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X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

ORPHA:85317 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(9)

  • Bilateral single transverse palmar creasesHP:0007598
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • HypertrichosisHP:0000998
  • Mandibular prognathiaHP:0000303
  • Moderate intellectual disabilityHP:0002342
  • Progressive neurologic deteriorationHP:0002344
  • Prominent metopic ridgeHP:0005487
  • SeizureHP:0001250
  • SynophrysHP:0000664

Frequent (79-30%)(12)

  • AtaxiaHP:0001251
  • Cerebellar atrophyHP:0001272
  • Cleft palateHP:0000175
  • Gait disturbanceHP:0001288
  • HypertelorismHP:0000316
  • KyphosisHP:0002808
  • Muscle weaknessHP:0001324
  • Peripheral neuropathyHP:0009830
  • Prominent supraorbital ridgesHP:0000336
  • Protruding earHP:0000411
  • ScoliosisHP:0002650
  • Short philtrumHP:0000322