Human genes for Stormorken syndrome
Stormorken syndrome [DOID:0060354]
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.
Synonyms: Stormorken syndrome, DOID:0060354, Stormorken disease, Stormorken disorder, Stormorken syndromes ...