A mutation found in IRX5, LOC126862355 (iroquois homeobox 5| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Craniofacial dysplasia - osteopenia syndrome