Autosomal dominant macrothrombocytopenia

rare

This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.

Subtypes

Disease	ID	Genes
Macrothrombocytopenia, isolated, 1, autosomal dominant	MONDO:0800047	TUBB1
Macrothrombocytopenia, isolated, 2, autosomal dominant	MONDO:0030827	TUBA8
Platelet-type bleeding disorder 15	MONDO:0014078	ACTN1

Rare disease

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