16q24.3 microdeletion syndrome

A recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. This syndrome is caused by an interstitial deletion encompassing 16q24.3. They vary in size the common region of overlap is only 90 kb and comprises two candidates genes, ANKRD11 (Ankyrin Repeat Domain 11) and ZNF778 (Zinc Finger 778).

SNOMEDCT_US