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Primary immunodeficiency syndrome due to p14 deficiency

Disease definition

Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.

ORPHA:90023

  • Synonym(s):
    • Primary immunodeficiency syndrome with short stature
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D82.8
  • OMIM: 610798
  • UMLS: C1835829
  • MeSH: -
  • GARD: -
  • MedDRA: -

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