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Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

ORPHA:508533

  • Synonym(s):
    • EXTL3-related neuro-immuno-skeletal dysplasia syndrome
    • Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: -
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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