← 返回搜尋

8q12 microduplication syndrome

ORPHA:228399 · Malformation syndrome · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(6)

  • Duane anomalyHP:0009921
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Long palpebral fissureHP:0000637
  • Sensorineural hearing impairmentHP:0000407
  • Ventricular septal defectHP:0001629

Frequent (79-30%)(14)

  • Abnormal cranial nerve morphologyHP:0001291
  • Atrial septal defectHP:0001631
  • Attention deficit hyperactivity disorderHP:0007018
  • BrachycephalyHP:0000248
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • Gastroesophageal refluxHP:0002020
  • Highly arched eyebrowHP:0002553
  • Long philtrumHP:0000343
  • Narrow mouthHP:0000160
  • Short footHP:0001773
  • TelecanthusHP:0000506
  • Vesicoureteral refluxHP:0000076
  • Wide nasal bridgeHP:0000431