Reference details

Nunes et al2009Eur Radiol1-4Epub ahead of printCongenital hydrocephalus and L1 disease: a case report (2009: 7b) 19714335

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 7c.807-6G>Ap.Phe269LeufsX39RNA splicing defectDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.807-6G>A p.Phe269LeufsX39Intron 7 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Hypotonia, Spastic paraplegia