L1CAM - Gene browser

L1CAM

L1 cell adhesion molecule

HCNC Approved Symbol: L1CAM (HGNC:6470)
Genomic Coordinates: 23:153,861,514 - 153,886,173 (Xq28)
Synonyms: CD171, NCAM-L1, CAML1, HSAS1, SPG1, HSAS, MASA, MIC5, S10
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the L1CAM gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

06
Patient count

Epilepsy: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Intellectual disability: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Strabismus: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Agenesis of corpus callosum: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Cerebral atrophy: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)