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Xu, R. Ohdo Syndrome, Maat-Kievit-Brunner Type. Encyclopedia. Available online: https://encyclopedia.pub/entry/4729 (accessed on 26 September 2026).
Xu R. Ohdo Syndrome, Maat-Kievit-Brunner Type. Encyclopedia. Available at: https://encyclopedia.pub/entry/4729. Accessed September 26, 2026.
Xu, Rita. "Ohdo Syndrome, Maat-Kievit-Brunner Type" Encyclopedia, https://encyclopedia.pub/entry/4729 (accessed September 26, 2026).
Xu, R. (2020, December 24). Ohdo Syndrome, Maat-Kievit-Brunner Type. In Encyclopedia. https://encyclopedia.pub/entry/4729
Xu, Rita. "Ohdo Syndrome, Maat-Kievit-Brunner Type." Encyclopedia. Web. 24 December, 2020.
Ohdo Syndrome, Maat-Kievit-Brunner Type
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ohdo-syndrome-maat-kievit-brunner-type

The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.

genetic conditions

References

  1. Maat-Kievit A, Brunner HG, Maaswinkel-Mooij P. Two additional cases of theOhdo blepharophimosis syndrome. Am J Med Genet. 1993 Nov 1;47(6):901-6. Review.
  2. Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, StevensR, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P.Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinicalclassification of the so-called Ohdo syndrome, and delineation of two new BMRsyndromes, one X-linked and one autosomal recessive. Am J Med Genet A. 2006 Jun15;140(12):1285-96.
  3. Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A,Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ,Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, BoyerTG, de Brouwer AP. Mutations in MED12 cause X-linked Ohdo syndrome. Am J HumGenet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 945
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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