Term Name: | pontocerebellar hypoplasia type 1A |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060265] ( DOID:0060265 ) |