| Disease ID | Source | Name | Description |
| 261640 | OMIM | Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) | An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet. The disease is caused by variants affecting the gene represented in this entry. |