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Congenital unilateral hypoplasia of depressor anguli oris

ORPHA:1166 · Morphological anomaly · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(2)

  • Abnormal lower lip morphologyHP:0000178
  • Asymmetric crying faceHP:0011333

Frequent (79-30%)(15)

  • Cerebral cortical atrophyHP:0002120
  • Cleft palateHP:0000175
  • Congenital diaphragmatic herniaHP:0000776
  • CryptorchidismHP:0000028
  • HypertoniaHP:0001276
  • Joint stiffnessHP:0001387
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Multiple renal cystsHP:0005562
  • Protruding earHP:0000411
  • Renal hypoplasia/aplasiaHP:0008678
  • Respiratory insufficiencyHP:0002093
  • Short statureHP:0004322
  • Tooth agenesisHP:0009804
  • Vesicoureteral refluxHP:0000076

Occasional (29-5%)(9)

  • Abnormal aortic morphologyHP:0001679
  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal hip bone morphologyHP:0003272
  • Abnormality of the pulmonary arteryHP:0004414
  • Abnormality of the respiratory systemHP:0002086
  • Global developmental delayHP:0001263
  • Tetralogy of FallotHP:0001636
  • Ventricular septal defectHP:0001629
  • Vertebral segmentation defectHP:0003422