Reference details

Wilson et al.2009Genet Test Mol Biomarkers515-51913(4)Prenatal identification of a novel R937P L1CAM missense mutation 19594370

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 5Exon 21c.2810G>Cp.Arg937ProMissenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.2810G>C p.Arg937ProExon 21 Hydrocephalus Contractures of the feet, hyperactive reflexes with ankle and knee clonus. Died at 4 months