← 返回搜尋

Cystic fibrosis-gastritis-megaloblastic anemia syndrome

ORPHA:2575 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(13)

  • Abnormal erythrocyte morphologyHP:0001877
  • Deeply set eyeHP:0000490
  • DiarrheaHP:0002014
  • Folate-unresponsive megaloblastic anemiaHP:0004826
  • Frontal bossingHP:0002007
  • GastritisHP:0005263
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • MacrotiaHP:0000400
  • Megaloblastic anemiaHP:0001889
  • Recurrent respiratory infectionsHP:0002205
  • TelecanthusHP:0000506
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(5)

  • Glanular hypospadiasHP:0000807
  • HypospadiasHP:0000047
  • MicrognathiaHP:0000347
  • Nephrotic syndromeHP:0000100
  • Shawl scrotumHP:0000049