Gene symbol
and
protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
L1CAM
L1 cell adhesion molecule
Xq28
* Hydrocephalus with Hirschspung disease and cleft palate -
HSCR
(15.43)
* CRASH syndrome -
L1CAM
(15.43)
* MASA syndrome -
L1CAM
(15.43)
* CRASH syndrome -
HSAS
(15.43)