Condition: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
rs782001959
in
TMLHE;TMLHE-AS1
gene and
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
PMID 23092983
2012 Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
PMID 21865298
2011 Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
PMID 25943046
2015 Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.