intellectual disability
We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features.
We show that haploinsufficiency of <span class="gene" id="22544363-1-35-41">KANSL1</span> is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by <span class="disease" id="22544363-1-142-165">intellectual disability</span>, hypotonia and distinctive facial features.