Reference details

Okamoto et al.1997aJ. Med. Genet.670-67134Hydrocephalus and Hirschprung's disease in a patient with a mutation of L1CAM 15148591

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 2Exon 18c.2421_2422delTGp.Gly808ArgfsX9Deletion; frameshiftDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.2421_2422delTG p.Gly808ArgfsX9Exon 18 (Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Mental retardation, Spastic paraplegia > 3 yr