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Orofaciodigital syndrome type 2

Disease definition

Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

ORPHA:2751

  • Synonym(s):
    • Mohr syndrome
    • OFD2
    • Oral-facial-digital syndrome type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 252100
  • UMLS: C0026363  C2931889
  • MeSH: C538585
  • GARD: 3701
  • MedDRA: -

Detailed information

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Additional information

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