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Summary Literature (0)
DOID:0060270 - pontocerebellar hypoplasia type 2D

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 SEPSECS gene.

Synonyms:

Xenbase Genes : sepsecs

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013438 - pontocerebellar hypoplasia type 2D

MIM:
MIM:613811 - PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D

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)