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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-12-2019
Symbol CWS
Location Xq13.3
Name mental retardation-hypotonic facies syndrome
Other name(s)
  • Carpenter Waziri syndrome
  • Chudley-Lowry syndrome
  • Holmes-Gang syndrome
  • Corresponding gene ATRX
    Main clinical features "coarse" facial appearance, brachydactyly with widening of the distal phalanges, short stature, and moderate mental retardation
    Genetic determination sex linked
    Related entries ATRX
    Function/system disorder mental retardation
    Type disease
    Gene product
    Name transcriptional regulator ATRX
    Remark(s) disorders allelic to ATRX syndrome