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Orofaciodigital syndrome type 1

Disease definition

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

ORPHA:2750

  • Synonym(s):
    • OFD1
    • OFDI
    • OFDSI
    • Oral-facial-digital syndrome type 1
    • Papillon-Léage-Psaume syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 311200
  • UMLS: C1510460  C2931426
  • MeSH: -
  • GARD: 4121
  • MedDRA: -

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