pontocerebellar hypoplasia type 1A (DOID:0060265)
Alliance: disease page
Alt IDs: OMIM:607596, ORDO:2254
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.