Neurodevelopmental Disorder with Dysmorphic Facies and Ischiopubic Hypoplasia (NEDFIH)

Neurodevelopmental Disorder with Dysmorphic Facies and Ischiopubic Hypoplasia, is also known as nedfih. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies and Ischiopubic Hypoplasia is NAE1 (NEDD8 Activating Enzyme E1 Subunit 1). Affiliated tissues include brain and bone, and related phenotypes are global developmental delay and recurrent respiratory infections