Pontocerebellar Hypoplasia Type 1 [Supplementary Concept]
A hereditary neurodegenerative disorder characterized by central and peripheral motor dysfunction associated with ANTERIOR HORN CELL degeneration. Mutations in the VRK1 gene have been identified. OMIM: 607596
Date introduced: August 25, 2010
MeSH Unique ID: C548069
Heading Mapped to:
Entry Terms:
- Pontocerebellar Hypoplasia, Type 1a
- Pontocerebellar Hypoplasia With Anterior Horn Cell Disease
- Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy