label: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
label_lc: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
description: A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene. It is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.