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.

Also known as: Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus), chromosome 16p12.1 deletion syndrome, chromosome 16p12.1 deletion syndrome, type 520kb, chromosome 16p12.1 deletion syndrome, 520-KB, fragile site 16P12, fragile site, Distamycin a type, Rare, fra(16)(p12.1)

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