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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:
Echinobase Genes
:
vrk1
| MIM:607596 - pontocerebellar hypoplasia, type 1a; pch1a |
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)