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Autosomal recessive spastic paraplegia type 20

ORPHA:101000 · Disease · Disorder

HPO 表現型（共 52 項）

Frequent (79-30%)(30)

  • Abnormal brain morphologyHP:0012443
  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal foot morphologyHP:0001760
  • Abnormal hand morphologyHP:0005922
  • Abnormality of the handHP:0001155
  • Abnormality of the skeletal systemHP:0000924
  • Babinski signHP:0003487
  • Cognitive impairmentHP:0100543
  • ConstipationHP:0002019
  • Delayed speech and language developmentHP:0000750
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • DysuriaHP:0100518
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HyperreflexiaHP:0001347
  • HypertelorismHP:0000316
  • Impaired vibratory sensationHP:0002495
  • Increased overbiteHP:0011094
  • Joint hypermobilityHP:0001382
  • Motor delayHP:0001270
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202
  • Slurred speechHP:0001350
  • Spastic dysarthriaHP:0002464
  • Spastic paraparesisHP:0002313
  • SpasticityHP:0001257
  • Specific learning disabilityHP:0001328
  • Upper limb muscle weaknessHP:0003484

Occasional (29-5%)(21)

  • Abnormal nostril morphologyHP:0005288
  • Abnormal thumb morphologyHP:0001172
  • Ankle clonusHP:0011448
  • AnxietyHP:0000739
  • ClinodactylyHP:0030084
  • Distal amyotrophyHP:0003693
  • Downslanted palpebral fissuresHP:0000494
  • Emotional labilityHP:0000712
  • EpicanthusHP:0000286
  • Genu valgumHP:0002857
  • HallucinationsHP:0000738
  • Hoarse voiceHP:0001609
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • Panic attackHP:0025269
  • Pes cavusHP:0001761
  • Prominent noseHP:0000448
  • PsychosisHP:0000709
  • Sleep disturbanceHP:0002360
  • Spastic gaitHP:0002064
  • Speech apraxiaHP:0011098

Very rare (<4-1%)(1)

  • HydronephrosisHP:0000126