Reference details

Van Camp et al.1993Nat. Genet.421-4254A duplication in the L1CAM gene associated with X-linked hydrocephalus 8401593

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Cytopl.Exon 28c.3543-?_(*731+25)p.Gly1123ValfsX76DuplicationDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 >2 c.3543-?_(*731+25) p.Gly1123ValfsX76Exon 28 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia In this family: moderate to severe MR; severe prenatal hydrocephalus to minimal dilation of the lateral ventricles.