Reference details

Jouet and Kenwrick1995cLancet161-162345Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus 7823673

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 1c.76+1G>Tp.?Splice siteDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.76+1G>T p.?Intron 1 Adducted thumbs, Hydrocephalus, Mental retardation