Reference details

Fernandez et al.2012Am J Med Genet A 816-820158AAssociation of X-linked Hydrocephalus and Hirschsprung disease: Report af a new patient with a mutation in the L1CAM gene 22344793

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 1Exon 16c.2092G>Ap.Gly698ArgMissenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 4 c.2092G>A p.Gly698ArgExon 16 (Dys)agenesis corpus callosum, Hirschsprung's disease, Hydrocephalus, Mental retardation, Spastic paraplegia