PSAT1 and Phosphoserine aminotransferase deficiency: This deletion encompasses the CEP78 and PSAT1 (MIM #610936) genes, the latter of which has so far only been implicated in recessive phosphoserine aminotransferase deficiency (MIM # 610992) and Neu-Laxova syndrome 2 (MIM # 616038) (Hart et al., 2007; Acuna-Hidalgo et al., 2014).