Rare Zebra

Rare disease search prototype built on Orphanet data

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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