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GENATLAS PHENOTYPE
last update : 03-12-2015
Symbol WS3
Location 2q36.1
Name Waardenburg syndrome type 3
Other name(s)
  • Klein-Waardenburg syndrome
  • Waardenburg syndrome with upper limb anomalies
    • Corresponding gene PAX3
    Main clinical features
  • combination of typical WS1 features and hypoplasia or contractures of the limb muscles or joints, carpal bone fusion, or syndactyly
    • Genetic determination autosomal dominant
    Function/system disorder ear
    limbs
    dermatology
    Type disease
    Gene product
    Name paired box (DNA binding) containing protein 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     N47H
    missense     homozygous Y90H mutation in offspring of consanguineous patients heterozygous for a PAX3 mutation and presenting with WS1
    Remark(s)