Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3543-?_(*731+25)p.Gly1123ValfsX76Exon 28DuplicationDisease-causingSurface siteToleratedn.a.n.a. Cytopl. Duplication 1.3 kb.


Family# Affected relativesClinical featuresRemarksReference
1 >2 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia In this family: moderate to severe MR; severe prenatal hydrocephalus to minimal dilation of the lateral ventricles. Van Camp et al. (1993), Willems et al. (1987)


1993Van Camp et al.A duplication in the L1CAM gene associated with X-linked hydrocephalus Nat. Genet. 4421-425 8401593