Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
rs373584239
in
CIC
gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
PMID 21076407
2010 A de novo paradigm for mental retardation.
PMID 28288114
2017 Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.