Reference details

Tegay et al.2007Am J med Genet A594-598143(6)Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus 17318848

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Exon 1c.(?_-145)_76+?delp.0DeletionDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.(?_-145)_76+?del p.0Exon 1 Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia HSAS with Nephrogenic Diabetes Insipidus. Died at age of 89 days.