BH4-deficient hyperphenylalaninemia C
ORPHA: 226
Overview
genetic metabolic disorder
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with BH4-deficient hyperphenylalaninemia C, sourced from HPO and Orphanet clinical annotations.
MicrocephalyIntellectual disabilityGlobal developmental delayDysphagia
Classification & Codes
Orphanet Code
ORPHA:226BH4-deficient hyperphenylalaninemia C
| Orphanet | ORPHA:226 |
| Treatments | 0 drug(s) |
| Symptoms on record | 4 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO