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Metadata
ID	DOID:0060265
Name	pontocerebellar hypoplasia type 1A
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. https://pubmed.ncbi.nlm.nih.gov/12548734/
Xrefs	MIM:607596 ORDO:2254
Subsets	DO_rare_slim
Parent Relationships	is_a pontocerebellar hypoplasia type 1 is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance