Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.924C>Tp.Gly308_Glu330delExon 8RNA splicing defectDisease-causingn.a.n.a.n.a.n.a. Ig 3 Segregation of the mutation with the disease.


Family# Affected relativesClinical featuresRemarksReference
1 6 (Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation Index case >7 yrs, 4 greatuncles died at birth or in early infancy Du et al. (1998a)
2 2 Hydrocephalus, ? Both died neonatal Vos et al. (2010)


1998aDu et al.A silent mutation, C924T (G308G), in the L1CAM gene results in X-linked hydrocephalus (HSAS) J. Med. Genet. 35456-462 9643285
2010Vos et al. To be published