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Brain-lung-thyroid syndrome

ORPHA:209905 · Disease · Disorder

HPO 表現型（共 60 項）

Very frequent (99-80%)(1)

  • Abnormality of the thyroid glandHP:0000820

Frequent (79-30%)(9)

  • Abnormality of the nervous systemHP:0000707
  • Abnormality of the respiratory systemHP:0002086
  • AtaxiaHP:0001251
  • ChoreaHP:0002072
  • ChoreoathetosisHP:0001266
  • Congenital hypothyroidismHP:0000851
  • Floppy infantHP:0008947
  • Neonatal respiratory distressHP:0002643
  • Respiratory distressHP:0002098

Occasional (29-5%)(25)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal pulmonary interstitial morphologyHP:0006530
  • ApraxiaHP:0002186
  • Atrial septal defectHP:0001631
  • ClumsinessHP:0002312
  • Compensated hypothyroidismHP:0008223
  • DysarthriaHP:0001260
  • DystoniaHP:0001332
  • Elevated circulating thyroid-stimulating hormone concentrationHP:0002925
  • Failure to thriveHP:0001508
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • IncoordinationHP:0002311
  • Intention tremorHP:0002080
  • Involuntary movementsHP:0004305
  • Mild intellectual disabilityHP:0001256
  • Motor delayHP:0001270
  • MyoclonusHP:0001336
  • Pulmonary arterial hypertensionHP:0002092
  • Recurrent pneumoniaHP:0006532
  • Recurrent respiratory infectionsHP:0002205
  • Sensorineural hearing impairmentHP:0000407
  • Thyroid dysgenesisHP:0008188
  • Thyroid hemiagenesisHP:0011780
  • Ventricular septal defectHP:0001629

Very rare (<4-1%)(25)

  • Abnormal drinking behaviorHP:0030082
  • Abnormal eating behaviorHP:0100738
  • Abnormal facial shapeHP:0001999
  • Abnormal sella turcica morphologyHP:0002679
  • Agenesis of corpus callosumHP:0001274
  • AsthmaHP:0002099
  • Cavum septum pellucidumHP:0002389
  • Compulsive behaviorsHP:0000722
  • FallsHP:0002527
  • HyperactivityHP:0000752
  • HypodontiaHP:0000668
  • HypoparathyroidismHP:0000829
  • HypospadiasHP:0000047
  • MegacystisHP:0000021
  • MicrocephalyHP:0000252
  • Patent foramen ovaleHP:0001655
  • Pulmonary fibrosisHP:0002206
  • Respiratory failureHP:0002878
  • SchizophreniaHP:0100753
  • Short attention spanHP:0000736
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360
  • Unexplained feversHP:0001955
  • Vesicoureteral refluxHP:0000076
  • Webbed neckHP:0000465