CHMP1A and pontocerebellar hypoplasia type 8: 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.