Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.(?_-145_(*731_?)delp.0AllDeletion entire geneDisease-causingn.a.n.a.n.a.n.a. All De novo or germ line mosaicism


Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation > 5 year Knops et al. (2008)


2008Knops et al.Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2 Am J med Genet A 146A1853-1858 18553546