Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2250C>Ap.Tyr750XExon 18NonsenseDisease-causingn.a.n.a.n.a.n.a. Fn 2  

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