EXOSC6

Neurodevelopmental disorder with ataxia and cerebellar atrophy (exosomopathy)

1 article(s) in the watch · Constitutional genetics

Curated publications

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay

Neurodevelopmental disorder with ataxia and cerebellar atrophy (exosomopathy)

Automatic aggregation page — a clinical introduction may be added.