Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2805_2843del39p.Leu936_Leu948delExon 21DeletionDisease-causingn.a.n.a.n.a.n.a. Fn 4  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 4 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Death < 1 yr: 2/4 MacFarlane et al. (1997)

References

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