CYP11B1 and Niemann-Pick disease: In addition, Syrian Jews carried variants that are less frequent in Ashkenazis and implicated in the following autosomal recessive disorders: achromatopsia, congenital adrenal hyperplasia (CYP11B1 gene), Friedreich ataxia, Gaucher disease, inclusion body myopathy, metachromatic leukodystrophy, Niemann–Pick disease, primary hyperoxaluria type 1, retinitis pigmentosa 28, and Ullrich congenital muscular dystrophy type 1.