Ontology highlight
ABSTRACT:
SUBMITTER: Chen Y
PROVIDER: S-EPMC7344189 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Frontiers in pediatrics 20200630
<i>De novo DDX3X</i> variants account for 1%-3% of intellectual disability (ID) in females and have been occasionally reported in males. Here, we report a female patient with severe ID and various other features, including epilepsy, movement disorders, behavior problems, sleep disturbance, precocious puberty, dysmorphic features, and hippocampus atrophy. With the use of family-based exome sequencing, we identified a <i>de novo</i> pathogenic variant (c.1745dupG/p.S583<sup>*</sup>) in the <i>DDX3 ...[more]