Tags: Disease.
Lenz–Majewski syndrome is a skin condition characterized by hyperostosis craniodiaphyseal dysplasia dwarfism cutis laxa proximal symphalangism syndactyly brachydactyly mental retardation enamel hypoplasia and hypertelorism.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.