Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
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(Orphanet:209341)
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Autosomal recessive spastic ataxia - optic atrophy - dysarthria
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(Orphanet:254343)
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Autosomal recessive spastic paraplegia type 18
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(Orphanet:209951)
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Benign paroxysmal tonic upgaze of childhood with ataxia
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(Orphanet:1179)
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CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
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(OMIM:615490)
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Joubert syndrome 3
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(OMIM:608629)
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MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES
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(OMIM:613670)
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MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
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(OMIM:613192)
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MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE
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(OMIM:609456)
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NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX
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(OMIM:162370)
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Neutral lipid storage myopathy
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(Orphanet:98908)
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Posterior column ataxia - retinitis pigmentosa
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(Orphanet:88628)
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X-linked spinocerebellar ataxia type 4
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(Orphanet:85292)
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