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<title>
Entry
- #214100 - PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A
- OMIM
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<span class="h4">#214100</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/214100"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS214100"> <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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<a href="#otherFeatures">Other Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</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=PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)" 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>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11215&Typ=Pat" title="Peroxisome biogenesis disorder" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Peroxisome biogenesis diso…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=225&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Zellweger syndrome&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1448/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79189" title="Peroxisome biogenesis disorder" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Peroxisome biogenesis diso…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Zellweger syndrome</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/02dd8b33-4bc5-4dc6-891f-ac0e6944fb88/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>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<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>
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</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:0080476" 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/214100" 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:0080476" 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>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
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</span>
</div>
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<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:214100" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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>
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</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> 88469006<br />
<strong>ICD10CM:</strong> E71.510<br />
<strong>ORPHA:</strong> 79189, 912<br />
<strong>DO:</strong> 0080476<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>
214100
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A
</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">
ZS; ZWS<br />
CEREBROHEPATORENAL SYNDROME; CHR
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1, INCLUDED; CG1, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP E, INCLUDED; CGE, INCLUDED
</span>
</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/7/410?start=-3&limit=10&highlight=410">
7q21.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Peroxisome biogenesis disorder 1A (Zellweger)
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214100"> 214100 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
PEX1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> 602136 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/214100" 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')">
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<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS214100" 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')">
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&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/214100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/214100" 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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</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> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</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">
- Large fontanelles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276709006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276709006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000239</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000239</a>]</span><br /> -
Turribrachycephaly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857484</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000244</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000244</a>]</span><br /> -
Flat occiput <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837402&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837402</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005469" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005469</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005469" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005469</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0784fc0f45522e9726984768f3b187c7" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Occiput,Flat-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0784fc0f45522e9726984768f3b187c7&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 /> -
Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050&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">
- Flat face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Flat-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03&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 /> -
Round face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239479</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000311</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000311</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ab9bbad3c428d627c2b454902c17fa0" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Round-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=2ab9bbad3c428d627c2b454902c17fa0&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 /> -
High forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239676</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000348" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000348</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000348" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000348</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1ed202dc7ca7d5b2c5e34a787d713dec" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Hairline,High_Anterior-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=1ed202dc7ca7d5b2c5e34a787d713dec&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> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Posteriorly rotated ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253251006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253251006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431478&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431478</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000358" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000358</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000358" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000358</a>]</span><br /> -
Sensorineural deafness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br /> -
Abnormal helices <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856660&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856660</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011039" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011039</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011039" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011039</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">
- Upward slanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246799009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246799009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423109</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span><br /> -
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 /> -
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br /> -
Brushfield spots <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400960002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400960002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1303007&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1303007</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001088" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001088</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001088" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001088</a>]</span><br /> -
Corneal clouding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95735008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95735008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521719&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521719</a>, <a href="https://bioportal.bioontology.org/search?q=C0010038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span><br /> -
Cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Pigmentary retinopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28835009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551715</a>, <a href="https://bioportal.bioontology.org/search?q=C0035334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span><br /> -
Pale optic disc <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302200001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302200001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554970&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554970</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000543</a>]</span><br /> -
Abnormal electroretinogram <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274524001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274524001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R94.111" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R94.111</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0476397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0476397</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000512" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000512</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000512" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000512</a>]</span><br /> -
Glaucoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23986001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23986001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H40-H42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40-H42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/365.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017601</a>, <a href="https://bioportal.bioontology.org/search?q=C0997768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0997768</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span><br /> -
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</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">
- Anteverted nares <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nares,Anteverted-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de&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">
- 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> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Palate,High-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29&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 /> -
Protruding tongue <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249872000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249872000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/285503005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">285503005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241442</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010808</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a5aa73dcc42adf91162715d89977ff62" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Tongue,Protruding-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=a5aa73dcc42adf91162715d89977ff62&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> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Redundant skin folds of neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840319&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840319</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005989" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005989</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005989" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005989</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">
- Ventricular septal defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Patent ductus arteriosus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83330001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83330001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pulmonary hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80825009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80825009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265783</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002089</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002089</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> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bell-shaped thorax <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865186&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865186</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001591</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001591</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Absent liver peroxisomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859234</a>]</span><br /> -
Intrahepatic biliary dysgenesis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859235&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859235</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001401</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001401</a>]</span><br /> -
Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
Prolonged neonatal jaundice <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859236&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859236</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006579</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006579</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pyloric hypertrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859237</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Clitoromegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80212005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80212005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N90.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N90.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/624.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">624.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0156394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008665</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008665</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br /> -
Renal cortical microcysts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865877</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004734</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004734</a>]</span><br /> -
Absent renal peroxisomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859233</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">
- Stippled epiphyses (especially patellar and acetabular regions) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859239&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859239</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278715001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278715001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q77.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q77.3</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010655" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010655</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">
- Wide cranial sutures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268855009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268855009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010537</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">
- Cubitus valgus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54583007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54583007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70123009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70123009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265611</a>, <a href="https://bioportal.bioontology.org/search?q=C0158465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158465</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002967</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002967</a>]</span><br /> -
Metatarsus adductus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23568008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23568008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.22</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.53" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.53</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265647</a>, <a href="https://bioportal.bioontology.org/search?q=C4082169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082169</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001840</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001840</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6cd23b559b8e056832b088ae138ae574" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Metatarsus_Adductus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6cd23b559b8e056832b088ae138ae574&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> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Transverse palmar crease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248409006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248409006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</a>]</span><br /> -
Ulnar deviation of hands <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249757009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249757009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241521&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241521</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009487</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">
- Talipes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br /> -
Rocker-bottom feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205082007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205082007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001838" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001838</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001838" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001838</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Transverse palmar crease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248409006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248409006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</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">
- Severe mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40700009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40700009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F72</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/318.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">318.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036857</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010864</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010864</a>]</span><br /> -
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Hyporeflexia or areflexia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847389&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847389</a>]</span><br /> -
Polymicrogyria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4945003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4945003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266464&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266464</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002126</a>]</span><br /> -
Heterotopias/abnormal migration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002269</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002269</a>]</span><br /> -
Subependymal cysts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833431&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833431</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002416" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002416</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002416" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002416</a>]</span><br /> -
Agenesis/hypoplasia of corpus callosum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4746767&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4746767</a>]</span><br /> -
Hypoplastic olfactory lobes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859231&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859231</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006894</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006894</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Small adrenal glands <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237774001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237774001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0342491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0342491</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000835</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000835</a>]</span><br />
</span>
</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">
- Decreased dihydroxyacetone phosphate acyltransferase (DHAP-AT) activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859240&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859240</a>]</span><br /> -
Elevated long chain fatty acids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003455" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003455</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003455" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003455</a>]</span><br /> -
Elevated serum iron and iron binding capacity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859242</a>]</span><br /> -
Decreased plasmalogen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859243&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859243</a>]</span><br /> -
Increased phytanic acid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1609507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1609507</a>]</span><br /> -
Pipecolic acidemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88469006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88469006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13306007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13306007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0282526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0282526</a>]</span><br /> -
Aminoaciduria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35912001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35912001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238621</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003355</a>]</span><br /> -
Albuminuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274769005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274769005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012592</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012592</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">
- Breech presentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249101006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249101006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6096002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6096002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0006157&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0006157</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001623</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001623</a>]</span><br /> -
Death usually in first year of life<br /> -
Infants occasionally mistaken as having Down syndrome<br /> -
Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><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 peroxisome biogenesis factor-1 gene (PEX1, <a href="/entry/602136#0001">602136.0001</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>
Peroxisome biogenesis disorder
- <a href="/phenotypicSeries/PS214100">PS214100</a>
- 27 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/1/68?start=-3&limit=10&highlight=68"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614871"> Peroxisome biogenesis disorder 6B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614871"> 614871 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602859"> PEX10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602859"> 602859 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/68?start=-3&limit=10&highlight=68"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614870"> Peroxisome biogenesis disorder 6A (Zellweger) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614870"> 614870 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602859"> PEX10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602859"> 602859 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/140?start=-3&limit=10&highlight=140"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614887"> Peroxisome biogenesis disorder 13A (Zellweger) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614887"> 614887 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601791"> PEX14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601791"> 601791 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1024?start=-3&limit=10&highlight=1024"> 1q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614920"> Peroxisome biogenesis disorder 14B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614920"> 614920 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603867"> PEX11B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603867"> 603867 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1315?start=-3&limit=10&highlight=1315"> 1q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614886"> Peroxisome biogenesis disorder 12A (Zellweger) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614886"> 614886 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600279"> PEX19 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600279"> 600279 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/279?start=-3&limit=10&highlight=279"> 2p15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614885"> Peroxisome biogenesis disorder 11B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614885"> 614885 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> PEX13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> 601789 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/279?start=-3&limit=10&highlight=279"> 2p15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614883"> Peroxisome biogenesis disorder 11A (Zellweger) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614883"> 614883 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> PEX13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> 601789 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/509?start=-3&limit=10&highlight=509"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616617"> Heimler syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/616617"> 616617 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> PEX6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> 601498 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/509?start=-3&limit=10&highlight=509"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614863"> Peroxisome biogenesis disorder 4B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614863"> 614863 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> PEX6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> 601498 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/509?start=-3&limit=10&highlight=509"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614862"> Peroxisome biogenesis disorder 4A (Zellweger) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614862"> 614862 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> PEX6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> 601498 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/889?start=-3&limit=10&highlight=889"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/215100"> Rhizomelic chondrodysplasia punctata, type 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/215100"> 215100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> PEX7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> 601757 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/889?start=-3&limit=10&highlight=889"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614879"> Peroxisome biogenesis disorder 9B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614879"> 614879 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> PEX7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> 601757 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/916?start=-3&limit=10&highlight=916"> 6q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614882"> Peroxisome biogenesis disorder 10A (Zellweger) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614882"> 614882 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603164"> PEX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603164"> 603164 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/916?start=-3&limit=10&highlight=916"> 6q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617370"> ?Peroxisome biogenesis disorder 10B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/617370"> 617370 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603164"> PEX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603164"> 603164 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/410?start=-3&limit=10&highlight=410"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601539"> Peroxisome biogenesis disorder 1B (NALD/IRD) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/601539"> 601539 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> PEX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> 602136 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/410?start=-3&limit=10&highlight=410"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214100"> Peroxisome biogenesis disorder 1A (Zellweger) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/214100"> 214100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> PEX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> 602136 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/410?start=-3&limit=10&highlight=410"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/234580"> Heimler syndrome 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/234580"> 234580 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> PEX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> 602136 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/356?start=-3&limit=10&highlight=356"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614866"> Peroxisome biogenesis disorder 5A (Zellweger) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614866"> 614866 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170993"> PEX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170993"> 170993 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/356?start=-3&limit=10&highlight=356"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614867"> Peroxisome biogenesis disorder 5B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614867"> 614867 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170993"> PEX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170993"> 170993 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/339?start=-3&limit=10&highlight=339"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614877"> Peroxisome biogenesis disorder 8B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614877"> 614877 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603360"> PEX16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603360"> 603360 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/339?start=-3&limit=10&highlight=339"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614876"> Peroxisome biogenesis disorder 8A (Zellweger) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614876"> 614876 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603360"> PEX16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603360"> 603360 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/94?start=-3&limit=10&highlight=94"> 12p13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/202370"> Peroxisome biogenesis disorder 2B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/202370"> 202370 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600414"> PEX5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600414"> 600414 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/94?start=-3&limit=10&highlight=94"> 12p13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214110"> Peroxisome biogenesis disorder 2A (Zellweger) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/214110"> 214110 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600414"> PEX5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600414"> 600414 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/424?start=-3&limit=10&highlight=424"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614859"> Peroxisome biogenesis disorder 3A (Zellweger) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614859"> 614859 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601758"> PEX12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601758"> 601758 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/424?start=-3&limit=10&highlight=424"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/266510"> Peroxisome biogenesis disorder 3B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/266510"> 266510 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601758"> PEX12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601758"> 601758 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/26?start=-3&limit=10&highlight=26"> 22q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614872"> Peroxisome biogenesis disorder 7A (Zellweger) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614872"> 614872 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608666"> PEX26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608666"> 608666 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/26?start=-3&limit=10&highlight=26"> 22q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614873"> Peroxisome biogenesis disorder 7B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614873"> 614873 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608666"> PEX26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608666"> 608666 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that this form of Zellweger syndrome (PBD1A) is caused by homozygous or compound heterozygous mutation in the PEX1 gene (<a href="/entry/602136">602136</a>) on chromosome 7q21.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Zellweger syndrome is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life (summary by <a href="#72" class="mim-tip-reference" title="Wanders, R. J. A. &lt;strong&gt;Metabolic and molecular basis of peroxisomal disorders: a review.&lt;/strong&gt; Am. J. Med. Genet. 126A: 355-375, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15098234/&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;15098234&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20661&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="15098234">Wanders, 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15098234" 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>'Zellweger syndrome' is the prototype of a large group of peroxisomal disorders, which can be classified into 2 main groups: (1) disorders of peroxisome biogenesis and (2) single peroxisomal enzyme deficiencies (see <a href="/entry/264470">264470</a>). The peroxisome biogenesis disorders (PBDs) fall into 4 main phenotypic classes. Three of them, Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD), have multiple complementation groups and form a spectrum of overlapping features, with the most severe being the Zellweger syndrome and the least severe infantile Refsum disease. The fourth group, rhizomelic chondrodysplasia punctata (RCDP1; <a href="/entry/215100">215100</a>), is a distinct PBD phenotype (summary by <a href="#38" class="mim-tip-reference" title="Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M., Hajra, A. K., Chen, G., Raymond, G., Liu, A., Gordon, D., Garnaas, K., Walton, D. S., Skjedal, O. H., Guggenheim, M. A., Jackson, L. G., Elias, E. R., Moser, H. W. &lt;strong&gt;Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.&lt;/strong&gt; J. Pediat. 127: 13-22, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7541833/&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;7541833&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(95)70250-4&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="7541833">Moser et al., 1995</a>, <a href="#72" class="mim-tip-reference" title="Wanders, R. J. A. &lt;strong&gt;Metabolic and molecular basis of peroxisomal disorders: a review.&lt;/strong&gt; Am. J. Med. Genet. 126A: 355-375, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15098234/&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;15098234&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20661&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="15098234">Wanders, 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15098234+7541833" 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>Heimler syndrome, a rare autosomal recessive disorder encompassing sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities, represents a discrete phenotypic entity at the mildest end of the PBD spectrum (<a href="#51" class="mim-tip-reference" title="Ratbi, I., Falkenberg, K. D., Sommen, M., Al-Sheqaih, N., Guaoua, S., Vandeweyer, G., Urquhart, J. E., Chandler, K. E., Williams, S. G., Roberts, N. A., El Alloussi, M., Black, G. C., and 19 others. &lt;strong&gt;Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6.&lt;/strong&gt; Am. J. Hum. Genet. 97: 535-545, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26387595/&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;26387595&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26387595[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/10.1016/j.ajhg.2015.08.011&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="26387595">Ratbi et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26387595" 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><strong><em>Genetic Heterogeneity of Zellweger Syndrome</em></strong></p><p>
Zellweger syndrome (denoted by the suffix 'A' in the symbol) is a genetically heterogeneous disorder and can be caused by mutation in any one of several genes, known as pexins, involved in peroxisome biogenesis. The pexin (PEX) genes encode proteins essential for the assembly of functional peroxisomes (summary by <a href="#15" class="mim-tip-reference" title="Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., Kiel, J. A. K. W., Kunau, W.-H., Lazarow, P. B., Mannaerts, G. P., Moser, H. W., Osumi, T., Rachubinski, R. A., Roscher, A., Subramani, S., Tabak, H. F., Tsukamoto, T., Valle, D., van der Klei, I., van Veldhoven, P. P., Veenhuis, M. &lt;strong&gt;A unified nomenclature for peroxisome biogenesis factors.&lt;/strong&gt; J. Cell Biol. 135: 1-3, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8858157/&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;8858157&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1083/jcb.135.1.1&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="8858157">Distel et al., 1996</a>). Forms of Zellweger syndrome include PBD1A, caused by mutation in the PEX1 gene on chromosome 7q21; PBD2A (<a href="/entry/214110">214110</a>), caused by mutation in the PEX5 (<a href="/entry/600414">600414</a>) gene on chromosome 12p13; PBD3A (<a href="/entry/614859">614859</a>), caused by mutation in the PEX12 (<a href="/entry/601758">601758</a>) gene on chromosome 17; PBD4A (<a href="/entry/614862">614862</a>), caused by mutation in the PEX6 (<a href="/entry/601498">601498</a>) gene on chromosome 6p21; PBD5A (<a href="/entry/614866">614866</a>), caused by mutation in the PEX2 (<a href="/entry/170993">170993</a>) gene on chromosome 8q21; PBD6A (<a href="/entry/614870">614870</a>), caused by mutation in the PEX10 (<a href="/entry/602859">602859</a>) gene on chromosome 1p36; PBD7A (<a href="/entry/614872">614872</a>), caused by mutation in the PEX26 (<a href="/entry/608666">608666</a>) gene on chromosome 22q11; PBD8A (<a href="/entry/614876">614876</a>), caused by mutation in the PEX16 (<a href="/entry/603360">603360</a>) gene on chromosome 11p12; PBD10A (<a href="/entry/614882">614882</a>), caused by mutation in the PEX3 (<a href="/entry/603164">603164</a>) gene on chromosome 6q23-q24; PBD11A (<a href="/entry/614883">614883</a>), caused by mutation in the PEX13 (<a href="/entry/601789">601789</a>) gene on chromosome 2p15; PBD12A (<a href="/entry/614886">614886</a>), caused by mutation in the PEX19 (<a href="/entry/600279">600279</a>) gene on chromosome 1q22; and PBD13A (<a href="/entry/614887">614887</a>), caused by mutation in the PEX14 gene (<a href="/entry/601791">601791</a>) on chromosome 1p36.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858157" 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>Mutation in the pexin genes also causes the less severe phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD); see PBD1B (<a href="/entry/601539">601539</a>) for a phenotypic description and discussion of genetic heterogeneity of these PBDs.</p><p>Heimler syndrome-1 (HMLR1; <a href="/entry/234580">234580</a>) and -2 (HMLR2; <a href="/entry/616617">616617</a>) are caused by mutation in the PEX1 and PEX6 genes, respectively.</p><p>The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; <a href="/entry/215100">215100</a>), and a PBD without rhizomelia (PBD9B; <a href="/entry/614879">614879</a>), are caused by mutation in the PEX7 gene (<a href="/entry/601757">601757</a>) on chromosome 6q22-q24.</p><p>In addition to the defects in peroxisome assembly, <a href="#15" class="mim-tip-reference" title="Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., Kiel, J. A. K. W., Kunau, W.-H., Lazarow, P. B., Mannaerts, G. P., Moser, H. W., Osumi, T., Rachubinski, R. A., Roscher, A., Subramani, S., Tabak, H. F., Tsukamoto, T., Valle, D., van der Klei, I., van Veldhoven, P. P., Veenhuis, M. &lt;strong&gt;A unified nomenclature for peroxisome biogenesis factors.&lt;/strong&gt; J. Cell Biol. 135: 1-3, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8858157/&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;8858157&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1083/jcb.135.1.1&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="8858157">Distel et al. (1996)</a> noted that peroxisomal disorders include a number of single peroxisomal enzyme deficiencies: X-linked adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>), acyl-coenzyme A oxidase deficiency (<a href="/entry/264470">264470</a>), DHAPAT deficiency (<a href="/entry/222765">222765</a>), alkyl-DHAP synthase deficiency (<a href="/entry/600121">600121</a>), glutaric aciduria type III (<a href="/entry/231690">231690</a>), classic Refsum disease (<a href="/entry/266500">266500</a>), hyperoxaluria type I (<a href="/entry/259900">259900</a>), and acatalasia (<a href="/entry/115500">115500</a>). A peroxisomal and mitochondrial fission defect results in a lethal encephalopathy (EMPF; <a href="/entry/614388">614388</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858157" 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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Before the nature of the mutations was known, the peroxisomal biogenesis disorders had historically been grouped according to complementation on the basis of cell fusion studies. Complementation groups were assigned numbers (Kennedy-Krieger Institute, Amsterdam University) or letters (Gifu University); various complementation groups proved to be genetically equivalent. <a href="#57" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Orii, T., Moser, A., Moser, H. W., Wanders, R. J. A. &lt;strong&gt;Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 52: 843-844, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7681622/&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;7681622&lt;/a&gt;]" pmid="7681622">Shimozawa et al. (1993)</a> provided a table comparing the complementation groups defined at Gifu University in Japan, Kennedy-Krieger Institute in Baltimore, and Amsterdam University in the Netherlands (<a href="#8" class="mim-tip-reference" title="Brul, S., Westerveld, A., Strijland, A., Wanders, R. J. A., Schram, A. W., Heymans, H. S. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M. &lt;strong&gt;Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions: a study using complementation analysis.&lt;/strong&gt; J. Clin. Invest. 81: 1710-1715, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2454948/&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;2454948&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113510&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="2454948">Brul et al., 1988</a>). They pointed out that no obvious relationship between genotype and phenotype was found; the clinical phenotype in a single complementation group could be Zellweger syndrome, neonatal adrenoleukodystrophy, or infantile Refsum disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7681622+2454948" 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>Individuals with PBDs of complementation group 1 (CG1, equivalent to CGE) have mutations in the PEX1 gene.</p>
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<p><a href="#6" class="mim-tip-reference" title="Bowen, P., Lee, C. S. N., Zellweger, H., Lindenberg, R. &lt;strong&gt;A familial syndrome of multiple congenital defects.&lt;/strong&gt; Bull. Johns Hopkins Hosp. 114: 402-414, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14169466/&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;14169466&lt;/a&gt;]" pmid="14169466">Bowen et al. (1964)</a> described 2 families, each with 2 sibs displaying an unusual malformation syndrome. Cardinal features were failure to thrive, absent or weak sucking and swallowing, finger flexion, congenital glaucoma, malformed ears, small mandible, heart malformations, enlarged clitoris, hypospadias, agenesis of the corpus callosum, and death at an early age. No parental consanguinity was demonstrated in either family, and no chromosomal abnormality was identified. <a href="#44" class="mim-tip-reference" title="Opitz, J. M., ZuRhein, G. M., Vitale, L., Shahidi, N. T., Howe, J. J., Chou, S. M., Shanklin, D. R., Sybers, H. D., Dood, A. R., Gerritsen, T. &lt;strong&gt;The Zellweger syndrome (cerebro-hepato-renal syndrome).&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(2): 144-160, 1969."None>Opitz et al. (1969)</a>, who described further cases, suggested that only 1 of the 2 sets of sibs reported by <a href="#6" class="mim-tip-reference" title="Bowen, P., Lee, C. S. N., Zellweger, H., Lindenberg, R. &lt;strong&gt;A familial syndrome of multiple congenital defects.&lt;/strong&gt; Bull. Johns Hopkins Hosp. 114: 402-414, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14169466/&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;14169466&lt;/a&gt;]" pmid="14169466">Bowen et al. (1964)</a> (the pair contributed by Zellweger) had the cerebrohepatorenal syndrome; however, in a review, <a href="#72" class="mim-tip-reference" title="Wanders, R. J. A. &lt;strong&gt;Metabolic and molecular basis of peroxisomal disorders: a review.&lt;/strong&gt; Am. J. Med. Genet. 126A: 355-375, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15098234/&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;15098234&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20661&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="15098234">Wanders (2004)</a> noted that both families had Zellweger syndrome. <a href="#44" class="mim-tip-reference" title="Opitz, J. M., ZuRhein, G. M., Vitale, L., Shahidi, N. T., Howe, J. J., Chou, S. M., Shanklin, D. R., Sybers, H. D., Dood, A. R., Gerritsen, T. &lt;strong&gt;The Zellweger syndrome (cerebro-hepato-renal syndrome).&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(2): 144-160, 1969."None>Opitz et al. (1969)</a> suggested the eponymic designation 'Zellweger syndrome,' and made the important observation that serum iron level and iron binding capacity were high in one well-studied case and may provide an easy method for diagnosis of this disorder. A defect in the placental iron transfer mechanism was postulated. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15098234+14169466" 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="#58" class="mim-tip-reference" title="Smith, D. W., Opitz, J. M., Inhorn, S. L. &lt;strong&gt;A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.&lt;/strong&gt; J. Pediat. 67: 617-624, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5832556/&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;5832556&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(65)80433-4&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="5832556">Smith et al. (1965)</a> described a Caucasian brother and sister who died at 8 and 10 weeks of age with aberrant development of the skull, face, ears, eyes, hands and feet, polycystic kidneys with adequate functional renal parenchyma, and intrahepatic biliary dysgenesis. Jaundice developed before death. The karyotype was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5832556" 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="#45" class="mim-tip-reference" title="Passarge, E., McAdams, A. J. &lt;strong&gt;Cerebro-hepato-renal syndrome: a newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys.&lt;/strong&gt; J. Pediat. 71: 691-702, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4383264/&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;4383264&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(67)80205-1&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="4383264">Passarge and McAdams (1967)</a> described 5 sisters out of a sibship of 13 with severe, generalized hypotonia and absent Moro response, characteristic craniofacial abnormalities, cortical renal cysts, and hepatomegaly. The brain in 2, studied histologically, showed sudanophilic leukodystrophy. The authors considered this to be the same entity as that reported by <a href="#58" class="mim-tip-reference" title="Smith, D. W., Opitz, J. M., Inhorn, S. L. &lt;strong&gt;A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.&lt;/strong&gt; J. Pediat. 67: 617-624, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5832556/&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;5832556&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(65)80433-4&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="5832556">Smith et al. (1965)</a> and perhaps the same as that described by <a href="#6" class="mim-tip-reference" title="Bowen, P., Lee, C. S. N., Zellweger, H., Lindenberg, R. &lt;strong&gt;A familial syndrome of multiple congenital defects.&lt;/strong&gt; Bull. Johns Hopkins Hosp. 114: 402-414, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14169466/&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;14169466&lt;/a&gt;]" pmid="14169466">Bowen et al. (1964)</a>. They proposed 'cerebrohepatorenal syndrome' as an appropriate designation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4383264+5832556+14169466" 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>Chondral calcification, most marked in the patellas, was a feature pointed out by <a href="#50" class="mim-tip-reference" title="Poznanski, A. K., Nosanchuk, J. S., Baublis, J., Holt, J. F. &lt;strong&gt;The cerebro-hepato-renal syndrome (CHRS): (Zellweger&#x27;s syndrome).&lt;/strong&gt; Am. J. Roentgen. Radium Ther. Nucl. Med. 109: 313-322, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5420572/&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;5420572&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2214/ajr.109.2.313&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="5420572">Poznanski et al. (1970)</a>. The change is somewhat like that of chondrodystrophia calcificans congenita. <a href="#46" class="mim-tip-reference" title="Patton, R. G., Christie, D. L., Smith, D. W., Beckwith, J. B. &lt;strong&gt;Cerebro-hepato-renal syndrome of Zellweger.&lt;/strong&gt; Am. J. Dis. Child. 124: 840-844, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4639219/&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;4639219&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1972.02110180042005&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="4639219">Patton et al. (1972)</a> described 2 cases with the additional feature of thymic anomalies. Abnormalities of iron metabolism were not present. <a href="#67" class="mim-tip-reference" title="Volpe, J. J., Adams, R. D. &lt;strong&gt;Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration.&lt;/strong&gt; Acta Neuropath. 20: 175-198, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5043999/&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;5043999&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00686900&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="5043999">Volpe and Adams (1972)</a> observed a defect in neuronal migration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5420572+4639219+5043999" 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="#36" class="mim-tip-reference" title="Mathis, R. K., Lott, I. T., Szczepanik, P., Watkins, J. B. &lt;strong&gt;Cholestasis in the cerebro-hepato-renal (CHR) syndrome. (Abstract)&lt;/strong&gt; Pediat. Res. 12: 439, 1978."None>Mathis et al. (1978)</a> observed cholestasis in the cerebrohepatorenal syndrome, and electron microscopy of liver biopsy showed mitochondrial abnormalities Pathologic findings were presented by <a href="#18" class="mim-tip-reference" title="Friedman, A., Bethzhold, J., Hong, R., Gilbert, E. F., Viseskul, C., Opitz, J. M. &lt;strong&gt;Clinicopathologic conference: a three-month-old infant with failure to thrive, hepatomegaly, and neurological impairment.&lt;/strong&gt; Am. J. Med. Genet. 7: 171-186, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7468646/&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;7468646&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320070210&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="7468646">Friedman et al. (1980)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7468646" 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>Minor opacities in the ocular lenses in heterozygotes were described by <a href="#26" class="mim-tip-reference" title="Hittner, H. M., Kretzer, F. L., Mehta, R. S. &lt;strong&gt;Zellweger syndrome: lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes.&lt;/strong&gt; Arch. Ophthal. 99: 1977-1982, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7295145/&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;7295145&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1981.03930020853008&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="7295145">Hittner et al. (1981)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7295145" 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="Bleeker-Wagemakers, E. M., Oorthuys, J. W. E., Wanders, R. J. A., Schutgens, R. B. H. &lt;strong&gt;Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome.&lt;/strong&gt; Clin. Genet. 29: 160-164, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3955868/&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;3955868&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1986.tb01242.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="3955868">Bleeker-Wagemakers et al. (1986)</a> reported a 13-year-old girl with clinical and biochemical features consistent with Zellweger syndrome. She had severe mental retardation, tapetoretinal degeneration, and sensorineural hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3955868" 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="#75" class="mim-tip-reference" title="Zung, A., Mogilner, B. M., Nissani, R., Appelman, Z., Gelman De Kohan, Z. &lt;strong&gt;Occurrence of cerebrohepatorenal (Zellweger) syndrome in the Karaite community in Israel: a genetic hypothesis.&lt;/strong&gt; Israel J. Med. Sci. 26: 570-572, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2249933/&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;2249933&lt;/a&gt;]" pmid="2249933">Zung et al. (1990)</a> suggested that this disorder was unusually frequent among Karaites in Israel. In addition to dysmyelination, there was also neuronal migration derangements resulting in microgyria/pachygyria, heterotopias, and dysplasias of the inferior olive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2249933" 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="#65" class="mim-tip-reference" title="van Woerden, C. S., Groothoff, J. W., Wijburg, F. A., Duran, M., Wanders, R. J. A., Barth, P. G., Poll-The, B. T. &lt;strong&gt;High incidence of hyperoxaluria in generalized peroxisomal disorders.&lt;/strong&gt; Molec. Genet. Metab. 88: 346-350, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16621644/&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;16621644&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2006.03.004&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="16621644">Van Woerden et al. (2006)</a> reviewed the medical charts of 31 Dutch Zellweger spectrum disorder patients with prolonged survival (greater than 1 year). Urinary oxylate excretion was assessed in 23 and glycolate in 22 patients. Hyperoxaluria was present in 19 (83%) and hyperglycolic aciduria in 14 (64%). Pyridoxine treatment in 6 patients did not reduce the oxalate excretion, as in some patients with primary hyperoxaluria type 1 (<a href="/entry/259900">259900</a>). Renal involvement with urolithiasis and nephrocalcinosis was present in 5, of which 1 developed end-stage renal disease. <a href="#65" class="mim-tip-reference" title="van Woerden, C. S., Groothoff, J. W., Wijburg, F. A., Duran, M., Wanders, R. J. A., Barth, P. G., Poll-The, B. T. &lt;strong&gt;High incidence of hyperoxaluria in generalized peroxisomal disorders.&lt;/strong&gt; Molec. Genet. Metab. 88: 346-350, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16621644/&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;16621644&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2006.03.004&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="16621644">Van Woerden et al. (2006)</a> concluded that the presence of hyperoxaluria, potentially leading to severe renal involvement, was statistically significantly correlated with the severity of neurologic dysfunction, and that Zellweger spectrum disorder patients should be screened by urinalysis for hyperoxaluria and renal ultrasound for nephrocalcinosis in order to take timely measures to prevent renal insufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16621644" 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="#35" class="mim-tip-reference" title="Majewski, J., Wang, Z., Lopez, I., Al Humaid, S., Ren, H., Racine, J., Bazinet, A., Mitchel, G., Braverman, N., Koenekoop, R. K. &lt;strong&gt;A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.&lt;/strong&gt; J. Med. Genet. 48: 593-596, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21862673/&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;21862673&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2011-100288&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="21862673">Majewski et al. (2011)</a> reported a patient (patient 2) with PBD1A who presented with Leber congenital amaurosis (see <a href="/entry/204000">204000</a>) at 9 months of age. At 20 months of age she had developmental delay, hypotonia, and seizures. Biochemical testing demonstrated elevated C26:0 and C22/C26 very long chain fatty acids and elevated plasma phytanic acid. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21862673" 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><a href="#17" class="mim-tip-reference" title="Erdem, G., Oran, O., Kotiloglu, E., Kale, G., Topcu, M., Renda, Y. &lt;strong&gt;Intestinal lymphangiectasia in a patient with Zellweger cerebrohepatorenal syndrome.&lt;/strong&gt; Am. J. Med. Genet. 58: 152-154, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8533807/&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;8533807&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320580212&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="8533807">Erdem et al. (1995)</a> reported the autopsy finding of intestinal lymphangiectasia in a Turkish 11-day-old girl whose parents were first cousins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8533807" 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>Very-long-chain fatty acids, which are usually oxidized in peroxisomes, were found to accumulate in cultured cells of patients with Zellweger syndrome (<a href="#7" class="mim-tip-reference" title="Brown, F. R., III, McAdams, A. J., Cummins, J. W., Konkol, R., Singh, I., Moser, A. B., Moser, H. W. &lt;strong&gt;Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.&lt;/strong&gt; Johns Hopkins Med. J. 151: 344-351, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7176294/&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;7176294&lt;/a&gt;]" pmid="7176294">Brown et al., 1982</a>)--a feature shared by neonatal adrenoleukodystrophy (see <a href="/entry/601539">601539</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7176294" 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="Arneson, D. W., Ward, J. C. &lt;strong&gt;Pipecolic acid (PA) loading studies on an infant with cerebro-hepato-renal syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 33: 35A, 1981."None>Arneson and Ward (1981)</a> studied hyperpipecolic acid in the Zellweger syndrome. <a href="#22" class="mim-tip-reference" title="Govaerts, L., Monnens, L., Tegelaers, W., Trijbels, F., van Raay-Selten, A. &lt;strong&gt;Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.&lt;/strong&gt; Europ. J. Pediat. 139: 125-128, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151832/&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;7151832&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00441495&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="7151832">Govaerts et al. (1982)</a> reported observations on 16 patients (13 male, 3 female), including 3 pairs of sibs. Ten died before the age of 8 months, and 5 survived beyond age 2 years. Consistent findings were elevated pipecolic acid in serum and cerebrospinal fluid, abnormality of bile acids, and increased urinary excretion of p-OH-phenyl-lactate. Although excretion of pipecolic acid in the urine was not always elevated, the DL-pipecolic acid loading test was always abnormal. They authors concluded that the basic defect was absence or functional disturbance of peroxisomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7151832" 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="#25" class="mim-tip-reference" title="Heymans, H. S. A., Schutgens, R. B. H., Tan, R., van den Bosch, H., Borst, P. &lt;strong&gt;Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).&lt;/strong&gt; Nature 306: 69-70, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6633659/&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;6633659&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/306069a0&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="6633659">Heymans et al. (1983)</a> showed that tissues of 5 infants who died with Zellweger syndrome contained less than 10% of the normal levels of phosphatidylethanolamine plasmalogen, a major phospholipid of cell membranes. Key enzymes in the synthesis of plasmalogens are known to be located exclusively in the peroxisomes. <a href="#39" class="mim-tip-reference" title="Moser, A. E., Singh, I., Brown, F. R., III, Solish, G. I., Kelley, R. I., Benke, P. J., Moser, H. W. &lt;strong&gt;The cerebrohepatorenal (Zellweger) syndrome: increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.&lt;/strong&gt; New Eng. J. Med. 310: 1141-1146, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6709009/&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;6709009&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198405033101802&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="6709009">Moser et al. (1984)</a> demonstrated a 5-fold or greater increase of very-long-chain fatty acid levels, particularly hexacosanoic acid (C26:0) and hexacosenoic acid (C26:1), in plasma and cultured skin fibroblasts in 35 patients. Similar findings in cultured amniocytes permitted prenatal diagnosis. Oxidation of very-long-chain fatty acids, which normally takes place in peroxisomes, was impaired in homogenates of cultured skin fibroblasts and amniocytes. These findings extended the observation that the Zellweger syndrome is a peroxisomal disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6633659+6709009" 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="#12" class="mim-tip-reference" title="Dancis, J., Hutzler, J. &lt;strong&gt;The significance of hyperpipecolatemia in Zellweger syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 38: 707-711, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3087161/&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;3087161&lt;/a&gt;]" pmid="3087161">Dancis and Hutzler (1986)</a> concluded that hyperpipecolatemia develops postpartum; that plasma pipecolic acid concentrations may not be diagnostic early in life; and that the hyperpipecolatemia plays no etiologic role in the major manifestations of Zellweger disease. Measurements of plasma pipecolic acid in familial hyperlysinemia demonstrated that considerable increases in this substance could be tolerated without evident clinical effect. Pipecolic acid is a minor degradative product of lysine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3087161" 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="#59" class="mim-tip-reference" title="Sturk, A., Schaap, M. C. L., ten Cate, J. W., Heymans, H. S. A., Schutgens, R. B. H., Przyrembel, H., Borst, P. &lt;strong&gt;Platelet-activating factor: mediator of the third pathway of platelet aggregation? A study in three patients with deficient platelet-activating factor synthesis.&lt;/strong&gt; J. Clin. Invest. 79: 344-350, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3805272/&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;3805272&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI112818&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="3805272">Sturk et al. (1987)</a> found that platelet-activating factor (PAF) was absent in 2 Zellweger patients and severely reduced in a third. In all 3 patients, however, the thrombin-induced third mechanism of platelet aggregation was present, indicating that PAF may not be the mediator of the third pathway. PAF synthesis has been reported from stimulation of a large diversity of cell types. PAF is an alkoxyether like the plasmalogens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3805272" 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="Aikawa, J., Chen, W. W., Kelley, R. I., Tada, K., Moser, H. W., Chen, G. L. &lt;strong&gt;Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts.&lt;/strong&gt; Proc. Nat. Acad. Sci. 88: 10084-10088, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1946426/&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;1946426&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.88.22.10084&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="1946426">Aikawa et al. (1991)</a> presented evidence for the existence of low-density catalase-containing particles in both normal and Zellweger syndrome fibroblasts. Thus, catalase is not free in the cytosol of Zellweger syndrome fibroblasts as commonly thought, but in particles (W particles). <a href="#1" class="mim-tip-reference" title="Aikawa, J., Chen, W. W., Kelley, R. I., Tada, K., Moser, H. W., Chen, G. L. &lt;strong&gt;Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts.&lt;/strong&gt; Proc. Nat. Acad. Sci. 88: 10084-10088, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1946426/&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;1946426&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.88.22.10084&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="1946426">Aikawa et al. (1991)</a> found that L-alpha-hydroxyacid oxidase, another peroxisomal matrix enzyme, is also present in W particles derived from normal and Zellweger syndrome fibroblasts. <a href="#37" class="mim-tip-reference" title="Mayatepek, E., Lehmann, W.-D., Fauler, J., Tsikas, D., Frolich, J. C., Schutgens, R. B. H., Wanders, R. J. A., Keppler, D. &lt;strong&gt;Impaired degradation of leukotrienes in patients with peroxisome deficiency disorders.&lt;/strong&gt; J. Clin. Invest. 91: 881-888, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8450067/&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;8450067&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI116309&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="8450067">Mayatepek et al. (1993)</a> found that urinary excretion of leukotriene E4 (LTE4) and N-acetyl-LTE4, relative to creatinine, was increased more than 10-fold in 8 patients with Zellweger syndrome in comparison to healthy infants. The increased levels of these biologically active, proinflammatory mediators might be of pathophysiologic significance in this disorder. Furthermore, the pronounced urinary excretion of omega-carboxy-LTE4, omega-carboxy-LTB4, and LTB4 may be of diagnostic value. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8450067+1946426" 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>By administering tritiated prostaglandin F(2-alpha) to an infant with Zellweger syndrome, <a href="#14" class="mim-tip-reference" title="Diczfalusy, U., Kase, B. F., Alexson, S. E. H., Bjorkhem, I. &lt;strong&gt;Metabolism of prostaglandin F(2-alpha) in Zellweger syndrome: peroxisomal beta-oxidation is of major importance for in vivo degradation of prostaglandins in humans.&lt;/strong&gt; J. Clin. Invest. 88: 978-984, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1885782/&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;1885782&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI115401&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="1885782">Diczfalusy et al. (1991)</a> found that the patient excreted considerably less polar metabolites of prostaglandin in the urine than did control subjects. The major urinary metabolite found in control subjects was almost absent in the urine from the Zellweger patient. The study indicated that peroxisomal beta-oxidation is of major importance for in vivo chain shortening of prostaglandins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1885782" 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><strong><em>Complementation Studies</em></strong></p><p>
<a href="#8" class="mim-tip-reference" title="Brul, S., Westerveld, A., Strijland, A., Wanders, R. J. A., Schram, A. W., Heymans, H. S. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M. &lt;strong&gt;Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions: a study using complementation analysis.&lt;/strong&gt; J. Clin. Invest. 81: 1710-1715, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2454948/&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;2454948&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113510&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="2454948">Brul et al. (1988)</a> used complementation analysis after somatic cell fusion to study the genetic relationships among various disorders with simultaneous impairment of several peroxisomal functions, including several forms of Zellweger syndrome, rhizomelic chondrodysplasia punctata (see <a href="/entry/215100">215100</a>), infantile Refsum disease, and neonatal adrenoleukodystrophy. As an index of complementation they used the activity of acyl-coenzyme A:dihydroxyacetonephosphate acyltransferase, which is deficient in these diseases. At least 5 complementation groups were identified, indicating marked genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2454948" 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="#47" class="mim-tip-reference" title="Poll-The, B. T., Skjeldal, O. H., Stokke, O., Poulos, A., Demaugre, F., Saudubray, J.-M. &lt;strong&gt;Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.&lt;/strong&gt; Hum. Genet. 81: 175-181, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2463966/&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;2463966&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00293897&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="2463966">Poll-The et al. (1989)</a> did complementation studies using the production of (14)CO(2) from exogenous labeled phytanic acid in fibroblast monolayers from patients with classic Refsum disease and peroxisomal disorders. Absence of complementation was found between Zellweger syndrome and infantile Refsum disease after polyethylene glycol fusion of cells from patients with the 2 disorders. Classic Refsum disease, rhizomelic chondrodysplasia punctata, and neonatal adrenoleukodystrophy all complemented one another and complemented Zellweger syndrome or infantile Refsum disease lines. Four complementation groups were recognized, reflecting the involvement of at least 4 genes in phytanic acid alpha-oxidation, including those with regulatory and assembly roles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2463966" 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="pathogenesis" class="mim-anchor"></a>
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Pathogenesis</strong>
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<p><a href="#21" class="mim-tip-reference" title="Goldfischer, S., Moore, C. L., Johnson, A. B., Spiro, A. J., Valsamis, M. P., Wisniewski, H. K., Ritch, R. H., Norton, W. T., Rapin, I., Gartner, L. M. &lt;strong&gt;Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.&lt;/strong&gt; Science 182: 62-64, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4730055/&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;4730055&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.182.4107.62&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="4730055">Goldfischer et al. (1973)</a> presented evidence of abnormality in peroxisomes and mitochondria, the 2 organelles principally concerned with cellular respiration. <a href="#66" class="mim-tip-reference" title="Versmold, H. T., Bremer, H. J., Herzog, V., Siegel, G., Bassewitz, D. B., Irle, U., Voss, H., Lombeck, I., Brauser, B. &lt;strong&gt;A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis.&lt;/strong&gt; Europ. J. Pediat. 124: 261-275, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/844460/&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;844460&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00441934&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="844460">Versmold et al. (1977)</a> found absence of peroxisomes in the liver of 3 patients with Zellweger syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4730055+844460" 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="#13" class="mim-tip-reference" title="Danks, D. M., Tippett, P., Adams, C., Campbell, P. &lt;strong&gt;Cerebro-hepato-renal syndrome of Zellweger: a report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism.&lt;/strong&gt; J. Pediat. 86: 382-387, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1113225/&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;1113225&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(75)80967-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="1113225">Danks et al. (1975)</a> found elevated levels of pipecolic acid in blood and urine and suggested that a defect in metabolism of pipecolic acid might be at the root of the disorder. Piperidine, a product of pipecolic acid, is involved in hibernation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1113225" 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 findings of <a href="#24" class="mim-tip-reference" title="Hanson, R. F., Szczepanik-VanLeeuwan, P., Williams, G. C., Grabowski, G., Sharp, H. L. &lt;strong&gt;Defects of the bile acid synthesis in Zellweger&#x27;s syndrome.&lt;/strong&gt; Science 203: 1107-1108, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/424737/&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;424737&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.424737&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="424737">Hanson et al. (1979)</a> supported the hypothesis of defective mitochondrial oxidation in the Zellweger syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=424737" 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="#22" class="mim-tip-reference" title="Govaerts, L., Monnens, L., Tegelaers, W., Trijbels, F., van Raay-Selten, A. &lt;strong&gt;Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.&lt;/strong&gt; Europ. J. Pediat. 139: 125-128, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151832/&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;7151832&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00441495&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="7151832">Govaerts et al. (1982)</a> concluded that the basic defect was absence or functional disturbance of peroxisomes, based on the biochemical profiles of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7151832" 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="#54" class="mim-tip-reference" title="Santos, M. J., Ojeda, J. M., Garrido, J., Leighton, F. &lt;strong&gt;Peroxisomal organization in normal and cerebrohepatorenal (Zellweger) syndrome fibroblasts.&lt;/strong&gt; Proc. Nat. Acad. Sci. 82: 6556-6560, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2995971/&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;2995971&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.82.19.6556&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="2995971">Santos et al. (1985)</a> showed that Zellweger fibroblasts also lacked peroxisomes. Furthermore, catalase and fatty acyl-CoA oxidase, although present, behaved as cytosolic enzymes. They interpreted these findings to indicate that the defect in Zellweger syndrome resides in the assembly of the peroxisomal constituents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2995971" 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>According to <a href="#40" class="mim-tip-reference" title="Moser, H. W. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore, Md. 3/1/1986."None>Moser (1986)</a>, 5 enzymatic defects had been demonstrated or deduced in Zellweger syndrome, although none appeared to be the primary defect. The 5 were dihydroxyacetone phosphate acyltransferase (involved in synthesis of plasmalogen); peroxisomal fatty acid beta-oxidation (same as in adrenoleukodystrophy; <a href="/entry/300100">300100</a>); phytanic acid oxidase (same as in Refsum syndrome; <a href="/entry/266500">266500</a>); degradation of pipecolic acid; and processing of bile acid intermediates.</p><p>In reporting accumulation of very-long-chain fatty acids in these disorders, <a href="#49" class="mim-tip-reference" title="Poulos, A., Singh, H., Paton, B., Sharp, P., Derwas, N. &lt;strong&gt;Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger&#x27;s syndrome, adrenoleukodystrophy and Refsum&#x27;s disease variants.&lt;/strong&gt; Clin. Genet. 29: 397-408, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2427264/&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;2427264&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1986.tb00511.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="2427264">Poulos et al. (1986)</a> commented that in Zellweger syndrome and possibly in infantile Refsum syndrome (see <a href="/entry/601539">601539</a>), the defect in beta-oxidation may be secondary to a primary defect in the structure and/or function of peroxisomes, while in X-linked adrenoleukodystrophy it resides in a pathway specific for oxidation of very-long-chain fatty acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2427264" 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="#71" class="mim-tip-reference" title="Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Schutgens, R. B. H., Heikoop, J., van den Bosch, H., Schram, A. W., Tager, J. M. &lt;strong&gt;Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders.&lt;/strong&gt; J. Clin. Invest. 80: 1778-1783, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3680527/&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;3680527&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113271&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="3680527">Wanders et al. (1987)</a> presented evidence that peroxisomes contain at least 2 fatty acid-activating enzyme systems, one that activates long chain fatty acids such as palmitate, and a second that is responsible for the activation of very-long-chain fatty acids such as lignocerate and cerotate. The peroxisomal oxidation of all 3 fatty acid substrates was markedly deficient in fibroblasts from patients with Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease, in accordance with the deficiency of peroxisomes in these patients. In fibroblasts from patients with X-linked adrenoleukodystrophy, the peroxisomal oxidation of lignocerate and cerotate was impaired, but not that of palmitate. Very long chain fatty acid synthetase was present not only in peroxisomes but also in microsomes. The evidence led <a href="#71" class="mim-tip-reference" title="Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Schutgens, R. B. H., Heikoop, J., van den Bosch, H., Schram, A. W., Tager, J. M. &lt;strong&gt;Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders.&lt;/strong&gt; J. Clin. Invest. 80: 1778-1783, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3680527/&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;3680527&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113271&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="3680527">Wanders et al. (1987)</a> to conclude that X-linked adrenoleukodystrophy (<a href="/entry/300100">300100</a>) was caused by deficiency of peroxisomal very-long-chain fatty acyl-CoA synthetase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3680527" 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="#53" class="mim-tip-reference" title="Santos, M. J., Imanaka, T., Shio, H., Small, G. M., Lazarow, P. B. &lt;strong&gt;Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly.&lt;/strong&gt; Science 239: 1536-1538, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3281254/&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;3281254&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.3281254&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="3281254">Santos et al. (1988)</a> demonstrated that although peroxisomes were apparently missing in Zellweger syndrome, peroxisomal membrane proteins could be identified by immunofluorescence microscopy. In control fibroblasts, peroxisomes appeared as small dots. In Zellweger fibroblasts, the peroxisomal membrane proteins were located in unusual empty membrane structures of larger size. <a href="#53" class="mim-tip-reference" title="Santos, M. J., Imanaka, T., Shio, H., Small, G. M., Lazarow, P. B. &lt;strong&gt;Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly.&lt;/strong&gt; Science 239: 1536-1538, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3281254/&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;3281254&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.3281254&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="3281254">Santos et al. (1988)</a> suggested, therefore, that the primary defect was in the mechanism for import of matrix proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3281254" 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>Pristanic acid is the product of the first step in the degradation of phytanic acid. Both phytanic acid and pristanic acid accumulate in Zellweger syndrome. <a href="#69" class="mim-tip-reference" title="Wanders, R. J. A., ten Brink, H. J., van Roermund, C. W. T., Schutgens, R. B. H., Tager, J. M., Jakobs, C. &lt;strong&gt;Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 172: 490-495, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2241949/&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;2241949&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0006-291x(90)90699-n&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="2241949">Wanders et al. (1990)</a> demonstrated that the cause of the accumulation was deficiency of pristanoyl-CoA oxidase. Thus, the previously held view that pristanic acid beta-oxidation occurs in mitochondria was disproved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2241949" 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="diagnosis" class="mim-anchor"></a>
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Diagnosis</strong>
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<p><a href="#74" class="mim-tip-reference" title="Wilson, G. N., Holmes, R. G., Custer, J., Lipkowitz, J. L., Stover, J., Datta, N., Hajra, A. &lt;strong&gt;Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.&lt;/strong&gt; Am. J. Med. Genet. 24: 69-82, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3706414/&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;3706414&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320240109&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="3706414">Wilson et al. (1986)</a> used measurement of dihydroxyacetone phosphate acyltransferase, a peroxisomal enzyme, as a diagnostic method in Zellweger syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3706414" 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><strong><em>Prenatal Diagnosis</em></strong></p><p>
<a href="#33" class="mim-tip-reference" title="Lazarow, P. B., Small, G. M., Santos, M., Shio, H., Moser, A., Moser, H., Esterman, A., Black, V., Dancis, J. &lt;strong&gt;Zellweger syndrome amniocytes: morphological appearance and a simple sedimentation method for prenatal diagnosis.&lt;/strong&gt; Pediat. Res. 24: 63-67, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3412850/&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;3412850&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/00006450-198807000-00016&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="3412850">Lazarow et al. (1988)</a> showed that in homogenates of Zellweger syndrome amniocytes, catalase remains in the supernatant on sedimentation, whereas in normal cells, catalase sediments with the peroxisomes. The difference was unambiguous and reproducible and provided a simple method for prenatal diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3412850" 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="cytogenetics" class="mim-anchor"></a>
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<strong>Cytogenetics</strong>
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<p><a href="#42" class="mim-tip-reference" title="Naritomi, K., Hyakuna, N., Suzuki, Y., Orii, T., Hirayama, K. &lt;strong&gt;Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7.&lt;/strong&gt; Hum. Genet. 80: 201-202, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3169748/&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;3169748&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00702873&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="3169748">Naritomi et al. (1988)</a> found a microdeletion of chromosome 7 in an infant with Zellweger syndrome. The deletion involved 7q11.12-q11.23. They suggested that the Zellweger gene is situated in this region. <a href="#43" class="mim-tip-reference" title="Naritomi, K., Izumikawa, Y., Ohshiro, S., Yoshida, K., Shimozawa, N., Suzuki, Y., Orii, T., Hirayama, K. &lt;strong&gt;Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7.&lt;/strong&gt; Hum. Genet. 84: 79-80, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2606480/&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;2606480&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00210677&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="2606480">Naritomi et al. (1989)</a> reported a second case of Zellweger syndrome with a rearrangement of chromosome 7: a pericentric inversion, inv(7)(p12q11.23). They suggested that this confirms the assignment to 7q11, probably 7q11.23. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3169748+2606480" 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><a href="#38" class="mim-tip-reference" title="Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M., Hajra, A. K., Chen, G., Raymond, G., Liu, A., Gordon, D., Garnaas, K., Walton, D. S., Skjedal, O. H., Guggenheim, M. A., Jackson, L. G., Elias, E. R., Moser, H. W. &lt;strong&gt;Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.&lt;/strong&gt; J. Pediat. 127: 13-22, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7541833/&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;7541833&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(95)70250-4&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="7541833">Moser et al. (1995)</a> found that among the 61 patients in complementation group 1 (corresponding to Netherlands group 2 and Japan group E), 56% had the Zellweger syndrome phenotype, 26% had the phenotype of neonatal adrenoleukodystrophy (NALD; see <a href="/entry/601539">601539</a>), 11% had the phenotype of infantile Refsum disease (IRD; see <a href="/entry/601539">601539</a>), and 43 patients (25%) had phenotype of rhizomelic chondrodysplasia (RCDP1; <a href="/entry/215100">215100</a>). A variant phenotype was observed in 7% of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7541833" 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="#52" class="mim-tip-reference" title="Reuber, B. E., Germain-Lee, E., Collins, C. S., Morrell, J. C., Ameritunga, R., Moser, H. W., Valle, D., Gould, S. J. &lt;strong&gt;Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.&lt;/strong&gt; Nature Genet. 17: 445-448, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9398847/&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;9398847&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1297-445&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="9398847">Reuber et al. (1997)</a> found that expression of human PEX1 restored peroxisomal protein import in fibroblasts from 30 patients with peroxisomal biogenesis disorders of complementation group 1 (CG1). Additionally, they detected PEX1 mutations in multiple CG1 probands (see, e.g., <a href="/entry/602136#0001">602136.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398847" 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="#48" class="mim-tip-reference" title="Portsteffen, H., Beyer, A., Becker, E., Epplen, C., Pawlak, A., Kunau, W.-H., Dodt, G. &lt;strong&gt;Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.&lt;/strong&gt; Nature Genet. 17: 449-452, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9398848/&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;9398848&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1297-449&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="9398848">Portsteffen et al. (1997)</a> identified 3 mutant alleles in CG1 patients. One of these, a G-to-A transition in exon 15 resulting in G843D (<a href="/entry/602136#0001">602136.0001</a>), was found in homozygosity in 1 patient and heterozygosity in another. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398848" 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="#61" class="mim-tip-reference" title="Tamura, S., Okumoto, K., Toyama, R., Shimozawa, N., Tsukamoto, T., Suzuki, Y., Osumi, T., Kondo, N., Fujiki, Y. &lt;strong&gt;Human PEX1 cloned by functional complementation in a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.&lt;/strong&gt; Proc. Nat. Acad. Sci. 95: 4350-4355, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9539740/&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;9539740&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=9539740[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/10.1073/pnas.95.8.4350&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="9539740">Tamura et al. (1998)</a> demonstrated that human PEX1 expression restored peroxisomal protein import in fibroblasts from 3 patients with Zellweger syndrome and neonatal adrenoleukodystrophy of complementation group 1, which is the peroxisome biogenesis disorder (PBD) of highest incidence. <a href="#61" class="mim-tip-reference" title="Tamura, S., Okumoto, K., Toyama, R., Shimozawa, N., Tsukamoto, T., Suzuki, Y., Osumi, T., Kondo, N., Fujiki, Y. &lt;strong&gt;Human PEX1 cloned by functional complementation in a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.&lt;/strong&gt; Proc. Nat. Acad. Sci. 95: 4350-4355, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9539740/&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;9539740&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=9539740[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/10.1073/pnas.95.8.4350&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="9539740">Tamura et al. (1998)</a> found that a patient with Zellweger syndrome was a compound heterozygote for 2 inactivating mutations of the PEX1 gene (<a href="/entry/602136#0002">602136.0002</a>, <a href="/entry/602136#0003">602136.0003</a>). The cDNAs corresponding to these PEX1 mutations were defective in peroxisome-restoring activity when expressed in the patient's fibroblasts as well as in ZP107 cells. This method of identifying PEX1 cDNA complemented that used by <a href="#52" class="mim-tip-reference" title="Reuber, B. E., Germain-Lee, E., Collins, C. S., Morrell, J. C., Ameritunga, R., Moser, H. W., Valle, D., Gould, S. J. &lt;strong&gt;Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.&lt;/strong&gt; Nature Genet. 17: 445-448, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9398847/&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;9398847&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1297-445&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="9398847">Reuber et al. (1997)</a> and <a href="#48" class="mim-tip-reference" title="Portsteffen, H., Beyer, A., Becker, E., Epplen, C., Pawlak, A., Kunau, W.-H., Dodt, G. &lt;strong&gt;Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.&lt;/strong&gt; Nature Genet. 17: 449-452, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9398848/&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;9398848&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1297-449&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="9398848">Portsteffen et al. (1997)</a>, who isolated the human PEX1 gene by a homology search of a human EST database using a yeast PEX1 sequence. All 3 studies demonstrated unequivocally that PEX1 is the causative gene for complementation group 1 peroxisomal disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9398847+9398848+9539740" 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 patient (patient 2) with PBD1A, <a href="#35" class="mim-tip-reference" title="Majewski, J., Wang, Z., Lopez, I., Al Humaid, S., Ren, H., Racine, J., Bazinet, A., Mitchel, G., Braverman, N., Koenekoop, R. K. &lt;strong&gt;A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.&lt;/strong&gt; J. Med. Genet. 48: 593-596, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21862673/&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;21862673&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2011-100288&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="21862673">Majewski et al. (2011)</a> identified compound heterozygous mutations in the PEX1 gene (G843D, <a href="/entry/602136#0001">602136.0001</a>; c.2098insT, <a href="/entry/602136#0011">602136.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21862673" 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><strong><em>Reviews</em></strong></p><p>
<a href="#60" class="mim-tip-reference" title="Subramani, S. &lt;strong&gt;PEX genes on the rise.&lt;/strong&gt; Nature Genet. 15: 331-333, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9090374/&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;9090374&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0497-331&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="9090374">Subramani (1997)</a> summarized the progress in identifying PEX genes responsible for human genetic diseases. <a href="#73" class="mim-tip-reference" title="Waterham, H.R., Cregg, J.M. &lt;strong&gt;Peroxisome biogenesis.&lt;/strong&gt; BioEssays 19: 57-66, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9008417/&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;9008417&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/bies.950190110&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="9008417">Waterham and Cregg (1997)</a> reviewed the current understanding of peroxisome biogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9090374+9008417" 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="#16" class="mim-tip-reference" title="Ebberink, M. S., Mooijer, P. A. W., Gootjes, J., Koster, J., Wanders, R. J. A., Waterham, H. R. &lt;strong&gt;Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.&lt;/strong&gt; Hum. Mutat. 32: 59-69, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21031596/&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;21031596&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.21388&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="21031596">Ebberink et al. (2011)</a> reported the results of genetic complementation studies in more than 600 cell lines from patients with a Zellweger syndrome spectrum disorder. They provided an overview of all mutations identified in these cell lines as well as previously reported mutations in respective PEX genes. No novel genetic complementation groups were identified, suggesting that all PEX gene defects resulting in peroxisome deficiency are known. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21031596" 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>Using gene targeting, <a href="#34" class="mim-tip-reference" title="Li, X., Baumgart, E., Marrell, J. C., Jimenez-Sanchez, G., Valle, D., Gould, S. J. &lt;strong&gt;PEX11-beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function.&lt;/strong&gt; Molec. Cell. Biol. 22: 4358-4365, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12024045/&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;12024045&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12024045[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/10.1128/MCB.22.12.4358-4365.2002&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="12024045">Li et al. (2002)</a> generated mice lacking peroxisome biogenesis factor 11B (Pex11b; <a href="/entry/603867">603867</a>). Mouse models generated by disruption of Pex5 (<a href="/entry/600414">600414</a>) or Pex2 (<a href="/entry/170993">170993</a>), Pex11b knockout mice displayed many pathologic hallmarks similar to Zellweger syndrome mouse models generated by disruption of Pex5 or Pex2, including a neuronal migration defect, enhanced neuronal apoptosis, a developmental delay, neonatal hypotonia, and neonatal lethality. However, Pex11b-deficient mice did not display the peroxisomal enzyme import defects that are the cellular hallmarks of this disease. The results demonstrated that the neuropathologic features of Zellweger syndrome can occur without peroxisomal enzyme mislocalization and challenged models of Zellweger syndrome pathogenesis. <a href="#34" class="mim-tip-reference" title="Li, X., Baumgart, E., Marrell, J. C., Jimenez-Sanchez, G., Valle, D., Gould, S. J. &lt;strong&gt;PEX11-beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function.&lt;/strong&gt; Molec. Cell. Biol. 22: 4358-4365, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12024045/&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;12024045&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12024045[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/10.1128/MCB.22.12.4358-4365.2002&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="12024045">Li et al. (2002)</a> concluded that Pex11b deficiency represents a novel peroxisomal disorder that mimics major neurologic and developmental pathologic features of Zellweger syndrome but lacks many of its cellular and biochemical features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12024045" 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>The complementation studies by somatic cell fusion by <a href="#8" class="mim-tip-reference" title="Brul, S., Westerveld, A., Strijland, A., Wanders, R. J. A., Schram, A. W., Heymans, H. S. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M. &lt;strong&gt;Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions: a study using complementation analysis.&lt;/strong&gt; J. Clin. Invest. 81: 1710-1715, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2454948/&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;2454948&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113510&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="2454948">Brul et al. (1988)</a> suggested the existence of several forms of Zellweger syndrome. <a href="#57" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Orii, T., Moser, A., Moser, H. W., Wanders, R. J. A. &lt;strong&gt;Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 52: 843-844, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7681622/&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;7681622&lt;/a&gt;]" pmid="7681622">Shimozawa et al. (1993)</a> indicated the existence of at least 9 groups of peroxisome-deficient disorders identified by somatic cell fusion studies. For the most part, there was no clear relationship between genotype and phenotype. The phenotype in cases of the same complementation group could be Zellweger syndrome, neonatal adrenoleukodystrophy, or infantile Refsum disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7681622+2454948" 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>Peroxisome biogenesis disorders (PBDs) include Zellweger syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy, and classic rhizomelic chondrodysplasia punctata (RCDP1). Somatic cell fusion complementation analysis indicated that the PBDs can be caused by defects in at least 11 different genes (<a href="#57" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Orii, T., Moser, A., Moser, H. W., Wanders, R. J. A. &lt;strong&gt;Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 52: 843-844, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7681622/&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;7681622&lt;/a&gt;]" pmid="7681622">Shimozawa et al., 1993</a>; <a href="#38" class="mim-tip-reference" title="Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M., Hajra, A. K., Chen, G., Raymond, G., Liu, A., Gordon, D., Garnaas, K., Walton, D. S., Skjedal, O. H., Guggenheim, M. A., Jackson, L. G., Elias, E. R., Moser, H. W. &lt;strong&gt;Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.&lt;/strong&gt; J. Pediat. 127: 13-22, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7541833/&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;7541833&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(95)70250-4&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="7541833">Moser et al., 1995</a>). Because these disorders are associated with a peroxisomal protein sorting defect, a major focus of PBD research had been on the elucidation of the molecular mechanisms of protein import into peroxisomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7681622+7541833" 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 child with a degenerative neurologic disease and hepatomegaly, <a href="#19" class="mim-tip-reference" title="Gatfield, P. D., Taller, E., Hinton, G. G., Wallace, A. C., Abdelnour, G. M., Haust, M. D. &lt;strong&gt;Hyperpipecolatemia: a new metabolic disorder associated with neuropathy and hepatomegaly: a case study.&lt;/strong&gt; Canad. Med. Assoc. J. 99: 1215-1233, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5700850/&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;5700850&lt;/a&gt;]" pmid="5700850">Gatfield et al. (1968)</a> found grossly elevated blood concentrations of pipecolic acid with mild generalized amino aciduria. Pipecolic acid is an intermediate in lysine catabolism. However, the patient showed no delay in clearing lysine from the blood, indicating, as does other evidence, that the main lysine catabolic pathway is not via pipecolic acid. Autopsy revealed widespread demyelination in the central nervous system. <a href="#2" class="mim-tip-reference" title="Arneson, D. W., Tipton, R. E., Ward, J. C. &lt;strong&gt;Hyperpipecolic acidemia: occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome.&lt;/strong&gt; Arch. Neurol. 39: 713-716, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6812554/&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;6812554&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1982.00510230039011&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="6812554">Arneson et al. (1982)</a> reported a female infant who showed the clinical presentation of Zellweger syndrome. Pipecolic acid was increased in plasma and urine. She showed reduced clearance of an administered load of pipecolic acid. <a href="#22" class="mim-tip-reference" title="Govaerts, L., Monnens, L., Tegelaers, W., Trijbels, F., van Raay-Selten, A. &lt;strong&gt;Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.&lt;/strong&gt; Europ. J. Pediat. 139: 125-128, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151832/&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;7151832&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00441495&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="7151832">Govaerts et al. (1982)</a> expressed the opinion that these cases had the Zellweger syndrome since hyperpipecolic acidemia is a feature of that disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6812554+7151832+5700850" 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="#10" class="mim-tip-reference" title="Burton, B. K., Reed, S. P., Remy, W. T. &lt;strong&gt;Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings.&lt;/strong&gt; J. Pediat. 99: 729-734, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7299546/&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;7299546&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(81)80393-9&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="7299546">Burton et al. (1981)</a> reported 2 brothers with hyperpipecolatemia. The clinical features closely resembled those of Zellweger syndrome; however, electron microscopy showed presence of hepatic peroxisomes. A functional disorder of peroxisomes may have been present in these cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7299546" 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="#30" class="mim-tip-reference" title="Kelley, R. I. &lt;strong&gt;The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects.&lt;/strong&gt; Am. J. Med. Genet. 16: 503-517, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6362411/&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;6362411&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320160409&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="6362411">Kelley (1983)</a> discussed the relationship between Zellweger syndrome and hyperpipecolatemia. Are there any cases of hyperpipecolatemia that are not Zellweger syndrome? <a href="#31" class="mim-tip-reference" title="Kelley, R. I. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Philadelphia, Pa. 1/27/1984."None>Kelley (1984)</a> suspected that several different genetic defects can lead to hyperpipecolatemia and that Zellweger syndrome, which itself may be heterogeneous, is only one of these. The complementation studies of <a href="#8" class="mim-tip-reference" title="Brul, S., Westerveld, A., Strijland, A., Wanders, R. J. A., Schram, A. W., Heymans, H. S. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M. &lt;strong&gt;Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions: a study using complementation analysis.&lt;/strong&gt; J. Clin. Invest. 81: 1710-1715, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2454948/&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;2454948&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113510&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="2454948">Brul et al. (1988)</a> suggested that hyperpipecolic acidemia is allelic to one form of Zellweger syndrome and with the infantile form of Refsum syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6362411+2454948" 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="#41" class="mim-tip-reference" title="Moser, H. W. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore, Md. 12/27/1998."None>Moser (1998)</a> indicated that most patients with hyperpipecolatemia, including the original case of <a href="#63" class="mim-tip-reference" title="Thomas, G. H., Haslam, R. H. A., Batshaw, M. L., Capute, A. J., Neidengard, L., Ransom, J. L. &lt;strong&gt;Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease.&lt;/strong&gt; Clin. Genet. 8: 376-382, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1204235/&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;1204235&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1975.tb01517.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="1204235">Thomas et al. (1975)</a> (see <a href="/entry/614879">614879</a>), are part of the Zellweger-neonatal adrenoleukodystrophy-infantile Refsum continuum. Some cases are associated with high phytanic acid and pristanic acid and represent a different, and not yet fully defined, genetic peroxisomal disorder. In other cases, hyperpipecolatemia may reflect nongenetic liver or kidney disease. <a href="#41" class="mim-tip-reference" title="Moser, H. W. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore, Md. 12/27/1998."None>Moser (1998)</a> stated that he was uncertain whether isolated, genetically determined hyperpipecolatemia exists. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1204235" 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 href="#Barth1985" class="mim-tip-reference" title="Barth, P. G., Schutgens, R. B. H., Bakkeren, J. A. J. M., Dingemans, K. P., Heymans, H. S. A., Douwes, A. C., van der Klei-van Moorsel, J. M. &lt;strong&gt;A milder variant of Zellweger syndrome.&lt;/strong&gt; Europ. J. Pediat. 144: 338-342, 1985.">Barth et al. (1985)</a>; <a href="#Brun1978" class="mim-tip-reference" title="Brun, A., Gilboa, M., Meeuwisse, G. W., Nordgren, H. &lt;strong&gt;The Zellweger syndrome: subcellular pathology, neuropathy, and the demonstration of pneumocystis carinii Pneumonitis in two siblings.&lt;/strong&gt; Europ. J. Pediat. 127: 229-245, 1978.">Brun et al. (1978)</a>; <a href="#Burton1981" class="mim-tip-reference" title="Burton, B. K. &lt;strong&gt;Hyperpipecolic acidemia. (Abstract)&lt;/strong&gt; Pediat. Res. 15: 627 only, 1981.">Burton (1981)</a>; <a href="#Gilchrist1975" class="mim-tip-reference" title="Gilchrist, K. W., Gilbert, E. F., Shahidi, N. T., Opitz, J. M. &lt;strong&gt;The evaluation of infants with the Zellweger (cerebro-hepato-renal) syndrome.&lt;/strong&gt; Clin. Genet. 7: 413-416, 1975.">Gilchrist et
al. (1975)</a>; <a href="#Gustafsson1983" class="mim-tip-reference" title="Gustafsson, J., Gustavson, K.-H., Karlaganis, G., Sjovall, J. &lt;strong&gt;Zellweger&#x27;s cerebro-hepato-renal syndrome--variations in expressivity and in defects of bile acid synthesis.&lt;/strong&gt; Clin. Genet. 24: 313-319, 1983.">Gustafsson et al. (1983)</a>; <a href="#Kase1985" class="mim-tip-reference" title="Kase, B. F., Pedersen, J. I., Strandvik, B., Bjorkhem, I. &lt;strong&gt;In vivo and in vitro studies on formation of bile acids in patients with Zellweger syndrome: evidence that peroxisomes are of importance in the normal biosynthesis of both cholic and chenodeoxycholic acid.&lt;/strong&gt; J. Clin. Invest. 76: 2393-2402, 1985.">Kase et al. (1985)</a>; <a href="#Kase1985" class="mim-tip-reference" title="Kase, B. F., Pedersen, J. I., Strandvik, B., Bjorkhem, I. &lt;strong&gt;In vivo and in vitro studies on formation of bile acids in patients with Zellweger syndrome: evidence that peroxisomes are of importance in the normal biosynthesis of both cholic and chenodeoxycholic acid.&lt;/strong&gt; J. Clin. Invest. 76: 2393-2402, 1985.">Kase et al.
(1985)</a>; <a href="#Kelley1983" class="mim-tip-reference" title="Kelley, R. I. &lt;strong&gt;The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects.&lt;/strong&gt; Am. J. Med. Genet. 16: 503-517, 1983.">Kelley and Corkey (1983)</a>; <a href="#Lazarow1986" class="mim-tip-reference" title="Lazarow, P. B., Fujiki, Y., Small, G. M., Watkins, P., Moser, H. &lt;strong&gt;Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zellweger syndrome).&lt;/strong&gt; Proc. Nat. Acad. Sci. 83: 9193-9196, 1986.">Lazarow et al. (1986)</a>; <a href="#Sarnat1983" class="mim-tip-reference" title="Sarnat, H. B., Machin, G., Darwish, H. Z., Rubin, S. Z. &lt;strong&gt;Mitochondrial myopathy of cerebro-hepato-renal (Zellweger) syndrome.&lt;/strong&gt; Canad. J. Neurol. Sci. 10: 170-177, 1983.">Sarnat et
al. (1983)</a>; <a href="#Schrakamp1985" class="mim-tip-reference" title="Schrakamp, G., Schutgens, R. B. H., Wanders, R. J. A., Heymans, H. S. A., Tager, J. M., Van den Bosch, H. &lt;strong&gt;The cerebro-hepato-renal (Zellweger) syndrome: impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts.&lt;/strong&gt; Biochim. Biophys. Acta 833: 170-174, 1985.">Schrakamp et al. (1985)</a>; <a href="#Taylor1969" class="mim-tip-reference" title="Taylor, J. C., Zellweger, H., Hanson, J. W. &lt;strong&gt;Addendum: a new case of the Zellweger syndrome.&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(2): 159-160, 1969.">Taylor et al. (1969)</a>; <a href="#Trijbels1981" class="mim-tip-reference" title="Trijbels, J. M. F., Monnens, L. A. H., Bakkeren, J. A. J. M., Willems, J. L., Sengers, R. C. A. &lt;strong&gt;Mitochondrial abnormalities in the cerebro-hepato-renal syndrome of Zellweger. In: Busch, H. F. M.; Jennekens, F. G. I.; Scholte, H. R.: Mitochondria and Muscular Diseases.&lt;/strong&gt; Beetsterzwaag, The Netherlands: Mefar (pub.) 1981. Pp. 187-190.">Trijbels
et al. (1981)</a>; <a href="#Wanders1986" class="mim-tip-reference" title="Wanders, R. J. A., Schrakamp, G., van den Bosch, H., Tager, J. M., Schutgens, R. B. H. &lt;strong&gt;A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells.&lt;/strong&gt; Europ. J. Pediat. 145: 136-138, 1986.">Wanders et al. (1986)</a>; <a href="#Wanders1990" class="mim-tip-reference" title="Wanders, R. J. A., van Roermund, C. W. T., Schutgens, R. B. H., Barth, P. G., Heymans, H. S. A., van den Bosch, H., Tager, J. M. &lt;strong&gt;The inborn errors of peroxisomal beta-oxidation: a review.&lt;/strong&gt; J. Inherit. Metab. Dis. 13: 4-36, 1990.">Wanders et al. (1990)</a>
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Aikawa, J., Chen, W. W., Kelley, R. I., Tada, K., Moser, H. W., Chen, G. L.
<strong>Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts.</strong>
Proc. Nat. Acad. Sci. 88: 10084-10088, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1946426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1946426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1946426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.88.22.10084" target="_blank">Full Text</a>]
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Arneson, D. W., Tipton, R. E., Ward, J. C.
<strong>Hyperpipecolic acidemia: occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome.</strong>
Arch. Neurol. 39: 713-716, 1982.
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[<a href="https://doi.org/10.1001/archneur.1982.00510230039011" target="_blank">Full Text</a>]
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Barth, P. G., Schutgens, R. B. H., Bakkeren, J. A. J. M., Dingemans, K. P., Heymans, H. S. A., Douwes, A. C., van der Klei-van Moorsel, J. M.
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[<a href="https://doi.org/10.1007/BF00441774" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01242.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI113510" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00493539" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(81)80393-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(75)80967-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI115401" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1083/jcb.135.1.1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.21388" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320580212" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.182.4107.62" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00441495" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.424737" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/306069a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archopht.1981.03930020853008" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI111717" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI112252" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02310872" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320160409" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.83.23.9193" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1128/MCB.22.12.4358-4365.2002" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2011-100288" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(95)70250-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198405033101802" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00702873" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2015.08.011" target="_blank">Full Text</a>]
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<strong>Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.</strong>
Am. J. Med. Genet. 24: 69-82, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3706414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3706414</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3706414" 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.1320240109" target="_blank">Full Text</a>]
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Zung, A., Mogilner, B. M., Nissani, R., Appelman, Z., Gelman De Kohan, Z.
<strong>Occurrence of cerebrohepatorenal (Zellweger) syndrome in the Karaite community in Israel: a genetic hypothesis.</strong>
Israel J. Med. Sci. 26: 570-572, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2249933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2249933</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2249933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hilary J. Vernon - updated : 02/09/2023
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Marla J. F. O'Neill - updated : 10/27/2015<br>Anne M. Stumpf - updated : 11/29/2012<br>Anne M. Stumpf - reorganized : 10/24/2012<br>Anne M. Stumpf - reorganized : 10/10/2012<br>Cassandra L. Kniffin - updated : 1/4/2011<br>Cassandra L. Kniffin - updated : 10/2/2008<br>Ada Hamosh - updated : 6/28/2007<br>Victor A. McKusick - updated : 6/15/2004<br>Dawn Watkins-Chow - updated : 8/23/2002<br>George E. Tiller - updated : 10/26/2000<br>David Valle - edited : 6/23/1997<br>Orest Hurko - updated : 4/3/1996
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Victor A. McKusick : 6/3/1986
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alopez : 03/17/2023
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<strong>#</strong> 214100
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PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A
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<em>Alternative titles; symbols</em>
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ZS; ZWS<br />
CEREBROHEPATORENAL SYNDROME; CHR
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Other entities represented in this entry:
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PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1, INCLUDED; CG1, INCLUDED
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PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP E, INCLUDED; CGE, INCLUDED
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<strong>SNOMEDCT:</strong> 88469006; &nbsp;
<strong>ICD10CM:</strong> E71.510; &nbsp;
<strong>ORPHA:</strong> 79189, 912; &nbsp;
<strong>DO:</strong> 0080476; &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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7q21.2
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Peroxisome biogenesis disorder 1A (Zellweger)
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214100
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Autosomal recessive
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3
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PEX1
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602136
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that this form of Zellweger syndrome (PBD1A) is caused by homozygous or compound heterozygous mutation in the PEX1 gene (602136) on chromosome 7q21.</p>
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<strong>Description</strong>
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<p>Zellweger syndrome is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life (summary by Wanders, 2004). </p><p>'Zellweger syndrome' is the prototype of a large group of peroxisomal disorders, which can be classified into 2 main groups: (1) disorders of peroxisome biogenesis and (2) single peroxisomal enzyme deficiencies (see 264470). The peroxisome biogenesis disorders (PBDs) fall into 4 main phenotypic classes. Three of them, Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD), have multiple complementation groups and form a spectrum of overlapping features, with the most severe being the Zellweger syndrome and the least severe infantile Refsum disease. The fourth group, rhizomelic chondrodysplasia punctata (RCDP1; 215100), is a distinct PBD phenotype (summary by Moser et al., 1995, Wanders, 2004). </p><p>Heimler syndrome, a rare autosomal recessive disorder encompassing sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities, represents a discrete phenotypic entity at the mildest end of the PBD spectrum (Ratbi et al., 2015). </p><p><strong><em>Genetic Heterogeneity of Zellweger Syndrome</em></strong></p><p>
Zellweger syndrome (denoted by the suffix 'A' in the symbol) is a genetically heterogeneous disorder and can be caused by mutation in any one of several genes, known as pexins, involved in peroxisome biogenesis. The pexin (PEX) genes encode proteins essential for the assembly of functional peroxisomes (summary by Distel et al., 1996). Forms of Zellweger syndrome include PBD1A, caused by mutation in the PEX1 gene on chromosome 7q21; PBD2A (214110), caused by mutation in the PEX5 (600414) gene on chromosome 12p13; PBD3A (614859), caused by mutation in the PEX12 (601758) gene on chromosome 17; PBD4A (614862), caused by mutation in the PEX6 (601498) gene on chromosome 6p21; PBD5A (614866), caused by mutation in the PEX2 (170993) gene on chromosome 8q21; PBD6A (614870), caused by mutation in the PEX10 (602859) gene on chromosome 1p36; PBD7A (614872), caused by mutation in the PEX26 (608666) gene on chromosome 22q11; PBD8A (614876), caused by mutation in the PEX16 (603360) gene on chromosome 11p12; PBD10A (614882), caused by mutation in the PEX3 (603164) gene on chromosome 6q23-q24; PBD11A (614883), caused by mutation in the PEX13 (601789) gene on chromosome 2p15; PBD12A (614886), caused by mutation in the PEX19 (600279) gene on chromosome 1q22; and PBD13A (614887), caused by mutation in the PEX14 gene (601791) on chromosome 1p36.2. </p><p>Mutation in the pexin genes also causes the less severe phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD); see PBD1B (601539) for a phenotypic description and discussion of genetic heterogeneity of these PBDs.</p><p>Heimler syndrome-1 (HMLR1; 234580) and -2 (HMLR2; 616617) are caused by mutation in the PEX1 and PEX6 genes, respectively.</p><p>The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; 215100), and a PBD without rhizomelia (PBD9B; 614879), are caused by mutation in the PEX7 gene (601757) on chromosome 6q22-q24.</p><p>In addition to the defects in peroxisome assembly, Distel et al. (1996) noted that peroxisomal disorders include a number of single peroxisomal enzyme deficiencies: X-linked adrenoleukodystrophy (ALD; 300100), acyl-coenzyme A oxidase deficiency (264470), DHAPAT deficiency (222765), alkyl-DHAP synthase deficiency (600121), glutaric aciduria type III (231690), classic Refsum disease (266500), hyperoxaluria type I (259900), and acatalasia (115500). A peroxisomal and mitochondrial fission defect results in a lethal encephalopathy (EMPF; 614388). </p>
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<strong>Nomenclature</strong>
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<p><strong><em>Complementation Groups</em></strong></p><p>
Before the nature of the mutations was known, the peroxisomal biogenesis disorders had historically been grouped according to complementation on the basis of cell fusion studies. Complementation groups were assigned numbers (Kennedy-Krieger Institute, Amsterdam University) or letters (Gifu University); various complementation groups proved to be genetically equivalent. Shimozawa et al. (1993) provided a table comparing the complementation groups defined at Gifu University in Japan, Kennedy-Krieger Institute in Baltimore, and Amsterdam University in the Netherlands (Brul et al., 1988). They pointed out that no obvious relationship between genotype and phenotype was found; the clinical phenotype in a single complementation group could be Zellweger syndrome, neonatal adrenoleukodystrophy, or infantile Refsum disease. </p><p>Individuals with PBDs of complementation group 1 (CG1, equivalent to CGE) have mutations in the PEX1 gene.</p>
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<strong>Clinical Features</strong>
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<p>Bowen et al. (1964) described 2 families, each with 2 sibs displaying an unusual malformation syndrome. Cardinal features were failure to thrive, absent or weak sucking and swallowing, finger flexion, congenital glaucoma, malformed ears, small mandible, heart malformations, enlarged clitoris, hypospadias, agenesis of the corpus callosum, and death at an early age. No parental consanguinity was demonstrated in either family, and no chromosomal abnormality was identified. Opitz et al. (1969), who described further cases, suggested that only 1 of the 2 sets of sibs reported by Bowen et al. (1964) (the pair contributed by Zellweger) had the cerebrohepatorenal syndrome; however, in a review, Wanders (2004) noted that both families had Zellweger syndrome. Opitz et al. (1969) suggested the eponymic designation 'Zellweger syndrome,' and made the important observation that serum iron level and iron binding capacity were high in one well-studied case and may provide an easy method for diagnosis of this disorder. A defect in the placental iron transfer mechanism was postulated. </p><p>Smith et al. (1965) described a Caucasian brother and sister who died at 8 and 10 weeks of age with aberrant development of the skull, face, ears, eyes, hands and feet, polycystic kidneys with adequate functional renal parenchyma, and intrahepatic biliary dysgenesis. Jaundice developed before death. The karyotype was normal. </p><p>Passarge and McAdams (1967) described 5 sisters out of a sibship of 13 with severe, generalized hypotonia and absent Moro response, characteristic craniofacial abnormalities, cortical renal cysts, and hepatomegaly. The brain in 2, studied histologically, showed sudanophilic leukodystrophy. The authors considered this to be the same entity as that reported by Smith et al. (1965) and perhaps the same as that described by Bowen et al. (1964). They proposed 'cerebrohepatorenal syndrome' as an appropriate designation. </p><p>Chondral calcification, most marked in the patellas, was a feature pointed out by Poznanski et al. (1970). The change is somewhat like that of chondrodystrophia calcificans congenita. Patton et al. (1972) described 2 cases with the additional feature of thymic anomalies. Abnormalities of iron metabolism were not present. Volpe and Adams (1972) observed a defect in neuronal migration. </p><p>Mathis et al. (1978) observed cholestasis in the cerebrohepatorenal syndrome, and electron microscopy of liver biopsy showed mitochondrial abnormalities Pathologic findings were presented by Friedman et al. (1980). </p><p>Minor opacities in the ocular lenses in heterozygotes were described by Hittner et al. (1981). </p><p>Bleeker-Wagemakers et al. (1986) reported a 13-year-old girl with clinical and biochemical features consistent with Zellweger syndrome. She had severe mental retardation, tapetoretinal degeneration, and sensorineural hearing loss. </p><p>Zung et al. (1990) suggested that this disorder was unusually frequent among Karaites in Israel. In addition to dysmyelination, there was also neuronal migration derangements resulting in microgyria/pachygyria, heterotopias, and dysplasias of the inferior olive. </p><p>Van Woerden et al. (2006) reviewed the medical charts of 31 Dutch Zellweger spectrum disorder patients with prolonged survival (greater than 1 year). Urinary oxylate excretion was assessed in 23 and glycolate in 22 patients. Hyperoxaluria was present in 19 (83%) and hyperglycolic aciduria in 14 (64%). Pyridoxine treatment in 6 patients did not reduce the oxalate excretion, as in some patients with primary hyperoxaluria type 1 (259900). Renal involvement with urolithiasis and nephrocalcinosis was present in 5, of which 1 developed end-stage renal disease. Van Woerden et al. (2006) concluded that the presence of hyperoxaluria, potentially leading to severe renal involvement, was statistically significantly correlated with the severity of neurologic dysfunction, and that Zellweger spectrum disorder patients should be screened by urinalysis for hyperoxaluria and renal ultrasound for nephrocalcinosis in order to take timely measures to prevent renal insufficiency. </p><p>Majewski et al. (2011) reported a patient (patient 2) with PBD1A who presented with Leber congenital amaurosis (see 204000) at 9 months of age. At 20 months of age she had developmental delay, hypotonia, and seizures. Biochemical testing demonstrated elevated C26:0 and C22/C26 very long chain fatty acids and elevated plasma phytanic acid. </p>
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<strong>Other Features</strong>
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<p>Erdem et al. (1995) reported the autopsy finding of intestinal lymphangiectasia in a Turkish 11-day-old girl whose parents were first cousins. </p>
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<strong>Biochemical Features</strong>
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<p>Very-long-chain fatty acids, which are usually oxidized in peroxisomes, were found to accumulate in cultured cells of patients with Zellweger syndrome (Brown et al., 1982)--a feature shared by neonatal adrenoleukodystrophy (see 601539). </p><p>Arneson and Ward (1981) studied hyperpipecolic acid in the Zellweger syndrome. Govaerts et al. (1982) reported observations on 16 patients (13 male, 3 female), including 3 pairs of sibs. Ten died before the age of 8 months, and 5 survived beyond age 2 years. Consistent findings were elevated pipecolic acid in serum and cerebrospinal fluid, abnormality of bile acids, and increased urinary excretion of p-OH-phenyl-lactate. Although excretion of pipecolic acid in the urine was not always elevated, the DL-pipecolic acid loading test was always abnormal. They authors concluded that the basic defect was absence or functional disturbance of peroxisomes. </p><p>Heymans et al. (1983) showed that tissues of 5 infants who died with Zellweger syndrome contained less than 10% of the normal levels of phosphatidylethanolamine plasmalogen, a major phospholipid of cell membranes. Key enzymes in the synthesis of plasmalogens are known to be located exclusively in the peroxisomes. Moser et al. (1984) demonstrated a 5-fold or greater increase of very-long-chain fatty acid levels, particularly hexacosanoic acid (C26:0) and hexacosenoic acid (C26:1), in plasma and cultured skin fibroblasts in 35 patients. Similar findings in cultured amniocytes permitted prenatal diagnosis. Oxidation of very-long-chain fatty acids, which normally takes place in peroxisomes, was impaired in homogenates of cultured skin fibroblasts and amniocytes. These findings extended the observation that the Zellweger syndrome is a peroxisomal disorder. </p><p>Dancis and Hutzler (1986) concluded that hyperpipecolatemia develops postpartum; that plasma pipecolic acid concentrations may not be diagnostic early in life; and that the hyperpipecolatemia plays no etiologic role in the major manifestations of Zellweger disease. Measurements of plasma pipecolic acid in familial hyperlysinemia demonstrated that considerable increases in this substance could be tolerated without evident clinical effect. Pipecolic acid is a minor degradative product of lysine. </p><p>Sturk et al. (1987) found that platelet-activating factor (PAF) was absent in 2 Zellweger patients and severely reduced in a third. In all 3 patients, however, the thrombin-induced third mechanism of platelet aggregation was present, indicating that PAF may not be the mediator of the third pathway. PAF synthesis has been reported from stimulation of a large diversity of cell types. PAF is an alkoxyether like the plasmalogens. </p><p>Aikawa et al. (1991) presented evidence for the existence of low-density catalase-containing particles in both normal and Zellweger syndrome fibroblasts. Thus, catalase is not free in the cytosol of Zellweger syndrome fibroblasts as commonly thought, but in particles (W particles). Aikawa et al. (1991) found that L-alpha-hydroxyacid oxidase, another peroxisomal matrix enzyme, is also present in W particles derived from normal and Zellweger syndrome fibroblasts. Mayatepek et al. (1993) found that urinary excretion of leukotriene E4 (LTE4) and N-acetyl-LTE4, relative to creatinine, was increased more than 10-fold in 8 patients with Zellweger syndrome in comparison to healthy infants. The increased levels of these biologically active, proinflammatory mediators might be of pathophysiologic significance in this disorder. Furthermore, the pronounced urinary excretion of omega-carboxy-LTE4, omega-carboxy-LTB4, and LTB4 may be of diagnostic value. </p><p>By administering tritiated prostaglandin F(2-alpha) to an infant with Zellweger syndrome, Diczfalusy et al. (1991) found that the patient excreted considerably less polar metabolites of prostaglandin in the urine than did control subjects. The major urinary metabolite found in control subjects was almost absent in the urine from the Zellweger patient. The study indicated that peroxisomal beta-oxidation is of major importance for in vivo chain shortening of prostaglandins. </p><p><strong><em>Complementation Studies</em></strong></p><p>
Brul et al. (1988) used complementation analysis after somatic cell fusion to study the genetic relationships among various disorders with simultaneous impairment of several peroxisomal functions, including several forms of Zellweger syndrome, rhizomelic chondrodysplasia punctata (see 215100), infantile Refsum disease, and neonatal adrenoleukodystrophy. As an index of complementation they used the activity of acyl-coenzyme A:dihydroxyacetonephosphate acyltransferase, which is deficient in these diseases. At least 5 complementation groups were identified, indicating marked genetic heterogeneity. </p><p>Poll-The et al. (1989) did complementation studies using the production of (14)CO(2) from exogenous labeled phytanic acid in fibroblast monolayers from patients with classic Refsum disease and peroxisomal disorders. Absence of complementation was found between Zellweger syndrome and infantile Refsum disease after polyethylene glycol fusion of cells from patients with the 2 disorders. Classic Refsum disease, rhizomelic chondrodysplasia punctata, and neonatal adrenoleukodystrophy all complemented one another and complemented Zellweger syndrome or infantile Refsum disease lines. Four complementation groups were recognized, reflecting the involvement of at least 4 genes in phytanic acid alpha-oxidation, including those with regulatory and assembly roles. </p>
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<strong>Pathogenesis</strong>
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<span class="mim-text-font">
<p>Goldfischer et al. (1973) presented evidence of abnormality in peroxisomes and mitochondria, the 2 organelles principally concerned with cellular respiration. Versmold et al. (1977) found absence of peroxisomes in the liver of 3 patients with Zellweger syndrome. </p><p>Danks et al. (1975) found elevated levels of pipecolic acid in blood and urine and suggested that a defect in metabolism of pipecolic acid might be at the root of the disorder. Piperidine, a product of pipecolic acid, is involved in hibernation. </p><p>The findings of Hanson et al. (1979) supported the hypothesis of defective mitochondrial oxidation in the Zellweger syndrome. </p><p>Govaerts et al. (1982) concluded that the basic defect was absence or functional disturbance of peroxisomes, based on the biochemical profiles of patients. </p><p>Santos et al. (1985) showed that Zellweger fibroblasts also lacked peroxisomes. Furthermore, catalase and fatty acyl-CoA oxidase, although present, behaved as cytosolic enzymes. They interpreted these findings to indicate that the defect in Zellweger syndrome resides in the assembly of the peroxisomal constituents. </p><p>According to Moser (1986), 5 enzymatic defects had been demonstrated or deduced in Zellweger syndrome, although none appeared to be the primary defect. The 5 were dihydroxyacetone phosphate acyltransferase (involved in synthesis of plasmalogen); peroxisomal fatty acid beta-oxidation (same as in adrenoleukodystrophy; 300100); phytanic acid oxidase (same as in Refsum syndrome; 266500); degradation of pipecolic acid; and processing of bile acid intermediates.</p><p>In reporting accumulation of very-long-chain fatty acids in these disorders, Poulos et al. (1986) commented that in Zellweger syndrome and possibly in infantile Refsum syndrome (see 601539), the defect in beta-oxidation may be secondary to a primary defect in the structure and/or function of peroxisomes, while in X-linked adrenoleukodystrophy it resides in a pathway specific for oxidation of very-long-chain fatty acids. </p><p>Wanders et al. (1987) presented evidence that peroxisomes contain at least 2 fatty acid-activating enzyme systems, one that activates long chain fatty acids such as palmitate, and a second that is responsible for the activation of very-long-chain fatty acids such as lignocerate and cerotate. The peroxisomal oxidation of all 3 fatty acid substrates was markedly deficient in fibroblasts from patients with Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease, in accordance with the deficiency of peroxisomes in these patients. In fibroblasts from patients with X-linked adrenoleukodystrophy, the peroxisomal oxidation of lignocerate and cerotate was impaired, but not that of palmitate. Very long chain fatty acid synthetase was present not only in peroxisomes but also in microsomes. The evidence led Wanders et al. (1987) to conclude that X-linked adrenoleukodystrophy (300100) was caused by deficiency of peroxisomal very-long-chain fatty acyl-CoA synthetase. </p><p>Santos et al. (1988) demonstrated that although peroxisomes were apparently missing in Zellweger syndrome, peroxisomal membrane proteins could be identified by immunofluorescence microscopy. In control fibroblasts, peroxisomes appeared as small dots. In Zellweger fibroblasts, the peroxisomal membrane proteins were located in unusual empty membrane structures of larger size. Santos et al. (1988) suggested, therefore, that the primary defect was in the mechanism for import of matrix proteins. </p><p>Pristanic acid is the product of the first step in the degradation of phytanic acid. Both phytanic acid and pristanic acid accumulate in Zellweger syndrome. Wanders et al. (1990) demonstrated that the cause of the accumulation was deficiency of pristanoyl-CoA oxidase. Thus, the previously held view that pristanic acid beta-oxidation occurs in mitochondria was disproved. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Wilson et al. (1986) used measurement of dihydroxyacetone phosphate acyltransferase, a peroxisomal enzyme, as a diagnostic method in Zellweger syndrome. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Lazarow et al. (1988) showed that in homogenates of Zellweger syndrome amniocytes, catalase remains in the supernatant on sedimentation, whereas in normal cells, catalase sediments with the peroxisomes. The difference was unambiguous and reproducible and provided a simple method for prenatal diagnosis. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Naritomi et al. (1988) found a microdeletion of chromosome 7 in an infant with Zellweger syndrome. The deletion involved 7q11.12-q11.23. They suggested that the Zellweger gene is situated in this region. Naritomi et al. (1989) reported a second case of Zellweger syndrome with a rearrangement of chromosome 7: a pericentric inversion, inv(7)(p12q11.23). They suggested that this confirms the assignment to 7q11, probably 7q11.23. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Moser et al. (1995) found that among the 61 patients in complementation group 1 (corresponding to Netherlands group 2 and Japan group E), 56% had the Zellweger syndrome phenotype, 26% had the phenotype of neonatal adrenoleukodystrophy (NALD; see 601539), 11% had the phenotype of infantile Refsum disease (IRD; see 601539), and 43 patients (25%) had phenotype of rhizomelic chondrodysplasia (RCDP1; 215100). A variant phenotype was observed in 7% of patients. </p><p>Reuber et al. (1997) found that expression of human PEX1 restored peroxisomal protein import in fibroblasts from 30 patients with peroxisomal biogenesis disorders of complementation group 1 (CG1). Additionally, they detected PEX1 mutations in multiple CG1 probands (see, e.g., 602136.0001). </p><p>Portsteffen et al. (1997) identified 3 mutant alleles in CG1 patients. One of these, a G-to-A transition in exon 15 resulting in G843D (602136.0001), was found in homozygosity in 1 patient and heterozygosity in another. </p><p>Tamura et al. (1998) demonstrated that human PEX1 expression restored peroxisomal protein import in fibroblasts from 3 patients with Zellweger syndrome and neonatal adrenoleukodystrophy of complementation group 1, which is the peroxisome biogenesis disorder (PBD) of highest incidence. Tamura et al. (1998) found that a patient with Zellweger syndrome was a compound heterozygote for 2 inactivating mutations of the PEX1 gene (602136.0002, 602136.0003). The cDNAs corresponding to these PEX1 mutations were defective in peroxisome-restoring activity when expressed in the patient's fibroblasts as well as in ZP107 cells. This method of identifying PEX1 cDNA complemented that used by Reuber et al. (1997) and Portsteffen et al. (1997), who isolated the human PEX1 gene by a homology search of a human EST database using a yeast PEX1 sequence. All 3 studies demonstrated unequivocally that PEX1 is the causative gene for complementation group 1 peroxisomal disorders. </p><p>In a patient (patient 2) with PBD1A, Majewski et al. (2011) identified compound heterozygous mutations in the PEX1 gene (G843D, 602136.0001; c.2098insT, 602136.0011). </p><p><strong><em>Reviews</em></strong></p><p>
Subramani (1997) summarized the progress in identifying PEX genes responsible for human genetic diseases. Waterham and Cregg (1997) reviewed the current understanding of peroxisome biogenesis. </p><p>Ebberink et al. (2011) reported the results of genetic complementation studies in more than 600 cell lines from patients with a Zellweger syndrome spectrum disorder. They provided an overview of all mutations identified in these cell lines as well as previously reported mutations in respective PEX genes. No novel genetic complementation groups were identified, suggesting that all PEX gene defects resulting in peroxisome deficiency are known. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Using gene targeting, Li et al. (2002) generated mice lacking peroxisome biogenesis factor 11B (Pex11b; 603867). Mouse models generated by disruption of Pex5 (600414) or Pex2 (170993), Pex11b knockout mice displayed many pathologic hallmarks similar to Zellweger syndrome mouse models generated by disruption of Pex5 or Pex2, including a neuronal migration defect, enhanced neuronal apoptosis, a developmental delay, neonatal hypotonia, and neonatal lethality. However, Pex11b-deficient mice did not display the peroxisomal enzyme import defects that are the cellular hallmarks of this disease. The results demonstrated that the neuropathologic features of Zellweger syndrome can occur without peroxisomal enzyme mislocalization and challenged models of Zellweger syndrome pathogenesis. Li et al. (2002) concluded that Pex11b deficiency represents a novel peroxisomal disorder that mimics major neurologic and developmental pathologic features of Zellweger syndrome but lacks many of its cellular and biochemical features. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The complementation studies by somatic cell fusion by Brul et al. (1988) suggested the existence of several forms of Zellweger syndrome. Shimozawa et al. (1993) indicated the existence of at least 9 groups of peroxisome-deficient disorders identified by somatic cell fusion studies. For the most part, there was no clear relationship between genotype and phenotype. The phenotype in cases of the same complementation group could be Zellweger syndrome, neonatal adrenoleukodystrophy, or infantile Refsum disease. </p><p>Peroxisome biogenesis disorders (PBDs) include Zellweger syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy, and classic rhizomelic chondrodysplasia punctata (RCDP1). Somatic cell fusion complementation analysis indicated that the PBDs can be caused by defects in at least 11 different genes (Shimozawa et al., 1993; Moser et al., 1995). Because these disorders are associated with a peroxisomal protein sorting defect, a major focus of PBD research had been on the elucidation of the molecular mechanisms of protein import into peroxisomes. </p><p>In a child with a degenerative neurologic disease and hepatomegaly, Gatfield et al. (1968) found grossly elevated blood concentrations of pipecolic acid with mild generalized amino aciduria. Pipecolic acid is an intermediate in lysine catabolism. However, the patient showed no delay in clearing lysine from the blood, indicating, as does other evidence, that the main lysine catabolic pathway is not via pipecolic acid. Autopsy revealed widespread demyelination in the central nervous system. Arneson et al. (1982) reported a female infant who showed the clinical presentation of Zellweger syndrome. Pipecolic acid was increased in plasma and urine. She showed reduced clearance of an administered load of pipecolic acid. Govaerts et al. (1982) expressed the opinion that these cases had the Zellweger syndrome since hyperpipecolic acidemia is a feature of that disorder. </p><p>Burton et al. (1981) reported 2 brothers with hyperpipecolatemia. The clinical features closely resembled those of Zellweger syndrome; however, electron microscopy showed presence of hepatic peroxisomes. A functional disorder of peroxisomes may have been present in these cases. </p><p>Kelley (1983) discussed the relationship between Zellweger syndrome and hyperpipecolatemia. Are there any cases of hyperpipecolatemia that are not Zellweger syndrome? Kelley (1984) suspected that several different genetic defects can lead to hyperpipecolatemia and that Zellweger syndrome, which itself may be heterogeneous, is only one of these. The complementation studies of Brul et al. (1988) suggested that hyperpipecolic acidemia is allelic to one form of Zellweger syndrome and with the infantile form of Refsum syndrome. </p><p>Moser (1998) indicated that most patients with hyperpipecolatemia, including the original case of Thomas et al. (1975) (see 614879), are part of the Zellweger-neonatal adrenoleukodystrophy-infantile Refsum continuum. Some cases are associated with high phytanic acid and pristanic acid and represent a different, and not yet fully defined, genetic peroxisomal disorder. In other cases, hyperpipecolatemia may reflect nongenetic liver or kidney disease. Moser (1998) stated that he was uncertain whether isolated, genetically determined hyperpipecolatemia exists. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Barth et al. (1985); Brun et al. (1978); Burton (1981); Gilchrist et
al. (1975); Gustafsson et al. (1983); Kase et al. (1985); Kase et al.
(1985); Kelley and Corkey (1983); Lazarow et al. (1986); Sarnat et
al. (1983); Schrakamp et al. (1985); Taylor et al. (1969); Trijbels
et al. (1981); Wanders et al. (1986); Wanders et al. (1990)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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Burton, B. K.
<strong>Hyperpipecolic acidemia. (Abstract)</strong>
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Danks, D. M., Tippett, P., Adams, C., Campbell, P.
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Gatfield, P. D., Taller, E., Hinton, G. G., Wallace, A. C., Abdelnour, G. M., Haust, M. D.
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<p class="mim-text-font">
Goldfischer, S., Moore, C. L., Johnson, A. B., Spiro, A. J., Valsamis, M. P., Wisniewski, H. K., Ritch, R. H., Norton, W. T., Rapin, I., Gartner, L. M.
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<p class="mim-text-font">
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Gustafsson, J., Gustavson, K.-H., Karlaganis, G., Sjovall, J.
<strong>Zellweger&#x27;s cerebro-hepato-renal syndrome--variations in expressivity and in defects of bile acid synthesis.</strong>
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[PubMed: 6652941]
</p>
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<p class="mim-text-font">
Hanson, R. F., Szczepanik-VanLeeuwan, P., Williams, G. C., Grabowski, G., Sharp, H. L.
<strong>Defects of the bile acid synthesis in Zellweger&#x27;s syndrome.</strong>
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[PubMed: 424737]
[Full Text: https://doi.org/10.1126/science.424737]
</p>
</li>
<li>
<p class="mim-text-font">
Heymans, H. S. A., Schutgens, R. B. H., Tan, R., van den Bosch, H., Borst, P.
<strong>Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).</strong>
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[PubMed: 6633659]
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</p>
</li>
<li>
<p class="mim-text-font">
Hittner, H. M., Kretzer, F. L., Mehta, R. S.
<strong>Zellweger syndrome: lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes.</strong>
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[PubMed: 7295145]
[Full Text: https://doi.org/10.1001/archopht.1981.03930020853008]
</p>
</li>
<li>
<p class="mim-text-font">
Kase, B. F., Bjorkhem, I., Haga, P., Pedersen, J. I.
<strong>Defective peroxisomal cleavage of the C-27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger.</strong>
J. Clin. Invest. 75: 427-435, 1985.
[PubMed: 3973012]
[Full Text: https://doi.org/10.1172/JCI111717]
</p>
</li>
<li>
<p class="mim-text-font">
Kase, B. F., Pedersen, J. I., Strandvik, B., Bjorkhem, I.
<strong>In vivo and in vitro studies on formation of bile acids in patients with Zellweger syndrome: evidence that peroxisomes are of importance in the normal biosynthesis of both cholic and chenodeoxycholic acid.</strong>
J. Clin. Invest. 76: 2393-2402, 1985.
[PubMed: 4077985]
[Full Text: https://doi.org/10.1172/JCI112252]
</p>
</li>
<li>
<p class="mim-text-font">
Kelley, R. I., Corkey, B. E.
<strong>Increased sensitivity of cerebrohepatorenal syndrome fibroblasts to antimycin A.</strong>
J. Inherit. Metab. Dis. 6: 158-162, 1983.
[PubMed: 6321855]
[Full Text: https://doi.org/10.1007/BF02310872]
</p>
</li>
<li>
<p class="mim-text-font">
Kelley, R. I.
<strong>The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects.</strong>
Am. J. Med. Genet. 16: 503-517, 1983.
[PubMed: 6362411]
[Full Text: https://doi.org/10.1002/ajmg.1320160409]
</p>
</li>
<li>
<p class="mim-text-font">
Kelley, R. I.
<strong>Personal Communication.</strong>
Philadelphia, Pa. 1/27/1984.
</p>
</li>
<li>
<p class="mim-text-font">
Lazarow, P. B., Fujiki, Y., Small, G. M., Watkins, P., Moser, H.
<strong>Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zellweger syndrome).</strong>
Proc. Nat. Acad. Sci. 83: 9193-9196, 1986.
[PubMed: 3538019]
[Full Text: https://doi.org/10.1073/pnas.83.23.9193]
</p>
</li>
<li>
<p class="mim-text-font">
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