Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1267+4A>Tp.Leu376_Gln423delIntron 10Splice siteDisease-causingn.a.n.a.n.a.n.a. Ig 4 Exon 10 skipping has been proven by cDNA sequencing


Family# Affected relativesClinical featuresRemarksReference
1 3 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Index case died before the age of 1 yr. Jouet et al. (1995a)


1995aJouet et al.New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome Am. J. Hum. Genet. 561304-1314 7762552