ESPE Abstracts

Introduction: The ZSWIM6 gene was first described with a unique de-novo heterozygous variant causing acromelic frontonasal dysostosis, characterized by craniofacial, brain, and limb malformations. Another de-novo heterozygous variant was later described causing severe intellectual disability, hypotonia amd seizures but without craniofacial or limb malformations. These findings suggest a clear genotype-phenotype correlation for ZSWIM6. Gene in...