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Familial infantile bilateral striatal necrosis

ORPHA:225154 · Disease · Disorder

HPO 表現型（共 36 項）

Frequent (79-30%)(23)

  • Abnormal speech patternHP:0002167
  • AtaxiaHP:0001251
  • Atrophy/Degeneration involving the caudate nucleusHP:0007374
  • Babinski signHP:0003487
  • Basal ganglia gliosisHP:0006999
  • ChoreoathetosisHP:0001266
  • Delayed speech and language developmentHP:0000750
  • Developmental regressionHP:0002376
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Failure to thriveHP:0001508
  • Floppy infantHP:0008947
  • Gait ataxiaHP:0002066
  • Gait disturbanceHP:0001288
  • Horizontal pendular nystagmusHP:0007811
  • HyperreflexiaHP:0001347
  • Mild intellectual disabilityHP:0001256
  • Neurodevelopmental delayHP:0012758
  • Optic atrophyHP:0000648
  • Spastic tetraparesisHP:0001285
  • SpasticityHP:0001257
  • TetraparesisHP:0002273

Occasional (29-5%)(13)

  • AstrocytosisHP:0002446
  • Basal ganglia cystsHP:0006799
  • Cogwheel rigidityHP:0002396
  • Frequent fallsHP:0002359
  • Gastroesophageal refluxHP:0002020
  • HypertoniaHP:0001276
  • Loss of ambulationHP:0002505
  • Lower limb muscle weaknessHP:0007340
  • MyoclonusHP:0001336
  • RigidityHP:0002063
  • Small basal gangliaHP:0012697
  • Undetectable light- and dark-adapted electroretinogramHP:0007688
  • Upper limb muscle weaknessHP:0003484