Rare Disease Library

PRDM8-related progressive myoclonus epilepsy

Early-onset Lafora body disease

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

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

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

IL10-related early-onset IBD · IL10-related early-onset inflammatory bowel disease

Infantile Krabbe disease

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

Lafora disease

EPM2 · PME type 2

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

Late-onset Steinert myotonic dystrophy

Late-onset Steinert disease · Late-onset myotonic dystrophy type 1

Moyamoya disease with early-onset achalasia

Tay-Sachs disease, adult form

GM2 gangliosidosis, Tay-Sachs variant, adult form · GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form

Young-onset Parkinson disease

Early-onset Parkinson disease · YOPD