Missense variants in IFT140 have been reported to lead to “short-rib thoracic dysplasia 9 with or without polydactyly” (SRTD9, MIM #266920), also known as Mainzer-Saldino syndrome or retinitis pigmentosa 80 (RP80, MIM #617781) (30). The gene discussed is IFT140; the disease is short-rib thoracic dysplasia 9 with or without polydactyly.