Chromosome 16p12.1 deletion syndrome, 520kb

Definition

A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.

Also known as chromosome 16p12.1 deletion syndrome, chromosome 16p12.1 deletion syndrome, type 520kb, Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) — per MONDO

Also identified as

• DOID 0060399 per MONDO
• MESH C565001 per MONDO
• NCIT C129875 per MONDO
• OMIM 136570 per MONDO
• UMLS C3149276 per MONDO