Other Names for this Disease
- Birk Barel mental retardation dysmorphism syndrome
- Intellectual disability - hypotonia - facial dysmorphism
- Intellectual disability, Birk-Barel type
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intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).Birk-Barel syndrome is an inherited condition characterized by
Last updated: 10/15/2014
- Birk-Barel Mental Retardation Dysmorphism Syndrome. Online Mendelian Inheritance in Man (OMIM). September 19, 2008; http://omim.org/entry/612292. Accessed 10/15/2014.
- Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, Mazor G, Finer G, Khateeb S, Zilberberg N, Birk OS. Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Am J Hum Genet. Aug 8, 2008; 83(2):193-199. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2495061/. Accessed 10/15/2014.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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