ORPHA:293633
PYCR1-related De Barsy syndrome
Also called PYCR1 deficiency, Pyrroline-5-carboxylate reductase 1 deficiency
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Not documented in Orphadata
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:293633 is classified under "Skin diseases" in the Orphanet nomenclature.