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Bilateral striopallidodentate calcinosis

ORPHA:1980 · Disease · Disorder

HPO 表現型（共 33 項）

Frequent (79-30%)(15)

  • AnxietyHP:0000739
  • Basal ganglia calcificationHP:0002135
  • Bilateral basal ganglia lesionsHP:0007146
  • BradykinesiaHP:0002067
  • ChoreoathetosisHP:0001266
  • DementiaHP:0000726
  • HeadacheHP:0002315
  • Mask-like faciesHP:0000298
  • Personality changesHP:0000751
  • Progressive neurologic deteriorationHP:0002344
  • PsychosisHP:0000709
  • RigidityHP:0002063
  • SeizureHP:0001250
  • TremorHP:0001337
  • VertigoHP:0002321

Occasional (29-5%)(16)

  • Abnormal pyramidal signHP:0007256
  • Cerebellar calcificationsHP:0007352
  • ClumsinessHP:0002312
  • Diminished ability to concentrateHP:0031987
  • DyskinesiaHP:0100660
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Easy fatigabilityHP:0003388
  • HypertensionHP:0000822
  • ImpotenceHP:0000802
  • Involuntary movementsHP:0004305
  • Memory impairmentHP:0002354
  • Muscle spasmHP:0003394
  • Slurred speechHP:0001350
  • Unsteady gaitHP:0002317
  • Urinary urgencyHP:0000012

Excluded (0%)(2)

  • Abnormal circulating metabolite concentrationHP:0032180
  • Unusual CNS infectionHP:0011450