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GTR Home > Conditions/Phenotypes > Stormorken syndrome

Stormorken syndrome

Synonyms
THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by Misceo et al., 2014). [from OMIM]

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: D11S4896E, GOK, IMD10, STRMK, TAM, TAM1, STIM1
    Summary: stromal interaction molecule 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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