Here , we report on two hemizygous mutations in OGT in individuals with X-linked intellectual disability ( XLID ) and dysmorphic features : one missense mutation ( p.Arg284Pro ) and one mutation leading to a splicing defect ( c.463-6T > G ) .
O O O O O O O O O B-GeneOrGeneProduct O O O B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O B-DiseaseOrPhenotypicFeature O O O O O O O O O B-SequenceVariant O O O O O O O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant O O