PIK3R1 mutations were identified in SHORT syndrome in 2013 (Chudasama et al., 2013; Dyment et al., 2013; Thauvin-Robinet et al., 2013), nearly all in the C-terminal SH2 domain, which together with the N-terminal SH2 domain enables PI3K recruitment to activated RTKs (Rordorf-Nikolic et al, 1995). Here, PIK3R1 is linked to SHORT syndrome.