A Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review.

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 pathogenic variant (c.1745dupG/p.S583) in the gene. However, our patient did not present hypotonia, which is considered a frequent clinical manifestation associated with variants. While hand stereotypies and sleep disturbance have been occasionally associated with the spectrum, hippocampus atrophy has not been reported in patients with -related ID. The investigation further expands the phenotype spectrum for variants with syndromic intellectual disability, which might help to improve the understanding of -related intellectual disability or developmental delay.