ORPHA:238517
Hypotonia-cystinuria type 1 syndrome
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Europe)
- Rarity class
- <1 / 1 000 000
ORPHA:238517 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.