Among these mutations of the ABCD1 gene, two mutations c.217C>T and c.160_170delACGCAGGAGGC had not been previously in the dbSNP, 1,000 Genomes, gnomAD, or X-ALD database (www.x-ald.nl). The gene discussed is ABCD1; the disease is X-linked adrenoleukodystrophy.