Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Rehnberg et al.2010Am J med Genet A439-441155Novel L1CAM Splice Site Mutation in a young Male with L1 syndrome 21182018

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 25c.3458-1G>Cp.?Splice siteDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 3 c.3458-1G>C p.?Intron 25 Adducted thumbs, Hydrocephalus, Hypotonia