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Summary Literature (0)
DOID:0060277 - pontocerebellar hypoplasia type 8

Disease Ontology Definition:A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene.

Synonyms:

Xenbase Genes : chmp1a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013990 - pontocerebellar hypoplasia type 8

MIM:
MIM:614961 - PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): pontocerebellar hypoplasia (is_a)