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Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

ORPHA:88639 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(5)

  • DystoniaHP:0001332
  • HypotoniaHP:0001252
  • Motor delayHP:0001270
  • Progressive neurologic deteriorationHP:0002344
  • VomitingHP:0002013

Frequent (79-30%)(18)

  • Abnormal vertebral morphologyHP:0003468
  • Abnormality of mitochondrial metabolismHP:0003287
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • EpicanthusHP:0000286
  • Facial shape deformationHP:0011334
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • HyperreflexiaHP:0001347
  • HypsarrhythmiaHP:0002521
  • Increased circulating lactate concentrationHP:0002151
  • Infantile spasmsHP:0012469
  • Metabolic acidosisHP:0001942
  • NystagmusHP:0000639
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486
  • Truncal ataxiaHP:0002078
  • VentriculomegalyHP:0002119

Occasional (29-5%)(6)

  • CryptorchidismHP:0000028
  • EncephalopathyHP:0001298
  • IrritabilityHP:0000737
  • LeukoencephalopathyHP:0002352
  • Respiratory insufficiencyHP:0002093
  • Small basal gangliaHP:0012697

Very rare (<4-1%)(2)

  • Head titubationHP:0002599
  • Tetralogy of FallotHP:0001636