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Pontocerebellar Hypoplasia Type 1 MeSH Supplementary Concept Data 2023


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 Number
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
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