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Aminoacylase 1 deficiency

ORPHA:137754 · Disease · Disorder

HPO 表現型（共 13 項）

Frequent (79-30%)(3)

  • EncephalopathyHP:0001298
  • Generalized muscle weaknessHP:0003324
  • HypotoniaHP:0001252

Occasional (29-5%)(7)

  • Aplasia/Hypoplasia of the cerebellar vermisHP:0006817
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • ApneaHP:0002104
  • Global developmental delayHP:0001263
  • SeizureHP:0001250
  • SyringomyeliaHP:0003396
  • VomitingHP:0002013

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

  • HypertelorismHP:0000316
  • Sensorineural hearing impairmentHP:0000407
  • Wide noseHP:0000445