Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities (NEDHFS)

Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities, is also known as nedhfs. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities is PGM2L1 (Phosphoglucomutase 2 Like 1). Affiliated tissues include skin and brain, and related phenotypes are intellectual disability and global developmental delay