Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Definition
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.
Also known as DPH5-related diphthamide-deficiency syndrome — per MONDO