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3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome

ORPHA:445038 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(6)

  • 3-Methylglutaconic aciduriaHP:0003535
  • CataractHP:0000518
  • Decreased total neutrophil countHP:0001875
  • NephrocalcinosisHP:0000121
  • Primary microcephalyHP:0011451
  • Renal cystHP:0000107

Frequent (79-30%)(21)

  • Abnormal basal ganglia morphologyHP:0002134
  • Abnormal pyramidal signHP:0007256
  • Abnormality of extrapyramidal motor functionHP:0002071
  • Bone marrow hypocellularityHP:0005528
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • ChoreoathetosisHP:0001266
  • Delayed gross motor developmentHP:0002194
  • Developmental regressionHP:0002376
  • EncephalopathyHP:0001298
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • HyperreflexiaHP:0001347
  • HypotoniaHP:0001252
  • Increased circulating lactate concentrationHP:0002151
  • Infection associated neutropeniaHP:0410256
  • Intellectual disabilityHP:0001249
  • MyoclonusHP:0001336
  • OpisthotonusHP:0002179
  • Progressive extrapyramidal movement disorderHP:0007153
  • SpasticityHP:0001257

Occasional (29-5%)(10)

  • CardiomyopathyHP:0001638
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Hepatic steatosisHP:0001397
  • HypertoniaHP:0001276
  • HypothyroidismHP:0000821
  • Neonatal hypoglycemiaHP:0001998
  • NystagmusHP:0000639
  • Renal insufficiencyHP:0000083
  • Respiratory failureHP:0002878
  • SeizureHP:0001250

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

  • PneumothoraxHP:0002107