Orphanet: Renpenning syndrome

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Renpenning syndrome

Disease definition

Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.


Classification level: Disorder
  • Synonym(s):
    • X-linked intellectual disability due to PQBP1 mutations
    • X-linked intellectual disability, Renpenning type
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.5
  • OMIM: 309500
  • UMLS: -
  • MeSH: -
  • GARD: 9509
  • MedDRA: -

Detailed information


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