Adult-onset dystonia-parkinsonism
|
(Orphanet:199351)
|
Amish infantile epilepsy syndrome
|
(Orphanet:171714)
|
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2
|
(OMIM:610185)
|
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
|
(Orphanet:137681)
|
Huntington disease-like 1
|
(Orphanet:157941)
|
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
|
(OMIM:611722)
|
L-2-hydroxyglutaric aciduria
|
(Orphanet:79314)
|
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE
|
(OMIM:612947)
|
Pantothenate kinase-associated neurodegeneration
|
(Orphanet:157850)
|
Pelizaeus-Merzbacher-like disease
|
(Orphanet:280270)
|
Pelizaeus-Merzbacher-like due to AIMP1 mutation
|
(Orphanet:280293)
|
WARBURG MICRO SYNDROME 2
|
(OMIM:614225)
|