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X-linked intellectual disability, Stevenson type

ORPHA:85325 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(14)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal facial shapeHP:0001999
  • AreflexiaHP:0001284
  • Broad columellaHP:0010761
  • Genu valgumHP:0002857
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Moderate intellectual disabilityHP:0002342
  • ObesityHP:0001513
  • Palpebral edemaHP:0100540
  • Severe intellectual disabilityHP:0010864
  • Tapered fingerHP:0001182
  • Thick nasal alaeHP:0009928
  • Thickened helicesHP:0000391

Frequent (79-30%)(8)

  • Abnormal pinna morphologyHP:0000377
  • Feeding difficultiesHP:0011968
  • Large handsHP:0001176
  • Long footHP:0001833
  • MicrodontiaHP:0000691
  • Tall statureHP:0000098
  • Tented upper lip vermilionHP:0010804
  • Thick eyebrowHP:0000574