Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 18-05-2016 |
Symbol | AUTSX6 |
Location | Xq28 |
Name | autism spectrum disorder, X-linked 6 |
Corresponding gene | TMLHE |
Main clinical features |
|
Genetic determination | sex linked |
Function/system disorder | neurology |
Type | disease |
Remark(s) |
. deletion of exon 2 had low or undetectable TMLHE enzyme activity, and heterozygous mothers had reduced activity compared with healthy males (PMID: 22566635))
|