Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Profound Mental Retardation
CUI: C0020796
Disease: Profound Mental Retardation
0.010 GeneticVariation BEFREE To date, only one pathogenic variant of RNF113A, namely c.901C>T; p.Gln301Ter, has been reported in humans by Tarpey et al. in 2009.Thereafter, Corbett et al. stated that this variant was responsible for an X-linked form of nonphotosensitive trichothiodystrophy associated with profound intellectual disability, microcephaly, partial corpus callosum agenesis, microphallus, and absent or rudimentary testes. 31793730 2020