Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35


rs863225079 in PPP2R5D;MEA1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 PMID 26168268 2015 B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 25972378 2015 Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.