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Hypotonia-cystinuria syndrome

Disease definition

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

ORPHA:163690

Classification level: Disorder
  • Synonym(s):
    • HCS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.0
  • OMIM: 606407
  • UMLS: C1848030
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

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