PAGR1 and neurodevelopmental disorder: Hagit Daum et al. found a homozygous missense variant of the PA1 gene (c.274A > G; p.Ser92Gly, NM_024516.4) in three cases of Ashkenazi Jews ancestry from two completely unrelated families, exhibiting severe neurodevelopmental disorders including prenatal clinical features of microcephaly, polyhydramnios, severe developmental delay, dysmorphism, neurological deficits, and infancy death.