postaxial acrofacial dysostosis (Miller syndrome)

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Epidemiology

  • very rare disorder
  • ~ 30 reported cases

Genetics

  • associated with defects in DHODH

Clinical manifestations

Notes

More general terms

References

  1. OMIM https://mirror.omim.org/entry/263750
  2. 2.0 2.1 Ng SB et al Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5. Epub 2009 Nov 13 PMID: https://www.ncbi.nlm.nih.gov/pubmed/19915526

Database