Neurodevelopmental Disorder with Hypotonia, Facial Dysmorphism, and Brain Abnormalities (NEDHFBA)

Neurodevelopmental Disorder with Hypotonia, Facial Dysmorphism, and Brain Abnormalities, is also known as nedhfba. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Facial Dysmorphism, and Brain Abnormalities is PPP1R21 (Protein Phosphatase 1 Regulatory Subunit 21). Affiliated tissues include brain and heart, and related phenotypes are hypotonia and global developmental delay