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Echinobase
Summary Literature (0)
DOID:0060268 - pontocerebellar hypoplasia type 2B

Disease Ontology Definition:A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.

Synonyms:

Echinobase Genes : tsen2


MIM:
MIM:612389 - pontocerebellar hypoplasia, type 2b; pch2b

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)