Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Parisi et al2002Am J med Genet A51-56108Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 11857550

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 2Exon 18c.2254G>Ap.Val752MetMissenseDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.2254G>A p.Val752MetExon 18 (Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia > 2 yrs