eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hyperphenylalaninemia |
| Comorbidity | C0013421|dystonia |
| Sentences | 1 |
| PubMedID- 25808955 | In humans, mutations in the gch1 gene can be recessive or cause a dominant dopa-responsive dystonia, with or without hyperphenylalaninemia (hpa) (ichinose et al. |
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