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                <title level="j">American Journal of Medical Genetics Part A</title>
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                <term xml:lang="en">SMG9</term>
                <term xml:lang="en">heart and brain malformation</term>
                <term xml:lang="en">nonsense mediated decay</term>
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              <p>SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating SMG9 variants in a context of severe syndromic developmental disorder. To our knowledge, no additional patient has been described since this first report.</p>
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