Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1267C>Tp.Gln423XExon 10NonsenseDisease-causingn.a.n.a.n.a.n.a. Ig 4  


Family# Affected relativesClinical featuresRemarksReference
1 1 Hydrocephalus 0 yr Finckh et al. (2000)
2 3 Hydrocephalus Index case died one day after birth. Vos et al. (2010)


2000Finckh et al.Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease Am. J. Med. Genet. 9240-46 10797421
2010Vos et al.Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis J.Med.Genet 47(3)169-175 19846429