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macrothrombocytopenia with sensorineural deafness
Genetics:
- autosomal dominant
- associated with defects in MYH9
Clinical manifestations:
- progressive sensorineural hearing loss
- nephritis is not a feature
Laboratory:
- complete blood count: thrombocytopenia
- peripheral blood smear: giant platelets
- urinalysis: normal; abnormality would suggest other pathology
General
genetic disease of the blood/bone marrow
genetic syndrome (multisystem disorder)
platelet disorder; thromboasthenia
Database Correlations
OMIM 600208
References
OMIM :accession 600208