Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47


rs1553722309 in STAG1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 PMID 28119487 2017 STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

PMID 30158690 2019 Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.