pontocerebellar hypoplasia type 1A

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: vrk1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011866 - pontocerebellar hypoplasia type 1A

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), pontocerebellar hypoplasia type 1 (is_a)