Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Sztriha et al.2002Pediatr. Neurol.293-29627X-linked hydrocephalus: a novel missense mutation in the L1CAM gene 12435569

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 4Exon 10c.1243G>Cp.Ala415ProMissenseDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 4 c.1243G>C p.Ala415ProExon 10 (Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia