Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.474delCp.Cys158XExon 5DeletionDisease-causingn.a.n.a.n.a.n.a. Ig 2  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Hydrocephalus, Spastic paraplegia > 3 yrs Kanemura et al (2006)

References

YearAuthorTitleJournalVolumePagesWeblink
2006Kanemura et alMolecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus J Neurosurg: Pediatrics 105403-412 17328266