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Oculocerebrofacial syndrome, Kaufman type

ORPHA:2707 · Malformation syndrome · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(16)

  • Abnormal optic nerve morphologyHP:0000587
  • ArachnodactylyHP:0001166
  • BrachycephalyHP:0000248
  • DyspneaHP:0002094
  • Flat occiputHP:0005469
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Long footHP:0001833
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Optic atrophyHP:0000648
  • Respiratory distressHP:0002098
  • Respiratory failureHP:0002878
  • RetrognathiaHP:0000278
  • Specific learning disabilityHP:0001328
  • Upslanted palpebral fissureHP:0000582

Frequent (79-30%)(25)

  • Abnormal lip morphologyHP:0000159
  • Abnormal upper lip morphologyHP:0000177
  • Absent eyebrowHP:0002223
  • BlepharophimosisHP:0000581
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • High, narrow palateHP:0002705
  • Long faceHP:0000276
  • MicrocorneaHP:0000482
  • MicrodontiaHP:0000691
  • Muscle flaccidityHP:0010547
  • MyopiaHP:0000545
  • Narrow faceHP:0000275
  • NystagmusHP:0000639
  • Preauricular skin tagHP:0000384
  • Short palpebral fissureHP:0012745
  • Short philtrumHP:0000322
  • Smooth philtrumHP:0000319
  • StrabismusHP:0000486
  • TelecanthusHP:0000506
  • Thin eyebrowHP:0045074
  • Thin vermilion borderHP:0000233
  • Wide mouthHP:0000154

Occasional (29-5%)(3)

  • Chorioretinal dystrophyHP:0001135
  • Chorioretinal scalloped atrophyHP:0001139
  • Clitoral hypertrophyHP:0008665