Reference details

Marx et al2012Neurogenetics49-5913Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus 22222883

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 1Exon 15c.1905G>Cp.Trp635CysMissenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 3 c.1905G>C p.Trp635CysExon 15 Adducted thumbs, Hydrocephalus Passed away, in utero, 1 and 2 months of age