KEGG   DISEASE: Speech-language disorder 1
Entry
H00902                      Disease                                
Name
Speech-language disorder 1
Description
Speech-language disorder-1 is an autosomal dominant disorder caused by mutations of the FOXP2 transcription factor gene. It has been reported that mutations of the FOXP2 cause a monogenic syndrome characterized by impaired speech development and linguistic deficits.
Category
Mental and behavioural disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A01  Developmental speech or language disorders
    H00902  Speech-language disorder 1
Gene
FOXP2 [HSA:93986] [KO:K09409]
Other DBs
ICD-11: 6A01
MeSH: D001072
OMIM: 602081
Reference
PMID:19304338
  Authors
Fisher SE, Scharff C
  Title
FOXP2 as a molecular window into speech and language.
  Journal
Trends Genet 25:166-77 (2009)
DOI:10.1016/j.tig.2009.03.002
Reference
PMID:17196932
  Authors
Mizutani A, Matsuzaki A, Momoi MY, Fujita E, Tanabe Y, Momoi T
  Title
Intracellular distribution of a speech/language disorder associated FOXP2 mutant.
  Journal
Biochem Biophys Res Commun 353:869-74 (2007)
DOI:10.1016/j.bbrc.2006.12.130
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