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- 9q34_deletion_syndrome 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.".
- 9q34_deletion_syndrome diseasesdb "32302".
- 9q34_deletion_syndrome icd10 "Q93.5".
- 9q34_deletion_syndrome omim "610253".
- 9q34_deletion_syndrome wikiPageExternalLink kleefstra-syndrome.
- 9q34_deletion_syndrome wikiPageExternalLink www.kleefstrasyndrome.org.
- 9q34_deletion_syndrome wikiPageExternalLink Kleefstra%20Syndrome%20FTNW.pdf.
- 9q34_deletion_syndrome wikiPageID "31873736".
- 9q34_deletion_syndrome wikiPageRevisionID "567913988".
- 9q34_deletion_syndrome diseasesdb "32302".
- 9q34_deletion_syndrome hasPhotoCollection 9q34_deletion_syndrome.
- 9q34_deletion_syndrome icd "Q93.5".
- 9q34_deletion_syndrome omim "610253".
- 9q34_deletion_syndrome subject Category:Autosomal_monosomies_and_deletions.
- 9q34_deletion_syndrome type Disease.
- 9q34_deletion_syndrome type Situation.
- 9q34_deletion_syndrome 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.".
- 9q34_deletion_syndrome label "9q34 deletion syndrome".
- 9q34_deletion_syndrome label "Sindrome de Kleefstra".
- 9q34_deletion_syndrome sameAs Sindrome_de_Kleefstra.
- 9q34_deletion_syndrome sameAs m.0gvth8b.
- 9q34_deletion_syndrome sameAs Q4646476.
- 9q34_deletion_syndrome sameAs Q4646476.
- 9q34_deletion_syndrome wasDerivedFrom 9q34_deletion_syndrome?oldid=567913988.
- 9q34_deletion_syndrome isPrimaryTopicOf 9q34_deletion_syndrome.