Variants in CHMP1A cause pontocerebellar hypoplasia type 8 (OMIM:614961), with similar phenotypes to patients with VPS4A variants: severe psychomotor retardation, pontocerebellar hypoplasia, decreased cerebral white matter, thin corpus callosum, abnormal movements, hypotonia, spasticity, and variable visual defects. This evidence concerns the gene VPS4A and pontocerebellar hypoplasia type 8.