has material basis in germline mutation in PPFIA3 Mendelian neurodevelopmental disorder PPFIA3-related neurodevelopmental disorder https://github.com/monarch-initiative/mondo/issues/8489 MONDO:1040014 OMIM:621122 https://github.com/monarch-initiative/mondo/issues/8160 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.