. . . . . . . "[All affected male individuals share the typical clinical phenotype, all carrier females are unaffected and presented with a completely skewed X inactivation in blood.We conclude that 1.) X-linked intellectual disability type Nascimento is a clinically very distinct entity that might be underdiagnosed to date.2.) So far, all females carrying a familial UBE2A aberration have a completely skewed X inactivation and are clinically unaffected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:17:08+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .