Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3002delCp.Pro1001LeufsX110Exon 22Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Fn 4  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia > 9 yr Takahashi et al. (1997)

References

YearAuthorTitleJournalVolumePagesWeblink
1997Takahashi et al.L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling Brain & Development 19559-562 9440802