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Blepharophimosis-intellectual disability syndrome, MKB type

ORPHA:293707

  • Synonym(s):
    • BMRS, MKB type
    • BMRS, Maat-Kievit-Brunner type
    • Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
    • X-linked Ohdo syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 300895
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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