Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.198-2A>Tp.?Intron 3Splice siteDisease-causingn.a.n.a.n.a.n.a. n.a.  


Family# Affected relativesClinical featuresRemarksReference
1 >2 Adducted thumbs, Hydrocephalus Oldest mutation carrier: 16 yrs Finckh et al. (2000)
2 3 Hydrocephalus, ? Index case: > 16 yrs 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