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ID | DOID:0060265 |
Name | pontocerebellar hypoplasia type 1A |
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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