Human genes for pontocerebellar hypoplasia type 1A
Pontocerebellar hypoplasia type 1A [DOID:0060265]
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.
Synonyms: pontocerebellar hypoplasia type 1A, DOID:0060265