Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.670delCp.Ile225LeufsX11Exon 6Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Ig 2  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia >15 years Bertolin et al (2010)

References

YearAuthorTitleJournalVolumePagesWeblink
2010Bertolin et alNovel mutations in the L1CAM gene support the complexity of L1 syndrome J. Neurol Sc 294124-126 20447653