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GENATLAS PHENOTYPE
last update : 13-12-2013
Symbol ASPED
Location 20q11.22
Name angel-shaped phalango-epiphyseal dysplasia (ASPED)
Corresponding gene GDF5
Main clinical features
  • typical angel-shaped phalanx, brachydactyly, abnormal dentition, hip dysplasia, and delayed bone age
  • epiphyseal dysplasia
  • Genetic determination
    Function/system disorder
    Type malformation
    Gene product
    Name cartilage derived morphogenetic protein 1, growth differentiation factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   abnormal protein/loss of function  
    Remark(s)