| Disease ID | Source | Name | Description |
| 617384 | OMIM | Hyperphenylalaninemia, mild, non-BH4-deficient (HPANBH4) | An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability. The disease is caused by variants affecting the gene represented in this entry. |