Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.(?_-145)_76+?delp.0Exon 1DeletionDisease-causingn.a.n.a.n.a.n.a. n.a. 32.7 kb deletion from AVPR2 exon 2 to L1CAM intron 1. De novo by mother


Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia HSAS with Nephrogenic Diabetes Insipidus. Died at age of 89 days. Tegay et al. (2007)


2007Tegay et al.Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus Am J med Genet A 143(6)594-598 17318848