← 返回搜尋

Beta-propeller protein-associated neurodegeneration

ORPHA:329284 · Disease · Disorder

HPO 表現型（共 22 項）

Frequent (79-30%)(19)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormality of eye movementHP:0000496
  • BradykinesiaHP:0002067
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • DementiaHP:0000726
  • DystoniaHP:0001332
  • Frontal release signsHP:0000743
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Iron accumulation in brainHP:0012675
  • Iron accumulation in substantia nigraHP:0012678
  • ParkinsonismHP:0001300
  • Poor speechHP:0002465
  • Progressive encephalopathyHP:0002448
  • RigidityHP:0002063
  • Sleep disturbanceHP:0002360
  • Spastic paraparesisHP:0002313
  • TremorHP:0001337

Occasional (29-5%)(3)

  • Aggressive behaviorHP:0000718
  • Optic atrophyHP:0000648
  • SeizureHP:0001250