In two consanguineous families with five affected individuals from Turkey with a GAMOS-like presentation, we identified a shared homozygous variant leading to partial exon 4 skipping in &lt;i&gt;nucleoporin, 107-KD&lt;/i&gt; (&lt;i&gt;NUP107&lt;/i&gt;).
C0795949
Galloway Mowat syndrome