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). This evidence concerns the gene CEP78 and Phosphoserine aminotransferase deficiency.