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.