Antley-Bixler Syndrome with Disordered Steroidogenesis
Known as: DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY, Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis, Cytochrome P450 Oxidoreductase Deficiency
Autosomally recessive Antley-Bixler Syndrome with ambiguous genitalia and disturbed steroidogenesis, and associated with mutations in the POR gene…