Neurodevelopmental Disorder with Microcephaly and Gray Sclerae (NEDMIGS)

Neurodevelopmental Disorder with Microcephaly and Gray Sclerae, also known as severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, is related to dandy-walker syndrome and hydrolethalus syndrome 1. An important gene associated with Neurodevelopmental Disorder with Microcephaly and Gray Sclerae is PUS3 (Pseudouridine Synthase 3). Affiliated tissues include skin and brain, and related phenotypes are seizure and coarse facial features