Stormorken syndrome (DOID:0060354)
Alliance: disease page
Synonyms: thrombocytopathy, asplenia and miosis
Alt IDs: OMIM:185070, MESH:C566108, ORDO:3204, UMLS_CUI:C1861451
Definition: A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.