Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1829-1G>Cp.?Intron 14Splice siteDisease-causingn.a.n.a.n.a.n.a. n.a.  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Hydrocephalus, Spastic paraplegia   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