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Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ORPHA:98791 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(5)

  • Abnormal speech patternHP:0002167
  • FatigueHP:0012378
  • HbH hemoglobinHP:0011903
  • Intellectual disabilityHP:0001249
  • Microcytic anemiaHP:0001935

Frequent (79-30%)(22)

  • Aplasia/Hypoplasia of the earlobesHP:0009906
  • Broad foreheadHP:0000337
  • Bruising susceptibilityHP:0000978
  • CryptorchidismHP:0000028
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • High foreheadHP:0000348
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Malar flatteningHP:0000272
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Pectus carinatumHP:0000768
  • Posteriorly rotated earsHP:0000358
  • RetrognathiaHP:0000278
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Short toeHP:0001831
  • Talipes equinovarusHP:0001762
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(5)

  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • Flexion contractureHP:0001371
  • Frontal bossingHP:0002007
  • HypospadiasHP:0000047
  • Underdeveloped supraorbital ridgesHP:0009891