Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c2470_2474delp.Asn825LysfsX63Exon 19Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Fn 3  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus > 3 months 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