PPFIA3 encodes a scaffolding protein that is essential to the assembly of the synaptic active site and release of neurotransmitters. Loss of function variants in PPFIA3 cause a syndromic neurodevelopmental disorder characterized by microcephaly or macrocephaly, delayed development, variable cognitive ability, autistic features, epilepsy, hypotonia, dysmorphic features, and dental anomalies.
PPFIA3