C136653Level 5
X-linked Thrombocytopenia, with or without Dyserythropoietic Anemia
**Semantic type:** Disease or Syndrome
**Definition:** An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.
**Synonyms:** - XLTDA
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