Reference details

Senat et al.2001Prenat Diagn1129-113221(13)Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases 11787037

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 6Exon 14c.1765T>Cp.Tyr589HisMissenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 3 c.1765T>C p.Tyr589HisExon 14 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus Index case: stillborn. 3/3 mutation found. Terminated pregnancies