Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Basel-Vanagaite et al.2006Clin Genet414-41969Expanding the phenotypic spectrum of L1CAM-associated disease 16650080

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 3Exon 7c.719C>Tp.Pro240LeuMissenseDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 2 c.719C>T p.Pro240LeuExon 7 (Dys)agenesis corpus callosum, Hirschsprung's disease ACC: 2/2, HSCR 1/2, Limb abnormalities 1/2