Rare Disease Library

Young-onset Parkinson disease

Early-onset Parkinson disease · YOPD

Dystonia 16

DYT16 · Early-onset dystonia parkinsonism

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

Infantile Krabbe disease

Krabbe disease, classic form · Krabbe disease, early-onset

Moyamoya disease with early-onset achalasia

PRDM8-related progressive myoclonus epilepsy

Early-onset Lafora body disease