label: PPFIA3-related neurodevelopmental disorder
label_lc: ppfia3-related neurodevelopmental disorder
description: A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This disorder is characterised by developmental delay and intellectual disability. Most patients present variable additional features, including dysmorphisms, microcephaly or macrocephaly, hypotonia, autism spectrum disorder or autistic features, abnormal electroencephalogram, and epilepsy.