Luscan-Lumish Syndrome (LLS)

Luscan-Lumish Syndrome, also known as lls, is related to overgrowth syndrome and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Luscan-Lumish Syndrome is SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase). Affiliated tissues include bone and brain, and related phenotypes are macrocephaly and intellectual disability