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DOID:0112323 - pontocerebellar hypoplasia type 1D
Disease Ontology Definition:A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27.
Synonyms: PCH1D
Xenbase Genes : exosc9
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee