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
