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Summary Literature (0)
DOID:0112334 - pontocerebellar hypoplasia type 1C

Disease Ontology Definition:A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3.

Synonyms: PCH1C

Xenbase Genes : exosc8


MIM:
MIM:616081 - PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C

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 type 1 (is_a)