16p13.11 microdeletion syndrome
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
MONDO:0016894
partial deletion of the short arm of chromosome 16
is_a
16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)
exact
Del(16)(p13.11)
exact
monosomy 16p13.11
exact