Reference details

Du et al.1998cAm. J. Med. Genet.200-20275Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus 9450886

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 10c.1267+1G>Ap.?Splice siteDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.1267+1G>A p.?Intron 10 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation