This table has been prepared by Dr Gisèle Bonne * - PhD and by Pr. François Rivier ** - MD, PhD
This website is developed and maintained by Dalil Hamroun** - PhD
* Sorbonne Université-Inserm, Centre of Research in Myology , Paris, France.
** Chu de Montpellier, Montpellier. France.
GT_NMD 2024 (updated 17/01/2024)
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 (15.84)* CRASH syndrome - L1CAM (15.84)* MASA syndrome - L1CAM (15.84)* CRASH syndrome - HSAS (15.84) |