← 返回搜尋

CADDS

ORPHA:369942 · Disease · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(2)

  • CholestasisHP:0001396
  • Global developmental delayHP:0001263

Frequent (79-30%)(6)

  • Abnormal cerebral white matter morphologyHP:0002500
  • CholangitisHP:0030151
  • Increased circulating very long-chain fatty acid concentrationHP:0033643
  • Intrauterine growth retardationHP:0001511
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(9)

  • Adrenal hypoplasiaHP:0000835
  • CataractHP:0000518
  • Cerebellar atrophyHP:0001272
  • DystoniaHP:0001332
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • MicrognathiaHP:0000347
  • Short noseHP:0003196
  • StrabismusHP:0000486
  • VentriculomegalyHP:0002119