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Severe intellectual disability and progressive spastic paraplegia

ORPHA:280763 · Disease · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(4)

  • HypotoniaHP:0001252
  • MicrocephalyHP:0000252
  • Progressive spastic paraplegiaHP:0007020
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(16)

  • Babinski signHP:0003487
  • Bulbous noseHP:0000414
  • Cerebellar atrophyHP:0001272
  • Cerebral cortical atrophyHP:0002120
  • Coarse facial featuresHP:0000280
  • DroolingHP:0002307
  • DystoniaHP:0001332
  • Facial hypotoniaHP:0000297
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • HyperreflexiaHP:0001347
  • Poor speechHP:0002465
  • Short statureHP:0004322
  • Spastic dysarthriaHP:0002464
  • SpasticityHP:0001257
  • Waddling gaitHP:0002515

Occasional (29-5%)(12)

  • Abnormal periventricular white matter morphologyHP:0002518
  • Everted upper lip vermilionHP:0010803
  • Excessive shynessHP:0100962
  • High palateHP:0000218
  • Hypoplasia of the corpus callosumHP:0002079
  • Motor stereotypyHP:0000733
  • Narrow foreheadHP:0000341
  • OverweightHP:0025502
  • Pes planusHP:0001763
  • SeizureHP:0001250
  • Short philtrumHP:0000322
  • Wide mouthHP:0000154

Very rare (<4-1%)(5)

  • Acetabular dysplasiaHP:0008807
  • AmblyopiaHP:0000646
  • Generalized joint hypermobilityHP:0002761
  • Genu recurvatumHP:0002816
  • StrabismusHP:0000486