A mutation found in HYDIN, LOC121587554 (HYDIN axonemal central pair apparatus protein| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:71020999-71022198) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Primary ciliary dyskinesia 5