distal 16p11.2 microdeletion syndrome

Rare Disease

MONDO:0013267

Also Known As

body mass index QTL16chromosome 16p11.2 deletion syndrome, type 220kbdistal 16p11.2 microdeletion syndromedistal del(16)(p11.2)distal monosomy 16p11.2body Mass index quantitative trait locus 16chromosome 16p11.2 deletion syndrome, 220-KBchromosome 16p11.2 deletion syndrome, 220kbobesity, susceptibility to

Definition

Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.