A mutation on Chromosome 7 affecting LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis