/chromosome 16p12.1 deletion syndrome, 520kb

chromosome 16p12.1 deletion syndrome, 520kb

Rare Disease

MONDO:0007631

Also Known As

Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)chromosome 16p12.1 deletion syndromechromosome 16p12.1 deletion syndrome, type 520kbchromosome 16p12.1 deletion syndrome, 520-KBfragile site 16P12fragile site, Distamycin a type, Rare, fra(16)(p12.1)

Definition

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