Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted. The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov. Updates regarding government operating status and resumption of normal operations can be found at opm.gov.

NLM Logo

Pontocerebellar Hypoplasia Type 1 MeSH Supplementary Concept Data 2025


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 Preferred
page delivered in 0.004s