← 返回搜尋

Andersen-Tawil syndrome

ORPHA:37553 · Disease · Disorder

HPO 表現型（共 51 項）

Obligate (100%)(2)

  • Muscle weaknessHP:0001324
  • Periodic paralysisHP:0003768

Very frequent (99-80%)(1)

  • Episodic flaccid weaknessHP:0003752

Frequent (79-30%)(7)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the dentitionHP:0000164
  • MicrognathiaHP:0000347
  • Periodic hypokalemic paresisHP:0008153
  • Prolonged QT intervalHP:0001657
  • Short statureHP:0004322
  • Ventricular arrhythmiaHP:0004308

Occasional (29-5%)(38)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal T-waveHP:0005135
  • Abnormality of dental colorHP:0011073
  • Bidirectional ventricular ectopyHP:0005147
  • Broad foreheadHP:0000337
  • Bulbous noseHP:0000414
  • Clinodactyly of the 5th toeHP:0001864
  • Dental crowdingHP:0000678
  • Dilated cardiomyopathyHP:0001644
  • Facial asymmetryHP:0000324
  • Growth delayHP:0001510
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Hypoplasia of the maxillaHP:0000327
  • Increased circulating aldosterone concentrationHP:0000859
  • Joint hypermobilityHP:0001382
  • Low-set earsHP:0000369
  • Neurodevelopmental delayHP:0012758
  • OligodontiaHP:0000677
  • PalpitationsHP:0001962
  • Periodic hyperkalemic paralysisHP:0007215
  • Persistence of primary teethHP:0006335
  • Polymorphic and polytopic ventricular extrasystolesHP:0006696
  • Polymorphic ventricular tachycardiaHP:0031677
  • Premature ventricular contractionHP:0006682
  • Prolonged QTc intervalHP:0005184
  • Prominent U waveHP:0025072
  • ScaphocephalyHP:0030799
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short footHP:0001773
  • Short palpebral fissureHP:0012745
  • Small handHP:0200055
  • Specific learning disabilityHP:0001328
  • Thin upper lip vermilionHP:0000219
  • Torsade de pointesHP:0001664
  • Triangular faceHP:0000325
  • Wide nasal bridgeHP:0000431

Very rare (<4-1%)(3)

  • Renal hypoplasiaHP:0000089
  • Renal tubular dysfunctionHP:0000124
  • SyncopeHP:0001279