To date, eightprobands with mutations in PIGL have been reported, six of them withthe diagnosis of CHIME syndrome (Ng etal., 2012, Knight Johnsonet al., 2017), and two of them presenting clinicalfindings compatible with Mabry syndrome, characterized by mental retardation andhyperphosphatasia (Fujiwara et al.,2015, Pagnamenta et al.,2017). The gene discussed is PIGL; the disease is CHIME syndrome.