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Galactokinase deficiency

ORPHA:79237 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(4)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • HypergalactosemiaHP:0012024
  • Increased circulating galactitol concentrationHP:0410061
  • Increased level of galactitol in urineHP:0410062

Frequent (79-30%)(2)

  • CataractHP:0000518
  • Nuclear cataractHP:0100018

Occasional (29-5%)(9)

  • HepatomegalyHP:0002240
  • HepatosplenomegalyHP:0001433
  • Hypergonadotropic hypogonadismHP:0000815
  • HyperinsulinemiaHP:0000842
  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270
  • Premature ovarian insufficiencyHP:0008209
  • Small for gestational ageHP:0001518
  • Speech apraxiaHP:0011098

Very rare (<4-1%)(11)

  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • HypercholesterolemiaHP:0003124
  • HypoglycemiaHP:0001943
  • MicrocephalyHP:0000252
  • Neonatal asphyxiaHP:0012768
  • Premature birthHP:0001622
  • Psychomotor deteriorationHP:0002361
  • Reduced circulating complement concentrationHP:0004431
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407