Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1939+5G>Ap.?Intron 15RNA splicing defectDisease-causingn.a.n.a.Probably damagingn.a. n.a. Mutation segregates with the disease


Family# Affected relativesClinical featuresRemarksReference
1 5 (Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia Two brothers with HSCR. 1/5 stillborn, 1/5 died at young age 1/5 XLH only Okamoto et al. (2004)


2004Okamoto et al.Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM J Hum Genet 49334-337 15148591