← 返回搜尋

SERKAL syndrome

ORPHA:139466 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Obligate (100%)(5)

  • Growth delayHP:0001510
  • OligohydramniosHP:0001562
  • Pulmonary hypoplasiaHP:0002089
  • Renal agenesisHP:0000104
  • Sex reversalHP:0012245

Frequent (79-30%)(10)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal penis morphologyHP:0000036
  • Abnormality of the adrenal glandsHP:0000834
  • Congenital diaphragmatic herniaHP:0000776
  • Hypoplasia of the bladderHP:0005343
  • HypospadiasHP:0000047
  • Malrotation of small bowelHP:0004794
  • Orofacial cleftHP:0000202
  • Pulmonic stenosisHP:0001642
  • Ventricular septal defectHP:0001629