Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2374delinsGGp.Asn792GlyfsX26Exon 18Del+ins; frameshiftDisease-causingn.a.n.a.n.a.n.a. Fn 2  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 4 (Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation, Spastic paraplegia Death < 1 yr: 4/4 Brewer et al. (1996), MacFarlane et al. (1997)

References

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