chromosome 16p11.2 deletion syndrome, 220-kb

A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb reg

A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene.

Signs and symptoms

• Tall stature
• Unilateral renal agenesis
• Global developmental delay
• Aganglionic megacolon
• Obesity

Also known as: distal 16p11.2 microdeletion syndrome