Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Izumoto et al.1996Child's Nerv Syst742-74712A new mutation of the L1CAM gene in an X-linked hydrocephalus family 9118141

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 1Exon 16c.1963A>Gp.Lys655GluMissenseDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 unknown c.1963A>G p.Lys655GluExon 16 Hydrocephalus, ?