Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57


rs1283838287 in TLK2 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 PMID 29861108 2018 De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.