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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-03-2009
Symbol MRCCK
Location 4p12
Name mental retardation, cataract, coloboma and kyphosis
Corresponding gene SRD5A3
Main clinical features
  • severe mental retardation, cataracts with onset in late adolescence, kyphosis, contractures of large joints, bulbous nose with broad nasal bridge, and thick lips with normal cerebral CT-scan
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    mental retardation
    Type MCA/MR