Distal 16p11.2 microdeletion syndrome

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.

Also known as: body mass index QTL16, chromosome 16p11.2 deletion syndrome, type 220kb, distal 16p11.2 microdeletion syndrome, distal del(16)(p11.2), distal monosomy 16p11.2, body Mass index quantitative trait locus 16, chromosome 16p11.2 deletion syndrome, 220-KB, chromosome 16p11.2 deletion syndrome, 220kb

2 clinical trials for this condition and its sub-types.