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Dural sinus malformation with arteriovenous shunt

ORPHA:97339 · Morphological anomaly · Disorder

HPO 表現型（共 48 項）

Frequent (79-30%)(5)

  • Abnormal thrombosisHP:0001977
  • Arteriovenous fistulaHP:0004947
  • Central nervous system cystHP:0030724
  • HydrocephalusHP:0000238
  • Pulsatile tinnitusHP:0008629

Occasional (29-5%)(28)

  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal facial vein morphologyHP:3000043
  • Abnormal posterior cranial fossa morphologyHP:0000932
  • Abnormality of visionHP:0000504
  • Carotid cavernous fistulaHP:0031157
  • Cerebellar hemorrhageHP:0011695
  • Cerebral hemorrhageHP:0001342
  • ChemosisHP:0012375
  • GlaucomaHP:0000501
  • HeadacheHP:0002315
  • Increased intracranial pressureHP:0002516
  • Intracranial hemorrhageHP:0002170
  • Language impairmentHP:0002463
  • MacrocephalyHP:0000256
  • Mental deteriorationHP:0001268
  • Mild global developmental delayHP:0011342
  • Muscle weaknessHP:0001324
  • MyelopathyHP:0002196
  • Nausea and vomitingHP:0002017
  • Ocular hypertensionHP:0007906
  • PapilledemaHP:0001085
  • Poor coordinationHP:0002370
  • ProptosisHP:0000520
  • Somatic sensory dysfunctionHP:0003474
  • StrokeHP:0001297
  • Subarachnoid hemorrhageHP:0002138
  • Subdural hemorrhageHP:0100309
  • Visual lossHP:0000572

Very rare (<4-1%)(15)

  • Abnormal speech patternHP:0002167
  • ApathyHP:0000741
  • AtaxiaHP:0001251
  • Cerebral edemaHP:0002181
  • Cranial nerve paralysisHP:0006824
  • DementiaHP:0000726
  • DiplopiaHP:0000651
  • Ear painHP:0030766
  • HemiparesisHP:0001269
  • Hypoplasia of the frontal lobesHP:0007333
  • Moderate global developmental delayHP:0011343
  • ParkinsonismHP:0001300
  • SeizureHP:0001250
  • TetraparesisHP:0002273
  • Vascular dilatationHP:0002617