5q14.3 microdeletion syndrome
Other Names for this Disease
- 5q14.3 deletion syndrome
- Chromosome 5q14.3 deletion syndrome
- Mental retardation, autosomal dominant 20
- Monosomy 5q14.3
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intellectual disability, absent speech, stereotypic movements and epilepsy. Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large open mouth, upslanted palpebral fissures (outside corners of the eyes that point downward), and prominent eyebrows. The condition is caused by mutations affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5.5q14.3 microdeletion syndrome is characterized by severe
Last updated: 7/17/2014
- 5q14.3 microdeletion syndrome. Orphanet. May 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228384. Accessed 7/17/2014.
- MEF2C. Genetics Home Reference (GHR). July 14, 2014; http://ghr.nlm.nih.gov/gene/MEF2C. Accessed 7/17/2014.
- Mental retardation, autosomal dominant 20. Online Mendelian Inheritance in Man (OMIM). April 1, 2014; http://omim.org/entry/613443. Accessed 7/17/2014.
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- Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. This website is maintained by the National Library of Medicine.
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 5q14.3 microdeletion syndrome .
- 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 5q14.3 microdeletion syndrome . Click on the link to view a sample search on this topic.