MeSH Browser

MeSH Supplementary: Pontocerebellar Hypoplasia Type 1
Unique ID: C548069
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C548069
Entry Term(s): Pontocerebellar Hypoplasia With Anterior Horn Cell Disease; Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy; Pontocerebellar Hypoplasia, Type 1a
Registry Numbers: 0
Heading Mapped to: *Olivopontocerebellar Atrophies
Frequency: 21
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/11/10

Pontocerebellar Hypoplasia Type 1 MeSH Supplementary Concept Data 2025