ABCD1 and X-linked adrenoleukodystrophy: In two cases, the SVs caused monogenic diseases; the homozygous 22q13.33 deletion in P3 results in the loss of ARSA (Metachromatic Leukodystrophy, MIM 250100), and the hemizygous Xq28 deletion in the loss of ABCD1 in P6 (Adrenoleukodystrophy, MIM 300100); however, this was known before lrGS.