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Isolated sedoheptulokinase deficiency

ORPHA:440713 · Disease · Disorder

HPO 表現型（共 28 項）

Obligate (100%)(3)

  • Arthrogryposis multiplex congenitaHP:0002804
  • Flexion contractureHP:0001371
  • Neonatal asphyxiaHP:0012768

Frequent (79-30%)(25)

  • Abnormal CNS myelinationHP:0011400
  • Abnormal renal tubule morphologyHP:0000091
  • Abnormality of globe locationHP:0100886
  • AnemiaHP:0001903
  • Breech presentationHP:0001623
  • CholestasisHP:0001396
  • Cholestatic liver diseaseHP:0002611
  • Diastasis rectiHP:0001540
  • HepatitisHP:0012115
  • High foreheadHP:0000348
  • Hip dysplasiaHP:0001385
  • Hypochromic microcytic anemiaHP:0004840
  • HypotelorismHP:0000601
  • Inguinal herniaHP:0000023
  • Large fontanellesHP:0000239
  • MacrocephalyHP:0000256
  • Portal hypertensionHP:0001409
  • Postprandial hyperglycemiaHP:0011998
  • Renal insufficiencyHP:0000083
  • Severe postnatal growth retardationHP:0008850
  • Shallow orbitsHP:0000586
  • Short statureHP:0004322
  • SteatorrheaHP:0002570
  • Subcortical cerebral atrophyHP:0012157
  • VentriculomegalyHP:0002119