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Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

ORPHA:1192 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(9)

  • Abnormality of mitochondrial metabolismHP:0003287
  • AnemiaHP:0001903
  • Cerebral artery atherosclerosisHP:0007201
  • Coronary artery atherosclerosisHP:0001677
  • Photosensitive myoclonic seizureHP:0001327
  • Progressive neurologic deteriorationHP:0002344
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Type I diabetes mellitusHP:0100651

Frequent (79-30%)(14)

  • Abnormal mitral valve morphologyHP:0001633
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Arterial stenosisHP:0100545
  • Cerebral cortical atrophyHP:0002120
  • CryptorchidismHP:0000028
  • Gait disturbanceHP:0001288
  • HyperlordosisHP:0003307
  • HypertensionHP:0000822
  • HypertoniaHP:0001276
  • Limitation of joint mobilityHP:0001376
  • NephropathyHP:0000112
  • Nephrotic syndromeHP:0000100
  • ProteinuriaHP:0000093
  • TremorHP:0001337