World Of Taxonomy
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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