Reference details

Jouet et al.1996J. Med. Genet.218-25033Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus 8728703

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 5Exon 23c.3089delAp.Asn1030ThrfsX81Deletion; frameshiftDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 4 c.3089delA p.Asn1030ThrfsX81Exon 23 Hydrocephalus, ? Death <1 yr: 3/4