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.
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
DPH5-related diphthamide-deficiency syndrome
exact
SPCC576.14