Phelan-McDermid syndrome
Phelan-McDermid syndrome
Definition
A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene.
Also known as Phelan McDermid syndrome, Phelan-McDermid syndrome, PHMDS — per MONDO