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Dihydropteridine reductase deficiency
ORPHA:226 · Clinical subtype · Subtype of disorder
HPO 表現型（共 4 項）
Very frequent (99-80%)(4)
- DysphagiaHP:0002015
- Global developmental delayHP:0001263
- Intellectual disabilityHP:0001249
- MicrocephalyHP:0000252