Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2344_2364dupp.Val782_Val788dupExon 18DuplicationDisease-causingn.a.n.a.n.a.n.a. Fn 2 Segregation of the mutation with the disease


Family# Affected relativesClinical featuresRemarksReference
1 3 Adducted thumbs, Mental retardation, Spastic paraplegia Index case: > 30 yrs. Brother died at the age of 5 yrs (severe hydrocephalus) Vos et al. (2010)


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