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MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

ORPHA:485421 · Etiological subtype · Subtype of disorder

HPO 表現型（共 29 項）

Frequent (79-30%)(27)

  • Abnormal basal ganglia MRI signal intensityHP:0012751
  • Abnormal mitochondrial shapeHP:0012087
  • Abnormal nonverbal communicative behaviorHP:0000758
  • Abnormal thalamic MRI signal intensityHP:0012696
  • Abnormality of visual evoked potentialsHP:0000649
  • Auditory sensitivityHP:0025112
  • Axial hypotoniaHP:0008936
  • Cerebellar atrophyHP:0001272
  • Decreased nerve conduction velocityHP:0000762
  • Developmental regressionHP:0002376
  • DysphagiaHP:0002015
  • EEG abnormalityHP:0002353
  • External ophthalmoplegiaHP:0000544
  • Feeding difficultiesHP:0011968
  • Functional motor deficitHP:0004302
  • HyperreflexiaHP:0001347
  • HypsarrhythmiaHP:0002521
  • Motor delayHP:0001270
  • Muscle weaknessHP:0001324
  • Nasogastric tube feedingHP:0040288
  • Optic atrophyHP:0000648
  • Optic disc pallorHP:0000543
  • Profound global developmental delayHP:0012736
  • Secondary microcephalyHP:0005484
  • SeizureHP:0001250
  • SpasticityHP:0001257
  • Visual impairmentHP:0000505

Occasional (29-5%)(2)

  • Epileptic spasmHP:0011097
  • Growth delayHP:0001510