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Congenital amegakaryocytic thrombocytopenia

ORPHA:3319· ICD-10 D61.0

Definition

An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.

Prevalence
Unknown
Inheritance
Autosomal recessive
Age of onset
Neonatal