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Microcephaly-chorioretinopathy-lymphedema syndrome

ORPHA:2526 · Malformation syndrome · Disorder

HPO 表現型（共 67 項）

Very frequent (99-80%)(4)

  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • LymphedemaHP:0001004
  • MicrocephalyHP:0000252

Frequent (79-30%)(11)

  • Abnormal hair morphologyHP:0001595
  • Abnormal retinal pigmentationHP:0007703
  • Abnormal toenail morphologyHP:0008388
  • EdemaHP:0000969
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • LeukonychiaHP:0001820
  • MelanonychiaHP:0100644
  • MyopiaHP:0000545
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(52)

  • Abnormal eyelash morphologyHP:0000499
  • Abnormal eyelid morphologyHP:0000492
  • Abnormal nasolacrimal system morphologyHP:0000614
  • Abnormal optic nerve morphologyHP:0000587
  • AmblyopiaHP:0000646
  • AnophthalmiaHP:0000528
  • Anteverted naresHP:0000463
  • Atrial septal defectHP:0001631
  • BlindnessHP:0000618
  • CataractHP:0000518
  • CellulitisHP:0100658
  • Chorioretinal dysplasiaHP:0007731
  • ChylothoraxHP:0010310
  • Dry skinHP:0000958
  • EpicanthusHP:0000286
  • ErysipelasHP:0001055
  • Full cheeksHP:0000293
  • GangreneHP:0100758
  • GlaucomaHP:0000501
  • HypertoniaHP:0001276
  • LeukemiaHP:0001909
  • Long philtrumHP:0000343
  • LymphomaHP:0002665
  • MicrophthalmiaHP:0000568
  • Muscle stiffnessHP:0003552
  • Optic atrophyHP:0000648
  • PanniculitisHP:0012490
  • Pleural effusionHP:0002202
  • Pointed chinHP:0000307
  • Protruding earHP:0000411
  • PtosisHP:0000508
  • Retinal detachmentHP:0000541
  • Retinal dysplasiaHP:0007973
  • Retinal dystrophyHP:0000556
  • RetinopathyHP:0000488
  • RigidityHP:0002063
  • Scaling skinHP:0040189
  • SeizureHP:0001250
  • Severe short statureHP:0003510
  • Skin ulcerHP:0200042
  • Sloping foreheadHP:0000340
  • SpasticityHP:0001257
  • Status epilepticusHP:0002133
  • Subcutaneous noduleHP:0001482
  • Thick vermilion borderHP:0012471
  • Thickened skinHP:0001072
  • Underdeveloped supraorbital ridgesHP:0009891
  • Upslanted palpebral fissureHP:0000582
  • Venous thrombosisHP:0004936
  • Visual lossHP:0000572
  • Wide nasal bridgeHP:0000431
  • Wide noseHP:0000445