pontocerebellar hypoplasia type 2E

Summary

DOID:0060271 - pontocerebellar hypoplasia type 2E

Disease Ontology Definition:A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 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

: vps53

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014370 - pontocerebellar hypoplasia type 2E

MONDO:0014370 - pontocerebellar hypoplasia type 2E

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 2 (is_a)