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<title>
Entry
- #170390 - ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
- OMIM
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<span class="h4">#170390</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/170390"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS192500"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#otherFeatures">Other Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10442&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/431" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/f0867c81-50c7-48a5-bccd-06393f5a45c7/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0050434" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/170390" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0050434" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 422348008<br />
<strong>ORPHA:</strong> 37553<br />
<strong>DO:</strong> 0050434<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
170390
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
ANDERSEN SYNDROME<br />
LONG QT SYNDROME 7; LQT7<br />
ANDERSEN-TAWIL SYNDROME; ATS<br />
PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/893?start=-3&limit=10&highlight=893">
17q24.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Andersen syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170390"> 170390 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
KCNJ2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600681"> 600681 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/170390" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS192500" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/170390" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/170390" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Stature (<10th percentile) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969400&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969400</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271603002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271603002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1153637007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1153637007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50373000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50373000</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small head circumference (lower end of normal) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969401&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969401</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271611007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271611007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span><br /> -
Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Broad forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000337</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=40e77945a1b2a5742a89317aeb604f00" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Forehead,Broad-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=40e77945a1b2a5742a89317aeb604f00&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Malar hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858085</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000272</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=679675da378a2ab79998b5e87cd5918a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Malar_Flattening-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=679675da378a2ab79998b5e87cd5918a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Maxillary hypoplasia <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span><br /> -
Triangular face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9b3a4310d8279245cf752e39c5608ddf" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Triangular-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9b3a4310d8279245cf752e39c5608ddf&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Mild facial asymmetry <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969402&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969402</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13851000119109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13851000119109</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15253005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15253005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Preauricular pits <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1955003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1955003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266610</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004467</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004467</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Short palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246802000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246802000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423112&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423112</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012745</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012745</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bulbous nasal tip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855751</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nose,Bulbous-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thin upper lip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865017</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000219" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000219</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000219" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000219</a>]</span><br /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Persistent primary teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57650002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57650002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1172951004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1172951004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266050&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266050</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006335" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006335</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006335" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006335</a>]</span><br /> -
Delayed eruption of secondary teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849540</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000696" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000696</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000696" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000696</a>]</span><br /> -
Oligodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/787414001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">787414001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4082304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082304</a>, <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span><br /> -
Elongated roots with open apices <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969403</a>]</span><br /> -
Enamel hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26597004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26597004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011351</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span><br /> -
Anterior crossbite <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27002002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27002002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266058&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266058</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Palpitations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80313002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80313002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030252</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span><br /> -
Prominent U wave <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969408&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969408</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025072</a>]</span><br /> -
Prolonged QTc <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969409</a>]</span><br /> -
Bidirectional ventricular ectopy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969410</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005147</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005147</a>]</span><br /> -
Syncope <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/272030005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">272030005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271594007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271594007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309585006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309585006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R55" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R55</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3541349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3541349</a>, <a href="https://bioportal.bioontology.org/search?q=C0039070&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039070</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007185</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Gracile ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969399</a>]</span><br /> -
Scapular winging <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240953</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Joint laxity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298203008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298203008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a>, <a href="https://bioportal.bioontology.org/search?q=C0086437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br /> -
Delayed bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123983008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123983008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Prominent frontal sinuses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969404</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005478" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005478</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005478" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005478</a>]</span><br /> -
Short mandibular rami <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1841648&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1841648</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003778</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003778</a>]</span><br /> -
Condylar resorption <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969405</a>]</span><br /> -
Copper beaten skull <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969406&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969406</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034271" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034271</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034271" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034271</a>]</span><br /> -
Small maxilla <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span><br /> -
Small mandible <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span><br /> -
Antegonial notching of mandible <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844509&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844509</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003779" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003779</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003779" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003779</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Gracile long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833144</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003100</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small hands <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299032009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299032009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200055</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200055</a>]</span><br /> -
Fifth finger clinodactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850049&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850049</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span><br /> -
Syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Short phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0877165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0877165</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009803</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009803</a>]</span><br /> -
Short metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837084</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span><br /> -
Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299461003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299461003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848673</a>, <a href="https://bioportal.bioontology.org/search?q=C0576224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001773</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001773</a>]</span><br /> -
Syndactyly (2-3) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862148&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862148</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Fifth toe clinodactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861397</a>]</span><br /> -
Short metatarsals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849020&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849020</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010743</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Periodic paralysis, usually hypokalemic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674652&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674652</a>]</span><br /> -
Episodes of weakness can last 1 day to several weeks and can occur 1-3 times per month <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674653&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674653</a>]</span><br /> -
White matter lesions (1 patient) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2752009&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2752009</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Learning disabilities, mild (some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227946</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1855002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1855002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F81.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F81.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001328" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001328</a>]</span><br /> -
Depression (1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypokalemia during periodic paralysis (most patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674655</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis<br /> -
Onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years<br /> -
Periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the potassium channel, inwardly rectifying, subfamily J, member 2 gene (KCNJ2, <a href="/entry/600681#0001">600681.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Long QT syndrome
- <a href="/phenotypicSeries/PS192500">PS192500</a>
- 21 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/236?start=-3&limit=10&highlight=236"> 2p21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616249"> Long QT syndrome 15 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616249"> 616249 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114182"> CALM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114182"> 114182 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/27?start=-3&limit=10&highlight=27"> 3p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611818"> Long QT syndrome 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611818"> 611818 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601253"> CAV3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601253"> 601253 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/181?start=-3&limit=10&highlight=181"> 3p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603830"> Long QT syndrome 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603830"> 603830 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600163"> SCN5A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600163"> 600163 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/502?start=-3&limit=10&highlight=502"> 4q25-q26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600919"> Long QT syndrome 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600919"> 600919 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/106410"> ANK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/106410"> 106410 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/502?start=-3&limit=10&highlight=502"> 4q25-q26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600919"> Cardiac arrhythmia, ankyrin-B-related </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600919"> 600919 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/106410"> ANK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/106410"> 106410 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/404?start=-3&limit=10&highlight=404"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611820"> ?Long QT syndrome 11 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611820"> 611820 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604001"> AKAP9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604001"> 604001 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/821?start=-3&limit=10&highlight=821"> 7q36.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613688"> Long QT syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613688"> 613688 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/152427"> KCNH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/152427"> 152427 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/82?start=-3&limit=10&highlight=82"> 11p15.5-p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192500"> {Long QT syndrome 1, acquired, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192500"> 192500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> KCNQ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> 607542 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/82?start=-3&limit=10&highlight=82"> 11p15.5-p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192500"> Long QT syndrome 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192500"> 192500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> KCNQ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> 607542 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/976?start=-3&limit=10&highlight=976"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611819"> Long QT syndrome 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611819"> 611819 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608256"> SCN4B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608256"> 608256 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/976?start=-3&limit=10&highlight=976"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611819"> Atrial fibrillation, familial, 17 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611819"> 611819 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608256"> SCN4B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608256"> 608256 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1085?start=-3&limit=10&highlight=1085"> 11q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613485"> Long QT syndrome 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613485"> 613485 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600734"> KCNJ5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600734"> 600734 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/18?start=-3&limit=10&highlight=18"> 12p13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618447"> Long QT syndrome 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618447"> 618447 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114205"> CACNA1C </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114205"> 114205 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/285?start=-3&limit=10&highlight=285"> 12q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613688"> {Long QT syndrome, acquired, reduced susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613688"> 613688 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603313"> ALG10B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603313"> 603313 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/455?start=-3&limit=10&highlight=455"> 14q32.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616247"> Long QT syndrome 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616247"> 616247 </a>
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<span class="mim-font">
<a href="/entry/114180"> CALM1 </a>
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<span class="mim-font">
<a href="/entry/114180"> 114180 </a>
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<a href="/geneMap/17/893?start=-3&limit=10&highlight=893"> 17q24.3 </a>
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<a href="/entry/170390"> Andersen syndrome </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/170390"> 170390 </a>
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<a href="/entry/600681"> KCNJ2 </a>
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<a href="/entry/600681"> 600681 </a>
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<a href="/geneMap/19/854?start=-3&limit=10&highlight=854"> 19q13.32 </a>
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<span class="mim-font">
<a href="/entry/618782"> ?Ventricular tachycardia, catecholaminergic polymorphic 6 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/618782"> 618782 </a>
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<span class="mim-font">
<a href="/entry/114183"> CALM3 </a>
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<span class="mim-font">
<a href="/entry/114183"> 114183 </a>
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<a href="/geneMap/19/854?start=-3&limit=10&highlight=854"> 19q13.32 </a>
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<span class="mim-font">
<a href="/entry/618782"> Long QT syndrome 16 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/618782"> 618782 </a>
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<span class="mim-font">
<a href="/entry/114183"> CALM3 </a>
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<span class="mim-font">
<a href="/entry/114183"> 114183 </a>
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<a href="/geneMap/20/213?start=-3&limit=10&highlight=213"> 20q11.21 </a>
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<span class="mim-font">
<a href="/entry/612955"> Long QT syndrome 12 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/612955"> 612955 </a>
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<a href="/entry/601017"> SNTA1 </a>
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<span class="mim-font">
<a href="/entry/601017"> 601017 </a>
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<span class="mim-font">
<a href="/geneMap/21/79?start=-3&limit=10&highlight=79"> 21q22.11 </a>
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<span class="mim-font">
<a href="/entry/613693"> Long QT syndrome 6 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/613693"> 613693 </a>
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<span class="mim-font">
<a href="/entry/603796"> KCNE2 </a>
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<span class="mim-font">
<a href="/entry/603796"> 603796 </a>
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<span class="mim-font">
<a href="/geneMap/21/80?start=-3&limit=10&highlight=80"> 21q22.12 </a>
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<span class="mim-font">
<a href="/entry/613695"> Long QT syndrome 5 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/613695"> 613695 </a>
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<span class="mim-font">
<a href="/entry/176261"> KCNE1 </a>
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<span class="mim-font">
<a href="/entry/176261"> 176261 </a>
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<p>A number sign (#) is used with this entry because Andersen cardiodysrhythmic periodic paralysis, also known as Andersen syndrome or Andersen-Tawil syndrome, is caused by heterozygous mutation in the KCNJ2 gene (<a href="/entry/600681">600681</a>) on chromosome 17q24.</p>
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<p>Andersen cardiodysrhythmic periodic paralysis, also known as Andersen syndrome or Andersen-Tawil syndrome, is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by <a href="#7" class="mim-tip-reference" title="Davies, N. P., Imbrici, P., Fialho, D., Herd, C., Bilsland, L. G., Weber, A., Mueller, R., Hilton-Jones, D., Ealing, J., Boothman, B. R., Giunti, P., Parsons, L. M., Thomas, M., Manzur, A. Y., Jurkat-Rott, K., Lehmann-Horn, F., Chinnery, P. F., Rose, M., Kullmann, D. M., Hanna, M. G. &lt;strong&gt;Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.&lt;/strong&gt; Neurology 65: 1083-1089, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16217063/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16217063&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000178888.03767.74&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16217063">Davies et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16217063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>This Andersen syndrome is not to be confused with Andersen disease, type IV glycogen storage disease (GSD4; <a href="/entry/232500">232500</a>).</p>
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<p><a href="#17" class="mim-tip-reference" title="Tawil, R., Ptacek, L. J., Pavlakis, S. G., DeVivo, D. C., Penn, A. S., Ozdemir, C., Griggs, R. C. &lt;strong&gt;Andersen&#x27;s syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.&lt;/strong&gt; Ann. Neurol. 35: 326-330, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8080508/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8080508&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410350313&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8080508">Tawil et al. (1994)</a> used the designation Andersen syndrome for a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. They found reports of 10 patients and added 4 new patients in 3 kindreds. All the patients had potassium-sensitive periodic paralysis without myotonia indistinguishable from other forms of hyperkalemic periodic paralysis (see <a href="/entry/170500">170500</a>). In 1 family, a 45-year-old mother and her 22-year-old son were affected. The son had short stature, low-set ears, hypoplastic mandible, clinodactyly, and scoliosis. The mother was said to have the same dysmorphic features. <a href="#17" class="mim-tip-reference" title="Tawil, R., Ptacek, L. J., Pavlakis, S. G., DeVivo, D. C., Penn, A. S., Ozdemir, C., Griggs, R. C. &lt;strong&gt;Andersen&#x27;s syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.&lt;/strong&gt; Ann. Neurol. 35: 326-330, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8080508/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8080508&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410350313&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8080508">Tawil et al. (1994)</a> emphasized the variability of both the dysmorphic features and the cardiac manifestations. A variable prolongation of the QT interval, ventricular bigeminy, and short runs of bidirectional ventricular tachycardia were observed. Sudden death in this syndrome was reported by <a href="#11" class="mim-tip-reference" title="Levitt, L. P., Rose, L. I., Dawson, D. M. &lt;strong&gt;Hypokalemic periodic paralysis with arrhythmia.&lt;/strong&gt; New Eng. J. Med. 286: 253-254, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5007210/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5007210&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM197202032860507&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5007210">Levitt et al. (1972)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5007210+8080508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Andersen, E. D., Krasilnikoff, P. A., Overvad, H. &lt;strong&gt;Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies: a new syndrome?&lt;/strong&gt; Acta Paediat. Scand. 60: 559-564, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4106724/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4106724&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1971.tb06990.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4106724">Andersen et al. (1971)</a> reported the case of an 8-year-old boy who was short of stature and had hypertelorism, broad nasal root, mandibular hypoplasia, scaphocephaly, and clinodactyly V, as well as a defect of the soft and hard palate. <a href="#16" class="mim-tip-reference" title="Stubbs, W. A. &lt;strong&gt;Bidirectional ventricular tachycardia in familial hypokalaemic periodic paralysis.&lt;/strong&gt; Proc. Roy. Soc. Med. 69: 223-224, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1265019/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1265019&lt;/a&gt;]" pmid="1265019">Stubbs (1976)</a> described a 31-year-old housewife with bidirectional ventricular tachycardia whose mother died of 'heart failure' at age 37. <a href="#10" class="mim-tip-reference" title="Kramer, L. D., Cole, J. P., Messenger, J. C., Ellestad, M. H. &lt;strong&gt;Cardiac dysfunction in a patient with familial hypokalemic periodic paralysis.&lt;/strong&gt; Chest 75: 189-192, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/421555/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;421555&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1378/chest.75.2.189&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="421555">Kramer et al. (1979)</a> described a 19-year-old man who had episodes of cardiac dysfunction associated with tetraparesis. A brother had died at age 16 from a heart condition and an older surviving brother suffered from a 'heart condition' similar to that in the proband. The father had experienced attacks of weakness that decreased in frequency with advancing age. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4106724+1265019+421555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Tawil, R., Ptacek, L. J., Pavlakis, S. G., DeVivo, D. C., Penn, A. S., Ozdemir, C., Griggs, R. C. &lt;strong&gt;Andersen&#x27;s syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.&lt;/strong&gt; Ann. Neurol. 35: 326-330, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8080508/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8080508&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410350313&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8080508">Tawil et al. (1994)</a> showed that the Andersen syndrome is distinct from other forms of potassium-sensitive periodic paralysis by demonstrating lack of genetic linkage and concluded that it is probably distinct from the long QT syndrome (<a href="/entry/192500">192500</a>) on the same basis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8080508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Sansone, V., Griggs, R. C., Meola, G., Ptacek, L. J., Barohn, R., Iannaccone, S., Bryan, W., Baker, N., Janas, S. J., Scott, W., Ririe, D., Tawil, R. &lt;strong&gt;Andersen&#x27;s syndrome: a distinct periodic paralysis.&lt;/strong&gt; Ann. Neurol. 42: 305-312, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9307251/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9307251&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410420306&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9307251">Sansone et al. (1997)</a> reported 11 patients from 5 kindreds with the classic triad of potassium-sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance. In these patients, periodic paralysis was associated with low, normal, or high serum potassium levels. A long QTc was observed in almost every case, suggesting this as a minimal diagnostic sign. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9307251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Canun, S., Perez, N., Beirana, L. G. &lt;strong&gt;Andersen syndrome autosomal dominant in three generations.&lt;/strong&gt; Am. J. Med. Genet. 85: 147-156, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10406668/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10406668&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990716)85:2&lt;147::aid-ajmg9&gt;3.0.co;2-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10406668">Canun et al. (1999)</a> suggested that recognition of the characteristic face in Andersen syndrome permits an early diagnosis and the detection of the severe systemic manifestations associated with the syndrome. They described a family in which 10 persons in 3 generations had Andersen syndrome. Facial photographs of 10 affected members of the family were presented. Severity of the facial involvement was not correlated with the severity of heart or muscle involvement of the affected members. Age of onset of periodic paralysis ranged from 4 to 18 years. All affected members with periodic paralysis were responsive to oral potassium except 1, who had normal potassium levels during an attack of paralysis. Two members of the family had no periodic paralysis but had hyperthyroidism. <a href="#4" class="mim-tip-reference" title="Canun, S., Perez, N., Beirana, L. G. &lt;strong&gt;Andersen syndrome autosomal dominant in three generations.&lt;/strong&gt; Am. J. Med. Genet. 85: 147-156, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10406668/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10406668&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990716)85:2&lt;147::aid-ajmg9&gt;3.0.co;2-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10406668">Canun et al. (1999)</a> found a long QTc in only 3 of 8 affected members studied. <a href="#4" class="mim-tip-reference" title="Canun, S., Perez, N., Beirana, L. G. &lt;strong&gt;Andersen syndrome autosomal dominant in three generations.&lt;/strong&gt; Am. J. Med. Genet. 85: 147-156, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10406668/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10406668&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990716)85:2&lt;147::aid-ajmg9&gt;3.0.co;2-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10406668">Canun et al. (1999)</a> did not find short stature; low weight and a slender constitution were found in several relatives. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10406668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Tristani-Firouzi, M., Jensen, J. L., Donaldson, M. R., Sansone, V., Meola, G., Hahn, A., Bendahhou, S., Kwiecinski, H., Fidzianska, A., Plaster, N., Fu, Y.-H., Ptacek, L. J., Tawil, R. &lt;strong&gt;Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).&lt;/strong&gt; J. Clin. Invest. 110: 381-388, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12163457/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12163457&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12163457[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI15183&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12163457">Tristani-Firouzi et al. (2002)</a> presented extensive clinical and in vitro electrophysiologic studies on a total of 17 kindreds with 10 different mutations. Among mutation carriers, the frequency of periodic paralysis was 64% (23 of 36 individuals). Unlike hypokalemic periodic paralysis (<a href="/entry/170400">170400</a>), in which attacks are precipitated by carbohydrate ingestion, no consistent trigger could be identified in Andersen syndrome. Rest following physical exertion was a common trigger, as in the classic forms of periodic paralysis. At least 2 dysmorphic features were present in 28 of 36 KCNJ2 mutation carriers (78%): 14 of 36 (39%) had low-set ears, 13 of 36 (36%) had hypertelorism, 16 of 36 (44%) had small mandibles, 23 of 36 (64%) had clinodactyly, and 4 of 36 (11%) had syndactyly. Cleft palate was identified in 3 of 36 Andersen syndrome subjects (8%) and scoliosis in 4 of 36 (11%). Dysmorphic features were most often mild and nondisfiguring, and were easily overlooked on routine physical examination. This is relevant given that in individuals with cardiac involvement, one-sixth demonstrated mild dysmorphic features as the only other clue to the diagnosis of Andersen syndrome. In this series, LQT was present in 71% of KCNJ2 mutation carriers, with ventricular arrhythmias present in 64%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12163457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Andelfinger, G., Tapper, A. R., Welch, R. C., Vanoye, C. G., George, A. L., Jr., Benson, D. W. &lt;strong&gt;KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.&lt;/strong&gt; Am. J. Hum. Genet. 71: 663-668, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12148092/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12148092&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12148092[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/342360&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12148092">Andelfinger et al. (2002)</a> identified a heterozygous missense mutation (R67W; <a href="/entry/600681#0006">600681.0006</a>) in the KCNJ2 gene in 41 members of a kindred with ventricular arrhythmias (13 of 16 female members, 81%) and periodic paralysis (10 of 25 male members, 40%) segregating as autosomal dominant traits with sex-specific variable expressivity. Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mandible, syndactyly, clinodactyly, cleft palate, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, constitute Andersen syndrome. However, no individual exhibited all manifestations of Andersen syndrome, and this diagnosis was not considered in the proband until other family members were examined. Other features seen in this kindred included unilateral dysplastic kidney and cardiovascular malformation (i.e., bicuspid aortic valve, bicuspid aortic valve with coarctation of the aorta, or valvular pulmonary stenosis), which had not previously been associated with Andersen syndrome. Nonspecific electrocardiographic abnormalities were identified in some individuals, but none had a prolonged QT interval. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12148092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Davies, N. P., Imbrici, P., Fialho, D., Herd, C., Bilsland, L. G., Weber, A., Mueller, R., Hilton-Jones, D., Ealing, J., Boothman, B. R., Giunti, P., Parsons, L. M., Thomas, M., Manzur, A. Y., Jurkat-Rott, K., Lehmann-Horn, F., Chinnery, P. F., Rose, M., Kullmann, D. M., Hanna, M. G. &lt;strong&gt;Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.&lt;/strong&gt; Neurology 65: 1083-1089, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16217063/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16217063&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000178888.03767.74&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16217063">Davies et al. (2005)</a> reported 22 affected individuals from 11 unrelated families with ATS. Most patients showed the common clinical triad of hypokalemic periodic paralysis, ventricular arrhythmias, and dysmorphic features, such as hypertelorism, broad-based nose, hypoplastic mandible, and clinodactyly. Other unusual clinical features included poor dentition with abnormal enamel formation in 2 families, high-pitched voice in 1 family, learning disabilities in 1 family, gait ataxia in 1 patient, and renal tubular defects in 1 patient, Genetic analysis identified 9 different pathogenic mutations in the KCNJ2 gene, including 6 novel mutations. In vitro functional expression studies of 5 of the mutant proteins showed a dominant-negative effect on the wildtype allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16217063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a father and 2 daughters with Andersen syndrome, <a href="#13" class="mim-tip-reference" title="Lu, C.-W., Lin, J.-H., Rajawat, Y. S., Jerng, H., Rami, T. G., Sanchez, X., DeFreitas, G., Carabello, B., DeMayo, F., Kearney, D. L., Miller, G., Li, H., Pfaffinger, P. J., Bowles, N. E., Khoury, D. S., Towbin, J. A. &lt;strong&gt;Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.&lt;/strong&gt; J. Med. Genet. 43: 653-659, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16571646/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16571646&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16571646[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2006.040816&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16571646">Lu et al. (2006)</a> identified heterozygosity for a missense mutation in the KCNJ2 gene (T75R; <a href="/entry/600681#0011">600681.0011</a>). The mutation was not found in the girls' unaffected mother and brother. In vitro studies revealed that the mutant channel was nonfunctional, and T75R transgenic mice had bidirectional ventricular tachycardia after induction and longer QT intervals. All 3 affected individuals had ventricular arrhythmias and dysmorphic features, but only 2 had periodic paralysis. None of the family members had a prolonged QTc interval, but prominent U waves could be observed in the 3 affected members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16571646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Yoon, G., Oberoi, S., Tristani-Firouzi, M., Etheridge, S. P., Quitania, L., Kramer, J. H., Miller, B. L., Fu, Y. H., Ptacek, L. J. &lt;strong&gt;Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.&lt;/strong&gt; Am. J. Med. Genet. 140A: 312-321, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16419128/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16419128&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31092&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16419128">Yoon et al. (2006)</a> prospectively evaluated 10 individuals with confirmed mutations in the KCNJ2 gene and identified a characteristic pattern of craniofacial features and dental and skeletal anomalies. These included broad forehead, short palpebral fissures, relatively long nose with fullness along the bridge and bulbous tip, malar, maxillary, and mandibular hypoplasia, thin upper lip, high-arched or cleft palate, triangular facies, and mild facial asymmetry. Dental anomalies were identified in all patients and consisted of delayed eruption of permanent dentition, oligodontia, and dental root anomalies. Jaw characteristics included small maxilla and mandible, narrow upper and lower dental arches, and antegonial notching of the lower border of the mandible. Skeletal anomalies included hand and foot size at the lower limits of normal, brachydactyly, 2-3 toe syndactyly, and toe clinodactyly. <a href="#19" class="mim-tip-reference" title="Yoon, G., Oberoi, S., Tristani-Firouzi, M., Etheridge, S. P., Quitania, L., Kramer, J. H., Miller, B. L., Fu, Y. H., Ptacek, L. J. &lt;strong&gt;Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.&lt;/strong&gt; Am. J. Med. Genet. 140A: 312-321, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16419128/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16419128&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31092&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16419128">Yoon et al. (2006)</a> proposed that the diagnostic dysmorphology criteria of ATS be extended to include these features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16419128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bendahhou, S., Fournier, E., Gallet, S., Menard, D., Larroque, M.-M., Barhanin, J. &lt;strong&gt;Corticosteroid-exacerbated symptoms in an Andersen&#x27;s syndrome kindred.&lt;/strong&gt; Hum. Molec. Genet. 16: 900-906, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17324964/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17324964&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm034&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17324964">Bendahhou et al. (2007)</a> reported 2 unrelated families with periodic paralysis and cardiac dysrhythmias without significant dysmorphic features. The 19-year-old male proband in 1 family had a small chin but no other noticeable dysmorphism. His first episode of periodic paralysis was triggered by corticosteroid treatment of a skin condition, with improvement after discontinuation of corticosteriods; since that time, he had several more attacks, including another one triggered by corticosteroids. Electromyography showed a typical hypokalemic periodic paralysis pattern. The other proband was a 23-year-old woman with no noticeable dysmorphic features who had difficulty playing sports in childhood, with pain in the lower extremities that made it difficult to walk for a few days afterward. On examination, she had full strength of upper limbs but a permanent motor deficit of the lower limbs. Electrocardiography showed ventricular arrhythmia, bidirectional tachycardia, and extrasystoles. Her mother, maternal aunt, and maternal grandmother all had a history of cardiac arrhythmias, and the grandmother had a pacemaker. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17324964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a prospective evaluation of neurocognition in 10 individuals with Andersen-Tawil syndrome aged 8 to 45 years, <a href="#20" class="mim-tip-reference" title="Yoon, G., Quitania, L., Kramer, J. H., Fu, Y. H., Miller, B. L., Ptacek, L. J. &lt;strong&gt;Andersen-Tawil syndrome: definition of a neurocognitive phenotype.&lt;/strong&gt; Neurology 66: 1703-1710, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16769944/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16769944&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000218214.64942.64&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16769944">Yoon et al. (2006)</a> found evidence for neurocognitive deficits compared to unaffected sibs. There was no difference between the 2 groups on tests of verbal or visual memory, and no patients had an abnormal EEG. Although patients and sibs had similar IQ scores in the normal range, patients reported more school difficulties. Detailed neurocognitive testing showed that patients with ATS had decreased scores on tests of executive functioning, matrix reasoning, mathematics, and reading. Six of the 7 adult patients completed high school, 4 of whom completed 1 or more years of post-secondary or technical education. Five of the 7 adults held full-time jobs at the time of the study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16769944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Chan, H.-F., Chen, M.-L., Su, J.-J., Ko, L.-C., Lin, C.-H., Wu, R.-M. &lt;strong&gt;A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome.&lt;/strong&gt; J. Hum. Genet. 55: 186-188, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20111058/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20111058&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/jhg.2010.2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20111058">Chan et al. (2010)</a> reported a 3-generation Taiwanese family with ATS confirmed by genetic analysis. The 35-year-old female proband had periodic paralysis, characteristic facial features, and long QT syndrome and also had major depression with suicide ideation, hyperreflexia with extensor plantar responses, and evidence of demyelination with periventricular and subcortical white matter lesions on brain MRI. Her 8-year-old affected son had borderline decreased executive function and learning disability. <a href="#5" class="mim-tip-reference" title="Chan, H.-F., Chen, M.-L., Su, J.-J., Ko, L.-C., Lin, C.-H., Wu, R.-M. &lt;strong&gt;A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome.&lt;/strong&gt; J. Hum. Genet. 55: 186-188, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20111058/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20111058&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/jhg.2010.2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20111058">Chan et al. (2010)</a> suggested that neuropsychiatric involvement in ATS may be underestimated, and postulated a role for the KCNJ2 gene in proper myelination and neuronal function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20111058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>The transmission pattern of Andersen syndrome in family 4415 reported by <a href="#14" class="mim-tip-reference" title="Plaster, N. M., Tawil, R., Tristani-Firouzi, M., Canun, S., Bendahhou, S., Tsunoda, A., Donaldson, M. R., Iannaccone, S. T., Brunt, E., Barohn, R., Clark, J., Deymeer, F., and 10 others. &lt;strong&gt;Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen&#x27;s syndrome.&lt;/strong&gt; Cell 105: 511-519, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11371347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11371347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(01)00342-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11371347">Plaster et al. (2001)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11371347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The heterozygous mutations in the KCNJ2 gene that were identified in patients from 5 families by <a href="#14" class="mim-tip-reference" title="Plaster, N. M., Tawil, R., Tristani-Firouzi, M., Canun, S., Bendahhou, S., Tsunoda, A., Donaldson, M. R., Iannaccone, S. T., Brunt, E., Barohn, R., Clark, J., Deymeer, F., and 10 others. &lt;strong&gt;Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen&#x27;s syndrome.&lt;/strong&gt; Cell 105: 511-519, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11371347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11371347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(01)00342-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11371347">Plaster et al. (2001)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11371347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="clinicalManagement" class="mim-anchor"></a>
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<strong>Clinical Management</strong>
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<p>In a young woman with Andersen syndrome and an R218W mutation in the KCNJ2 gene (<a href="/entry/600681#0002">600681.0002</a>), <a href="#9" class="mim-tip-reference" title="Junker, J., Haverkamp, W., Schulze-Bahr, E., Eckardt, L., Paulus, W., Kiefer, R. &lt;strong&gt;Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome.&lt;/strong&gt; Neurology 59: 466 only, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12177393/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12177393&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.59.3.466&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12177393">Junker et al. (2002)</a> observed that amiodarone and acetazolamide treatment resulted in marked and long-lasting improvement of cardiac and muscular symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12177393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p>Using 400 polymorphic markers across the entire genome in 15 individuals of a kindred with Andersen syndrome, <a href="#14" class="mim-tip-reference" title="Plaster, N. M., Tawil, R., Tristani-Firouzi, M., Canun, S., Bendahhou, S., Tsunoda, A., Donaldson, M. R., Iannaccone, S. T., Brunt, E., Barohn, R., Clark, J., Deymeer, F., and 10 others. &lt;strong&gt;Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen&#x27;s syndrome.&lt;/strong&gt; Cell 105: 511-519, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11371347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11371347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(01)00342-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11371347">Plaster et al. (2001)</a> mapped the disease locus to chromosome 17q23 (maximum lod of 3.23 at theta = 0.0 for D17S949) near the KCNJ2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11371347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In a kindred (4415) with Andersen syndrome showing linkage to 17q23, <a href="#14" class="mim-tip-reference" title="Plaster, N. M., Tawil, R., Tristani-Firouzi, M., Canun, S., Bendahhou, S., Tsunoda, A., Donaldson, M. R., Iannaccone, S. T., Brunt, E., Barohn, R., Clark, J., Deymeer, F., and 10 others. &lt;strong&gt;Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen&#x27;s syndrome.&lt;/strong&gt; Cell 105: 511-519, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11371347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11371347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(01)00342-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11371347">Plaster et al. (2001)</a> identified a missense mutation in the KCNJ2 gene (<a href="/entry/600681#0001">600681.0001</a>). They identified 8 additional mutations in the KCNJ2 gene in unrelated patients with Andersen syndrome (see, e.g., <a href="/entry/600681#0002">600681.0002</a>-<a href="/entry/600681#0005">600681.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11371347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using targeted mutation, <a href="#12" class="mim-tip-reference" title="Lopes, C. M. B., Zhang, H., Rohacs, T., Jin, T., Yang, J., Logothetis, D. E. &lt;strong&gt;Alterations in conserved Kir channel-PIP(2) interactions underlie channelopathies.&lt;/strong&gt; Neuron 34: 933-944, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12086641/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12086641&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0896-6273(02)00725-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12086641">Lopes et al. (2002)</a> established that mutations in KCNJ2 residues decreased the strength of channel interactions with phosphatidylinositol 4,5-bisphosphate (PIP2). They concluded that a decrease in channel-PIP2 interactions underlies the molecular mechanism of Andersen syndrome when these mutations are present in patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12086641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 17 unrelated probands with clinical symptoms of ATS, <a href="#8" class="mim-tip-reference" title="Donaldson, M. R., Jensen, J. L., Tristani-Firouzi, M., Tawil, R., Bendahhou, S., Suarez, W. A., Cobo, A. M., Poza, J. J., Behr, E., Wagstaff, J., Szepetowski, P., Pereira, S., Mozaffar, T., Escolar, D. M., Fu, Y.-H., Ptacek, L. J. &lt;strong&gt;PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.&lt;/strong&gt; Neurology 60: 1811-1816, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12796536/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12796536&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000072261.14060.47&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12796536">Donaldson et al. (2003)</a> identified 8 different mutations, including 6 novel mutations, in the KCNJ2 gene in 9 probands. Six probands possessed mutations of residues implicated in binding membrane-associated PIP2. Including previous reports, the authors determined that mutations in PIP2-related residues accounted for disease in 18 of 29 (62%) reported families with KCNJ2-related ATS. <a href="#8" class="mim-tip-reference" title="Donaldson, M. R., Jensen, J. L., Tristani-Firouzi, M., Tawil, R., Bendahhou, S., Suarez, W. A., Cobo, A. M., Poza, J. J., Behr, E., Wagstaff, J., Szepetowski, P., Pereira, S., Mozaffar, T., Escolar, D. M., Fu, Y.-H., Ptacek, L. J. &lt;strong&gt;PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.&lt;/strong&gt; Neurology 60: 1811-1816, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12796536/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12796536&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000072261.14060.47&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12796536">Donaldson et al. (2003)</a> found no phenotypic differences between patients with mutations in the PIP2-related residues and those with mutations elsewhere in the gene. The authors suggested that genetic heterogeneity likely exists for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12796536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Choi, B.-O., Kim, J., Suh, B. C., Yu, J. S., Sunwoo, I. N., Kim, S. J., Kim, G. H., Chung, K. W. &lt;strong&gt;Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.&lt;/strong&gt; J. Hum. Genet. 52: 280-283, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17211524/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17211524&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10038-006-0100-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17211524">Choi et al. (2007)</a> identified 2 different heterozygous missense mutations in the KCNJ2 gene in affected members of 2 Korean families with Andersen-Tawil syndrome. The authors stated that this was the first report of causative mutations in KCNJ2 in Korean ATS patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17211524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated probands with periodic paralysis and cardiac dysrhythmias, who were known to be negative for common CACNA1S and SCN4A mutations causing hypokalemic periodic paralysis, <a href="#3" class="mim-tip-reference" title="Bendahhou, S., Fournier, E., Gallet, S., Menard, D., Larroque, M.-M., Barhanin, J. &lt;strong&gt;Corticosteroid-exacerbated symptoms in an Andersen&#x27;s syndrome kindred.&lt;/strong&gt; Hum. Molec. Genet. 16: 900-906, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17324964/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17324964&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm034&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17324964">Bendahhou et al. (2007)</a> identified heterozygosity for 2 different missense mutations in the KCNJ2 gene (<a href="/entry/600681#0012">600681.0012</a> and <a href="/entry/600681#0013">600681.0013</a>, respectively). <a href="#3" class="mim-tip-reference" title="Bendahhou, S., Fournier, E., Gallet, S., Menard, D., Larroque, M.-M., Barhanin, J. &lt;strong&gt;Corticosteroid-exacerbated symptoms in an Andersen&#x27;s syndrome kindred.&lt;/strong&gt; Hum. Molec. Genet. 16: 900-906, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17324964/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17324964&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm034&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17324964">Bendahhou et al. (2007)</a> noted that except for a small chin in 1 proband, there were no dysmorphic features in these families, and suggested that KCNJ2 should be screened in patients with periodic paralysis even when the classic dysmorphic features of Andersen syndrome are not present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17324964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="Andelfinger2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Andelfinger, G., Tapper, A. R., Welch, R. C., Vanoye, C. G., George, A. L., Jr., Benson, D. W.
<strong>KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12148092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12148092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12148092[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12148092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/342360" target="_blank">Full Text</a>]
</p>
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<a id="2" class="mim-anchor"></a>
<a id="Andersen1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Andersen, E. D., Krasilnikoff, P. A., Overvad, H.
<strong>Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies: a new syndrome?</strong>
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[<a href="https://doi.org/10.1111/j.1651-2227.1971.tb06990.x" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Bendahhou2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bendahhou, S., Fournier, E., Gallet, S., Menard, D., Larroque, M.-M., Barhanin, J.
<strong>Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.</strong>
Hum. Molec. Genet. 16: 900-906, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17324964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17324964</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17324964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddm034" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Canun1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Canun, S., Perez, N., Beirana, L. G.
<strong>Andersen syndrome autosomal dominant in three generations.</strong>
Am. J. Med. Genet. 85: 147-156, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10406668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19990716)85:2&lt;147::aid-ajmg9&gt;3.0.co;2-0" target="_blank">Full Text</a>]
</p>
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<a id="Chan2010" class="mim-anchor"></a>
<div class="">
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Chan, H.-F., Chen, M.-L., Su, J.-J., Ko, L.-C., Lin, C.-H., Wu, R.-M.
<strong>A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome.</strong>
J. Hum. Genet. 55: 186-188, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20111058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20111058</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20111058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/jhg.2010.2" target="_blank">Full Text</a>]
</p>
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<a id="6" class="mim-anchor"></a>
<a id="Choi2007" class="mim-anchor"></a>
<div class="">
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Choi, B.-O., Kim, J., Suh, B. C., Yu, J. S., Sunwoo, I. N., Kim, S. J., Kim, G. H., Chung, K. W.
<strong>Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.</strong>
J. Hum. Genet. 52: 280-283, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17211524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17211524</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17211524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s10038-006-0100-7" target="_blank">Full Text</a>]
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<a id="Davies2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Davies, N. P., Imbrici, P., Fialho, D., Herd, C., Bilsland, L. G., Weber, A., Mueller, R., Hilton-Jones, D., Ealing, J., Boothman, B. R., Giunti, P., Parsons, L. M., Thomas, M., Manzur, A. Y., Jurkat-Rott, K., Lehmann-Horn, F., Chinnery, P. F., Rose, M., Kullmann, D. M., Hanna, M. G.
<strong>Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.</strong>
Neurology 65: 1083-1089, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16217063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16217063</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16217063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000178888.03767.74" target="_blank">Full Text</a>]
</p>
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<a id="Donaldson2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Donaldson, M. R., Jensen, J. L., Tristani-Firouzi, M., Tawil, R., Bendahhou, S., Suarez, W. A., Cobo, A. M., Poza, J. J., Behr, E., Wagstaff, J., Szepetowski, P., Pereira, S., Mozaffar, T., Escolar, D. M., Fu, Y.-H., Ptacek, L. J.
<strong>PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.</strong>
Neurology 60: 1811-1816, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12796536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12796536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12796536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000072261.14060.47" target="_blank">Full Text</a>]
</p>
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<a id="Junker2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Junker, J., Haverkamp, W., Schulze-Bahr, E., Eckardt, L., Paulus, W., Kiefer, R.
<strong>Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome.</strong>
Neurology 59: 466 only, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12177393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12177393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12177393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.59.3.466" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Kramer1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kramer, L. D., Cole, J. P., Messenger, J. C., Ellestad, M. H.
<strong>Cardiac dysfunction in a patient with familial hypokalemic periodic paralysis.</strong>
Chest 75: 189-192, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/421555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">421555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=421555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1378/chest.75.2.189" target="_blank">Full Text</a>]
</p>
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<a id="Levitt1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Levitt, L. P., Rose, L. I., Dawson, D. M.
<strong>Hypokalemic periodic paralysis with arrhythmia.</strong>
New Eng. J. Med. 286: 253-254, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5007210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5007210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5007210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM197202032860507" target="_blank">Full Text</a>]
</p>
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<a id="Lopes2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lopes, C. M. B., Zhang, H., Rohacs, T., Jin, T., Yang, J., Logothetis, D. E.
<strong>Alterations in conserved Kir channel-PIP(2) interactions underlie channelopathies.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12086641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12086641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12086641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0896-6273(02)00725-0" target="_blank">Full Text</a>]
</p>
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<a id="Lu2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lu, C.-W., Lin, J.-H., Rajawat, Y. S., Jerng, H., Rami, T. G., Sanchez, X., DeFreitas, G., Carabello, B., DeMayo, F., Kearney, D. L., Miller, G., Li, H., Pfaffinger, P. J., Bowles, N. E., Khoury, D. S., Towbin, J. A.
<strong>Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.</strong>
J. Med. Genet. 43: 653-659, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16571646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16571646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16571646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16571646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2006.040816" target="_blank">Full Text</a>]
</p>
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<a id="Plaster2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Plaster, N. M., Tawil, R., Tristani-Firouzi, M., Canun, S., Bendahhou, S., Tsunoda, A., Donaldson, M. R., Iannaccone, S. T., Brunt, E., Barohn, R., Clark, J., Deymeer, F., and 10 others.
<strong>Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.</strong>
Cell 105: 511-519, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11371347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11371347</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11371347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0092-8674(01)00342-7" target="_blank">Full Text</a>]
</p>
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<a id="Sansone1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sansone, V., Griggs, R. C., Meola, G., Ptacek, L. J., Barohn, R., Iannaccone, S., Bryan, W., Baker, N., Janas, S. J., Scott, W., Ririe, D., Tawil, R.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9307251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9307251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9307251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.410420306" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
<a id="Stubbs1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stubbs, W. A.
<strong>Bidirectional ventricular tachycardia in familial hypokalaemic periodic paralysis.</strong>
Proc. Roy. Soc. Med. 69: 223-224, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1265019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1265019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1265019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Tawil1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tawil, R., Ptacek, L. J., Pavlakis, S. G., DeVivo, D. C., Penn, A. S., Ozdemir, C., Griggs, R. C.
<strong>Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8080508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8080508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8080508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.410350313" target="_blank">Full Text</a>]
</p>
</div>
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<a id="18" class="mim-anchor"></a>
<a id="Tristani-Firouzi2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tristani-Firouzi, M., Jensen, J. L., Donaldson, M. R., Sansone, V., Meola, G., Hahn, A., Bendahhou, S., Kwiecinski, H., Fidzianska, A., Plaster, N., Fu, Y.-H., Ptacek, L. J., Tawil, R.
<strong>Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).</strong>
J. Clin. Invest. 110: 381-388, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12163457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12163457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12163457[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12163457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI15183" target="_blank">Full Text</a>]
</p>
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<a id="19" class="mim-anchor"></a>
<a id="Yoon2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yoon, G., Oberoi, S., Tristani-Firouzi, M., Etheridge, S. P., Quitania, L., Kramer, J. H., Miller, B. L., Fu, Y. H., Ptacek, L. J.
<strong>Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.</strong>
Am. J. Med. Genet. 140A: 312-321, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16419128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16419128</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16419128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.31092" target="_blank">Full Text</a>]
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<a id="Yoon2006" class="mim-anchor"></a>
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Yoon, G., Quitania, L., Kramer, J. H., Fu, Y. H., Miller, B. L., Ptacek, L. J.
<strong>Andersen-Tawil syndrome: definition of a neurocognitive phenotype.</strong>
Neurology 66: 1703-1710, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16769944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16769944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16769944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000218214.64942.64" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 1/20/2011
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Cassandra L. Kniffin - updated : 4/20/2010<br>Cassandra L. Kniffin - updated : 6/13/2007<br>Marla J. F. O'Neill - updated : 5/29/2007<br>Cassandra L. Kniffin - updated : 2/5/2007<br>Marla J. F. O'Neill - updated : 8/31/2006<br>Marla J. F. O'Neill - updated : 3/7/2006<br>Cassandra L. Kniffin - updated : 8/11/2003<br>Victor A. McKusick - updated : 1/15/2003<br>Dawn Watkins-Chow - updated : 11/14/2002<br>Stylianos E. Antonarakis - updated : 6/4/2001<br>Victor A. McKusick - updated : 7/20/1999
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Creation Date:
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Victor A. McKusick : 5/4/1994
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alopez : 10/21/2024
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alopez : 10/21/2024<br>alopez : 10/02/2024<br>carol : 04/29/2024<br>carol : 04/23/2014<br>wwang : 2/2/2011<br>terry : 1/20/2011<br>wwang : 4/29/2010<br>ckniffin : 4/20/2010<br>wwang : 6/27/2007<br>ckniffin : 6/13/2007<br>wwang : 5/29/2007<br>wwang : 2/8/2007<br>ckniffin : 2/5/2007<br>carol : 11/10/2006<br>carol : 11/9/2006<br>wwang : 9/1/2006<br>terry : 8/31/2006<br>wwang : 3/15/2006<br>terry : 3/7/2006<br>terry : 3/7/2006<br>carol : 3/17/2005<br>cwells : 8/20/2003<br>ckniffin : 8/11/2003<br>carol : 2/27/2003<br>carol : 2/25/2003<br>terry : 2/6/2003<br>alopez : 1/15/2003<br>tkritzer : 1/13/2003<br>cwells : 11/14/2002<br>carol : 10/21/2002<br>ckniffin : 10/16/2002<br>mgross : 6/4/2001<br>mgross : 6/4/2001<br>mcapotos : 12/9/1999<br>jlewis : 8/2/1999<br>terry : 7/20/1999<br>terry : 5/5/1999<br>carol : 5/4/1994
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<strong>#</strong> 170390
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<span class="mim-font">
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
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<em>Alternative titles; symbols</em>
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ANDERSEN SYNDROME<br />
LONG QT SYNDROME 7; LQT7<br />
ANDERSEN-TAWIL SYNDROME; ATS<br />
PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE
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<strong>SNOMEDCT:</strong> 422348008; &nbsp;
<strong>ORPHA:</strong> 37553; &nbsp;
<strong>DO:</strong> 0050434; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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17q24.3
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Andersen syndrome
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170390
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Autosomal dominant
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3
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KCNJ2
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600681
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Andersen cardiodysrhythmic periodic paralysis, also known as Andersen syndrome or Andersen-Tawil syndrome, is caused by heterozygous mutation in the KCNJ2 gene (600681) on chromosome 17q24.</p>
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<strong>Description</strong>
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<p>Andersen cardiodysrhythmic periodic paralysis, also known as Andersen syndrome or Andersen-Tawil syndrome, is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005). </p>
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<strong>Nomenclature</strong>
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<p>This Andersen syndrome is not to be confused with Andersen disease, type IV glycogen storage disease (GSD4; 232500).</p>
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<strong>Clinical Features</strong>
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<p>Tawil et al. (1994) used the designation Andersen syndrome for a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. They found reports of 10 patients and added 4 new patients in 3 kindreds. All the patients had potassium-sensitive periodic paralysis without myotonia indistinguishable from other forms of hyperkalemic periodic paralysis (see 170500). In 1 family, a 45-year-old mother and her 22-year-old son were affected. The son had short stature, low-set ears, hypoplastic mandible, clinodactyly, and scoliosis. The mother was said to have the same dysmorphic features. Tawil et al. (1994) emphasized the variability of both the dysmorphic features and the cardiac manifestations. A variable prolongation of the QT interval, ventricular bigeminy, and short runs of bidirectional ventricular tachycardia were observed. Sudden death in this syndrome was reported by Levitt et al. (1972). </p><p>Andersen et al. (1971) reported the case of an 8-year-old boy who was short of stature and had hypertelorism, broad nasal root, mandibular hypoplasia, scaphocephaly, and clinodactyly V, as well as a defect of the soft and hard palate. Stubbs (1976) described a 31-year-old housewife with bidirectional ventricular tachycardia whose mother died of 'heart failure' at age 37. Kramer et al. (1979) described a 19-year-old man who had episodes of cardiac dysfunction associated with tetraparesis. A brother had died at age 16 from a heart condition and an older surviving brother suffered from a 'heart condition' similar to that in the proband. The father had experienced attacks of weakness that decreased in frequency with advancing age. </p><p>Tawil et al. (1994) showed that the Andersen syndrome is distinct from other forms of potassium-sensitive periodic paralysis by demonstrating lack of genetic linkage and concluded that it is probably distinct from the long QT syndrome (192500) on the same basis. </p><p>Sansone et al. (1997) reported 11 patients from 5 kindreds with the classic triad of potassium-sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance. In these patients, periodic paralysis was associated with low, normal, or high serum potassium levels. A long QTc was observed in almost every case, suggesting this as a minimal diagnostic sign. </p><p>Canun et al. (1999) suggested that recognition of the characteristic face in Andersen syndrome permits an early diagnosis and the detection of the severe systemic manifestations associated with the syndrome. They described a family in which 10 persons in 3 generations had Andersen syndrome. Facial photographs of 10 affected members of the family were presented. Severity of the facial involvement was not correlated with the severity of heart or muscle involvement of the affected members. Age of onset of periodic paralysis ranged from 4 to 18 years. All affected members with periodic paralysis were responsive to oral potassium except 1, who had normal potassium levels during an attack of paralysis. Two members of the family had no periodic paralysis but had hyperthyroidism. Canun et al. (1999) found a long QTc in only 3 of 8 affected members studied. Canun et al. (1999) did not find short stature; low weight and a slender constitution were found in several relatives. </p><p>Tristani-Firouzi et al. (2002) presented extensive clinical and in vitro electrophysiologic studies on a total of 17 kindreds with 10 different mutations. Among mutation carriers, the frequency of periodic paralysis was 64% (23 of 36 individuals). Unlike hypokalemic periodic paralysis (170400), in which attacks are precipitated by carbohydrate ingestion, no consistent trigger could be identified in Andersen syndrome. Rest following physical exertion was a common trigger, as in the classic forms of periodic paralysis. At least 2 dysmorphic features were present in 28 of 36 KCNJ2 mutation carriers (78%): 14 of 36 (39%) had low-set ears, 13 of 36 (36%) had hypertelorism, 16 of 36 (44%) had small mandibles, 23 of 36 (64%) had clinodactyly, and 4 of 36 (11%) had syndactyly. Cleft palate was identified in 3 of 36 Andersen syndrome subjects (8%) and scoliosis in 4 of 36 (11%). Dysmorphic features were most often mild and nondisfiguring, and were easily overlooked on routine physical examination. This is relevant given that in individuals with cardiac involvement, one-sixth demonstrated mild dysmorphic features as the only other clue to the diagnosis of Andersen syndrome. In this series, LQT was present in 71% of KCNJ2 mutation carriers, with ventricular arrhythmias present in 64%. </p><p>Andelfinger et al. (2002) identified a heterozygous missense mutation (R67W; 600681.0006) in the KCNJ2 gene in 41 members of a kindred with ventricular arrhythmias (13 of 16 female members, 81%) and periodic paralysis (10 of 25 male members, 40%) segregating as autosomal dominant traits with sex-specific variable expressivity. Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mandible, syndactyly, clinodactyly, cleft palate, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, constitute Andersen syndrome. However, no individual exhibited all manifestations of Andersen syndrome, and this diagnosis was not considered in the proband until other family members were examined. Other features seen in this kindred included unilateral dysplastic kidney and cardiovascular malformation (i.e., bicuspid aortic valve, bicuspid aortic valve with coarctation of the aorta, or valvular pulmonary stenosis), which had not previously been associated with Andersen syndrome. Nonspecific electrocardiographic abnormalities were identified in some individuals, but none had a prolonged QT interval. </p><p>Davies et al. (2005) reported 22 affected individuals from 11 unrelated families with ATS. Most patients showed the common clinical triad of hypokalemic periodic paralysis, ventricular arrhythmias, and dysmorphic features, such as hypertelorism, broad-based nose, hypoplastic mandible, and clinodactyly. Other unusual clinical features included poor dentition with abnormal enamel formation in 2 families, high-pitched voice in 1 family, learning disabilities in 1 family, gait ataxia in 1 patient, and renal tubular defects in 1 patient, Genetic analysis identified 9 different pathogenic mutations in the KCNJ2 gene, including 6 novel mutations. In vitro functional expression studies of 5 of the mutant proteins showed a dominant-negative effect on the wildtype allele. </p><p>In a father and 2 daughters with Andersen syndrome, Lu et al. (2006) identified heterozygosity for a missense mutation in the KCNJ2 gene (T75R; 600681.0011). The mutation was not found in the girls' unaffected mother and brother. In vitro studies revealed that the mutant channel was nonfunctional, and T75R transgenic mice had bidirectional ventricular tachycardia after induction and longer QT intervals. All 3 affected individuals had ventricular arrhythmias and dysmorphic features, but only 2 had periodic paralysis. None of the family members had a prolonged QTc interval, but prominent U waves could be observed in the 3 affected members. </p><p>Yoon et al. (2006) prospectively evaluated 10 individuals with confirmed mutations in the KCNJ2 gene and identified a characteristic pattern of craniofacial features and dental and skeletal anomalies. These included broad forehead, short palpebral fissures, relatively long nose with fullness along the bridge and bulbous tip, malar, maxillary, and mandibular hypoplasia, thin upper lip, high-arched or cleft palate, triangular facies, and mild facial asymmetry. Dental anomalies were identified in all patients and consisted of delayed eruption of permanent dentition, oligodontia, and dental root anomalies. Jaw characteristics included small maxilla and mandible, narrow upper and lower dental arches, and antegonial notching of the lower border of the mandible. Skeletal anomalies included hand and foot size at the lower limits of normal, brachydactyly, 2-3 toe syndactyly, and toe clinodactyly. Yoon et al. (2006) proposed that the diagnostic dysmorphology criteria of ATS be extended to include these features. </p><p>Bendahhou et al. (2007) reported 2 unrelated families with periodic paralysis and cardiac dysrhythmias without significant dysmorphic features. The 19-year-old male proband in 1 family had a small chin but no other noticeable dysmorphism. His first episode of periodic paralysis was triggered by corticosteroid treatment of a skin condition, with improvement after discontinuation of corticosteriods; since that time, he had several more attacks, including another one triggered by corticosteroids. Electromyography showed a typical hypokalemic periodic paralysis pattern. The other proband was a 23-year-old woman with no noticeable dysmorphic features who had difficulty playing sports in childhood, with pain in the lower extremities that made it difficult to walk for a few days afterward. On examination, she had full strength of upper limbs but a permanent motor deficit of the lower limbs. Electrocardiography showed ventricular arrhythmia, bidirectional tachycardia, and extrasystoles. Her mother, maternal aunt, and maternal grandmother all had a history of cardiac arrhythmias, and the grandmother had a pacemaker. </p>
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<strong>Other Features</strong>
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<p>In a prospective evaluation of neurocognition in 10 individuals with Andersen-Tawil syndrome aged 8 to 45 years, Yoon et al. (2006) found evidence for neurocognitive deficits compared to unaffected sibs. There was no difference between the 2 groups on tests of verbal or visual memory, and no patients had an abnormal EEG. Although patients and sibs had similar IQ scores in the normal range, patients reported more school difficulties. Detailed neurocognitive testing showed that patients with ATS had decreased scores on tests of executive functioning, matrix reasoning, mathematics, and reading. Six of the 7 adult patients completed high school, 4 of whom completed 1 or more years of post-secondary or technical education. Five of the 7 adults held full-time jobs at the time of the study. </p><p>Chan et al. (2010) reported a 3-generation Taiwanese family with ATS confirmed by genetic analysis. The 35-year-old female proband had periodic paralysis, characteristic facial features, and long QT syndrome and also had major depression with suicide ideation, hyperreflexia with extensor plantar responses, and evidence of demyelination with periventricular and subcortical white matter lesions on brain MRI. Her 8-year-old affected son had borderline decreased executive function and learning disability. Chan et al. (2010) suggested that neuropsychiatric involvement in ATS may be underestimated, and postulated a role for the KCNJ2 gene in proper myelination and neuronal function. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of Andersen syndrome in family 4415 reported by Plaster et al. (2001) was consistent with autosomal dominant inheritance. </p><p>The heterozygous mutations in the KCNJ2 gene that were identified in patients from 5 families by Plaster et al. (2001) occurred de novo. </p>
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<strong>Clinical Management</strong>
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<p>In a young woman with Andersen syndrome and an R218W mutation in the KCNJ2 gene (600681.0002), Junker et al. (2002) observed that amiodarone and acetazolamide treatment resulted in marked and long-lasting improvement of cardiac and muscular symptoms. </p>
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<strong>Mapping</strong>
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<p>Using 400 polymorphic markers across the entire genome in 15 individuals of a kindred with Andersen syndrome, Plaster et al. (2001) mapped the disease locus to chromosome 17q23 (maximum lod of 3.23 at theta = 0.0 for D17S949) near the KCNJ2 gene. </p>
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<strong>Molecular Genetics</strong>
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<p>In a kindred (4415) with Andersen syndrome showing linkage to 17q23, Plaster et al. (2001) identified a missense mutation in the KCNJ2 gene (600681.0001). They identified 8 additional mutations in the KCNJ2 gene in unrelated patients with Andersen syndrome (see, e.g., 600681.0002-600681.0005). </p><p>Using targeted mutation, Lopes et al. (2002) established that mutations in KCNJ2 residues decreased the strength of channel interactions with phosphatidylinositol 4,5-bisphosphate (PIP2). They concluded that a decrease in channel-PIP2 interactions underlies the molecular mechanism of Andersen syndrome when these mutations are present in patients. </p><p>Among 17 unrelated probands with clinical symptoms of ATS, Donaldson et al. (2003) identified 8 different mutations, including 6 novel mutations, in the KCNJ2 gene in 9 probands. Six probands possessed mutations of residues implicated in binding membrane-associated PIP2. Including previous reports, the authors determined that mutations in PIP2-related residues accounted for disease in 18 of 29 (62%) reported families with KCNJ2-related ATS. Donaldson et al. (2003) found no phenotypic differences between patients with mutations in the PIP2-related residues and those with mutations elsewhere in the gene. The authors suggested that genetic heterogeneity likely exists for this disorder. </p><p>Choi et al. (2007) identified 2 different heterozygous missense mutations in the KCNJ2 gene in affected members of 2 Korean families with Andersen-Tawil syndrome. The authors stated that this was the first report of causative mutations in KCNJ2 in Korean ATS patients. </p><p>In 2 unrelated probands with periodic paralysis and cardiac dysrhythmias, who were known to be negative for common CACNA1S and SCN4A mutations causing hypokalemic periodic paralysis, Bendahhou et al. (2007) identified heterozygosity for 2 different missense mutations in the KCNJ2 gene (600681.0012 and 600681.0013, respectively). Bendahhou et al. (2007) noted that except for a small chin in 1 proband, there were no dysmorphic features in these families, and suggested that KCNJ2 should be screened in patients with periodic paralysis even when the classic dysmorphic features of Andersen syndrome are not present. </p>
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
Andelfinger, G., Tapper, A. R., Welch, R. C., Vanoye, C. G., George, A. L., Jr., Benson, D. W.
<strong>KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.</strong>
Am. J. Hum. Genet. 71: 663-668, 2002.
[PubMed: 12148092]
[Full Text: https://doi.org/10.1086/342360]
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<p class="mim-text-font">
Andersen, E. D., Krasilnikoff, P. A., Overvad, H.
<strong>Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies: a new syndrome?</strong>
Acta Paediat. Scand. 60: 559-564, 1971.
[PubMed: 4106724]
[Full Text: https://doi.org/10.1111/j.1651-2227.1971.tb06990.x]
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<p class="mim-text-font">
Bendahhou, S., Fournier, E., Gallet, S., Menard, D., Larroque, M.-M., Barhanin, J.
<strong>Corticosteroid-exacerbated symptoms in an Andersen&#x27;s syndrome kindred.</strong>
Hum. Molec. Genet. 16: 900-906, 2007.
[PubMed: 17324964]
[Full Text: https://doi.org/10.1093/hmg/ddm034]
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<li>
<p class="mim-text-font">
Canun, S., Perez, N., Beirana, L. G.
<strong>Andersen syndrome autosomal dominant in three generations.</strong>
Am. J. Med. Genet. 85: 147-156, 1999.
[PubMed: 10406668]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990716)85:2&lt;147::aid-ajmg9&gt;3.0.co;2-0]
</p>
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<li>
<p class="mim-text-font">
Chan, H.-F., Chen, M.-L., Su, J.-J., Ko, L.-C., Lin, C.-H., Wu, R.-M.
<strong>A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome.</strong>
J. Hum. Genet. 55: 186-188, 2010.
[PubMed: 20111058]
[Full Text: https://doi.org/10.1038/jhg.2010.2]
</p>
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<li>
<p class="mim-text-font">
Choi, B.-O., Kim, J., Suh, B. C., Yu, J. S., Sunwoo, I. N., Kim, S. J., Kim, G. H., Chung, K. W.
<strong>Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.</strong>
J. Hum. Genet. 52: 280-283, 2007.
[PubMed: 17211524]
[Full Text: https://doi.org/10.1007/s10038-006-0100-7]
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<li>
<p class="mim-text-font">
Davies, N. P., Imbrici, P., Fialho, D., Herd, C., Bilsland, L. G., Weber, A., Mueller, R., Hilton-Jones, D., Ealing, J., Boothman, B. R., Giunti, P., Parsons, L. M., Thomas, M., Manzur, A. Y., Jurkat-Rott, K., Lehmann-Horn, F., Chinnery, P. F., Rose, M., Kullmann, D. M., Hanna, M. G.
<strong>Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.</strong>
Neurology 65: 1083-1089, 2005.
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[Full Text: https://doi.org/10.1212/01.wnl.0000178888.03767.74]
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Donaldson, M. R., Jensen, J. L., Tristani-Firouzi, M., Tawil, R., Bendahhou, S., Suarez, W. A., Cobo, A. M., Poza, J. J., Behr, E., Wagstaff, J., Szepetowski, P., Pereira, S., Mozaffar, T., Escolar, D. M., Fu, Y.-H., Ptacek, L. J.
<strong>PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.</strong>
Neurology 60: 1811-1816, 2003.
[PubMed: 12796536]
[Full Text: https://doi.org/10.1212/01.wnl.0000072261.14060.47]
</p>
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Junker, J., Haverkamp, W., Schulze-Bahr, E., Eckardt, L., Paulus, W., Kiefer, R.
<strong>Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome.</strong>
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Kramer, L. D., Cole, J. P., Messenger, J. C., Ellestad, M. H.
<strong>Cardiac dysfunction in a patient with familial hypokalemic periodic paralysis.</strong>
Chest 75: 189-192, 1979.
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Levitt, L. P., Rose, L. I., Dawson, D. M.
<strong>Hypokalemic periodic paralysis with arrhythmia.</strong>
New Eng. J. Med. 286: 253-254, 1972.
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Lopes, C. M. B., Zhang, H., Rohacs, T., Jin, T., Yang, J., Logothetis, D. E.
<strong>Alterations in conserved Kir channel-PIP(2) interactions underlie channelopathies.</strong>
Neuron 34: 933-944, 2002.
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[Full Text: https://doi.org/10.1016/s0896-6273(02)00725-0]
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Lu, C.-W., Lin, J.-H., Rajawat, Y. S., Jerng, H., Rami, T. G., Sanchez, X., DeFreitas, G., Carabello, B., DeMayo, F., Kearney, D. L., Miller, G., Li, H., Pfaffinger, P. J., Bowles, N. E., Khoury, D. S., Towbin, J. A.
<strong>Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.</strong>
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Plaster, N. M., Tawil, R., Tristani-Firouzi, M., Canun, S., Bendahhou, S., Tsunoda, A., Donaldson, M. R., Iannaccone, S. T., Brunt, E., Barohn, R., Clark, J., Deymeer, F., and 10 others.
<strong>Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen&#x27;s syndrome.</strong>
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Sansone, V., Griggs, R. C., Meola, G., Ptacek, L. J., Barohn, R., Iannaccone, S., Bryan, W., Baker, N., Janas, S. J., Scott, W., Ririe, D., Tawil, R.
<strong>Andersen&#x27;s syndrome: a distinct periodic paralysis.</strong>
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Stubbs, W. A.
<strong>Bidirectional ventricular tachycardia in familial hypokalaemic periodic paralysis.</strong>
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Tawil, R., Ptacek, L. J., Pavlakis, S. G., DeVivo, D. C., Penn, A. S., Ozdemir, C., Griggs, R. C.
<strong>Andersen&#x27;s syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.</strong>
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Tristani-Firouzi, M., Jensen, J. L., Donaldson, M. R., Sansone, V., Meola, G., Hahn, A., Bendahhou, S., Kwiecinski, H., Fidzianska, A., Plaster, N., Fu, Y.-H., Ptacek, L. J., Tawil, R.
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Yoon, G., Quitania, L., Kramer, J. H., Fu, Y. H., Miller, B. L., Ptacek, L. J.
<strong>Andersen-Tawil syndrome: definition of a neurocognitive phenotype.</strong>
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Marla J. F. O&#x27;Neill - updated : 1/20/2011<br>Cassandra L. Kniffin - updated : 4/20/2010<br>Cassandra L. Kniffin - updated : 6/13/2007<br>Marla J. F. O&#x27;Neill - updated : 5/29/2007<br>Cassandra L. Kniffin - updated : 2/5/2007<br>Marla J. F. O&#x27;Neill - updated : 8/31/2006<br>Marla J. F. O&#x27;Neill - updated : 3/7/2006<br>Cassandra L. Kniffin - updated : 8/11/2003<br>Victor A. McKusick - updated : 1/15/2003<br>Dawn Watkins-Chow - updated : 11/14/2002<br>Stylianos E. Antonarakis - updated : 6/4/2001<br>Victor A. McKusick - updated : 7/20/1999
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