ORPHA:708651
Phosphoribosylformylglycinamidine synthase deficiency
Also called PFAS deficiency
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:708651 is classified under "Neurological diseases" in the Orphanet nomenclature.