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. The disease is neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (MONDO_0859295). Also known as: DPH5-related diphthamide-deficiency syndrome.