Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies (NEDDFL)

Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies, also known as neddfl, is related to microcephaly and silver-russell syndrome 1. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies is BPTF (Bromodomain PHD Finger Transcription Factor), and among its related pathways/superpathways are PKMTs methylate histone lysines and Fc-GammaR Pathway. Affiliated tissues include pituitary, and related phenotypes are global developmental delay and delayed speech and language development