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Aromatic L-amino acid decarboxylase deficiency

ORPHA:35708 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(3)

  • Decreased CSF 5-hydroxyindolacetic acid concentrationHP:0025455
  • Decreased CSF homovanillic acid concentrationHP:0003785
  • Global developmental delayHP:0001263

Frequent (79-30%)(14)

  • Atypical behaviorHP:0000708
  • DystoniaHP:0001332
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • HyperhidrosisHP:0000975
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • IrritabilityHP:0000737
  • Motor delayHP:0001270
  • Oculogyric crisisHP:0010553
  • Poor head controlHP:0002421
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360

Occasional (29-5%)(18)

  • Autistic behaviorHP:0000729
  • Babinski signHP:0003487
  • ConstipationHP:0002019
  • Diminished deep tendon reflexHP:0001315
  • DroolingHP:0002307
  • DysarthriaHP:0001260
  • DyskinesiaHP:0100660
  • DysphagiaHP:0002015
  • EEG abnormalityHP:0002353
  • HypoglycemiaHP:0001943
  • HypokinesiaHP:0002375
  • HypotensionHP:0002615
  • Increased circulating prolactin concentrationHP:0000870
  • Limb hypertoniaHP:0002509
  • MiosisHP:0000616
  • Nasal congestionHP:0001742
  • PtosisHP:0000508
  • Short statureHP:0004322

Very rare (<4-1%)(3)

  • DiarrheaHP:0002014
  • Joint contractureHP:0034392
  • TremorHP:0001337