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Pancytopenia-developmental delay syndrome

Disease definition

Pancytopenia-developmental delay syndrome is a rare, genetic, hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.


Classification level: Disorder
  • Synonym(s):
    • Trilineage bone marrow failure-developmental delay syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent
  • ICD-10: D61.0
  • OMIM: 615715
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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