congenital amegakaryocytic thrombocytopenia 1

A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative le

A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34.

Signs and symptoms

• Cerebellar vermis hypoplasia
• Amegakaryocytic thrombocytopenia
• Thrombocytopenia
• Pancytopenia
• Megakaryocytopenia