Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3530+3A>Tp.?Intron 26RNA splicing defectDisease-causingn.a.n.a.n.a.n.a. n.a. RNA analysis had not been done


Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Hydrocephalus 0 yr Finckh et al. (2000)


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