Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49


rs1300458163 in TRIP12 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 PMID 27848077 2017 Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

PMID 28251352 2017 Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.