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MEGDEL syndrome

ORPHA:352328 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(7)

  • 3-Methylglutaconic aciduriaHP:0003535
  • DystoniaHP:0001332
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Lactic acidosisHP:0003128
  • Progressive spasticityHP:0002191
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(9)

  • 3-Methylglutaric aciduriaHP:0003344
  • Degeneration of the striatumHP:0040140
  • Developmental regressionHP:0002376
  • EncephalopathyHP:0001298
  • Failure to thrive in infancyHP:0001531
  • Hepatic failureHP:0001399
  • Neonatal hyperbilirubinemiaHP:0003265
  • Neonatal hypoglycemiaHP:0001998
  • SeizureHP:0001250

Occasional (29-5%)(10)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • Absent speechHP:0001344
  • Cerebellar atrophyHP:0001272
  • Cerebral cortical atrophyHP:0002120
  • DroolingHP:0002307
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • HyperammonemiaHP:0001987
  • HypocholesterolemiaHP:0003146
  • Optic atrophyHP:0000648
  • ScoliosisHP:0002650