WWOX and Down syndrome: WWOX pathogenic biallelic variants are implicated in a spectrum of neurological phenotypes, ranging between autosomal recessive spinocerebellar ataxia type 12 (SCAR12; MIM 614322) to the most severe WOREE syndrome (Gribaa et al., 2007; Abdel-Salam et al., 2014; Mignot et al., 2015).