H00902 | |
H number | H00902 |
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 |
Network | - |
Gene | FOXP2 [HSA:93986] [KO:K09409] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 6A01 ICD-10: F80.9 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 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 |