← 返回搜尋

Albinism-deafness syndrome

ORPHA:998 · Malformation syndrome · Disorder

HPO 表現型（共 7 項）

Very frequent (99-80%)(4)

  • Abnormal speech patternHP:0002167
  • Hypopigmented skin patchesHP:0001053
  • Irregular hyperpigmentationHP:0007400
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(2)

  • Partial albinismHP:0007443
  • Piebald skin depigmentationHP:0007544

Occasional (29-5%)(1)

  • Heterochromia iridisHP:0001100