← 返回搜尋

Recessive mitochondrial ataxia syndrome

ORPHA:94125 · Disease · Disorder

HPO 表現型（共 22 項）

Frequent (79-30%)(21)

  • Abnormality of central motor conductionHP:0012079
  • Abnormality of movementHP:0100022
  • AreflexiaHP:0001284
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Cognitive impairmentHP:0100543
  • DysmetriaHP:0001310
  • DysphagiaHP:0002015
  • Gait disturbanceHP:0001288
  • Generalized hypotoniaHP:0001290
  • Hashimoto thyroiditisHP:0000872
  • HeadacheHP:0002315
  • Impaired vibratory sensationHP:0002495
  • Increased circulating pyruvate concentrationHP:0003542
  • Limb dysmetriaHP:0002406
  • OphthalmoplegiaHP:0000602
  • Peripheral neuropathyHP:0009830
  • Positive Romberg signHP:0002403
  • SeizureHP:0001250
  • Sensory axonal neuropathyHP:0003390
  • ST segment elevationHP:0012251

Occasional (29-5%)(1)

  • DysarthriaHP:0001260