← 返回搜尋

Cystathioninuria

ORPHA:212 · Disease · Disorder

HPO 表現型（共 8 項）

Obligate (100%)(1)

  • CystathioninuriaHP:0003153

Frequent (79-30%)(3)

  • CystathioninemiaHP:0003286
  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250

Occasional (29-5%)(4)

  • Abnormal pinna morphologyHP:0000377
  • Kidney stoneHP:0000787
  • Talipes equinovarusHP:0001762
  • TremorHP:0001337