← 返回搜尋

Vitamin B12-unresponsive methylmalonic acidemia type mut0

ORPHA:289916 · Clinical subtype · Subtype of disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(4)

  • ComaHP:0001259
  • Growth delayHP:0001510
  • LethargyHP:0001254
  • Nausea and vomitingHP:0002017

Frequent (79-30%)(6)

  • Global developmental delayHP:0001263
  • HepatomegalyHP:0002240
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Respiratory distressHP:0002098
  • ThrombocytopeniaHP:0001873

Occasional (29-5%)(12)

  • AnemiaHP:0001903
  • ChoreaHP:0002072
  • ChoreoathetosisHP:0001266
  • Decreased total neutrophil countHP:0001875
  • DystoniaHP:0001332
  • Hemiplegia/hemiparesisHP:0004374
  • HyperammonemiaHP:0001987
  • Optic atrophyHP:0000648
  • PancreatitisHP:0001733
  • Renal insufficiencyHP:0000083
  • Renal tubular dysfunctionHP:0000124
  • SepsisHP:0100806