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Systemic primary carnitine deficiency
ORPHA:158 · Disease · Disorder
HPO 表現型（共 9 項）
Very frequent (99-80%)(9)
- Acute encephalopathyHP:0006846
- Bilateral tonic-clonic seizure with focal onsetHP:0007334
- ClumsinessHP:0002312
- ConfusionHP:0001289
- Elevated circulating hepatic transaminase concentrationHP:0002910
- HepatomegalyHP:0002240
- Muscle weaknessHP:0001324
- Neck muscle weaknessHP:0000467
- VomitingHP:0002013