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Summary Literature (0)
DOID:0060265 - pontocerebellar hypoplasia type 1A

Disease Ontology 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.

Synonyms:

Xenbase Genes : vrk1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011866 - pontocerebellar hypoplasia type 1A


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), pontocerebellar hypoplasia (is_a)