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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-09-2018
Symbol BLMLS
Location 17p11.2
Name Bloom syndrome-like
Other name(s)
  • microcephaly, growth restriction, and increased sister chromatid exchange
  • Corresponding gene TOP3A
    Other symbol(s) MGRISCE2
    Main clinical features
  • intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange
  • multiple cafe-au-lait patches were observed in some patients, but none had a malar rash
  • mild developmental delay, decreased subcutaneous fat, recurrent infections
  • dysmorphic facial features, including frontal bossing and progeroid features
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease