EXOSC9, exosome component 9, 5393

N. diseases: 55; N. variants: 8
Disease: Peripheral motor neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.010 GeneticVariation disease BEFREE Recently, two variants in the novel PCH1 associated protein EXOSC9 p.(Leu14Pro) and p.(Arg161*) have been identified in 4 unrelated patients exhibiting a severe phenotype involving cerebellar hypoplasia, axonal motor neuropathy, hypotonia, feeding difficulties, and respiratory insufficiency (PCH1D). 30690203 2020