PJA1 and Neurodevelopmental delay: Remarkably, a hemizygous missense variant c.1126C>T (p.Arg376Cys; p.R376C) in the Praja ring finger ubiquitin ligase gene PJA1 (Fig. 1A) was highly recurrent and together with a subsequent targeted sequencing of additional set of 463 independent cases of NDD (Tables S2 and S3), it appeared in seven male patients of NDD from five independent Japanese families (Fig. 1B, Tables S5 and S8, and Supplementary Data).