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Hereditary hyperekplexia

ORPHA:3197 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(13)

  • Abnormality of movementHP:0100022
  • AtaxiaHP:0001251
  • EsophagitisHP:0100633
  • FasciculationsHP:0002380
  • Gastroesophageal refluxHP:0002020
  • Hiatus herniaHP:0002036
  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276
  • Joint stiffnessHP:0001387
  • Muscle stiffnessHP:0003552
  • MyoclonusHP:0001336
  • RigidityHP:0002063
  • SpasticityHP:0001257

Frequent (79-30%)(4)

  • Gait disturbanceHP:0001288
  • HerniaHP:0100790
  • Sleep disturbanceHP:0002360
  • Umbilical herniaHP:0001537

Occasional (29-5%)(4)

  • Hip dislocationHP:0002827
  • Intellectual disabilityHP:0001249
  • Joint dislocationHP:0001373
  • SeizureHP:0001250