Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Moya et al.2002Fetal Diagn. Ther.115-11917Prenatal diagnosis of L1 cell adhesion molecule mutations 11844917

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
NoneExon 2c.88delCp.His30MetfsX2Deletion; frameshiftDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 2 c.88delC p.His30MetfsX2Exon 2 (Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia > 5 years old