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Alazami syndrome

ORPHA:319671 · Malformation syndrome · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(6)

  • Deeply set eyeHP:0000490
  • Postnatal growth retardationHP:0008897
  • Severe intellectual disabilityHP:0010864
  • Wide mouthHP:0000154
  • Wide noseHP:0000445
  • Widely spaced teethHP:0000687

Frequent (79-30%)(14)

  • Abnormal eating behaviorHP:0100738
  • AnxietyHP:0000739
  • Cutis marmorataHP:0000965
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • Mild microcephalyHP:0040196
  • Motor stereotypyHP:0000733
  • Narrow palpebral fissureHP:0045025
  • Short palpebral fissureHP:0012745
  • Short philtrumHP:0000322
  • Sparse eyebrowHP:0045075
  • Thick vermilion borderHP:0012471
  • Thickened skinHP:0001072
  • Triangular faceHP:0000325

Occasional (29-5%)(11)

  • Abnormality of the orbital regionHP:0000315
  • Atrial septal defectHP:0001631
  • Prominent foreheadHP:0011220
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Self-mutilationHP:0000742
  • Sleep apneaHP:0010535
  • Sleep disturbanceHP:0002360
  • Slender long boneHP:0003100
  • Stereotypical hand wringingHP:0012171
  • StrabismusHP:0000486