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Echinobase
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:

Echinobase Genes :


OMIM:
MIM:612390 - pontocerebellar hypoplasia, type 2c; pch2c

Other Model Organisms: AGR, 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)