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Dilated ca... |
ORPHA:272 |
Paramyotonia Congenita |
|
Skeletal muscle hypertrophy, Muscle weakness |
OMIM:168300 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma... |
ORPHA:559 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen... |
OMIM:608390 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Myopathy, Ventricular septal defect, Increased ... |
OMIM:616816 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Gowers sign, Cardiomyopathy, Abnormal circulating creatine kinase... |
OMIM:617336 |
Central Core Disease |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Respiratory insu... |
ORPHA:597 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers, Muscle weakness |
OMIM:545000 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration... |
ORPHA:424107 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakne... |
OMIM:300816 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Muscle weakness |
ORPHA:99014 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmoplegia, Cardiomyop... |
ORPHA:401768 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... |
ORPHA:486815 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facial diplegia, Nec... |
OMIM:609285 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Ankle flexion contracture,... |
OMIM:616668 |
Myotonia Congenita, Autosomal Recessive |
|
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Muscle weakness |
OMIM:255700 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... |
OMIM:157640 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Gowers sign, Flexion... |
OMIM:310440 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Skeletal muscle hypertrophy, Irregular femoral epiphysis, Firm muscles, Genu valgum |
OMIM:255710 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Poor head control, Elevated circulating creatine kinase concentrati... |
OMIM:613153 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Elevated circulatin... |
OMIM:617114 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... |
OMIM:608340 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Generalized muscle w... |
OMIM:614096 |
Myotonia Permanens |
|
Ophthalmoplegia, Generalized muscle hypertrophy, Ophthalmoparesis, Skeletal muscle hypertrophy, M... |
ORPHA:99735 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... |
OMIM:619903 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:616867 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentration, Centrally nuclea... |
OMIM:255160 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Poor head control, Distal muscle weakness, Elevated circulating creatine kinase... |
ORPHA:353327 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Facial palsy, Elevated circulating creatine kinase concentration, Left ventricular noncompaction ... |
OMIM:619424 |
Acetazolamide-Responsive Myotonia |
|
Skeletal muscle hypertrophy, Ophthalmoplegia, Ophthalmoparesis |
ORPHA:99736 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Left ventricular hypertrophy, Elevat... |
OMIM:300280 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Elevated circulating creatine kinase concentration, Progressive muscle weakness, Ragged-red muscl... |
OMIM:607426 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... |
ORPHA:397744 |
Infantile Refsum Disease |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Facial palsy, Progressive muscl... |
ORPHA:772 |
Myotonia Congenita, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Muscle weakness |
OMIM:160800 |
Congenital Fiber-Type Disproportion Myopathy |
|
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... |
ORPHA:2020 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Proximal muscle weaknes... |
ORPHA:352479 |
Amyotrophic Lateral Sclerosis 21 |
|
Bulbar palsy, Distal muscle weakness, Elevated circulating creatine kinase concentration, Central... |
OMIM:606070 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... |
OMIM:617228 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:615181 |
Cap Myopathy |
|
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... |
ORPHA:171881 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... |
OMIM:618823 |
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 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Muscle weakness, Abnormal muscle fiber protein expr... |
ORPHA:330054 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... |
OMIM:601462 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexio... |
ORPHA:682 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Progressive muscle weakness, Joint contracture, Muscle weakness, Congenital diaphragmatic hernia |
OMIM:615919 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... |
ORPHA:596 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Patent... |
OMIM:608799 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Typical Nemaline Myopathy |
|
Neck flexor weakness, Elevated circulating creatine kinase concentration, Facial palsy, Fatigable... |
ORPHA:171436 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... |
OMIM:615959 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Myopathy, Progressive proximal muscle weakness, Limb-girdle muscula... |
ORPHA:369847 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Elevated circulating crea... |
ORPHA:370959 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement... |
ORPHA:98908 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Poor head control, Elevated circulating creatine kinase concentration, Abnormal circulating homoc... |
ORPHA:88618 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Progressive external ophthalmoplegia, Facial palsy, Elevated circulating creatine kinase concentr... |
OMIM:610131 |
Lipodystrophy, Familial Partial, Type 4 |
|
Skeletal muscle hypertrophy, Hypertriglyceridemia |
OMIM:613877 |
Satoyoshi Syndrome |
|
Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,... |
OMIM:600705 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Elevated c... |
OMIM:258450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Poor head control, Elevated circulating creatine kinase concentration, Respiratory insufficiency ... |
OMIM:615249 |
Shox-Related Short Stature |
|
Tibial bowing, Skeletal muscle hypertrophy, Short foot, Genu valgum, Forearm undergrowth, Lower l... |
ORPHA:314795 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Centrally nucleated ske... |
OMIM:613327 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Poor head control, Elevated circulating creatine ... |
OMIM:616538 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphyseal widening, P... |
OMIM:260400 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Calf muscl... |
ORPHA:565899 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory pa... |
ORPHA:681 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Proximal muscle weakn... |
ORPHA:52430 |
Charcot-Marie-Tooth Disease Type 1A |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic weakness |
ORPHA:101081 |
Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic he... |
ORPHA:171719 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Rhabdomyolysis, Rag... |
OMIM:618416 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy |
ORPHA:324416 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:99811 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:609560 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration... |
ORPHA:79240 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... |
ORPHA:1145 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:614100 |
Dystonia 7, Torsion |
|
Skeletal muscle hypertrophy, Torticollis |
OMIM:602124 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox... |
ORPHA:329478 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Muscle weakness |
ORPHA:84142 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Calf muscle hypertrophy, Limb muscle weakness, Bulbar palsy, Elevated circulating creatine kinase... |
OMIM:313200 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:255200 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Hip contracture, Bowing of the long bones, Elevated circulating creatine... |
OMIM:255800 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Patent ductus arter... |
OMIM:616866 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter |
OMIM:125250 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Elevated circulating creatine kinase concentration, Gowers sign, Proximal amyotrophy, Upper limb ... |
ORPHA:209335 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration... |
ORPHA:264580 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... |
OMIM:255125 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Highly elevated creatin... |
ORPHA:258 |
Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Diastasis recti, Metatarsus adductus, Genu valgum, Skeletal muscle hypertr... |
ORPHA:3101 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth |
OMIM:613630 |
Lipe-Related Familial Partial Lipodystrophy |
|
Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:435660 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Hyperkalemia, EMG: myopathic abnormalitie... |
ORPHA:57 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... |
ORPHA:2141 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co... |
OMIM:613150 |
Dk1-Cdg |
|
Progressive muscle weakness, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Interstitial card... |
ORPHA:91131 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Increased muscle glycogen content, Hyperurice... |
OMIM:232800 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myo... |
ORPHA:2348 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Progressive muscle wea... |
OMIM:615512 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:253800 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, S... |
ORPHA:79083 |
Myasthenic Syndrome, Congenital, 19 |
|
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... |
OMIM:616720 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Telangiectasia of the skin, Retinal telangiectasia, Congenital diaphragmatic hernia, Gait ataxia |
ORPHA:438134 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Broad toe, Ventricular septal defect, Diastasis recti, Progressive muscl... |
ORPHA:488632 |
Oculopharyngodistal Myopathy 1 |
|
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase c... |
OMIM:164310 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Progressive proximal muscle weakness, Myopathy, Cardiomyopathy, Shoulder gi... |
ORPHA:98907 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... |
ORPHA:600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Elevated circulating creatine kinase... |
OMIM:613154 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Progressive external ophthalmoplegia |
ORPHA:480 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:617258 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:261102 |
Dpm1-Cdg |
|
Sandal gap, Elevated circulating creatine kinase concentration, Knee flexion contracture, Muscula... |
ORPHA:79322 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Abnormal circulating creatine kinase concentration, Muscular dystrophy, ... |
ORPHA:899 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... |
OMIM:619461 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, External ophthalmo... |
OMIM:620351 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Skeletal muscle hypertrophy, Macroglossia, Large hands, Hypercholesterolemi... |
ORPHA:528 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:615524 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228302 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:380 |
Cidec-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypertriglyceridemia |
ORPHA:435651 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Oculomotor nerve palsy, Facial palsy |
ORPHA:68 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ... |
OMIM:620278 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Progressive external ophthalmoplegia, Facial palsy, Elevated circulating creatine kinase concentr... |
OMIM:615084 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph... |
ORPHA:169189 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we... |
OMIM:607459 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... |
ORPHA:98855 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Muscular dystrophy |
OMIM:300200 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 ... |
OMIM:617164 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... |
ORPHA:98853 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accumulation in mu... |
ORPHA:365 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
External ophthalmoplegia, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Abno... |
OMIM:601163 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... |
ORPHA:98863 |
Arts Syndrome |
|
Progressive muscle weakness |
OMIM:301835 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Tetra... |
OMIM:300887 |
Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness |
OMIM:300076 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Progressive external ophthalmoplegia, Elevated circulating creatine kinase concentration, Respira... |
ORPHA:352447 |
Stiff Person Spectrum Disorder |
|
Paraspinal muscle hypertrophy |
ORPHA:3198 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Poor head control, Tapered finger, Type 1 muscle fiber predominance, Increased variability in mus... |
OMIM:612949 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Skeletal muscle atrophy, Autoamputation of digits, Distal muscle weakness, Progressive muscle wea... |
OMIM:256810 |
Glycogen Storage Disease Xv |
|
Muscle weakness, Scapular winging, Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance |
OMIM:613507 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:2847 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal thu... |
ORPHA:1120 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ... |
OMIM:166300 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:1166 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Proximal muscle weakness, Ragged-red muscle fibers, Dilated cardiomyopathy, Ophthalmoparesis, Inc... |
ORPHA:70595 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Proximal muscle weakness, Gowers sign, Increased variability in muscle fiber diameter, Increased ... |
ORPHA:502423 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Myofiber disarray, Myopathy, Increased variability in muscle fiber diam... |
OMIM:604377 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Neck flexor weakness, Elevated circula... |
ORPHA:268 |
Acrocallosal Syndrome |
|
Postaxial hand polydactyly, Congenital diaphragmatic hernia, Triphalangeal thumb |
ORPHA:36 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
Optic Atrophy 11 |
|
Facial diplegia, Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, M... |
OMIM:617302 |
Glycogen Storage Disease Xii |
|
Elevated circulating creatine kinase concentration, Myopathy, Hyperbilirubinemia, Increased varia... |
OMIM:611881 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acroosteolysis of distal phalanges... |
ORPHA:280365 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Poor head control |
OMIM:615595 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Ophthalmoparesis, Fatigable weakness, Proximal amyotrophy, Type 2 muscle fiber atrophy, Mildly el... |
OMIM:159400 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Elevated circulating creatine ... |
OMIM:617675 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Arachn... |
ORPHA:2461 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Adducted thumb, Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:614643 |
Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Talip... |
ORPHA:168572 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Femo... |
OMIM:617022 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Micromelia, Flexion contracture, Large hands, Muscular dystrophy, Aplasi... |
ORPHA:2671 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Flexion contracture, Elevated circulating creatine kinase concentration, Muscular dystrophy |
ORPHA:158684 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia |
OMIM:619699 |
Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:139466 |
Isolated Anencephaly |
|
Congenital diaphragmatic hernia |
ORPHA:563609 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities, Abnormal blood potassium c... |
ORPHA:684 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia, Small hand, Short... |
OMIM:617450 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1520 |
Tonne-Kalscheuer Syndrome |
|
Brachydactyly, Broad thumb, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:300978 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
Glycerol Kinase Deficiency |
|
Myopathy, Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia |
OMIM:307030 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
Polymyositis |
|
Pericarditis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog... |
ORPHA:732 |
Cooper-Jabs Syndrome |
|
Proximal placement of thumb, Ventricular septal defect, Camptodactyly of finger, Congenital diaph... |
ORPHA:1488 |
Coffin-Siris Syndrome 3 |
|
Macroglossia, Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Abnormal hear... |
OMIM:614608 |
Schisis Association |
|
Congenital diaphragmatic hernia, Micromelia |
ORPHA:63862 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Metaphyseal widening, Flexion contr... |
OMIM:263210 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, Choreoathetosi... |
ORPHA:261197 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera... |
OMIM:618022 |
15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Abnormal... |
ORPHA:94065 |
Xp22.13P22.2 Duplication Syndrome |
|
Small hand, 2-3 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger |
ORPHA:284180 |
Neuromuscular Oculoauditory Syndrome |
|
Poor head control, Elevated circulating creatine kinase concentration, Knee flexion contracture, ... |
OMIM:618733 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Skeletal muscle hypertrophy, Hyper... |
OMIM:151660 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Congenital diaphragmatic hernia, Proximal placement of thumb, Tapered finge... |
ORPHA:251071 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Bowing of the long bones, Shoulder flexion contracture,... |
ORPHA:800 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Ophthalmoparesis, Clinod... |
ORPHA:3068 |
Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia |
ORPHA:370079 |
Zaki Syndrome |
|
Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Patent ductus arteriosus, Ectrodac... |
OMIM:619648 |
Mosaic Variegated Aneuploidy Syndrome |
|
Rhabdomyosarcoma, Clinodactyly of the 5th finger, Muscular dystrophy, Subvalvular aortic stenosis... |
ORPHA:1052 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy |
OMIM:619714 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Generalized muscle weakness, Elevated circulating creatine kinase concentration, Muscle weakness,... |
OMIM:253280 |
Myhre Syndrome |
|
Skeletal muscle hypertrophy, Abnormal cardiac septum morphology, Short palm, Abnormal metaphysis ... |
ORPHA:2588 |
Myhre Syndrome |
|
Ventricular septal defect, Overlapping toe, Pericardial effusion, Patent ductus arteriosus, Gener... |
OMIM:139210 |
13Q12.3 Microdeletion Syndrome |
|
Hemihypotrophy of lower limb, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
Genitopalatocardiac Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, ... |
ORPHA:2075 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Dextrocardia, 2-3 finger syndactyly, Clubb... |
ORPHA:2437 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Skeletal muscle atrophy, Short humerus, Short femur, Patent ductus arteri... |
ORPHA:17 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Abno... |
ORPHA:1335 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Congenital diaphragmatic hernia |
ORPHA:2063 |
Non-Syndromic Posterior Hypospadias |
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Congenital diaphragmatic hernia |
ORPHA:95706 |
Fetal Alcohol Syndrome |
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Atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:1915 |
Meacham Syndrome |
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Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Elevated circulating creatine kinase concentration, Hyperlipidemia, Increased muscle lipid conten... |
ORPHA:565612 |
1Q41Q42 Microdeletion Syndrome |
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Talipes equinovarus, Congenital diaphragmatic hernia |
ORPHA:250999 |
Halperin-Birk Syndrome |
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Congenital diaphragmatic hernia, Inability to walk, Flexion contracture, Perimembranous ventricul... |
OMIM:618651 |
Trisomy 1Q |
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Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of finger, Congenital di... |
ORPHA:261344 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Congenital diaphragmatic hernia |
OMIM:606164 |
Emanuel Syndrome |
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Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Pate... |
OMIM:609029 |
Seckel Syndrome 9 |
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Atrial septal defect, Ventricular septal defect, Talipes equinovarus, Congenital diaphragmatic he... |
OMIM:616777 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:615287 |
Thoracoabdominal Syndrome |
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Patent ductus arteriosus, Transposition of the great arteries, Congenital diaphragmatic hernia, E... |
OMIM:313850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Congenital contracture, Congenital muscular dystrophy, Elevated circulating creatine kinase conce... |
OMIM:236670 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
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Torticollis, Neck muscle hypertrophy |
ORPHA:420492 |
Intellectual Disability-Strabismus Syndrome |
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Failure to thrive, Congenital diaphragmatic hernia, Achilles tendon contracture, Gait disturbance... |
ORPHA:363528 |
Diamond-Blackfan Anemia 10 |
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Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... |
OMIM:613309 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Rhabdomyolysi... |
ORPHA:79102 |
Mosaic Trisomy 1 |
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Long toe, Broad toe, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Congenit... |
ORPHA:1692 |
Oculocerebrocutaneous Syndrome |
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Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of... |
ORPHA:1647 |
Microphthalmia, Syndromic 9 |
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Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... |
OMIM:601186 |
Chromosome 1Q41-Q42 Deletion Syndrome |
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Sandal gap, Ventricular septal defect, Congenital diaphragmatic hernia, 3-4 finger cutaneous synd... |
OMIM:612530 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Atrial septal defect, Paten... |
OMIM:245600 |
Autosomal Recessive Spondylocostal Dysostosis |
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Finger syndactyly, Anomalous pulmonary venous return, Camptodactyly of finger, Congenital diaphra... |
ORPHA:2311 |
2Q37 Microdeletion Syndrome |
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Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Small hand,... |
ORPHA:1001 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Ventricular septal defect, Arachnodactyly, Congenital diaphragmatic hernia, Sandal gap, Clinodact... |
OMIM:617602 |
Chromosome 15Q25 Deletion Syndrome |
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Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Long fingers, Coronary ... |
OMIM:614294 |
Donnai-Barrow Syndrome |
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Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:222448 |
Emanuel Syndrome |
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Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma... |
ORPHA:96170 |
Thakker-Donnai Syndrome |
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Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... |
ORPHA:1780 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:611812 |
Lowry-Maclean Syndrome |
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Atrioventricular canal defect, Congenital diaphragmatic hernia |
ORPHA:2409 |
Acro-Renal-Mandibular Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Congenital diaphragmatic hernia, Split hand, Hypoplasi... |
ORPHA:958 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Congenital diaphragma... |
OMIM:600001 |
Craniorachischisis |
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Congenital diaphragmatic hernia, Sirenomelia |
ORPHA:63260 |
Oligomeganephronia |
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Small for gestational age, Congenital diaphragmatic hernia, Secundum atrial septal defect, Elevat... |
ORPHA:2260 |
Cardiac-Urogenital Syndrome |
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Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia,... |
OMIM:618280 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:219100 |
Matthew-Wood Syndrome |
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Congenital diaphragmatic hernia |
ORPHA:2470 |
Vacterl/Vater Association |
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Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Aplasia/Hypoplasia... |
ORPHA:887 |
White-Sutton Syndrome |
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Waddling gait, Facial hypotonia, Congenital diaphragmatic hernia, Obesity, Atrial septal defect, ... |
OMIM:616364 |
Axial Mesodermal Dysplasia Spectrum |
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Congenital diaphragmatic hernia |
ORPHA:1834 |
Arterial Tortuosity Syndrome |
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Ventricular hypertrophy, Aortic regurgitation, Congenital diaphragmatic hernia, Flexion contractu... |
OMIM:208050 |
Focal Dermal Hypoplasia |
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Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Diastasis ... |
ORPHA:2092 |
Multiple Pterygium Syndrome, Escobar Variant |
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Syndactyly, Multiple joint contractures, Arachnodactyly, Rocker bottom foot, Congenital diaphragm... |
OMIM:265000 |
Mycophenolate Mofetil Embryopathy |
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Ventricular septal defect, Foot polydactyly, Congenital diaphragmatic hernia, Short palm |
ORPHA:268249 |
Distal Deletion 15Q |
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Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... |
ORPHA:1596 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Small for gestational... |
ORPHA:2255 |
Acrofacial Dysostosis 1, Nager Type |
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Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Ventricular septal defect, Broad ... |
OMIM:154400 |
Fryns Syndrome |
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Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Clinodactyly of the 5th fing... |
ORPHA:2059 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Postaxial polydactyly, Congenital diaphragmatic hernia, Micromelia, Preaxial polydactyly, Atrial ... |
OMIM:616546 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
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Atrial septal defect, Patent ductus arteriosus, Congenital diaphragmatic hernia, Short distal pha... |
OMIM:614080 |
Mullegama-Klein-Martinez Syndrome |
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Facial palsy, Congenital diaphragmatic hernia, Unsteady gait, Hypoplastic left heart, Apical musc... |
OMIM:301022 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec... |
OMIM:309801 |
Limb Body Wall Complex |
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Duplication of hand bones, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic h... |
ORPHA:2369 |
White-Sutton Syndrome |
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Facial hypotonia, Congenital diaphragmatic hernia, Abnormal heart morphology |
ORPHA:468678 |
Poland Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Dextrocardia, Congenital diaphragmatic hernia... |
ORPHA:2911 |
Acrorenal-Mandibular Syndrome |
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Hypoplasia of the ulna, Toe syndactyly, Congenital diaphragmatic hernia, Split hand, Elbow flexio... |
OMIM:200980 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, 2-3 toe cut... |
OMIM:618454 |
Craniofrontonasal Syndrome |
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Toe syndactyly, Broad hallux, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, 3-... |
OMIM:304110 |
Aymé-Gripp Syndrome |
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Pericarditis, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Pericardial ef... |
ORPHA:1272 |
Denys-Drash Syndrome |
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Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia |
OMIM:194080 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Short humerus, Hypertriglyceridemia, Thin long bone diaphyses, Camptodactyly of finger,... |
ORPHA:3455 |
Pseudoaminopterin Syndrome |
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Posterolateral diaphragmatic hernia, Brachydactyly, Overlapping toe, Postaxial polydactyly, Short... |
ORPHA:221120 |
7Q11.23 Microduplication Syndrome |
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Ventricular septal defect, Congenital diaphragmatic hernia, Unsteady gait, Obesity, Dysmetria, At... |
ORPHA:96121 |
Trisomy 18 |
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Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Postaxial ha... |
ORPHA:3380 |
Simpson-Golabi-Behmel Syndrome |
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Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Congenital... |
ORPHA:373 |
Parkes Weber Syndrome |
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Abnormal femoral metaphysis morphology, Muscle hypertrophy of the lower extremities, Lower limb m... |
ORPHA:90307 |
Perlman Syndrome |
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Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia |
OMIM:267000 |
Holoprosencephaly |
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Hyponatremia, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphrag... |
ORPHA:2162 |
Opitz Gbbb Syndrome |
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Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he... |
ORPHA:2745 |
Cornelia De Lange Syndrome 1 |
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Ventricular septal defect, Congenital diaphragmatic hernia, Micromelia, Proximal placement of thu... |
OMIM:122470 |
Pagod Syndrome |
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Situs inversus totalis, Hypoplastic left heart, Congenital diaphragmatic hernia |
ORPHA:991 |
Diets-Jongmans Syndrome |
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Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:618846 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Ventricular septal defect, Broad hallux, Congenital diaphragmatic hernia, Tapered finger, 1-2 toe... |
OMIM:301044 |
Mowat-Wilson Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Generalized muscle hypertrophy, Abnormal hea... |
OMIM:235730 |
Hydrolethalus Syndrome 1 |
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Ventricular septal defect, Preaxial hand polydactyly, Complete atrioventricular canal defect, Pos... |
OMIM:236680 |
Smith-Lemli-Opitz Syndrome |
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Finger syndactyly, Ventricular septal defect, Rhizomelia, Congenital diaphragmatic hernia, Proxim... |
ORPHA:818 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Posterolateral diaphragmatic hernia, Sandal gap, Morgagni diaphragmatic hernia, Patent foramen ov... |
OMIM:613177 |
Iniencephaly |
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Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Talipes equinovarus, Arthrogrypo... |
ORPHA:63259 |
Wolf-Hirschhorn Syndrome |
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Abnormal heart valve morphology, Arachnodactyly, Short hallux, Congenital diaphragmatic hernia, S... |
ORPHA:280 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:617641 |
Kabuki Syndrome |
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Congenital diaphragmatic hernia, Small hand, Abnormal cardiac septum morphology, Short middle pha... |
ORPHA:2322 |
Cardiospondylocarpofacial Syndrome |
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Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,... |
OMIM:157800 |
Microphthalmia With Linear Skin Defects Syndrome |
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Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... |
ORPHA:2556 |
Monosomy 9P |
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Abnormality of the tarsal bones, Postaxial hand polydactyly, Proximal placement of thumb, Congeni... |
ORPHA:261112 |
Lambert-Eaton Myasthenic Syndrome |
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Progressive proximal muscle weakness |
ORPHA:43393 |
Beckwith-Wiedemann Syndrome |
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Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Elevated circulating alpha-fe... |
ORPHA:116 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Congenital diaphragmatic hernia, Short palm, Atrial septal defect, Patent ductus arteriosus, Card... |
OMIM:312870 |
C Syndrome |
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Toe syndactyly, Congenital diaphragmatic hernia, Micromelia, Aplasia/Hypoplasia of the abdominal ... |
ORPHA:1308 |
Tetraamelia Syndrome 1 |
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Congenital diaphragmatic hernia |
OMIM:273395 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:614437 |
Coffin-Siris Syndrome 1 |
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Prominent fingertip pads, Ventricular septal defect, Sandal gap, Congenital diaphragmatic hernia,... |
OMIM:135900 |
Focal Dermal Hypoplasia |
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Short metacarpal, Toe syndactyly, Diastasis recti, Congenital diaphragmatic hernia, Postaxial han... |
OMIM:305600 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Hallux valgus, Bicuspid aortic valve, Short metatarsal, Short 4th metacarpal, Muscle hypertrophy ... |
ORPHA:1772 |
Cornelia De Lange Syndrome |
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Toe syndactyly, Ventricular septal defect, Abnormal morphology of ulna, Congenital diaphragmatic ... |
ORPHA:199 |
Witteveen-Kolk Syndrome |
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Toe syndactyly, Overlapping toe, Arachnodactyly, Congenital diaphragmatic hernia, Proximal placem... |
OMIM:613406 |
Pallister-Killian Syndrome |
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Ventricular septal defect, Rhizomelia, Congenital diaphragmatic hernia, Mesomelic/rhizomelic limb... |
OMIM:601803 |