Term Name: pontocerebellar hypoplasia type 1A
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 )

Relationships
is a type of: autosomal recessive disease pontocerebellar hypoplasia type 1