3M syndrome
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(Orphanet:2616)
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Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
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(Orphanet:363454)
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Autosomal dominant limb-girdle muscular dystrophy type 1F
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(Orphanet:55595)
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Autosomal recessive Emery-Dreifuss muscular dystrophy
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(Orphanet:98855)
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Autosomal recessive centronuclear myopathy
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(Orphanet:169186)
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Autosomal recessive limb girdle muscular dystrophy type 2A
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(Orphanet:267)
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Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
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(Orphanet:363543)
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Autosomal recessive limb-girdle muscular dystrophy type 2B
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(Orphanet:268)
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Autosomal recessive limb-girdle muscular dystrophy type 2C
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(Orphanet:353)
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Autosomal recessive limb-girdle muscular dystrophy type 2D
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(Orphanet:62)
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Autosomal recessive limb-girdle muscular dystrophy type 2E
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(Orphanet:119)
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Autosomal recessive limb-girdle muscular dystrophy type 2F
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(Orphanet:219)
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Autosomal recessive limb-girdle muscular dystrophy type 2G
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(Orphanet:34514)
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Autosomal recessive limb-girdle muscular dystrophy type 2H
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(Orphanet:1878)
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Autosomal recessive limb-girdle muscular dystrophy type 2I
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(Orphanet:34515)
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Autosomal recessive limb-girdle muscular dystrophy type 2M
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(Orphanet:206554)
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Camptodactyly syndrome, Guadalajara type 1
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(Orphanet:1327)
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Cardiodysrhythmic potassium-sensitive periodic paralysis
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(Orphanet:37553)
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Emery-Dreifuss muscular dystrophy
|
(Orphanet:261)
|
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1
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(OMIM:158900)
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FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2
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(OMIM:158901)
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Facioscapulohumeral dystrophy
|
(Orphanet:269)
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Frontometaphyseal dysplasia
|
(Orphanet:1826)
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Glycogen storage disease due to acid maltase deficiency, late-onset
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(Orphanet:420429)
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Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
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(Orphanet:79091)
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INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 1
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(OMIM:167320)
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Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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(Orphanet:52430)
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LEOPARD SYNDROME 1
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(OMIM:151100)
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Langer-Giedion syndrome
|
(Orphanet:502)
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MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL
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(OMIM:310095)
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
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(OMIM:616052)
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MYASTHENIC SYNDROME, CONGENITAL, 14
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(OMIM:616228)
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MYOPATHY, MYOSIN STORAGE
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(OMIM:608358)
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Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1
|
(OMIM:600462)
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NEMALINE MYOPATHY 4
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(OMIM:609285)
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Neurodegeneration with brain iron accumulation due to C19orf12 mutation
|
(Orphanet:289560)
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Noonan syndrome
|
(Orphanet:648)
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Noonan syndrome with multiple lentigines
|
(Orphanet:500)
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OTOFACIOCERVICAL SYNDROME 1
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(OMIM:166780)
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OTOFACIOCERVICAL SYNDROME 2
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(OMIM:615560)
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Otofaciocervical syndrome
|
(Orphanet:2792)
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SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
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(OMIM:300695)
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SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY
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(OMIM:181405)
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THREE M SYNDROME 1
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(OMIM:273750)
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THREE M SYNDROME 2
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(OMIM:612921)
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TRICHORHINOPHALANGEAL SYNDROME, TYPE I
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(OMIM:190350)
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Trichorhinophalangeal syndrome type 1 and 3
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(Orphanet:77258)
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VACUOLAR NEUROMYOPATHY
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(OMIM:601846)
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Waardenburg syndrome
|
(Orphanet:3440)
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Wrinkly skin syndrome
|
(Orphanet:2834)
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X-linked myopathy with postural muscle atrophy
|
(Orphanet:178461)
|