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Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

ORPHA:320385 · Disease · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(1)

  • Recurrent respiratory infectionsHP:0002205

Frequent (79-30%)(17)

  • AreflexiaHP:0001284
  • BrachycephalyHP:0000248
  • Broad neckHP:0000475
  • Dental crowdingHP:0000678
  • DysarthriaHP:0001260
  • DysmetriaHP:0001310
  • Full cheeksHP:0000293
  • Gait ataxiaHP:0002066
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • Hypomimic faceHP:0000338
  • Intellectual disabilityHP:0001249
  • Low anterior hairlineHP:0000294
  • MicrocephalyHP:0000252
  • Round faceHP:0000311
  • Short neckHP:0000470
  • Short statureHP:0004322

Occasional (29-5%)(5)

  • Central apneaHP:0002871
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • Hypoplasia of the corpus callosumHP:0002079
  • SeizureHP:0001250