DISEASES

Disease-gene associations mined from literature

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