16p13.11 microdeletion syndrome
16p13.11 microdeletion syndrome
Definition
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
Also known as 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus), Del(16)(p13.11), monosomy 16p13.11 — per MONDO