Argininemia
|
(Orphanet:90)
|
Autosomal dominant Emery-Dreifuss muscular dystrophy
|
(Orphanet:98853)
|
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
|
(Orphanet:363454)
|
Autosomal dominant limb-girdle muscular dystrophy type 1A
|
(Orphanet:266)
|
Autosomal recessive Emery-Dreifuss muscular dystrophy
|
(Orphanet:98855)
|
Autosomal recessive limb-girdle muscular dystrophy type 2C
|
(Orphanet:353)
|
Autosomal recessive limb-girdle muscular dystrophy type 2D
|
(Orphanet:62)
|
Autosomal recessive limb-girdle muscular dystrophy type 2E
|
(Orphanet:119)
|
Autosomal recessive limb-girdle muscular dystrophy type 2I
|
(Orphanet:34515)
|
Behr syndrome
|
(Orphanet:1239)
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Congenital muscular dystrophy type 1B
|
(Orphanet:98893)
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Congenital muscular dystrophy with cerebellar involvement
|
(Orphanet:370959)
|
Costello syndrome
|
(Orphanet:3071)
|
Emery-Dreifuss muscular dystrophy
|
(Orphanet:261)
|
Infantile-onset ascending hereditary spastic paralysis
|
(Orphanet:293168)
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
|
(OMIM:611091)
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MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE)
|
(OMIM:615418)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6
|
(OMIM:608840)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5
|
(OMIM:606612)
|
Mucopolysaccharidosis type 2
|
(Orphanet:580)
|
Myosclerosis
|
(Orphanet:289380)
|
Myotilin-related myofibrillar myopathy without spheroid body
|
(Orphanet:98911)
|
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
|
(Orphanet:171848)
|
Pyruvate dehydrogenase E2 deficiency
|
(Orphanet:79244)
|
X-linked Charcot-Marie-Tooth disease type 1
|
(Orphanet:101075)
|
X-linked Emery-Dreifuss muscular dystrophy
|
(Orphanet:98863)
|
[DEL]EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED
|
(OMIM:310300)
|