A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12

Congenit Anom (Kyoto). 2020 May;60(3):91-93. doi: 10.1111/cga.12350. Epub 2019 Jul 29.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / etiology*
  • Abnormalities, Multiple / pathology
  • Blepharophimosis / etiology*
  • Blepharophimosis / pathology
  • Blepharoptosis / etiology*
  • Blepharoptosis / pathology
  • Child, Preschool
  • Chromosomes, Human, X / genetics*
  • Female
  • Genetic Diseases, X-Linked / etiology*
  • Genetic Diseases, X-Linked / pathology
  • Heart Defects, Congenital / etiology*
  • Heart Defects, Congenital / pathology
  • Humans
  • Intellectual Disability / etiology*
  • Intellectual Disability / pathology
  • Mediator Complex / genetics*
  • Mutation*
  • Prognosis

Substances

  • MED12 protein, human
  • Mediator Complex

Supplementary concepts

  • Blepharophimosis syndrome Ohdo type