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Epstein syndrome
Genetics:
- autosomal dominant
- associated with defects in MYH9
Clinical manifestations:
- sensorineural hearing loss
- nephritis
Laboratory:
- complete blood count: thrombocytopenia
- peripheral blood smear: giant platelets
- urinalysis: may show hematuria, proteinuria
Related
Ebstein's anomaly
General
genetic disease of the blood/bone marrow
genetic syndrome (multisystem disorder)
platelet disorder; thromboasthenia
Database Correlations
OMIM 153650
References
OMIM :accession 153650