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

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/254900