Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Takahashi et al.1997Brain & Development559-56219L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling 9440802

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 4Exon 22c.3002delCp.Pro1001LeufsX110Deletion; frameshiftDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.3002delC p.Pro1001LeufsX110Exon 22 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia > 9 yr