Term Name: Stormorken syndrome
Synonyms: thrombocytopathy, asplenia and miosis
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.
Ontology: Human Disease [DOID:0060354]   ( DOID:0060354 )

Relationships
is a type of: autosomal dominant disease blood platelet disease