← 返回搜尋

Phenylketonuria

ORPHA:716 · Disease · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(1)

  • PhenylalaninuriaHP:0032351

Frequent (79-30%)(14)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Atypical behaviorHP:0000708
  • Eczematoid dermatitisHP:0000964
  • EEG abnormalityHP:0002353
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HyperphenylalaninemiaHP:0004923
  • Hypopigmentation of the skinHP:0001010
  • MicrocephalyHP:0000252
  • Musty odorHP:0410021
  • OsteopeniaHP:0000938
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(10)

  • Abnormal cardiovascular system morphologyHP:0030680
  • AnxietyHP:0000739
  • AtaxiaHP:0001251
  • Cerebral visual impairmentHP:0100704
  • DementiaHP:0000726
  • DepressionHP:0000716
  • EncephalopathyHP:0001298
  • Lower limb spasticityHP:0002061
  • Short attention spanHP:0000736
  • TremorHP:0001337