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Multiple mitochondrial dysfunctions syndrome type 3

ORPHA:363424 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(2)

  • Developmental regressionHP:0002376
  • HypotoniaHP:0001252

Frequent (79-30%)(20)

  • Cavitating leukodystrophyHP:0033369
  • Decreased activity of mitochondrial complex IHP:0011923
  • Decreased activity of mitochondrial complex IIHP:0008314
  • Feeding difficulties in infancyHP:0008872
  • Global developmental delayHP:0001263
  • HyperglycinemiaHP:0002154
  • Increased circulating lactate concentrationHP:0002151
  • Increased CSF glycine concentrationHP:0500230
  • Increased CSF lactateHP:0002490
  • Intellectual disabilityHP:0001249
  • Joint contractureHP:0034392
  • LeukodystrophyHP:0002415
  • Muscle weaknessHP:0001324
  • Periventricular white matter hyperintensitiesHP:0030891
  • PolyhydramniosHP:0001561
  • Respiratory failureHP:0002878
  • SeizureHP:0001250
  • SpasticityHP:0001257
  • Thin corpus callosumHP:0033725
  • Visual impairmentHP:0000505

Occasional (29-5%)(9)

  • Apneic episodes in infancyHP:0005949
  • Cerebral atrophyHP:0002059
  • Decreased activity of mitochondrial complex IVHP:0008347
  • Elevated brain lactate level by MRSHP:0012707
  • Lactic acidosisHP:0003128
  • MicrocephalyHP:0000252
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • PolymicrogyriaHP:0002126