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 ...