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Thoracic dysplasia-hydrocephalus syndrome

ORPHA:1861 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(4)

  • Communicating hydrocephalusHP:0001334
  • Limb undergrowthHP:0009826
  • Narrow chestHP:0000774
  • Short statureHP:0004322

Frequent (79-30%)(9)

  • Abnormal metaphysis morphologyHP:0000944
  • AtaxiaHP:0001251
  • Conductive hearing impairmentHP:0000405
  • Depressed nasal ridgeHP:0000457
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Respiratory failureHP:0002878
  • SeizureHP:0001250