Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties

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

0 clinical trials for this condition and its sub-types, 0 tagged with Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties itself.