← 返回搜尋

Waardenburg syndrome type 2

ORPHA:895 · Clinical subtype · Subtype of disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(3)

  • Hearing impairmentHP:0000365
  • Hypopigmentation of hairHP:0005599
  • Premature graying of hairHP:0002216

Frequent (79-30%)(4)

  • Heterochromia iridisHP:0001100
  • Hypopigmented skin patchesHP:0001053
  • Sensorineural hearing impairmentHP:0000407
  • White forelockHP:0002211

Occasional (29-5%)(5)

  • Abnormality of the kidneyHP:0000077
  • Abnormality of the pulmonary arteryHP:0004414
  • Aganglionic megacolonHP:0002251
  • PtosisHP:0000508
  • TelecanthusHP:0000506