Demographic characteristics of “final gene-positive” cases.

<p>Demographic characteristics of “final gene-positive” cases.</p

Distribution of pathogenic variants and variants of uncertain significance.

<p>Distribution of pathogenic variants and variants of uncertain significance.</p

Distribution of pathogenic variants and variants of uncertain significance per age group.

<p>Distribution of pathogenic variants and variants of uncertain significance per age group.</p

Demographic characteristics of “final gene-positive” cases.

<p>Demographic characteristics of “final gene-positive” cases.</p

Description of genetic variants and evidence of pathogenicity.

<p>Description of genetic variants and evidence of pathogenicity.</p

Demographic characteristics, description of events, medical and family history of gene-positive cases.

<p>Demographic characteristics, description of events, medical and family history of gene-positive cases.</p