Condition: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
rs1468772495
in
C12orf4
gene and
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
PMID 28097321
2017 Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
PMID 25558065
2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PMID 27311568
2017 Identification of C12orf4 as a gene for autosomal recessive intellectual disability.