Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.52dupCp.Leu18ProfsX10Exon 1Duplication; frameshiftDisease-causingn.a.n.a.n.a.n.a. Sign.pept. De novo by mother or grandpaternal germline mosaicism


Family# Affected relativesClinical featuresRemarksReference
1 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation Died at the age of 12 yrs. Family HC8 Gu et al. (1996)


1996Gu et al.Five novel mutations in the L1CAM gene in families with X linked hydrocephalus J. Med. Genet. 33103-106 8929944