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Autosomal spastic paraplegia type 18

ORPHA:209951 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(11)

  • Ankle flexion contractureHP:0006466
  • Bilateral wrist flexion contractureHP:0012453
  • Distal muscle weaknessHP:0002460
  • Elbow flexion contractureHP:0002987
  • Flexion contractureHP:0001371
  • Global developmental delayHP:0001263
  • HyperreflexiaHP:0001347
  • Inability to walkHP:0002540
  • Intellectual disabilityHP:0001249
  • Knee flexion contractureHP:0006380
  • Upper limb hyperreflexiaHP:0007350

Frequent (79-30%)(6)

  • Absent speechHP:0001344
  • Babinski signHP:0003487
  • Hypoplasia of the corpus callosumHP:0002079
  • MacroglossiaHP:0000158
  • SpasticityHP:0001257
  • Wide mouthHP:0000154

Occasional (29-5%)(17)

  • Abnormal lumbar spine morphologyHP:0100712
  • Abnormal pinna morphologyHP:0000377
  • Ankle clonusHP:0011448
  • DysphagiaHP:0002015
  • Flexion contracture of toeHP:0005830
  • Hand tremorHP:0002378
  • High palateHP:0000218
  • Hip contractureHP:0003273
  • Horizontal nystagmusHP:0000666
  • Impaired vibration sensation in the lower limbsHP:0002166
  • Neck joint contractureHP:0005997
  • Rotary nystagmusHP:0001583
  • SeizureHP:0001250
  • Short philtrumHP:0000322
  • Spinal rigidityHP:0003306
  • SynophrysHP:0000664
  • Thick eyebrowHP:0000574