distal 16p11.2 microdeletion syndrome
body mass index QTL16
exact
chromosome 16p11.2 deletion syndrome, type 220kb
exact
distal 16p11.2 microdeletion syndrome
exact
distal del(16)(p11.2)
exact
distal monosomy 16p11.2
exact
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.
MONDO:0016894
partial deletion of the short arm of chromosome 16
is_a