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Fechtner syndrome
Genetics:
- autosomal dominant
- associated with defects in MYH9
Clinical manifestations:
- sensorineural deafness
- cataracts
- nephritis
Laboratory:
- complete blood count: thrombocytopenia
- peripheral blood smear:
- giant platelets
- neutrophil & eosinophil cytoplasmic inclusions similar in appearance to Dohle bodies but ultrastructurally different
- urinalysis: hematuria
Interactions
disease interactions
General
genetic disease of the blood/bone marrow
genetic disease of the kidney
Database Correlations
OMIM 153640
References
OMIM :accession 153640