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Deaf blind hypopigmentation syndrome, Yemenite type

ORPHA:3214 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(10)

  • Delayed eruption of teethHP:0000684
  • FrecklingHP:0001480
  • Hyperpigmentation of the skinHP:0000953
  • Hypopigmentation of hairHP:0005599
  • Hypopigmented skin patchesHP:0001053
  • MacrodontiaHP:0001572
  • Multiple cafe-au-lait spotsHP:0007565
  • NystagmusHP:0000639
  • Sensorineural hearing impairmentHP:0000407
  • StrabismusHP:0000486

Frequent (79-30%)(7)

  • Anterior synechiae of the anterior chamberHP:0011483
  • Gait disturbanceHP:0001288
  • High foreheadHP:0000348
  • Iris colobomaHP:0000612
  • Iris hypopigmentationHP:0007730
  • MicrocorneaHP:0000482
  • Short philtrumHP:0000322

Occasional (29-5%)(5)

  • Abnormal size of the palpebral fissuresHP:0200007
  • High hypermetropiaHP:0008499
  • High, narrow palateHP:0002705
  • HypertoniaHP:0001276
  • TaurodontiaHP:0000679