Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
rs398123009
in
PACS1
gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
PMID 23159249
2012 Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
PMID 26795593
2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.