chromosome 16p12.1 deletion syndrome, 520kb
A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.
MONDO:0002254
syndromic disease
is_a
MONDO:0016894
partial deletion of the short arm of chromosome 16
is_a
Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)
exact
chromosome 16p12.1 deletion syndrome
exact
chromosome 16p12.1 deletion syndrome, type 520kb
exact