ORPHA:163690
Hypotonia-cystinuria syndrome
Also called HCS
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:163690 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Failure to thrive
- Growth delay
- Decreased fetal movement
- Hypernasal speech
- Polyphagia
- Cystinuria