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- Beb7eafb987b1a519fa3a9c8fbe539c84 hasDbXref "Orphanet:226" @default.
- Beb7eafb987b1a519fa3a9c8fbe539c84 type Axiom @default.
- Beb7eafb987b1a519fa3a9c8fbe539c84 annotatedProperty IAO_0000115 @default.
- Beb7eafb987b1a519fa3a9c8fbe539c84 annotatedSource MONDO_0009862 @default.
- Beb7eafb987b1a519fa3a9c8fbe539c84 annotatedTarget "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." @default.