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EAST syndrome

ORPHA:199343 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(16)

  • Abnormal urinary electrolyte concentrationHP:0012591
  • AtaxiaHP:0001251
  • Generalized-onset seizureHP:0002197
  • Global developmental delayHP:0001263
  • HypokalemiaHP:0002900
  • HypomagnesemiaHP:0002917
  • Increased circulating aldosterone concentrationHP:0000859
  • Increased circulating renin concentrationHP:0000848
  • Intellectual disabilityHP:0001249
  • Metabolic alkalosisHP:0200114
  • Renal magnesium wastingHP:0005567
  • Renal salt wastingHP:0000127
  • Renal sodium wastingHP:0012606
  • Salt cravingHP:0030083
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(3)

  • Action tremorHP:0002345
  • EnuresisHP:0000805
  • PolydipsiaHP:0001959

Occasional (29-5%)(7)

  • Absent speechHP:0001344
  • Cerebellar atrophyHP:0001272
  • Gait disturbanceHP:0001288
  • Inability to walkHP:0002540
  • Lower limb muscle weaknessHP:0007340
  • Peripheral axonal neuropathyHP:0003477
  • Peripheral hypomyelinationHP:0007182