| Disease ID | Source | Name | Description |
| 238970 | OMIM | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) | An autosomal recessive disorder of the urea cycle characterized by onset in early life. The acute phase of the disease is characterized by vomiting, ataxia, lethargy, confusion, and coma. Chronic clinical manifestations include hypotonia, developmental delay, progressive encephalopathy with mental regression, and spastic paraparesis with pyramidal signs. The disease is caused by variants affecting the gene represented in this entry. |