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Autosomal dominant Charcot-Marie-Tooth disease type 2A1
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(Orphanet:99946)
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Autosomal dominant Charcot-Marie-Tooth disease type 2C
|
(Orphanet:99937)
|
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Autosomal dominant Charcot-Marie-Tooth disease type 2D
|
(Orphanet:99938)
|
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Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
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(Orphanet:100043)
|
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Autosomal recessive centronuclear myopathy
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(Orphanet:169186)
|
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Autosomal recessive spastic paraplegia type 21
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(Orphanet:101001)
|
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CLN1 disease
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(Orphanet:228329)
|
|
COMPLEX I, SUBUNIT ND2
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(OMIM:516001)
|
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COMPLEX I, SUBUNIT ND5
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(OMIM:516005)
|
|
COMPLEX I, SUBUNIT ND6
|
(OMIM:516006)
|
|
COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I
|
(OMIM:516030)
|
|
CYTOCHROME b OF COMPLEX III
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(OMIM:516020)
|
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CYTOCHROME c OXIDASE III
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(OMIM:516050)
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Charcot-Marie-Tooth disease type 2B1
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(Orphanet:98856)
|
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Distal hereditary motor neuropathy type 5
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(Orphanet:139536)
|
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Distal hereditary motor neuropathy type 7
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(Orphanet:139589)
|
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Episodic ataxia type 3
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(Orphanet:79135)
|
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Familial hyperaldosteronism type 1
|
(Orphanet:403)
|
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Familial temporal epilepsy
|
(Orphanet:98819)
|
|
MASTICATORY MUSCLES, HYPERTROPHY OF
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(OMIM:154850)
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MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
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(OMIM:601462)
|
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MYOPATHY, MYOSIN STORAGE
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(OMIM:608358)
|
|
Multiple keratoacanthoma, Ferguson-Smith type
|
(Orphanet:65748)
|
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PERIODONTITIS, CHRONIC
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(OMIM:260950)
|
|
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
|
(OMIM:610489)
|
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Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
|
(Orphanet:171848)
|
|
Primary pigmented nodular adrenocortical disease
|
(Orphanet:189439)
|
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Progressive hemifacial atrophy
|
(Orphanet:1214)
|
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Pulmonary alveolar microlithiasis
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(Orphanet:60025)
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SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE
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(OMIM:601700)
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Spheroid body myopathy
|
(Orphanet:268129)
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Spinocerebellar ataxia type 18
|
(Orphanet:98771)
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