OBO ID: DOID:0060265 |
Term Name: | pontocerebellar hypoplasia type 1A | Search Ontology: | |
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Definition: | A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. https://www.omim.org/entry/607596 | ||
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Ontology: | Human Disease ( DOID:0060265 ) |
OTHER pontocerebellar hypoplasia type 1A PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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