In 2013, whole-exome sequencing showed that a missense mutation resulting in overactive phosphatidylserine synthase 1 was the cause of LMS, making it the first known human disease to be caused by disrupted phosphatidylserine metabolism. The researchers suggested a link between the condition and bone metabolism.
Lenz–Majewski syndrome
Griscelli syndrome type 2
Romano–Ward syndrome
Laurence–Moon syndrome
Baggio–Yoshinari syndrome
Klüver–Bucy syndrome
Landau–Kleffner syndrome
Crigler–Najjar syndrome