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Hyperphosphatasia-intellectual disability syndrome


  • Synonym(s):
    • Mabry syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 239300  614207  614749  615716  616025  616809
  • UMLS: C1855923
  • MeSH: -
  • GARD: -
  • MedDRA: -

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