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Allan-Herndon-Dudley syndrome

ORPHA:59 · Disease · Disorder

HPO 表現型（共 54 項）

Very frequent (99-80%)(2)

  • Axial hypotoniaHP:0008936
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(29)

  • Abnormal pyramidal signHP:0007256
  • Abnormality of thyroid physiologyHP:0002926
  • AtaxiaHP:0001251
  • Brain atrophyHP:0012444
  • ChoreoathetosisHP:0001266
  • Decreased body mass indexHP:0045082
  • Delayed ability to walkHP:0031936
  • Delayed myelinationHP:0012448
  • Delayed speech and language developmentHP:0000750
  • DystoniaHP:0001332
  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • HyperhidrosisHP:0000975
  • HyperreflexiaHP:0001347
  • HypertensionHP:0000822
  • HypokinesiaHP:0002375
  • Increased circulating free T3HP:0011788
  • KyphoscoliosisHP:0002751
  • Long faceHP:0000276
  • Myopathic faciesHP:0002058
  • Narrow faceHP:0000275
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • Pes valgusHP:0008081
  • Recurrent respiratory infectionsHP:0002205
  • Skeletal muscle atrophyHP:0003202
  • Sleep disturbanceHP:0002360
  • SpasticityHP:0001257
  • TachycardiaHP:0001649

Occasional (29-5%)(18)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • Ankle clonusHP:0011448
  • Babinski signHP:0003487
  • Brisk reflexesHP:0001348
  • CryptorchidismHP:0000028
  • Decreased fetal movementHP:0001558
  • Flexion contractureHP:0001371
  • Generalized muscle weaknessHP:0003324
  • Limb hypertoniaHP:0002509
  • MicrocephalyHP:0000252
  • Moderate intellectual disabilityHP:0002342
  • Neonatal hypotoniaHP:0001319
  • NystagmusHP:0000639
  • Poor head controlHP:0002421
  • Prolonged neonatal jaundiceHP:0006579
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Spastic tetraplegiaHP:0002510

Very rare (<4-1%)(5)

  • DyskinesiaHP:0100660
  • Macrocephaly at birthHP:0004488
  • PolyhydramniosHP:0001561
  • Premature birthHP:0001622
  • Small for gestational ageHP:0001518