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myoclonus-renal failure syndrome (myoclonus-nephropathy syndrome)
Genetics:
- autosomal recessive
- associated with defects in SCARB2
Clinical manifestations:
- progressive myoclonic epilepsy associated with renal failure
- cognitive function is preserved
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 254900
References
OMIM :accession 254900