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Neutropenia-monocytopenia-deafness syndrome

Disease definition

Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.

ORPHA:2690

Classification level: Disorder
  • Synonym(s):
    • Neutropenia-monocytopenia-hearing loss syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal, Infancy
  • ICD-10: D82.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 3982
  • MedDRA: -
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