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Early-onset parkinsonism-intellectual disability syndrome

ORPHA:2379 · Disease · Disorder

HPO 表現型（共 9 項）

Very frequent (99-80%)(7)

  • Abnormal speech patternHP:0002167
  • Abnormality of movementHP:0100022
  • Cogwheel rigidityHP:0002396
  • Frontal bossingHP:0002007
  • Intellectual disabilityHP:0001249
  • MacrocephalyHP:0000256
  • RigidityHP:0002063

Frequent (79-30%)(2)

  • SeizureHP:0001250
  • StrabismusHP:0000486