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GTR Home > Conditions/Phenotypes > Platelet-type bleeding disorder 20

Platelet-type bleeding disorder 20

Summary

A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others. [from ORDO]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT20, SLFN14
    Summary: schlafen family member 14

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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