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.

Patients

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)

References

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