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Summary Literature (0)
DOID:0060271 - pontocerebellar hypoplasia type 2E

Disease Ontology Definition:A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13.

Synonyms:

Xenbase Genes : vps53

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014370 - pontocerebellar hypoplasia type 2E

MIM:
MIM:615851 - PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E

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)