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Renpenning syndrome 1
Other Names for this Disease
- Mental retardation, X-linked Renpenning type
- Mental retardation, X-linked, syndromic 8
X-linked mental retardation condition which most often presents in males. It is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit. Renpenning syndrome is caused by mutations in the polyglutamine tract binding protein 1 gene (PQBP1). Treatment is symptomatic and supportive. In 2005, it was proposed that the various X-linked mental retardation syndromes with PQBP1 mutations be combined under the name of Renpenning syndrome.Renpenning syndrome is an inherited
Last updated: 8/20/2009
- Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Am J Med Genet A. 2005; http://www.ncbi.nlm.nih.gov/pubmed/15782410. Accessed 8/19/2009.
- Renpenning syndrome. Orphanet. 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3242. Accessed 8/19/2009.
- Renpenning Syndrome 1. Online Mendelian Inheritance in Man (OMIM). 2008; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309500. Accessed 8/19/2009.
- Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. Am J Hum Genet. 2004; http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=15024694. Accessed 8/19/2009.
- Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE. Am J Hum Genet. 1998; http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=9545405. Accessed 8/19/2009.
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In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an 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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