Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
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(Orphanet:363454)
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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 type 2I
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(Orphanet:34515)
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Autosomal recessive spastic paraplegia type 26
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(Orphanet:101006)
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Autosomal recessive spastic paraplegia type 56
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(Orphanet:320411)
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Congenital muscular dystrophy with cerebellar involvement
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(Orphanet:370959)
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Distal arthrogryposis type 10
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(Orphanet:251515)
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GELEOPHYSIC DYSPLASIA 2
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(OMIM:614185)
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Hurler syndrome
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(Orphanet:93473)
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Hurler-Scheie syndrome
|
(Orphanet:93476)
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Mitochondrial myopathy - lactic acidosis - deafness
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(Orphanet:2597)
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Mucopolysaccharidosis type 2
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(Orphanet:580)
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NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
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(OMIM:615643)
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Scheie syndrome
|
(Orphanet:93474)
|
X-linked Charcot-Marie-Tooth disease type 1
|
(Orphanet:101075)
|