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Norrie disease

ORPHA:649 · Malformation syndrome · Disorder

HPO 表現型（共 64 項）

Very frequent (99-80%)(15)

  • Abnormal chorioretinal morphologyHP:0000532
  • Abnormal retinal vascular morphologyHP:0008046
  • Anterior chamber synechiaeHP:0007833
  • BlindnessHP:0000618
  • CataractHP:0000518
  • Corneal opacityHP:0007957
  • Deeply set eyeHP:0000490
  • Hypoplasia of the irisHP:0007676
  • HypotelorismHP:0000601
  • MacrotiaHP:0000400
  • MicrophthalmiaHP:0000568
  • Narrow nasal bridgeHP:0000446
  • Neoplasm of the eyeHP:0100012
  • SclerocorneaHP:0000647
  • Vascular neoplasmHP:0100742

Frequent (79-30%)(13)

  • Abnormal cochlea morphologyHP:0000375
  • Abnormal vitreous humor morphologyHP:0004327
  • AnxietyHP:0000739
  • Aplasia/Hypoplasia of the lensHP:0008063
  • Erectile dysfunctionHP:0100639
  • Intellectual disability, progressiveHP:0006887
  • IrritabilityHP:0000737
  • Motor stereotypyHP:0000733
  • NystagmusHP:0000639
  • PsychosisHP:0000709
  • Remnants of the hyaloid vascular systemHP:0007968
  • Retinal detachmentHP:0000541
  • Venous insufficiencyHP:0005293

Occasional (29-5%)(36)

  • Abnormal diencephalon morphologyHP:0010662
  • Abnormal helix morphologyHP:0011039
  • Abnormal pupil morphologyHP:0000615
  • Abnormality of immune system physiologyHP:0010978
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • AutismHP:0000717
  • CachexiaHP:0004326
  • Cerebral cortical atrophyHP:0002120
  • ClonusHP:0002169
  • CryptorchidismHP:0000028
  • Delayed pubertyHP:0000823
  • Developmental regressionHP:0002376
  • Diabetes mellitusHP:0000819
  • Ectopia lentisHP:0001083
  • EEG abnormalityHP:0002353
  • Failure to thriveHP:0001508
  • GlaucomaHP:0000501
  • HallucinationsHP:0000738
  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276
  • HypotoniaHP:0001252
  • Malar flatteningHP:0000272
  • MicrocephalyHP:0000252
  • MigraineHP:0002076
  • Muscle weaknessHP:0001324
  • Optic atrophyHP:0000648
  • Protruding earHP:0000411
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716
  • Sensorineural hearing impairmentHP:0000407
  • Sleep disturbanceHP:0002360
  • Thin vermilion borderHP:0000233
  • Uterine ruptureHP:0100718