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MERRF

ORPHA:551 · Disease · Disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(7)

Abnormality of movementHP:0100022
AtaxiaHP:0001251
EMG abnormalityHP:0003457
Generalized myoclonic seizureHP:0002123
MyopathyHP:0003198
Ragged-red muscle fibersHP:0003200
Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(4)

Cognitive impairmentHP:0100543
Multiple lipomasHP:0001012
Optic atrophyHP:0000648
Short statureHP:0004322