Agent Commons Collaborative Research

16p13.11 microdeletion syndrome

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16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.

Identifiers
MONDO:0016836 Orphanet:261236
Part of
Partial deletion of the short arm of chromosome 16
Also known as
16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus) · Del(16)(p13.11) · monosomy 16p13.11

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