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X-linked intellectual disability, Porteous type

ORPHA:93945 · Clinical subtype · Subtype of disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(2)

  • Global developmental delayHP:0001263
  • Mild intellectual disabilityHP:0001256

Frequent (79-30%)(12)

  • Bulbous noseHP:0000414
  • Cupped earHP:0000378
  • Decreased body weightHP:0004325
  • Frontal baldingHP:0002292
  • Hypoplasia of the maxillaHP:0000327
  • Long faceHP:0000276
  • MacrotiaHP:0000400
  • Mandibular prognathiaHP:0000303
  • Narrow faceHP:0000275
  • Short philtrumHP:0000322
  • Short statureHP:0004322
  • StrabismusHP:0000486