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Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
ORPHA:247691 · Disease · Disorder
HPO 表現型（共 50 項）
Very frequent (99-80%)(3)
- Abnormal cerebral white matter morphologyHP:0002500
- Abnormal retinal vascular morphologyHP:0008046
- Raynaud phenomenonHP:0030880
Frequent (79-30%)(16)
- Abnormality of the hepatic vasculatureHP:0006707
- Atypical behaviorHP:0000708
- Brain imaging abnormalityHP:0410263
- Cognitive impairmentHP:0100543
- Compensated hypothyroidismHP:0008223
- Elevated circulating alkaline phosphatase concentrationHP:0003155
- Elevated circulating creatinine concentrationHP:0003259
- Elevated gamma-glutamyltransferase levelHP:0030948
- Glomerular sclerosisHP:0000096
- HypertensionHP:0000822
- MigraineHP:0002076
- NephropathyHP:0000112
- Nodular regenerative hyperplasia of liverHP:0011954
- Normochromic anemiaHP:0001895
- Normocytic anemiaHP:0001897
- ProteinuriaHP:0000093
Occasional (29-5%)(28)
- AnxietyHP:0000739
- ApathyHP:0000741
- AphasiaHP:0002381
- CardiomyopathyHP:0001638
- Cerebral calcificationHP:0002514
- DepressionHP:0000716
- Focal hyperintensity of cerebral white matter on MRIHP:0040328
- Focal hypointensity of cerebral white matter on MRIHP:0040331
- Focal sensory seizure with somatosensory featuresHP:0011163
- Gastrointestinal hemorrhageHP:0002239
- Generalized-onset seizureHP:0002197
- GlaucomaHP:0000501
- HemianopiaHP:0012377
- HemiparesisHP:0001269
- IrritabilityHP:0000737
- Macular edemaHP:0040049
- Memory impairmentHP:0002354
- Migraine with auraHP:0002077
- Migraine without auraHP:0002083
- PneumoniaHP:0002090
- Progressive neurologic deteriorationHP:0002344
- PsychosisHP:0000709
- Retinal cotton wool spotHP:0031606
- Retinal neovascularizationHP:0030666
- SepsisHP:0100806
- TelangiectasiaHP:0001009
- Visual field defectHP:0001123
- Weakness of facial musculatureHP:0030319
Very rare (<4-1%)(3)
- Avascular necrosis of the capital femoral epiphysisHP:0005743
- Punctate vasculitis skin lesionsHP:0200030
- Skin rashHP:0000988