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.
MONDO:0016894
partial deletion of the short arm of chromosome 16
is_a
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