Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1316_1330del15p.Val439_443ThrdelExon 11DeletionDisease-causingn.a.n.a.n.a.n.a. Ig 5  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 2 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Death <1 yr. Fam H15 MacFarlane et al. (1997)

References

YearAuthorTitleJournalVolumePagesWeblink
1997MacFarlane et al.Nine novel L1CAM mutations in families with X-linked Hydrocephalus Hum. Mutat. 9512-518 9195224