ALDH18A1 and de Barsy syndrome: De Barsy syndrome (DBS), previously known as ARCL3A (ARCL3A; MIM #219150), forms a phenotypic continuum with ARCL2 and patients with DBS have been characterized for mutations in the aldehyde dehydrogenase 18 gene (ALDH18A1, MIM *138,250) (Guernsey et al., 2009; Skidmore et al., 2011) as well as in ATP6V0A2 and PYCR1 (Leao‐Teles, Quelhas, Vilarinho, & Jaeken, 2010; Zampatti et al., 2012).