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Summary Literature (0)
DOID:0060278 - pontocerebellar hypoplasia type 9

Disease Ontology Definition:A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.

Synonyms:

Xenbase Genes : ampd2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014351 - pontocerebellar hypoplasia type 9

MIM:
MIM:615809 - PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9

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)