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NARP syndrome

ORPHA:644 · Disease · Disorder

HPO 表現型（共 28 項）

Frequent (79-30%)(27)

  • Abnormal basal ganglia MRI signal intensityHP:0012751
  • Abnormal visual field testHP:0030588
  • AtaxiaHP:0001251
  • Babinski signHP:0003487
  • BlindnessHP:0000618
  • Cerebral cortical atrophyHP:0002120
  • Constriction of peripheral visual fieldHP:0001133
  • Corticospinal tract atrophyHP:0007117
  • DementiaHP:0000726
  • Global developmental delayHP:0001263
  • HeadacheHP:0002315
  • Hearing impairmentHP:0000365
  • IrritabilityHP:0000737
  • Muscle spasmHP:0003394
  • Myoclonic spasmsHP:0003739
  • NystagmusHP:0000639
  • Optic disc pallorHP:0000543
  • Progressive gait ataxiaHP:0007240
  • Proximal muscle weaknessHP:0003701
  • Retinal arteriolar tortuosityHP:0001136
  • Retinal pigment epithelial mottlingHP:0007814
  • Rod-cone dystrophyHP:0000510
  • SeizureHP:0001250
  • Sensory neuropathyHP:0000763
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • VentriculomegalyHP:0002119

Excluded (0%)(1)

  • Abnormal mitochondria in muscle tissueHP:0008316