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3-methylglutaconic aciduria type 9

ORPHA:505216 · Disease · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(18)

  • 3-Methylglutaconic aciduriaHP:0003535
  • Abnormal speech patternHP:0002167
  • Aggressive behaviorHP:0000718
  • Cerebral atrophyHP:0002059
  • ClonusHP:0002169
  • Decreased activity of mitochondrial ATP synthase complexHP:0011925
  • Delayed ability to walkHP:0031936
  • Delayed gross motor developmentHP:0002194
  • Diffuse white matter abnormalitiesHP:0007204
  • EEG abnormalityHP:0002353
  • EncephalopathyHP:0001298
  • Failure to thriveHP:0001508
  • HypotoniaHP:0001252
  • Increased circulating lactate concentrationHP:0002151
  • Muscle weaknessHP:0001324
  • Severe intellectual disabilityHP:0010864
  • Slender buildHP:0001533
  • Status epilepticusHP:0002133

Occasional (29-5%)(7)

  • Absent speechHP:0001344
  • HyperreflexiaHP:0001347
  • HypsarrhythmiaHP:0002521
  • Optic atrophyHP:0000648
  • SeizureHP:0001250
  • SpasticityHP:0001257
  • Urinary incontinenceHP:0000020