Adenylosuccinate lyase deficiency
|
(Orphanet:46)
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Adult polyglucosan body disease
|
(Orphanet:206583)
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Adult-onset autosomal dominant leukodystrophy
|
(Orphanet:99027)
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Autosomal recessive spastic paraplegia type 46
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(Orphanet:320391)
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Autosomal recessive spastic paraplegia type 48
|
(Orphanet:306511)
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Bifunctional enzyme deficiency
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(Orphanet:300)
|
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME4
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(OMIM:615268)
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Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy,and cataracts
|
(OMIM:225740)
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Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
|
(Orphanet:137681)
|
L-2-hydroxyglutaric aciduria
|
(Orphanet:79314)
|
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA
|
(OMIM:608809)
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NARP syndrome
|
(Orphanet:644)
|
Pelizaeus-Merzbacher-like disease
|
(Orphanet:280270)
|
Pelizaeus-Merzbacher-like due to AIMP1 mutation
|
(Orphanet:280293)
|