Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.[523+9_523+10delinsGA;523+12delC]p.?Intron 5Intronic variationLikely disease-causingn.a.n.a.n.a.n.a. n.a.  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 6 Hydrocephalus, Mental retardation, Spastic paraplegia   Vos et al. (2010)

References

YearAuthorTitleJournalVolumePagesWeblink
2010Vos et al.Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis J.Med.Genet 47(3)169-175 19846429