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Summary Literature (0)
DOID:0060267 - pontocerebellar hypoplasia type 2A

Disease Ontology Definition:A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.

Synonyms:

Xenbase Genes : tsen54

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010190 - pontocerebellar hypoplasia type 2A


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)