pontocerebellar hypoplasia type 1B

Summary

DOID:0060266 - pontocerebellar hypoplasia type 1B

Disease Ontology Definition:A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: exosc3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013853 - pontocerebellar hypoplasia type 1B

MONDO:0013853 - pontocerebellar hypoplasia type 1B

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)