A microdeletion at 16p11.2 can result in a number of phenotypic findings.

Inheritance: autosomal dominant

Clinical features:

(1) intellectual disability

(2) autism spectrum disorder

(3) language delay with abnormal speech articulation

(4) variable seizures

(5) variable structural brain lesion (Chiari I malformation, other)

(6) macrocephaly

(7) variable vertebral abnormalities

(8) obesity during adolescence and adulthood

(9) variable kinesigenic dyskinesia

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