MeSH Browser

MeSH Supplementary: Kleefstra Syndrome
Unique ID: C563043
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C563043
Entry Term(s): 9q Subtelomeric Deletion Syndrome; 9q- Syndrome; 9q34.3 Deletion Syndrome; 9q34.3 Microdeletion Syndrome; Chromosome 9q34.3 Deletion Syndrome
Heading Mapped to: *Chromosome Deletion; Chromosomes, Human, Pair 9; *Heart Defects, Congenital; *Intellectual Disability; *Craniofacial Abnormalities
Frequency: 58
Note: Submicroscopic and subtelomeric deletions of the q region of chromosome 9 that result in severe intellectual disability, epilepsy, heart defects, BRACHYCEPHALY or MICROCEPHALY; MACROGLOSSIA and other craniofacial abnormalities. The symptoms are caused by deletion or mutation of the EHMT1 gene. OMIM: 610253
Date of Entry: 2012/11/05
Revision Date: 2016/09/29

Concept UI: M0563343
Terms: Kleefstra Syndrome Preferred Term
Term UI T802077
Date11/15/2011
LexicalTag NON
ThesaurusID; Chromosome 9q34.3 Deletion Syndrome
Term UI T802078
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); 9q Subtelomeric Deletion Syndrome
Term UI T802079
Date11/15/2011
LexicalTag NON
ThesaurusID; 9q- Syndrome
Term UI T802080
Date11/15/2011
LexicalTag NON
ThesaurusID; 9q34.3 Deletion Syndrome
Term UI T841824
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); 9q34.3 Microdeletion Syndrome
Term UI T841825
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Kleefstra Syndrome MeSH Supplementary Concept Data 2024