For example, the proband was suggested to have a dominant variant that was causative for adrenoleukodystrophy (ALD, MIM #300100) [3]; ABCD1, chrX:153,008,483 G>A; p.G608D, as well as to be homozygous for an allele causative for spinal muscular atrophy with respiratory distress type 1 (SMARD, MIM #604320) [4]; IGHMBP2, chr11:68,705,674C>A; pT879K. The gene discussed is IGHMBP2; the disease is adrenoleukodystrophy.