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- Q4646476 subject Q8280463.
- Q4646476 abstract "9q34 deletion syndrome, also known as Kleefstra syndrome, is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip. Individuals with this disease may often have speech impediments, such as speech delays. Other characteristics of this disease include: epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. From analysis of chromosomal breakpoints, as well as gene sequencing in suggestive cases, Kleefstra and colleagues identified EHMT1 as the causative gene. This gene is responsible for producing the protein Histone methyltransferase which functions to alter histones. Ultimately, histone methyltransferases are important in deactivating certain genes, needed for proper growth and development. Moreover, a frameshift, missense, or nonsense error in the coding sequence of EHMT1 can result in this condition in an individual.".
- Q4646476 icd10 "Q93.5".
- Q4646476 omim "610253".
- Q4646476 wikiPageExternalLink kleefstra-syndrome.
- Q4646476 wikiPageExternalLink www.kleefstrasyndrome.org.
- Q4646476 wikiPageExternalLink Kleefstra%20Syndrome%20FTNW.pdf.
- Q4646476 wikiPageWikiLink Q1142806.
- Q4646476 wikiPageWikiLink Q1336182.
- Q4646476 wikiPageWikiLink Q14640281.
- Q4646476 wikiPageWikiLink Q1568160.
- Q4646476 wikiPageWikiLink Q1753547.
- Q4646476 wikiPageWikiLink Q200779.
- Q4646476 wikiPageWikiLink Q2560317.
- Q4646476 wikiPageWikiLink Q268292.
- Q4646476 wikiPageWikiLink Q37748.
- Q4646476 wikiPageWikiLink Q41571.
- Q4646476 wikiPageWikiLink Q431643.
- Q4646476 wikiPageWikiLink Q4744249.
- Q4646476 wikiPageWikiLink Q602889.
- Q4646476 wikiPageWikiLink Q656638.
- Q4646476 wikiPageWikiLink Q755077.
- Q4646476 wikiPageWikiLink Q7715963.
- Q4646476 wikiPageWikiLink Q8280463.
- Q4646476 icd "Q93.5".
- Q4646476 omim "610253".
- Q4646476 type Disease.
- Q4646476 type Thing.
- Q4646476 type Q12136.
- Q4646476 comment "9q34 deletion syndrome, also known as Kleefstra syndrome, is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip. Individuals with this disease may often have speech impediments, such as speech delays.".
- Q4646476 label "9q34 deletion syndrome".