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X-linked intellectual disability, Schimke type

ORPHA:85285 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Frequent (79-30%)(14)

  • Absent speechHP:0001344
  • ChoreoathetosisHP:0001266
  • DyskinesiaHP:0100660
  • External ophthalmoplegiaHP:0000544
  • Failure to thrive in infancyHP:0001531
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • Intellectual disabilityHP:0001249
  • Poor head controlHP:0002421
  • Poor suckHP:0002033
  • Secondary microcephalyHP:0005484
  • Short statureHP:0004322
  • SpasticityHP:0001257

Occasional (29-5%)(12)

  • Ankle flexion contractureHP:0006466
  • Cerebral cortical atrophyHP:0002120
  • Deeply set eyeHP:0000490
  • Elbow flexion contractureHP:0002987
  • Gastrostomy tube feeding in infancyHP:0011471
  • High palateHP:0000218
  • Hip contractureHP:0003273
  • HydronephrosisHP:0000126
  • HyperreflexiaHP:0001347
  • Knee flexion contractureHP:0006380
  • Narrow nasal bridgeHP:0000446
  • Vesicoureteral refluxHP:0000076