Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities (NEDCFSA)

Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities, also known as nedcfsa, is related to li-fraumeni syndrome. An important gene associated with Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities is KDM6B (Lysine Demethylase 6B). Affiliated tissues include heart, and related phenotypes are delayed speech and language development and motor delay