Reference details

Simonati et al.2006Neurol Sci114-11727A novel missense mutation in the L1CAM gene in a boy with L1 disease 16816908

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 2Exon 18c.2308G>Ap.Asp770AsnMissenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.2308G>A p.Asp770AsnExon 18 (Dys)agenesis corpus callosum, Adducted thumbs, Mental retardation, Spastic paraplegia Microcephaly. Index > 20 yrs