Renpenning syndrome 1
Other Names for this Disease
- Mental retardation, X-linked Renpenning type
- Sutherland-Haan X-linked mental retardation syndrome
- X-linked mental retardation with spastic diplegia
- X-linked mental retardation syndromic 3
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 Renpenning syndrome is caused by mutations in the PQBP1 gene and is inherited in an X-linked recessive manner.  Management involves early intervention by trained therapists along with treatment of any associated features. Renpenning syndrome is a genetic condition which occurs mostly in males. Signs and symptoms include the following: developmental delay, a small head (microcephaly), short stature, and distinctive facial features. Approximately two-thirds of individuals with Renpenning syndrome have moderate to severe intellectual disability. Additional features may include heart defects, muscular atrophy, cleft palate, and eye abnormalities.
Last updated: 2/3/2016
- Renpenning syndrome. Genetics Home Reference. June, 2012; http://ghr.nlm.nih.gov/condition/renpenning-syndrome. Accessed 2/3/2016.
- Renpenning syndrome. Orphanet. June, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=3242. Accessed 2/3/2016.
- RENPENNING SYNDROME 1; RENS1. Online Mendelian Inheritance in Man (OMIM). January, 2012; http://omim.org/entry/309500. Accessed 2/3/2016.
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- Genetics Home Reference (GHR) contains information on Renpenning syndrome 1. This website is maintained by the National Library of Medicine.
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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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- PubMed is a searchable database of medical literature and lists journal articles that discuss Renpenning syndrome 1. Click on the link to view a sample search on this topic.