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GENATLAS PHENOTYPE
last update : 24-08-2016
Symbol BMFND
Location 9q22.32
Name bone marrow failure and neurological dysfunction
Corresponding gene ERCC6L2
Other symbol(s) BMFS2
Main clinical features
  • developmental delay and microcephaly, bone-marrow-failure syndrome
  • trilineage bone marrow failure, mental retardation
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    neurology
    Type disease
    Remark(s)