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X-linked alpha-thalassemia-intellectual disability syndrome

ORPHA:847 · Malformation syndrome · Disorder

HPO 表現型（共 66 項）

Very frequent (99-80%)(14)

  • Abnormal fontanelle morphologyHP:0011328
  • Abnormality of the faceHP:0000271
  • Abnormality of the male genitaliaHP:0010461
  • Ambiguous genitaliaHP:0000062
  • AphasiaHP:0002381
  • Atypical behaviorHP:0000708
  • CryptorchidismHP:0000028
  • Flat faceHP:0012368
  • Gastroesophageal refluxHP:0002020
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Male pseudohermaphroditismHP:0000037
  • MicrocephalyHP:0000252
  • Profound global developmental delayHP:0012736

Frequent (79-30%)(21)

  • Abnormal hemoglobinHP:0011902
  • Anteverted naresHP:0000463
  • AutismHP:0000717
  • Depressed nasal ridgeHP:0000457
  • DroolingHP:0002307
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • Hypoplasia of penisHP:0008736
  • KyphosisHP:0002808
  • MacroglossiaHP:0000158
  • Midface retrusionHP:0011800
  • Motor delayHP:0001270
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360
  • Talipes equinovarusHP:0001762
  • TelecanthusHP:0000506
  • Tented upper lip vermilionHP:0010804
  • Thick lower lip vermilionHP:0000179
  • U-Shaped upper lip vermilionHP:0010806
  • Visual impairmentHP:0000505

Occasional (29-5%)(31)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of movementHP:0100022
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the kidneyHP:0000077
  • Aganglionic megacolonHP:0002251
  • Agenesis of corpus callosumHP:0001274
  • AnemiaHP:0001903
  • BlindnessHP:0000618
  • BrachydactylyHP:0001156
  • Cerebral cortical atrophyHP:0002120
  • Clinodactyly of the 5th fingerHP:0004209
  • ConstipationHP:0002019
  • Death in infancyHP:0001522
  • DepressionHP:0000716
  • Feeding difficulties in infancyHP:0008872
  • Flexion contractureHP:0001371
  • Growth delayHP:0001510
  • HydronephrosisHP:0000126
  • HypotoniaHP:0001252
  • Infectious encephalitisHP:0002383
  • Joint stiffnessHP:0001387
  • MyopiaHP:0000545
  • Nausea and vomitingHP:0002017
  • Optic atrophyHP:0000648
  • OsteoporosisHP:0000939
  • Recurrent urinary tract infectionsHP:0000010
  • ScoliosisHP:0002650
  • Self-injurious behaviorHP:0100716
  • Sensorineural hearing impairmentHP:0000407
  • Spastic paraplegiaHP:0001258
  • VolvulusHP:0002580