C129029Level 6
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive disorder caused by mutation(s) in the SLC25A15 gene, encoding mitochondrial ornithine transporter 1. The condition is characterized by failure to thrive, liver dysfunction, psychomotor retardation, encephalopathy and seizures.
**Synonyms:** - HHH
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