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Summary Literature (0)
DOID:0060279 - pontocerebellar hypoplasia type 10

Disease Ontology Definition:A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene.

Synonyms:

Xenbase Genes : clp1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014349 - pontocerebellar hypoplasia type 10

MIM:
MIM:615803 - PONTOCEREBELLAR HYPOPLASIA, TYPE 10; PCH10

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)