Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.588_595del8p.Asn197SerfsX37Exon 6Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Ig 2 de novo by mother


Family# Affected relativesClinical featuresRemarksReference
1 5 Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation Died at the age of 2 yrs 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