Ontology highlight
ABSTRACT:
SUBMITTER: Wang X
PROVIDER: S-EPMC6186933 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Annals of clinical and translational neurology 20180915 10
De <i>novo</i> variants in <i>DDX3X</i> account for 1-3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty-seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique <i>DDX3X</i> variants, including 30 postnatal individuals with complex clinical presentations of developmental delay or ID, and one fetus with abnormal ultrasound findings. Rare or novel phenotypes obse ...[more]