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Autosomal dominant aplasia and myelodysplasia

ORPHA:314399· ICD-10 D61.0

Definition

A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Childhood