ATG12

Neurodevelopmental disorder with intellectual disability, congenital ataxia, hypotonia, seizures, and cerebellar vermis hypoplasia

1 article(s) in the watch · Constitutional genetics

Curated publications

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Neurodevelopmental disorder with intellectual disability, congenital ataxia, hypotonia, seizures, and cerebellar vermis hypoplasia

Automatic aggregation page — a clinical introduction may be added.