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GENATLAS PHENOTYPE
last update : 06-09-2010
Symbol HHS
Location Xq28
Name Hoyeraal-Hreidarsson syndrome
Corresponding gene DKC1
Main clinical features
  • growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia
  • cerebellar hypoplasia, microcephaly, intrauterine growth retardation,, premature aging, bone marrow failure, and immunodeficiency
    • Genetic determination sex linked
    Function/system disorder hematology
    neurology
    Type disease
    Gene product
    Name dyskerin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown  
    Remark(s)