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Atypical hypotonia-cystinuria syndrome

Disease definition

A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).


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