Abetalipoproteinemia
|
(Orphanet:14)
|
Adult polyglucosan body disease
|
(Orphanet:206583)
|
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
|
(Orphanet:313808)
|
Brain demyelination due to methionine adenosyltransferase deficiency
|
(Orphanet:168598)
|
CACH syndrome
|
(Orphanet:135)
|
CADASIL
|
(Orphanet:136)
|
Canavan disease
|
(Orphanet:141)
|
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
|
(Orphanet:70472)
|
Encephalopathy due to prosaposin deficiency
|
(Orphanet:139406)
|
Krabbe disease
|
(Orphanet:487)
|
Leber plus disease
|
(Orphanet:99718)
|
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
|
(OMIM:249900)
|
MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO
|
(OMIM:126200)
|
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
|
(Orphanet:279934)
|
Multiple sulfatase deficiency
|
(Orphanet:585)
|
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
|
(OMIM:614886)
|
Peroxisomal acyl-CoA oxidase deficiency
|
(Orphanet:2971)
|
Sjögren-Larsson syndrome
|
(Orphanet:816)
|
Spinocerebellar ataxia type 23
|
(Orphanet:101108)
|
Sporadic Leigh syndrome
|
(Orphanet:255199)
|
[DEL] LEIGH SYNDROME, X-LINKED
|
(OMIM:308930)
|