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Summary Literature (0)
DOID:0060269 - pontocerebellar hypoplasia type 2C

Disease Ontology Definition:A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.

Synonyms:

Xenbase Genes : tsen34

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012891 - pontocerebellar hypoplasia type 2C


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)