遺伝性痙性対麻痺 X 連鎖性水頭症 [DS:H02458] MASA 症候群 [DS:H02178] X 連鎖性脳梁部分欠損
概要
L1 syndrome comprises a wide variety of X-linked inherited neurodevelopmental disorders caused by mutations in the L1CAM gene, including X-linked hydrocephalus, MASA syndrome (mental retardation, aphasia, spastic paraplegia, adducted thumbs), X-linked complicated hereditary spastic paraplegia type 1, and X-linked partial agenesis of corpus callosum. L1CAM encodes for the L1 cell adhesion molecule (L1-CAM), a member of the immunoglobulin (Ig) superfamily of neural cell adhesion molecules that is expressed in the developing nervous system.
