Searching for Renpenning Syndrome Support information? Find all needed info by using official links provided below.
https://ghr.nlm.nih.gov/condition/renpenning-syndrome
Oct 29, 2019 · Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly).
https://rarediseases.info.nih.gov/diseases/9509/renpenning-syndrome-1
83 rows · Feb 03, 2016 · Renpenning syndrome is a genetic condition which occurs mostly in males. …
https://rarediseases.info.nih.gov/diseases/9509/renpenning-syndrome-1/cases/24453
Feb 03, 2016 · 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 …
https://www.omim.org/entry/309500
Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum.
https://www.ncbi.nlm.nih.gov/medgen/208670
Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella.
https://diseaseinfosearch.org/Renpenning+syndrome+1/6224/support
Genetic Alliance Australia (GA-AU) is an umbrella group, facilitating support for those affected directly or indirectly by rare diseases (80% of which are genetic in origin) throughout Australasia. We offer peer support, education and information through our seminars, annual information ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377092/
The syndrome maps to Xp11.2-p11.4, with a maximum LOD score of 3.21 (recombination fraction 0) for markers between DXS1039 and DXS1068. Renpenning syndrome (also known as "MRXS8"; gene RENS1, MIM 309500) shares phenotypic manifestations with several other XLMR syndromes, notably the Sutherland-Haan syndrome.
https://ghr.nlm.nih.gov/gene/PQBP1
Oct 29, 2019 · At least 14 PQBP1 gene mutations have been identified in people with Renpenning syndrome, a disorder that occurs almost exclusively in males and causes intellectual disability and characteristic physical features. Most of the PQBP1 gene mutations that cause Renpenning syndrome result in an abnormally short polyglutamine-binding protein 1. The function of a shortened or otherwise …
https://rarediseases.org/rare-diseases/fragile-x-syndrome/
The syndrome has been mapped to gene map locus Xp11.2-p11.4 and the term “Renpenning syndrome” should be limited to the condition that maps to this region. The prevalence is unknown. Developmental delay is present in Renpenning syndrome early with males learning to walk at age 2 – 3 years and able to say simple words at age 3 – 4 years.
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