NIN and Global developmental delay: Missense variants in the NIN gene have been previously reported in association with MPD (MIM614851), SEMDJL2 and one family with progressive high frequency hearing loss.2-4 Dauber et alreported two sisters with features of MPD with compound heterozygote variants in the NIN gene chr14:51224083T > C; c.3665A > G (pQ1222R)/chr14:51211022T > C; c.5126A > G p.N1709S.2 The sisters had severe prenatal and postnatal growth retardation, severe microcephaly, seizures and developmental delay.