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Biotinidase deficiency

ORPHA:79241 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(3)

  • Decreased circulating biotinidase concentrationHP:0410145
  • Metabolic ketoacidosisHP:0005979
  • Organic aciduriaHP:0001992

Frequent (79-30%)(8)

  • Abnormality of the immune systemHP:0002715
  • Abnormality of the nervous systemHP:0000707
  • Brain imaging abnormalityHP:0410263
  • HyperammonemiaHP:0001987
  • HypotoniaHP:0001252
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Skin rashHP:0000988

Occasional (29-5%)(27)

  • Abnormality of the eyeHP:0000478
  • AlopeciaHP:0001596
  • ApneaHP:0002104
  • AtaxiaHP:0001251
  • Bilateral tonic-clonic seizureHP:0002069
  • ConjunctivitisHP:0000509
  • Eczematoid dermatitisHP:0000964
  • Focal motor seizureHP:0011153
  • Generalized myoclonic seizureHP:0002123
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • HyperventilationHP:0002883
  • Infantile spasmsHP:0012469
  • Intellectual disabilityHP:0001249
  • Laryngeal stridorHP:0006511
  • LethargyHP:0001254
  • Limb muscle weaknessHP:0003690
  • MyelopathyHP:0002196
  • Nonprogressive visual lossHP:0200068
  • Optic atrophyHP:0000648
  • Optic neuropathyHP:0001138
  • Recurrent Candida infectionHP:0005401
  • Recurrent fungal infectionsHP:0002841
  • Recurrent viral infectionsHP:0004429
  • Respiratory distressHP:0002098
  • ScotomaHP:0000575
  • Spastic paraparesisHP:0002313