Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3322+2T>Cp.?Intron 24Splice siteDisease-causingn.a.n.a.n.a.n.a. n.a.  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 2 Adducted thumbs, Hydrocephalus, ? Death < 1 yr: 1/2 MacFarlane et al. (1997)

References

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