Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Birk-Barel syndrome


Other Names for this Disease

  • Birk Barel mental retardation dysmorphism syndrome
  • Mental retardation with hypotonia and facial dysmorphism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Birk-Barel syndrome is an inherited condition characterized by 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).[1][2]
Last updated: 10/15/2014

References

  1. Birk-Barel Mental Retardation Dysmorphism Syndrome. Online Mendelian Inheritance in Man (OMIM). September 19, 2008; http://omim.org/entry/612292. Accessed 10/15/2014.
  2. 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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Birk-Barel syndrome. We will answer your question and update these pages with new resources and information.
On this page

In Depth Information

  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Birk-Barel syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Birk Barel mental retardation dysmorphism syndrome
  • Mental retardation with hypotonia and facial dysmorphism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.