References Addresses OMIM links Summary L1CAM is a neuronal cell adhesion molecule with important functions in the development of the nervous system. The gene encoding L1CAM is located near the telomere of the long arm of the X chromosome in Xq28.
Clinical variability is large between and sometimes within families.
Wong et al. Kenwrick et al. Fransen et al. This table contains 137 different mutations, found in 146 unrelated families. 1993 E 1 sign.pept.