Reference details

Liebau et al.2007Pediatr Nephrol1058-106122L1CAM mutation in a boy with hydrocephalus and duplex kidneys 17294222

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 18c.2431+2_2431+3delTGp.?Splice siteDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.2431+2_2431+3delTG p.?Intron 18 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Bilateral duplex kidneys and ureters. > 9 yrs