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GENATLAS PHENOTYPE
last update : 17-05-2023
Symbol BMFS6
Location 1q32.1
Name bone marrow failure syndrome 6
Corresponding gene MDM4
Main clinical features
  • bone marrow failure manifest as mild intermittent neutropenia in infancy, macrocytosis associated with mild anemia, and hypocellular bone marrow
  • in adulthood various types of cancer, such as acute myeloid leukemia, melanoma, squamous cell cancer, and lung and breast cancer, but no dysmorphic features
  • Genetic determination autosomal dominant
    Function/system disorder hematology
    neoplasia
    Type disease
    Remark(s)