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Brain malformation-congenital heart disease-postaxial polydactyly syndrome

ORPHA:75389 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(13)

  • Abnormal pinna morphologyHP:0000377
  • Anteverted naresHP:0000463
  • Depressed nasal bridgeHP:0005280
  • Everted lower lip vermilionHP:0000232
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • Long philtrumHP:0000343
  • Nail dystrophyHP:0008404
  • Postaxial hand polydactylyHP:0001162
  • Severe global developmental delayHP:0011344
  • Short statureHP:0004322
  • Upslanted palpebral fissureHP:0000582
  • Ventricular septal defectHP:0001629

Frequent (79-30%)(9)

  • AlopeciaHP:0001596
  • Aplasia/Hypoplasia of the cerebellar vermisHP:0006817
  • Atrial septal defectHP:0001631
  • Brittle hairHP:0002299
  • Cerebellar hypoplasiaHP:0001321
  • Coarse hairHP:0002208
  • Pulmonary artery stenosisHP:0004415
  • Renal hypoplasiaHP:0000089
  • Wide intermamillary distanceHP:0006610

Occasional (29-5%)(2)

  • Abnormality of the anterior pituitaryHP:0011747
  • Posterior pituitary hypoplasiaHP:0011757