Reference details

Knops et al.2008Am J med Genet A1853-1858146ANephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2 18553546

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
AllAllc.(?_-145_(*731_?)delp.0Deletion entire geneDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.(?_-145_(*731_?)del p.0All Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation > 5 year