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Spastic paraplegia-severe developmental delay-epilepsy syndrome

ORPHA:464282 · Disease · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(3)

  • Global developmental delayHP:0001263
  • Progressive spastic paraplegiaHP:0007020
  • SeizureHP:0001250

Frequent (79-30%)(23)

  • Absent pubertal growth spurtHP:0031087
  • AtaxiaHP:0001251
  • Axial hypotoniaHP:0008936
  • Deeply set eyeHP:0000490
  • Delayed speech and language developmentHP:0000750
  • Downturned corners of mouthHP:0002714
  • DysarthriaHP:0001260
  • DystoniaHP:0001332
  • ExophoriaHP:0025313
  • Gait disturbanceHP:0001288
  • Generalized myoclonic seizureHP:0002123
  • Hip dislocationHP:0002827
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • KyphosisHP:0002808
  • Lower limb spasticityHP:0002061
  • MyopiaHP:0000545
  • Retinal dystrophyHP:0000556
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • SpasticityHP:0001257
  • Unsteady gaitHP:0002317
  • Waddling gaitHP:0002515

Occasional (29-5%)(12)

  • Bilateral tonic-clonic seizureHP:0002069
  • Cerebral atrophyHP:0002059
  • Cerebral white matter atrophyHP:0012762
  • Delayed peripheral myelinationHP:0011401
  • Focal myoclonic seizureHP:0011166
  • Hypoplasia of the corpus callosumHP:0002079
  • MicrocephalyHP:0000252
  • ObesityHP:0001513
  • Puberty and gonadal disordersHP:0008373
  • Short statureHP:0004322
  • Structural foot deformityHP:0010219
  • Urinary incontinenceHP:0000020

Excluded (0%)(2)

  • Abnormality of the musculature of the lower limbsHP:0001437
  • FasciculationsHP:0002380