publicdata/nih-gov
1
0
Fork 0
Code Issues Pull requests Projects Releases Packages Wiki Activity Actions
nih-gov/www.ncbi.nlm.nih.gov/omim/236670

4738 lines
427 KiB
Text
Raw Permalink Blame History

<!DOCTYPE html>
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
<head>
<!--
################################# CRAWLER WARNING #################################
- The terms of service and the robots.txt file disallows crawling of this site,
please see https://omim.org/help/agreement for more information.
- A number of data files are available for download at https://omim.org/downloads.
- We have an API which you can learn about at https://omim.org/help/api and register
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
- You should feel free to contact us at https://omim.org/contact to figure out the best
approach to getting the data you need for your work.
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
DISTRIBUTED CRAWLS OF THIS SITE.
################################# CRAWLER WARNING #################################
-->
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
<meta http-equiv="cache-control" content="no-cache" />
<meta http-equiv="pragma" content="no-cache" />
<meta name="robots" content="index, follow" />
<meta name="viewport" content="width=device-width, initial-scale=1" />
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
contain copious links to other genetics resources." />
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
<meta name="theme-color" content="#333333" />
<link rel="icon" href="/static/omim/favicon.png" />
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
<link rel="manifest" href="/static/omim/manifest.json" />
<script id='mimBrowserCapability'>
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
</script>
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
<link rel="preconnect" href="https://www.googletagmanager.com" />
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
<script>
window.dataLayer = window.dataLayer || [];
function gtag(){window.dataLayer.push(arguments);}
gtag("js", new Date());
gtag("config", "G-HMPSQC23JJ");
</script>
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
<div id="mimBootstrapDeviceSize">
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
</div>
<title>
Entry
- #236670 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1
- OMIM
</title>
</head>
<body>
<div id="mimBody">
<div id="mimHeader" class="hidden-print">
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
<div class="container-fluid">
<!-- Brand and toggle get grouped for better mobile display -->
<div class="navbar-header">
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
<span class="sr-only"> Toggle navigation </span>
<span class="icon-bar"></span>
<span class="icon-bar"></span>
<span class="icon-bar"></span>
</button>
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
</div>
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
<ul class="nav navbar-nav">
<li>
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
</li>
<li class="dropdown">
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
<li>
<a href="/statistics/update"> Update List </a>
</li>
<li>
<a href="/statistics/entry"> Entry Statistics </a>
</li>
<li>
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
</li>
<li>
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
</li>
</ul>
</li>
<li class="dropdown">
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
<li>
<a href="/downloads/"> Register for Downloads </a>
</li>
<li>
<a href="/api"> Register for API Access </a>
</li>
</ul>
</li>
<li>
<a href="/contact?mimNumber=236670"><span class="mim-navbar-menu-font"> Contact Us </span></a>
</li>
<li>
<a href="/mimmatch/">
<span class="mim-navbar-menu-font">
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
MIMmatch
</span>
</span>
</a>
</li>
<li class="dropdown">
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
<li>
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
</li>
<li>
<a href="/donors"> Donors </a>
</li>
</ul>
</li>
<li class="dropdown">
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
<li>
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/search"> Search Help </a>
</li>
<li>
<a href="/help/linking"> Linking Help </a>
</li>
<li>
<a href="/help/api"> API Help </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/external"> External Links </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/agreement"> Use Agreement </a>
</li>
<li>
<a href="/help/copyright"> Copyright </a>
</li>
</ul>
</li>
<li>
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
</li>
</ul>
</div>
</div>
</nav>
</div>
<div id="mimSearch" class="hidden-print">
<div class="container">
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
<input type="hidden" id="mimSearchStart" name="start" value="1" />
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
<div class="row">
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
<div class="form-group">
<div class="input-group">
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
<div class="input-group-btn">
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
<ul class="dropdown-menu dropdown-menu-right">
<li class="dropdown-header">
Advanced Search
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/entry"> OMIM </a>
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/geneMap"> Gene Map </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/history"> Search History </a>
</li>
</ul>
</div>
</div>
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
</div>
</div>
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
<span class="small">
</span>
</div>
</div>
</form>
<div class="row">
<p />
</div>
</div>
</div>
<!-- <div id="mimSearch"> -->
<div id="mimContent">
<div class="container hidden-print">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<div id="mimAlertBanner">
</div>
</div>
</div>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
<div id="mimFloatingTocMenu" class="small" role="navigation">
<p>
<span class="h4">#236670</span>
<br />
<strong>Table of Contents</strong>
</p>
<nav>
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
<li role="presentation">
<a href="#title"><strong>Title</strong></a>
</li>
<li role="presentation">
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
</li>
<li role="presentation">
<a href="/clinicalSynopsis/236670"><strong>Clinical Synopsis</strong></a>
</li>
<li role="presentation">
<a href="/phenotypicSeries/PS236670"> <strong>Phenotypic Series</strong> </a>
</li>
<li role="presentation">
<a href="#text"><strong>Text</strong></a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#pathogenesis">Pathogenesis</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#history">History</a>
</li>
<li role="presentation">
<a href="#seeAlso"><strong>See Also</strong></a>
</li>
<li role="presentation">
<a href="#references"><strong>References</strong></a>
</li>
<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
</li>
<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
</li>
<li role="presentation">
<a href="#editHistory"><strong>Edit History</strong></a>
</li>
</ul>
</nav>
</div>
</div>
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
<div id="mimFloatingLinksMenu">
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
<h4 class="panel-title">
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
<div style="display: table-row">
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">External Links</div>
</div>
</a>
</h4>
</div>
</div>
<div id="mimExternalLinksFold" class="collapse in">
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
<span class="panel-title">
<span class="small">
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
<div id="mimEuroGentestFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8726&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Muscle-eye-brain disease&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=8725&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Walker-Warburg syndrome&nbsp;</a></div>
</div>
<div><a href="https://www.diseaseinfosearch.org/x/7436" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=236670[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Muscle-eye-brain disease</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Walker-Warburg syndrome</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/7af6c434-272b-48ac-b33c-6578ca0ae3ea/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0111237" 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/236670" 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://omia.org/OMIA000487/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<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>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:236670" 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>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 111504002<br />
<strong>ORPHA:</strong> 588, 899<br />
<strong>DO:</strong> 0111237<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>
236670
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1
</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">
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED<br />
HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA<br />
HARD SYNDROME<br />
CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME<br />
COD-MD SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/589?start=-3&limit=10&highlight=589">
9q34.13
</a>
</span>
</td>
<td>
<span class="mim-font">
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/236670"> 236670 </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">
POMT1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607423"> 607423 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/236670" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS236670" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/236670" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/236670" 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> 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">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microtia (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278341</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35045004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35045004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.23</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span><br /> -
Absent auditory canals (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278342&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278342</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000413" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000413</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">
- Retinal atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405722004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521694&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521694</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001105</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001105</a>]</span><br /> -
Cataract <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>]</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=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</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 /> -
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 /> -
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 /> -
Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span><br /> -
Microphthalmia (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278343&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278343</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Buphthalmos (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278344&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278344</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204113001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204113001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413728006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413728006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q15.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q15.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.20</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.2</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000557</a>]</span><br /> -
Megalocornea (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278345</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268158009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268158009</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000485" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000485</a>]</span><br /> -
Exophthalmia (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278346</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H05.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H05.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.30</a>]</span><br /> -
Vitreoretinal dysgenesis (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278347</a>]</span><br /> -
Retinal detachment (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278348&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278348</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42059000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42059000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H33.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H33.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/361.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">361.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span><br /> -
Retinal malformations (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278349</a>]</span><br /> -
Retinal dysplasia (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278350&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278350</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95494009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95494009</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007973</a>]</span><br /> -
Anterior chamber malformation (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278351</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007700</a>]</span><br /> -
Hyperplastic primary vitreous (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278352</a>]</span><br /> -
Optic nerve hypoplasia (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278353</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95499004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95499004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.039" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.039</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.43</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000609</a>]</span><br /> -
Coloboma (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278354</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93390002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93390002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000589" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000589</a>]</span><br /> -
Iris malformation or hypoplasia (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278355</a>]</span><br /> -
Peters anomaly (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278356</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204153003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204153003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.4</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000659</a>]</span><br /> -
Blindness (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278357</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span><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">
- Cleft lip (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278358</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span><br /> -
Cleft palate (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278359&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278359</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
</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">
- Hypoplastic genitalia (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278339&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278339</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">
- Renal dysplasia (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278340</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204949001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204949001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.15</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000110</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>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Congenital contractures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0332878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0332878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002803</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002803</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypotonia, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839630&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839630</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006829</a>]</span> <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><br /> -
Muscular dystrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73297009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73297009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G71.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G71.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026850</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003560" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003560</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003560" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003560</a>]</span><br /> -
Virtually no active movement at birth (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278338&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278338</a>]</span><br /> -
Muscle biopsy shows decreased glycosylation of alpha-dystroglycan (DAG1, <a href="/entry/128239">128239</a>)<br />
</span>
</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">
- Mental retardation, profound (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278320&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278320</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31216003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31216003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F73</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002187" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002187</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span><br /> -
Mental retardation, severe (MEB) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278321&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278321</a>]</span> <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">[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, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839630&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839630</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006829</a>]</span> <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><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 /> -
Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
Disorganized brain cytoarchitecture <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856039</a>]</span><br /> -
Ventricular dilatation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6210001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6210001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a>, <a href="https://bioportal.bioontology.org/search?q=C0264733&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264733</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
White matter changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833300</a>]</span><br /> -
Cerebellar hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16026008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16026008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266470&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266470</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span><br /> -
Cerebellar dysplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278322</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007033" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007033</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007033" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007033</a>]</span><br /> -
Brainstem hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842688</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002365</a>]</span><br /> -
Flattening of the pons <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278323</a>]</span><br /> -
Complete or partial absence of the corpus callosum (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007370</a>]</span><br /> -
Occipital encephalocele (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278325</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42376006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42376006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q01.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q01.2</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002085</a>]</span><br /> -
Meningoencephalocele (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278326</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52330001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52330001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q01</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006888" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006888</a>]</span><br /> -
Thin cortical mantle (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278327</a>]</span><br /> -
Cobblestone lissencephaly, type II (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278328&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278328</a>]</span><br /> -
Agyria (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278329</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204036008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204036008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.3</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031882</a>]</span><br /> -
Fused hemispheres (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278330&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278330</a>]</span><br /> -
Posterior fossa cysts (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278331&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278331</a>]</span><br /> -
Dandy-Walker malformation (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278332&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278332</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14447001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14447001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q03.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q03.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span><br /> -
Cerebellar hypoplasia, severe (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278333&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278333</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16026008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16026008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span><br /> -
Virtual absence of pyramidal tracts (WWS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278334</a>]</span><br /> -
Pachygyria with preferential frontoparietal involvement (MEB) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278335&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278335</a>]</span><br /> -
Polymicrogyria (MEB) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278336</a>]</span> <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">[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 /> -
Cerebellar cysts (MEB) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278337&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002350" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002350</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Elevated serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</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">
- Onset prenatally or at birth<br /> -
Severe disorder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64572001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64572001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0012634&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012634</a>]</span><br /> -
Majority of WWS patients die within the first year of life<br /> -
Patients with MEB have less severe features and longer survival<br /> -
Patients with MEB may acquire ability to walk and a few words<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 /> -
Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</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 protein O-mannosyltransferase-1 gene (POMT1, <a href="/entry/607423#0001">607423.0001</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>
Muscular dystrophy-dystroglycanopathy, type A
- <a href="/phenotypicSeries/PS236670">PS236670</a>
- 14 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/1/565?start=-3&limit=10&highlight=565"> 1p34.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253280"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 </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/253280"> 253280 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606822"> POMGNT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606822"> 606822 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1818?start=-3&limit=10&highlight=1818"> 1q42.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615181"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 </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/615181"> 615181 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610194"> B3GALNT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610194"> 610194 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/214?start=-3&limit=10&highlight=214"> 3p22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614830"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 </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/614830"> 614830 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614828"> POMGNT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614828"> 614828 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/313?start=-3&limit=10&highlight=313"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616538"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 </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/616538"> 616538 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128239"> DAG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128239"> 128239 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/319?start=-3&limit=10&highlight=319"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615350"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 </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/615350"> 615350 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615320"> GMPPB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615320"> 615320 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/83?start=-3&limit=10&highlight=83"> 7p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614643"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 </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/614643"> 614643 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614631"> CRPPA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614631"> 614631 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/243?start=-3&limit=10&highlight=243"> 8p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615249"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 </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/615249"> 615249 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615247"> POMK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615247"> 615247 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/389?start=-3&limit=10&highlight=389"> 9q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253800"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 </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/253800"> 253800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607440"> FKTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607440"> 607440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/589?start=-3&limit=10&highlight=589"> 9q34.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/236670"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 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/236670"> 236670 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607423"> POMT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607423"> 607423 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/633?start=-3&limit=10&highlight=633"> 11q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615287"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 </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/615287"> 615287 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605517"> B4GAT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605517"> 605517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/577?start=-3&limit=10&highlight=577"> 12q14.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615041"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 </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/615041"> 615041 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605862"> RXYLT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605862"> 605862 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/414?start=-3&limit=10&highlight=414"> 14q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613150"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 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/613150"> 613150 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607439"> POMT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607439"> 607439 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/859?start=-3&limit=10&highlight=859"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613153"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 </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/613153"> 613153 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606596"> FKRP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606596"> 606596 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/207?start=-3&limit=10&highlight=207"> 22q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613154"> Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 </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/613154"> 613154 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603590"> LARGE1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603590"> 603590 </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 this form of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A1; MDDGA1), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), is caused by homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase-1 (POMT1; <a href="/entry/607423">607423</a>) on chromosome 9q34.</p><p>Mutation in the POMT1 gene can also cause a less severe congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development (type B1; MDDGB1; <a href="/entry/613155">613155</a>) and a limb-girdle muscular dystrophy-dystroglycanopathy (type C1; MDDGC1; <a href="/entry/609308">609308</a>).</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>Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (<a href="#10" class="mim-tip-reference" title="Dobyns, W. B., Pagon, R. A., Armstrong, D., Curry, C. J. R., Greenberg, F., Grix, A., Holmes, L. B., Laxova, R., Michels, V. V., Robinow, M., Zimmerman, R. L. &lt;strong&gt;Diagnostic criteria for Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 32: 195-210, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2494887/&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;2494887&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320213&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="2494887">Dobyns et al., 1989</a>). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (<a href="/entry/128239">128239</a>), collectively known as 'dystroglycanopathies' (<a href="#17" class="mim-tip-reference" title="Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., and 10 others. &lt;strong&gt;Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.&lt;/strong&gt; Brain 130: 2725-2735, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17878207/&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;17878207&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awm212&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="17878207">Godfrey et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17878207+2494887" 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 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A)</em></strong></p><p>
Muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 (<a href="/entry/613150">613150</a>), caused by mutation in the POMT2 gene (<a href="/entry/607439">607439</a>); MDDGA3 (<a href="/entry/253280">253280</a>), caused by mutation in the POMGNT1 gene (<a href="/entry/606822">606822</a>); MDDGA4 (<a href="/entry/253800">253800</a>), caused by mutation in the FKTN gene (<a href="/entry/607440">607440</a>); MDDGA5 (<a href="/entry/613153">613153</a>), caused by mutation in the FKRP gene (<a href="/entry/606596">606596</a>); MDDGA6 (<a href="/entry/613154">613154</a>), caused by mutation in the LARGE gene (<a href="/entry/603590">603590</a>); MDDGA7 (<a href="/entry/614643">614643</a>), caused by mutation in the ISPD gene (CRPPA; <a href="/entry/614631">614631</a>); MDDGA8 (<a href="/entry/614830">614830</a>) caused by mutation in the GTDC2 gene (POMGNT2; <a href="/entry/614828">614828</a>); MDDGA9 (<a href="/entry/616538">616538</a>), caused by mutation in the DAG1 gene (<a href="/entry/128239">128239</a>); MDDGA10 (<a href="/entry/615041">615041</a>), caused by mutation in the TMEM5 gene (RXYLT1; <a href="/entry/605862">605862</a>); MDDGA11 (<a href="/entry/615181">615181</a>), caused by mutation in the B3GALNT2 gene (<a href="/entry/610194">610194</a>); MDDGA12 (<a href="/entry/615249">615249</a>), caused by mutation in the SGK196 gene (POMK; <a href="/entry/615247">615247</a>); MDDGA13 (<a href="/entry/615287">615287</a>), caused by mutation in the B3GNT1 gene (B4GAT1; <a href="/entry/605517">605517</a>); and MDDGA14 (<a href="/entry/615350">615350</a>), caused by mutation in the GMPPB gene (<a href="/entry/615320">615320</a>).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="nomenclature" class="mim-anchor"></a>
<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>The phenotypic variation of dystroglycanopathies covers a wide spectrum, and mutations in different genes known be involved in the glycosylation process have been reported. These phenotypes, here referred to as the 'MDDG' series, range from severe MDDGA, to milder forms of congenital muscular dystrophy (see, e.g., MDDGB1, <a href="/entry/613155">613155</a>), to even milder limb-girdle muscular dystrophy (see, e.g., MDDGC1, <a href="/entry/609308">609308</a>). The crucial aspect in determining phenotypic severity in patients with a dystroglycanopathy is not necessarily which gene is involved, but to what extent the mutation affects glycosylation of DAG1 (reviewed by <a href="#26" class="mim-tip-reference" title="Muntoni, F., Voit, T. &lt;strong&gt;The congenital muscular dystrophies in 2004: a century of exciting progress.&lt;/strong&gt; Neuromusc. Disord. 14: 635-649, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15351421/&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;15351421&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2004.06.009&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="15351421">Muntoni and Voit, 2004</a>; <a href="#25" class="mim-tip-reference" title="Muntoni, F., Torelli, S., Brockington, M. &lt;strong&gt;Muscular dystrophies due to glycosylation defects.&lt;/strong&gt; Neurotherapeutics 5: 627-632, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19019316/&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;19019316&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nurt.2008.08.005&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="19019316">Muntoni et al., 2008</a>; <a href="#24" class="mim-tip-reference" title="Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D&#x27;Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D. &lt;strong&gt;Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.&lt;/strong&gt; Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19299310/&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;19299310&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000346518.68110.60&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="19299310">Mercuri et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19299310+19019316+15351421" 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>Walker-Warburg syndrome was the generally used designation for MDDGA, and appropriately so, since <a href="#31" class="mim-tip-reference" title="Walker, A. E. &lt;strong&gt;Lissencephaly.&lt;/strong&gt; Arch. Neurol. Psychiat. 48: 13-29, 1942."None>Walker (1942)</a> probably first reported a syndrome of lissencephaly, hydrocephalus, microphthalmia, and retinal dysplasia. Although others, particularly <a href="#23" class="mim-tip-reference" title="Krause, A. C. &lt;strong&gt;Congenital encephalo-ophthalmic dysplasia.&lt;/strong&gt; Arch. Ophthal. 36: 387-444, 1946.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21002031/&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;21002031&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1946.00890210395001&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="21002031">Krause (1946)</a> and <a href="#4" class="mim-tip-reference" title="Chemke, J., Czernobilsky, B., Mundel, G., Barishak, Y. R. &lt;strong&gt;A familial syndrome of central nervous system and ocular malformations.&lt;/strong&gt; Clin. Genet. 7: 1-7, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/803883/&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;803883&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1975.tb00356.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="803883">Chemke et al. (1975)</a>, reported cases, the writings of Warburg (<a href="#32" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;The heterogeneity of microphthalmia in the mentally retarded.&lt;/strong&gt; Birth Defects Orig. Art. Ser. VII(3): 136-154, 1971."None>1971</a>, <a href="#33" class="mim-tip-reference" " title="Warburg, M. &lt;strong&gt;Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia: a guide to genetic counselling.&lt;/strong&gt; Hum. Hered. 26: 137-148, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/950240/&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;950240&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000152795&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="950240">1976</a>, <a href="#34" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Hydrocephaly, congenital retinal non-attachment and congenital falciform fold.&lt;/strong&gt; Am. J. Ophthal. 85: 88-94, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/413438/&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;413438&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0002-9394(14)76671-1&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="413438">1978</a>) have made the syndrome particularly well known. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=803883+950240+21002031+413438" 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>WWS has also been referred to as the HARD +/- E syndrome, for hydrocephalus (H), agyria (A), retinal dysplasia (RD), with or without encephalocele (+/-E) (<a href="#10" class="mim-tip-reference" title="Dobyns, W. B., Pagon, R. A., Armstrong, D., Curry, C. J. R., Greenberg, F., Grix, A., Holmes, L. B., Laxova, R., Michels, V. V., Robinow, M., Zimmerman, R. L. &lt;strong&gt;Diagnostic criteria for Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 32: 195-210, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2494887/&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;2494887&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320213&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="2494887">Dobyns et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2494887" 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>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>Historically, the most severe forms of the dystroglycanopathies were described as Walker-Warburg syndrome and muscle-eye-brain disease; these designations have been retained here when used in the literature.</p><p><strong><em>Early Descriptions of Walker-Warburg Syndrome</em></strong></p><p>
The first case of Walker-Warburg syndrome is said to be that reported by <a href="#31" class="mim-tip-reference" title="Walker, A. E. &lt;strong&gt;Lissencephaly.&lt;/strong&gt; Arch. Neurol. Psychiat. 48: 13-29, 1942."None>Walker (1942)</a> and labeled lissencephaly (Greek, 'smooth brain'). In an affected brother and sister, both deceased, <a href="#27" class="mim-tip-reference" title="Pagon, R. A., Chandler, J. W., Collie, W. R., Clarren, S. K., Moon, J., Minkin, S. A., Hall, J. G. &lt;strong&gt;Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD E) syndrome: an autosomal recessive condition.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XIV(6B): 233-241, 1978."None>Pagon et al. (1978)</a> identified abnormal cerebrocortical cytoarchitecture with no organization into the usual 6 laminations as the histologic finding at autopsy.</p><p><a href="#37" class="mim-tip-reference" title="Whitley, C. B., Thompson, T. R., Mastri, A. R., Gorlin, R. J. &lt;strong&gt;Warburg syndrome: lethal neurodysplasia with autosomal recessive inheritance.&lt;/strong&gt; J. Pediat. 102: 547-552, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6339705/&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;6339705&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(83)80182-6&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="6339705">Whitley et al. (1983)</a> reported 2 cases with WWS. In the first, hydrocephalus was diagnosed antenatally by ultrasonography. Cataracts and retinal detachments were found in microphthalmic eyes with normal irides. The infant died on the tenth day. The brain showed complete lack of gyral development and massively distended lateral and third ventricles. Microscopic analysis showed markedly disorganized cytoarchitecture with complete lack of lamination and numerous glial heterotopias. <a href="#37" class="mim-tip-reference" title="Whitley, C. B., Thompson, T. R., Mastri, A. R., Gorlin, R. J. &lt;strong&gt;Warburg syndrome: lethal neurodysplasia with autosomal recessive inheritance.&lt;/strong&gt; J. Pediat. 102: 547-552, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6339705/&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;6339705&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(83)80182-6&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="6339705">Whitley et al. (1983)</a> reviewed 10 cases. Occipital encephalocele was present in 4. Aqueductal stenosis was most frequently the cause of the hydrocephalus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6339705" 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="Burton, B. K., Dillard, R. G., Weaver, R. G. &lt;strong&gt;Walker-Warburg syndrome with cleft lip and cleft palate in two sibs.&lt;/strong&gt; Am. J. Med. Genet. 27: 537-541, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3631127/&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;3631127&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320270306&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="3631127">Burton et al. (1987)</a> reported affected sibs with the additional features of cleft lip, cleft palate, and intrauterine growth retardation, findings not previously noted in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3631127" 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="Gershoni-Baruch, R., Mandel, H., Miller, B., Sujov, P., Braun, J. &lt;strong&gt;Walker-Warburg syndrome with microtia and absent auditory canals.&lt;/strong&gt; Am. J. Med. Genet. 37: 87-91, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2240049/&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;2240049&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320370120&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="2240049">Gershoni-Baruch et al. (1990)</a> reported 2 sibs with Walker-Warburg syndrome. The sister had congenital glaucoma and hydrocephalus; the brother had hydrocephalus, microtia, absent auditory canals, and pale retinas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2240049" 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="#11" class="mim-tip-reference" title="Dobyns, W. B., Pagon, R. A., Armstrong, D., Curry, C. J. R., Greenburg, F., Grix, A., Laxova, R., Robinow, M., Zimmerman, R. A. &lt;strong&gt;New diagnostic criteria for Walker-Warburg syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 39: A59, 1986."None>Dobyns et al. (1986)</a> emphasized congenital muscular dystrophy as a feature of Walker-Warburg syndrome. On the basis of 17 patients, the authors concluded that constant manifestations include type II lissencephaly, retinal abnormalities, and congenital muscular dystrophy. Leopard spot retinopathy was a newly reported finding.</p><p><a href="#29" class="mim-tip-reference" title="Towfighi, J., Sassani, J. W., Suzuki, K., Ladda, R. L. &lt;strong&gt;Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.&lt;/strong&gt; Acta Neuropath. 65: 110-123, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6441438/&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;6441438&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00690464&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="6441438">Towfighi et al. (1984)</a> described 7 children from 4 families with a malformation complex characterized by a triad of brain, eye, and muscle abnormalities. They termed the entity cerebro-ocular dysplasia/muscular dystrophy (COD-MD) syndrome. <a href="#19" class="mim-tip-reference" title="Heggie, P., Grossniklaus, H. E., Roessmann, U., Chou, S. M., Cruse, R. P. &lt;strong&gt;Cerebro-ocular dysplasia-muscular dystrophy syndrome: report of two cases.&lt;/strong&gt; Arch. Ophthal. 105: 520-524, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3105522/&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;3105522&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1987.01060040090040&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="3105522">Heggie et al. (1987)</a> reported a brother and sister with COD-MD syndrome, each of whom died at the age of about 1 year. The principal central nervous system (CNS) features were cerebral and cerebellar agyria-micropolygyria, cortical disorganization, glial-mesodermal proliferation within the leptomeninges, neuronal heterotopias, hypoplasia of nerve tracts, and hydrocephalus. Ocular abnormalities included microphthalmia, cataract, immature anterior chamber angle, retinal dysplasia with or without retinal detachment, persistent hyperplastic primary vitreous, optic nerve hypoplasia, and coloboma. Skeletal muscles showed fiber splitting, variable fiber size, and endomysial fibrosis. <a href="#19" class="mim-tip-reference" title="Heggie, P., Grossniklaus, H. E., Roessmann, U., Chou, S. M., Cruse, R. P. &lt;strong&gt;Cerebro-ocular dysplasia-muscular dystrophy syndrome: report of two cases.&lt;/strong&gt; Arch. Ophthal. 105: 520-524, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3105522/&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;3105522&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1987.01060040090040&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="3105522">Heggie et al. (1987)</a> suggested that COD-MD syndrome may be identical to Walker-Warburg syndrome. <a href="#10" class="mim-tip-reference" title="Dobyns, W. B., Pagon, R. A., Armstrong, D., Curry, C. J. R., Greenberg, F., Grix, A., Holmes, L. B., Laxova, R., Michels, V. V., Robinow, M., Zimmerman, R. L. &lt;strong&gt;Diagnostic criteria for Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 32: 195-210, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2494887/&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;2494887&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320213&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="2494887">Dobyns et al. (1989)</a> also suggested that Walker-Warburg syndrome is similar to, if not identical to, cerebrooculomuscular syndrome (<a href="#19" class="mim-tip-reference" title="Heggie, P., Grossniklaus, H. E., Roessmann, U., Chou, S. M., Cruse, R. P. &lt;strong&gt;Cerebro-ocular dysplasia-muscular dystrophy syndrome: report of two cases.&lt;/strong&gt; Arch. Ophthal. 105: 520-524, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3105522/&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;3105522&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1987.01060040090040&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="3105522">Heggie et al., 1987</a>, <a href="#22" class="mim-tip-reference" title="Korinthenberg, R., Palm, D., Schlake, W., Klein, J. &lt;strong&gt;Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families.&lt;/strong&gt; Europ. J. Pediat. 142: 64-68, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6714263/&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;6714263&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00442595&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="6714263">Korinthenberg et al., 1984</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3105522+2494887+6714263+6441438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Cormand, B., Pihko, H., Bayes, M., Valanne, L., Santavuori, P., Talim, B., Gershoni-Baruch, R., Ahmad, A., van Bokhoven, H., Brunner, H. G., Voit, T., Topaloglu, H., Dobyns, W. B., Lehesjoki, A.-E. &lt;strong&gt;Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.&lt;/strong&gt; Neurology 56: 1059-1069, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11320179/&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;11320179&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.56.8.1059&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="11320179">Cormand et al. (2001)</a> reported 7 patients and 8 fetuses from 8 families who were classified as having WWS based mainly on MRI studies. All of the liveborn probands had cobblestone complex; 3 patients and 2 fetuses had encephaloceles. In 1 family, 3 fetuses with hydrocephalus, severe cobblestone complex, and retinal dysplasia were aborted at 20 to 27 weeks' gestation. Among all patients, ocular changes included microphthalmia, buphthalmos, congenital glaucoma, congenital cataract, corneal clouding, anterior chamber dysgenesis, and retinal dysplasia. Serum creatine kinase was elevated, and muscle biopsies available in 3 infants showed myopathic changes. In 1 patient, the presence of a cobblestone cortex could not be evaluated due to severe hydrocephalus. However, other findings including vermis hypoplasia, flat pons, cerebellar hypoplasia, and a Dandy-Walker malformation together with death in early infancy and high serum creatine kinase, were considered sufficient for a WWS diagnosis. Of the liveborn children with WWS, 1 was living at age 6 months, 2 died at 3 years, and 4 died before age 9 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11320179" 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>POMT1-Related Walker-Warburg Syndrome</em></strong></p><p>
<a href="#2" class="mim-tip-reference" title="Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G. &lt;strong&gt;Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 71: 1033-1043, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12369018/&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;12369018&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/342975&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="12369018">Beltran-Valero de Bernabe et al. (2002)</a> provided follow-up of 1 of the families reported by <a href="#6" class="mim-tip-reference" title="Cormand, B., Pihko, H., Bayes, M., Valanne, L., Santavuori, P., Talim, B., Gershoni-Baruch, R., Ahmad, A., van Bokhoven, H., Brunner, H. G., Voit, T., Topaloglu, H., Dobyns, W. B., Lehesjoki, A.-E. &lt;strong&gt;Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.&lt;/strong&gt; Neurology 56: 1059-1069, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11320179/&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;11320179&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.56.8.1059&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="11320179">Cormand et al. (2001)</a>, who was found to have a homozygous mutation in the POMT1 gene (G76R; <a href="/entry/607423#0001">607423.0001</a>). The parents were first cousins of Turkish origin. After 3 spontaneous abortions, a male was born with severe hydrocephalus with dilatation of the third and fourth ventricles and minimal cortical development, no visible gyri, bifid cerebellum, and hypoplasia of the vermis and of the cerebellar hemispheres. He also had a cerebellar cyst. Microphthalmia on the left and exophthalmia on the right were noted. The genitalia were hypoplastic. Serum creatine kinase levels were highly elevated at more than 2,000 U/l. The patient died at age 7 months. Another affected child, whose DNA was used for genetic analysis, died 15 minutes after birth. She presented with severe hydrocephaly, encephalocele, and bilateral cleft lip. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11320179+12369018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G. &lt;strong&gt;Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 71: 1033-1043, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12369018/&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;12369018&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/342975&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="12369018">Beltran-Valero de Bernabe et al. (2002)</a> also identified a homozygous truncating POMT1 mutation (G76R; <a href="/entry/607423#0001">607423.0001</a>) in affected individuals from 2 consanguineous Turkish families previously reported by <a href="#6" class="mim-tip-reference" title="Cormand, B., Pihko, H., Bayes, M., Valanne, L., Santavuori, P., Talim, B., Gershoni-Baruch, R., Ahmad, A., van Bokhoven, H., Brunner, H. G., Voit, T., Topaloglu, H., Dobyns, W. B., Lehesjoki, A.-E. &lt;strong&gt;Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.&lt;/strong&gt; Neurology 56: 1059-1069, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11320179/&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;11320179&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.56.8.1059&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="11320179">Cormand et al. (2001)</a>. In 1 family, 3 sibs had WWS: a girl who died at age 3 years, and 2 fetuses. The deceased girl had cobblestone lissencephaly, microphthalmia, buphthalmos, megalocornea, glaucoma, and retinal dysplasia. One fetus had an encephalocele. In the second family, there was 1 affected girl who died at age 2 months. She presented with severe hydrocephalic ventricular dilatation, hypoplasia of the cerebellar vermis, cyst formation in the posterior fossa, and a Dandy-Walker-like malformation. Eye malformations included bilateral buphthalmos, bilateral glaucoma, and hypertelorism. Serum creatine kinase levels were significantly increased in all affected patients. Additional patients with POMT1-related WWS had similar features, including hydrocephalus, frontal bossing, ventriculomegaly, cobblestone lissencephaly with agyria and agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, encephalocele, and pachygyria/agyria. Ocular findings included microphthalmia, buphthalmos, retinal dysplasia, and lens opacities. One child had microtia. Serum creatine kinase levels were always significantly increased. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11320179+12369018" 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="#21" class="mim-tip-reference" title="Kim, D.-S., Hayashi, Y. K., Matsumoto, H., Ogawa, M., Noguchi, S., Murakami, N., Sakuta, R., Mochizuki, M., Michele, D. E., Campbell, K. P., Nonaka, I., Nishino, I. &lt;strong&gt;POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.&lt;/strong&gt; Neurology 62: 1009-1011, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15037715/&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;15037715&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000115386.28769.65&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="15037715">Kim et al. (2004)</a> reported a Japanese boy with Walker-Warburg syndrome. Prenatal studies showed a meningoencephalocele. At birth, he showed hypotonia, hydrocephalus, mild microphthalmia, and corneal clouding. Serum creatine kinase levels were markedly elevated. He had markedly delayed milestones, with inability to control his head, roll over, or sit. Brain MRI showed agyric frontal and temporooccipital lobes mixed with pachygyric parietal cortex, as well as hypoplasia of the brainstem and cerebellum. Muscle biopsy showed marked increase in fatty tissue with evidence of necrosis and regeneration, hypoglycosylation of alpha-dystroglycan, and defective laminin binding. <a href="#21" class="mim-tip-reference" title="Kim, D.-S., Hayashi, Y. K., Matsumoto, H., Ogawa, M., Noguchi, S., Murakami, N., Sakuta, R., Mochizuki, M., Michele, D. E., Campbell, K. P., Nonaka, I., Nishino, I. &lt;strong&gt;POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.&lt;/strong&gt; Neurology 62: 1009-1011, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15037715/&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;15037715&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000115386.28769.65&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="15037715">Kim et al. (2004)</a> noted that the patient showed exceptionally long survival for WWS, up to 3.5 years, and thus could be considered to have an intermediate phenotype between WWS and muscle-eye-brain disease (MDDGB1; <a href="/entry/613155">613155</a>), but the presence of a meningoencephalocele was more consistent with WWS. Genetic analysis identified a homozygous deletion in the POMT1 gene (1260delCCT; <a href="/entry/607423#0004">607423.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15037715" 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>POMT1-Related Muscle-Eye-Brain Disease</em></strong></p><p>
<a href="#17" class="mim-tip-reference" title="Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., and 10 others. &lt;strong&gt;Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.&lt;/strong&gt; Brain 130: 2725-2735, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17878207/&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;17878207&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awm212&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="17878207">Godfrey et al. (2007)</a> reported a patient with POMT1-related MEB. Although clinical details were limited, the patient had prenatal onset, increased serum creatine kinase, contractures, congenital glaucoma, microcephaly, and low IQ. Brain MRI showed hydrocephalus, brainstem involvement, white matter abnormalities, cerebellar hypoplasia, and cerebellar cysts. As part of a larger study involving 92 probands with muscular dystrophy and evidence of a dystroglycanopathy, <a href="#17" class="mim-tip-reference" title="Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., and 10 others. &lt;strong&gt;Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.&lt;/strong&gt; Brain 130: 2725-2735, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17878207/&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;17878207&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awm212&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="17878207">Godfrey et al. (2007)</a> defined MEB as congenital muscular dystrophy with brain abnormalities less severe than those seen in WWS. MRI findings in MEB included pachygyria with preferential frontoparietal involvement, polymicrogyria, cerebellar hypoplasia, cerebellar dysplasia, and frequent flattening of the pons and brainstem. Eye abnormalities, such as congenital glaucoma, progressive myopia, retinal atrophy, and juvenile cataracts, were often seen. Rarely, individuals acquired the ability to walk, although this was delayed, and some rare patients learned a few spoken words. The authors noted phenotypic overlap between MEB and Fukuyama congenital muscular dystrophy (FCMD, MDGDB4; <a href="/entry/253800">253800</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17878207" 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="#24" class="mim-tip-reference" title="Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D&#x27;Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D. &lt;strong&gt;Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.&lt;/strong&gt; Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19299310/&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;19299310&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000346518.68110.60&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="19299310">Mercuri et al. (2009)</a> reported 2 Italian patients with POMT1-related MEB. Although clinical details were limited, the patients had microcephaly, mental retardation, and increased serum creatine kinase, and achieved only sitting. One patient also had myopia and seizures. <a href="#24" class="mim-tip-reference" title="Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D&#x27;Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D. &lt;strong&gt;Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.&lt;/strong&gt; Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19299310/&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;19299310&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000346518.68110.60&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="19299310">Mercuri et al. (2009)</a> defined the brain findings of MEB as including pachygyria with preferential frontoparietal involvement, polymicrogyria, cerebellar hypoplasia or dysplasia, and flattening of the pons and brainstem, associated with eye abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299310" 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>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="diagnosis" class="mim-anchor"></a>
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#7" class="mim-tip-reference" title="Crowe, C., Jassani, M., Dickerman, L. &lt;strong&gt;The prenatal diagnosis of Warburg syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 37: A214, 1985."None>Crowe et al. (1985)</a> made the diagnosis of Warburg syndrome on the basis of physical features and autopsy findings: congenital hydrocephalus, bilateral microphthalmos, severe developmental retardation, and multiple brain malformations. <a href="#10" class="mim-tip-reference" title="Dobyns, W. B., Pagon, R. A., Armstrong, D., Curry, C. J. R., Greenberg, F., Grix, A., Holmes, L. B., Laxova, R., Michels, V. V., Robinow, M., Zimmerman, R. L. &lt;strong&gt;Diagnostic criteria for Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 32: 195-210, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2494887/&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;2494887&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320213&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="2494887">Dobyns et al. (1989)</a> reviewed the diagnostic criteria for Walker-Warburg syndrome based on 21 of their own patients and an additional 42 patients from the literature. All patients who were examined for type II lissencephaly, cerebellar malformation, retinal malformation, and congenital muscular dystrophy displayed these abnormalities. Two other abnormalities, dilatation of the cerebral ventricles with or without hydrocephalus and malformation of the anterior chamber of the eye, were helpful but not necessary diagnostic criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2494887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Greenberg, C. R., Jacobs, H. K., Nylen, T. E., Gibb, M., Chodirker, B. N., Moffatt, M., Lacson, A., Halliday, W., Bernier, F., El-Husseini, A., Cameron, A., Wrogemann, K. &lt;strong&gt;Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba neonatal screening programme for Duchenne muscular dystrophy.&lt;/strong&gt; J. Med. Genet. 29: 583-585, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1518026/&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;1518026&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.29.8.583&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="1518026">Greenberg et al. (1992)</a> reported that Walker-Warburg syndrome can give a false-positive test for Duchenne muscular dystrophy (DMD; <a href="/entry/310200">310200</a>)/Becker muscular dystrophy (BMD; <a href="/entry/300376">300376</a>) on administration of the neonatal test of dried filter paper blood spots to check for creatine kinase. This experience emphasized the importance of the myopathy finding in this syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1518026" 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>
By means of ultrasonography, <a href="#7" class="mim-tip-reference" title="Crowe, C., Jassani, M., Dickerman, L. &lt;strong&gt;The prenatal diagnosis of Warburg syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 37: A214, 1985."None>Crowe et al. (1985)</a> prenatally diagnosed WWS in a subsequent pregnancy. <a href="#13" class="mim-tip-reference" title="Farrell, S. A., Toi, A., Leadman, M. L., Davidson, R. G., Caco, C. &lt;strong&gt;Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 28: 619-624, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3122570/&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;3122570&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320280309&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="3122570">Farrell et al. (1987)</a> made the prenatal ultrasonographic diagnosis of this syndrome in a family not known to be at risk of having an affected child: ultrasonography at 28 weeks suggested fetal hydrocephalus; at 30 weeks, marked dilatation of both lateral ventricles and a small encephalocele were demonstrated as well as abnormality of the posterior fossa; at 35 weeks, retinal abnormalities were demonstrated. Prenatal ultrasonographic findings of hydrocephalus and occipital encephalocele were present in a second affected fetus at 18 weeks of gestation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3122570" 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="#28" class="mim-tip-reference" title="Rodgers, B. L., Vanner, L. V., Pai, G. S., Sens, M. A. &lt;strong&gt;Walker-Warburg syndrome: report of three affected sibs.&lt;/strong&gt; Am. J. Med. Genet. 49: 198-201, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8116667/&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;8116667&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320490207&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="8116667">Rodgers et al. (1994)</a> reported 3 affected sibs whose parents were second cousins once removed. Prenatal diagnosis was made in the 2 latter born sibs. In the first sib, clinical and imaging studies demonstrated hydrocephalus, microphthalmia of the left eye, corneal opacity of the right eye, Dandy-Walker malformation, severe hypoplasia or absence of the cerebellar vermis, and severe hypotonia. The second affected fetus was diagnosed at 20 weeks of gestation by the finding of hydrocephalus. In the third affected fetus, hydrocephalus, cerebellar cyst, and a small occipital meningocele were detected by ultrasonography at 19 weeks of gestation. Type II lissencephaly was demonstrated at autopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8116667" 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 prenatal ultrasonography, <a href="#5" class="mim-tip-reference" title="Chitayat, D., Toi, A., Babul, R., Levin, A., Michaud, J., Summers, A., Rutka, J., Blaser, S., Becker, L. E. &lt;strong&gt;Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 56: 351-358, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7604843/&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;7604843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320560403&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="7604843">Chitayat et al. (1995)</a> detected hydrocephalus and retinal nonattachment consistent with Walker-Warburg syndrome at 37 weeks' gestation. <a href="#5" class="mim-tip-reference" title="Chitayat, D., Toi, A., Babul, R., Levin, A., Michaud, J., Summers, A., Rutka, J., Blaser, S., Becker, L. E. &lt;strong&gt;Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 56: 351-358, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7604843/&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;7604843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320560403&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="7604843">Chitayat et al. (1995)</a> provided a tabulation of conditions associated with congenital nonattachment/detachment of the retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7604843" 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="#14" class="mim-tip-reference" title="Gasser, B., Lindner, V., Dreyfus, M., Feidt, X., Leissner, P., Treisser, A., Stoll, C. &lt;strong&gt;Prenatal diagnosis of Walker-Warburg syndrome in three sibs.&lt;/strong&gt; Am. J. Med. Genet. 76: 107-110, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9511971/&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;9511971&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19980305)76:2&lt;107::aid-ajmg1&gt;3.3.co;2-b&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="9511971">Gasser et al. (1998)</a> made the prenatal diagnosis of Walker-Warburg syndrome in 3 sibs. In each of 3 successive pregnancies, the fetus was found to have hydrocephalus by ultrasound. Autopsy of the second infant, a male, showed dilated ventricles, thin cortex, and type II lissencephaly with microscopic evidence of chaotic architecture. Eye examination showed retinal dysplasia. There was no demonstrable muscle change. A third fetus, a female, was found to have hydrocephalus at 13 weeks of gestation. Termination of pregnancy was performed at 20 weeks, and autopsy showed brain, eye, and muscular findings similar to those of the previous case. In addition, cystic changes and stenosis of the pyeloureteral junction were found in the right kidney. Although muscular dystrophy is an additional abnormality in postnatal cases, a lack of demonstrable muscle changes in the fetal period must be emphasized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9511971" 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>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>The first familial occurrence of WWS was that reported by <a href="#4" class="mim-tip-reference" title="Chemke, J., Czernobilsky, B., Mundel, G., Barishak, Y. R. &lt;strong&gt;A familial syndrome of central nervous system and ocular malformations.&lt;/strong&gt; Clin. Genet. 7: 1-7, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/803883/&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;803883&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1975.tb00356.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="803883">Chemke et al. (1975)</a>; 3 of 7 offspring of third-cousin parents were affected, indicating autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=803883" 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="#33" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia: a guide to genetic counselling.&lt;/strong&gt; Hum. Hered. 26: 137-148, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/950240/&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;950240&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000152795&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="950240">Warburg (1976)</a> found reports of 15 cases of the association between hydrocephalus and congenital retinal detachment, and she (<a href="#34" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Hydrocephaly, congenital retinal non-attachment and congenital falciform fold.&lt;/strong&gt; Am. J. Ophthal. 85: 88-94, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/413438/&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;413438&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0002-9394(14)76671-1&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="413438">Warburg, 1978</a>) observed this association in the son of first-cousin parents. Warburg (<a href="#33" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia: a guide to genetic counselling.&lt;/strong&gt; Hum. Hered. 26: 137-148, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/950240/&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;950240&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000152795&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="950240">1976</a>, <a href="#34" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Hydrocephaly, congenital retinal non-attachment and congenital falciform fold.&lt;/strong&gt; Am. J. Ophthal. 85: 88-94, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/413438/&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;413438&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0002-9394(14)76671-1&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="413438">1978</a>) thus proposed autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=950240+413438" 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="#27" class="mim-tip-reference" title="Pagon, R. A., Chandler, J. W., Collie, W. R., Clarren, S. K., Moon, J., Minkin, S. A., Hall, J. G. &lt;strong&gt;Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD E) syndrome: an autosomal recessive condition.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XIV(6B): 233-241, 1978."None>Pagon et al. (1978)</a> reported an affected brother and sister with WWS, and <a href="#1" class="mim-tip-reference" title="Ayme, S., Mattei, J.-F. &lt;strong&gt;HARD (plus or minus) E syndrome: report of a sixth family with support for autosomal-recessive inheritance.&lt;/strong&gt; Am. J. Med. Genet. 14: 759-766, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6405616/&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;6405616&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320140417&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="6405616">Ayme and Mattei (1983)</a> reported 2 affected sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6405616" 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 studying 17 patients, <a href="#11" class="mim-tip-reference" title="Dobyns, W. B., Pagon, R. A., Armstrong, D., Curry, C. J. R., Greenburg, F., Grix, A., Laxova, R., Robinow, M., Zimmerman, R. A. &lt;strong&gt;New diagnostic criteria for Walker-Warburg syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 39: A59, 1986."None>Dobyns et al. (1986)</a> found parental consanguinity in 1 instance as well as 6 affected sibs among the 19 total sibs of the probands. The authors concluded that their findings supported recessive inheritance of WWS.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>By genomewide linkage analysis of 15 consanguineous WWS families. <a href="#2" class="mim-tip-reference" title="Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G. &lt;strong&gt;Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 71: 1033-1043, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12369018/&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;12369018&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/342975&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="12369018">Beltran-Valero de Bernabe et al. (2002)</a> found that 5 showed homozygosity for markers, such as D9S64, at the POMT1 locus on chromosome 9q34. Further studies on the remaining 10 families indicated the existence of at least 3 different WWS loci, indicating genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12369018" 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</em></strong></p><p>
<a href="#8" class="mim-tip-reference" title="Currier, S. C., Lee, C. K., Chang, B. S., Bodell, A. L., Pai, G. S., Job, L., Lagae, L. G., Al-Gazali, L. I., Eyaid, W. M., Enns, G., Dobyns, W. B., Walsh, C. A. &lt;strong&gt;Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 133A: 53-57, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15637732/&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;15637732&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30487&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="15637732">Currier et al. (2005)</a> excluded mutations in the POMT1 gene as the cause of WWS in 28 of 30 unrelated patients of various ethnic and geographic origins. Linkage to the POMT1 locus was excluded in 6 consanguineous families, indicating genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15637732" 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>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="pathogenesis" class="mim-anchor"></a>
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimPathogenesisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<div id="mimPathogenesisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#15" class="mim-tip-reference" title="Gelot, A., Billette de Villemeur, T., Bordarier, C., Ruchoux, M. M., Moraine, C., Ponsot, G. &lt;strong&gt;Developmental aspects of type II lissencephaly: comparative study of dysplastic lesions in fetal and post-natal brains.&lt;/strong&gt; Acta Neuropath. 89: 72-84, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7709734/&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;7709734&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00294262&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="7709734">Gelot et al. (1995)</a> reported detailed neuropathologic studies of 5 unrelated cases of cobblestone lissencephaly (type II) from 3 fetuses and 2 infants in an effort to determine the developmental course of the cerebral lesions. The authors believed that all the features could be related to a primitive meningeal pathology, a type of neurocristopathy. They found evidence for 2 distinct developmental events: first, an early disturbance in cortex formation resulting from a disorder of radial migration and from disruption of the pial barrier; and second, a later perturbation of the organization of the cerebral surface. Muscle pathology was not examined in any of these 5 cases and the eyes were examined in only 1, in which there was evidence of microphthalmia and abnormalities in the anterior chamber. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7709734" 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="Voit, T., Sewry, C. A., Meyer, K., Hermann, R., Straub, V., Muntoni, F., Kahn, T., Unsold, R., Helliwell, T. R., Appleton, R., Lenard, H. G. &lt;strong&gt;Preserved merosin M-chain (or laminin-alpha(2)) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.&lt;/strong&gt; Neuropediatrics 26: 148-155, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7477753/&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;7477753&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2007-979745&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="7477753">Voit et al. (1995)</a> demonstrated preserved merosin M chain (see LAMA2, <a href="/entry/156225">156225</a>) expression in skeletal muscle specimens from 5 patients with Walker-Warburg syndrome. This preservation distinguished Walker-Warburg syndrome from congenital muscular dystrophy with central hypomyelination (MDC1A; <a href="/entry/607855">607855</a>) in which merosin is completely absent. In 2 unrelated children with WWS, <a href="#35" class="mim-tip-reference" title="Wewer, U. M., Durkin, M. E., Zhang, X., Laursen, H., Nielsen, N. H., Towfighi, J., Engvall, E., Albrechtsen, R. &lt;strong&gt;Laminin beta-2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebroocular dysplasia-muscular dystrophy).&lt;/strong&gt; Neurology 45: 2099-2101, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7501167/&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;7501167&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.45.11.2099&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="7501167">Wewer et al. (1995)</a> found decreased expression of laminin-2 in skeletal muscle membranes, with normal expression in smooth muscle and peripheral nerve. They also found severely reduced alpha-sarcoglycan (SGCA; <a href="/entry/600119">600119</a>) immunoreactivity. Both deficiencies were believed to be secondary. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7477753+7501167" 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 review, <a href="#26" class="mim-tip-reference" title="Muntoni, F., Voit, T. &lt;strong&gt;The congenital muscular dystrophies in 2004: a century of exciting progress.&lt;/strong&gt; Neuromusc. Disord. 14: 635-649, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15351421/&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;15351421&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2004.06.009&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="15351421">Muntoni and Voit (2004)</a> noted that dystroglycan is an important structural protein that links cells to the extracellular matrix, and is an essential component of the basement membrane. Hypoglycosylation of alpha-dystroglycan results in the disruption of the dystrophin (DMD; <a href="/entry/300377">300377</a>)-glycoprotein complex in skeletal muscle and can perturb glial and neuronal interactions, resulting in abnormal migration of neurons in the brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15351421" 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>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>By candidate gene analysis in combination with homozygosity mapping in 15 consanguineous families with WWS, <a href="#2" class="mim-tip-reference" title="Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G. &lt;strong&gt;Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 71: 1033-1043, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12369018/&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;12369018&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/342975&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="12369018">Beltran-Valero de Bernabe et al. (2002)</a> identified homozygous or compound heterozygous mutations in the POMT1 gene in 6 of 30 probands (see, e.g., <a href="/entry/607423#0001">607423.0001</a>-<a href="/entry/607423#0003">607423.0003</a>). Three of the families had been reported by <a href="#6" class="mim-tip-reference" title="Cormand, B., Pihko, H., Bayes, M., Valanne, L., Santavuori, P., Talim, B., Gershoni-Baruch, R., Ahmad, A., van Bokhoven, H., Brunner, H. G., Voit, T., Topaloglu, H., Dobyns, W. B., Lehesjoki, A.-E. &lt;strong&gt;Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.&lt;/strong&gt; Neurology 56: 1059-1069, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11320179/&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;11320179&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.56.8.1059&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="11320179">Cormand et al. (2001)</a>. Immunohistochemical analysis of muscle from patients with POMT1 mutations corroborated the O-mannosylation defect, as judged by the absence of glycosylation of DAG1. The findings suggested that mutations in the POMT1 gene account for approximately 20% of cases of WWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11320179+12369018" 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 Japanese boy with Walker-Warburg syndrome, <a href="#21" class="mim-tip-reference" title="Kim, D.-S., Hayashi, Y. K., Matsumoto, H., Ogawa, M., Noguchi, S., Murakami, N., Sakuta, R., Mochizuki, M., Michele, D. E., Campbell, K. P., Nonaka, I., Nishino, I. &lt;strong&gt;POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.&lt;/strong&gt; Neurology 62: 1009-1011, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15037715/&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;15037715&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000115386.28769.65&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="15037715">Kim et al. (2004)</a> identified a homozygous 3-bp deletion in the POMT1 gene (<a href="/entry/607423#0004">607423.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15037715" 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="#8" class="mim-tip-reference" title="Currier, S. C., Lee, C. K., Chang, B. S., Bodell, A. L., Pai, G. S., Job, L., Lagae, L. G., Al-Gazali, L. I., Eyaid, W. M., Enns, G., Dobyns, W. B., Walsh, C. A. &lt;strong&gt;Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 133A: 53-57, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15637732/&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;15637732&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30487&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="15637732">Currier et al. (2005)</a> identified heterozygous POMT1 mutations in 2 of 30 unrelated patients with WWS, but a second POMT1 mutation was not identified in either patient. The authors concluded that mutations in the POMT1 gene are an uncommon cause of WWS, identified in only 7% of their patient sample. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15637732" 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 large study of 92 probands with muscular dystrophy and evidence of a dystroglycanopathy, <a href="#17" class="mim-tip-reference" title="Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., and 10 others. &lt;strong&gt;Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.&lt;/strong&gt; Brain 130: 2725-2735, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17878207/&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;17878207&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awm212&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="17878207">Godfrey et al. (2007)</a> found that 1 patient with an MEB-like phenotype had a homozygous 2-bp deletion in the POMT1 gene (2179delTC; <a href="/entry/607423#0015">607423.0015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17878207" 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 large study of 81 Italian patients with a dystroglycanopathy, <a href="#24" class="mim-tip-reference" title="Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D&#x27;Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D. &lt;strong&gt;Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.&lt;/strong&gt; Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19299310/&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;19299310&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000346518.68110.60&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="19299310">Mercuri et al. (2009)</a> found that 2 with MEB had mutations in the POMT1 gene (<a href="/entry/607423#0016">607423.0016</a>-<a href="/entry/607423#0018">607423.0018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299310" 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>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="history" class="mim-anchor"></a>
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#38" class="mim-tip-reference" title="Williams, R. S., Swisher, C. N., Jennings, M., Ambler, M., Caviness, V. S., Jr. &lt;strong&gt;Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis.&lt;/strong&gt; Neurology 34: 1531-1541, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6504323/&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;6504323&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.34.12.1531&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="6504323">Williams et al. (1984)</a> reported an affected brother and sister who died on postnatal day 53 and in the third month. Histologic studies showed a myopathy, and brain findings suggested a sclerosing meningoencephalitis active through the second and third trimesters. Indeed, the authors favored a nongenetic cause, i.e., 'an acquired agent...transmitted transplacentally through consecutive pregnancies.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6504323" 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="#20" class="mim-tip-reference" title="Karadeniz, N., Zenciroglu, A., Yavuz Gurer, Y. K., Senbil, N., Karadeniz, Y., Topalolu, H. &lt;strong&gt;De novo translocation t(5;6)(q35;q21) in an infant with Walker-Warburg syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 109: 67-69, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11932995/&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;11932995&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10286&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="11932995">Karadeniz et al. (2002)</a> reported an infant who had clinical signs of Walker-Warburg syndrome, including congenital muscular dystrophy, lissencephaly, ventricular dilatation and hydrocephalus, hypoplasia of cerebellar vermis, bilateral megalocornea and optic atrophy with buphthalmos, and corneal clouding. An apparently balanced de novo reciprocal translocation, t(5;6)(q35;q21), was detected. However, because Walker-Warburg syndrome is a recessive condition, it would be necessary to have a separate mutation on the other allele if the gene for this disorder is located at 1 of the 2 breakpoints. The authors pointed out that laminin chain alpha-4 (LAMA4; <a href="/entry/600133">600133</a>) is located on 6q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11932995" 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>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Dobyns1985" class="mim-tip-reference" title="Dobyns, W. B., Kirkpatrick, J. B., Hittner, H. M., Roberts, R. M., Kretzer, F. C. &lt;strong&gt;Syndromes with lissencephaly II.&lt;/strong&gt; Am. J. Med. Genet. 22: 157-195, 1985.">Dobyns et al. (1985)</a>; <a href="#Donnai1986" class="mim-tip-reference" title="Donnai, D., Farndon, P. A. &lt;strong&gt;Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome).&lt;/strong&gt; J. Med. Genet. 23: 200-203, 1986.">Donnai and Farndon (1986)</a>; <a href="#Whitley1981" class="mim-tip-reference" title="Whitley, C. B., Thompson, T. R., Mastri, A. R., Gorlin, R. J. &lt;strong&gt;HARD syndrome: a lethal neurodysplasia with autosomal recessive inheritance. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 33: 94A, 1981.">Whitley et al.
(1981)</a>; <a href="#Winter1981" class="mim-tip-reference" title="Winter, R. M., Garner, A. &lt;strong&gt;Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.&lt;/strong&gt; J. Med. Genet. 18: 314-317, 1981.">Winter and Garner (1981)</a>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Ayme1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ayme, S., Mattei, J.-F.
<strong>HARD (plus or minus) E syndrome: report of a sixth family with support for autosomal-recessive inheritance.</strong>
Am. J. Med. Genet. 14: 759-766, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6405616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6405616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6405616" 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.1320140417" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Beltran-Valero de Bernabe2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G.
<strong>Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.</strong>
Am. J. Hum. Genet. 71: 1033-1043, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12369018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12369018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12369018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/342975" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Burton1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Burton, B. K., Dillard, R. G., Weaver, R. G.
<strong>Walker-Warburg syndrome with cleft lip and cleft palate in two sibs.</strong>
Am. J. Med. Genet. 27: 537-541, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3631127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3631127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3631127" 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.1320270306" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Chemke1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chemke, J., Czernobilsky, B., Mundel, G., Barishak, Y. R.
<strong>A familial syndrome of central nervous system and ocular malformations.</strong>
Clin. Genet. 7: 1-7, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/803883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">803883</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=803883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1975.tb00356.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Chitayat1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chitayat, D., Toi, A., Babul, R., Levin, A., Michaud, J., Summers, A., Rutka, J., Blaser, S., Becker, L. E.
<strong>Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome.</strong>
Am. J. Med. Genet. 56: 351-358, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7604843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7604843</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7604843" 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.1320560403" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Cormand2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cormand, B., Pihko, H., Bayes, M., Valanne, L., Santavuori, P., Talim, B., Gershoni-Baruch, R., Ahmad, A., van Bokhoven, H., Brunner, H. G., Voit, T., Topaloglu, H., Dobyns, W. B., Lehesjoki, A.-E.
<strong>Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.</strong>
Neurology 56: 1059-1069, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11320179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11320179</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11320179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.56.8.1059" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Crowe1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Crowe, C., Jassani, M., Dickerman, L.
<strong>The prenatal diagnosis of Warburg syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 37: A214, 1985.
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Currier2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Currier, S. C., Lee, C. K., Chang, B. S., Bodell, A. L., Pai, G. S., Job, L., Lagae, L. G., Al-Gazali, L. I., Eyaid, W. M., Enns, G., Dobyns, W. B., Walsh, C. A.
<strong>Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.</strong>
Am. J. Med. Genet. 133A: 53-57, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15637732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15637732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15637732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.30487" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Dobyns1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dobyns, W. B., Kirkpatrick, J. B., Hittner, H. M., Roberts, R. M., Kretzer, F. C.
<strong>Syndromes with lissencephaly II.</strong>
Am. J. Med. Genet. 22: 157-195, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3931474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3931474</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3931474" 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.1320220118" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Dobyns1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dobyns, W. B., Pagon, R. A., Armstrong, D., Curry, C. J. R., Greenberg, F., Grix, A., Holmes, L. B., Laxova, R., Michels, V. V., Robinow, M., Zimmerman, R. L.
<strong>Diagnostic criteria for Walker-Warburg syndrome.</strong>
Am. J. Med. Genet. 32: 195-210, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2494887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2494887</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2494887" 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.1320320213" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Dobyns1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dobyns, W. B., Pagon, R. A., Armstrong, D., Curry, C. J. R., Greenburg, F., Grix, A., Laxova, R., Robinow, M., Zimmerman, R. A.
<strong>New diagnostic criteria for Walker-Warburg syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 39: A59, 1986.
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Donnai1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Donnai, D., Farndon, P. A.
<strong>Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome).</strong>
J. Med. Genet. 23: 200-203, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3088278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3088278</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3088278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.23.3.200" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Farrell1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Farrell, S. A., Toi, A., Leadman, M. L., Davidson, R. G., Caco, C.
<strong>Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome.</strong>
Am. J. Med. Genet. 28: 619-624, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3122570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3122570</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3122570" 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.1320280309" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Gasser1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gasser, B., Lindner, V., Dreyfus, M., Feidt, X., Leissner, P., Treisser, A., Stoll, C.
<strong>Prenatal diagnosis of Walker-Warburg syndrome in three sibs.</strong>
Am. J. Med. Genet. 76: 107-110, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9511971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9511971</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9511971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19980305)76:2&lt;107::aid-ajmg1&gt;3.3.co;2-b" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Gelot1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gelot, A., Billette de Villemeur, T., Bordarier, C., Ruchoux, M. M., Moraine, C., Ponsot, G.
<strong>Developmental aspects of type II lissencephaly: comparative study of dysplastic lesions in fetal and post-natal brains.</strong>
Acta Neuropath. 89: 72-84, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7709734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7709734</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7709734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00294262" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Gershoni-Baruch1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gershoni-Baruch, R., Mandel, H., Miller, B., Sujov, P., Braun, J.
<strong>Walker-Warburg syndrome with microtia and absent auditory canals.</strong>
Am. J. Med. Genet. 37: 87-91, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2240049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2240049</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2240049" 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.1320370120" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Godfrey2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., and 10 others.
<strong>Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.</strong>
Brain 130: 2725-2735, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17878207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17878207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17878207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/brain/awm212" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Greenberg1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greenberg, C. R., Jacobs, H. K., Nylen, T. E., Gibb, M., Chodirker, B. N., Moffatt, M., Lacson, A., Halliday, W., Bernier, F., El-Husseini, A., Cameron, A., Wrogemann, K.
<strong>Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba neonatal screening programme for Duchenne muscular dystrophy.</strong>
J. Med. Genet. 29: 583-585, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1518026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1518026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1518026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.29.8.583" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Heggie1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heggie, P., Grossniklaus, H. E., Roessmann, U., Chou, S. M., Cruse, R. P.
<strong>Cerebro-ocular dysplasia-muscular dystrophy syndrome: report of two cases.</strong>
Arch. Ophthal. 105: 520-524, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3105522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3105522</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3105522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archopht.1987.01060040090040" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Karadeniz2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Karadeniz, N., Zenciroglu, A., Yavuz Gurer, Y. K., Senbil, N., Karadeniz, Y., Topalolu, H.
<strong>De novo translocation t(5;6)(q35;q21) in an infant with Walker-Warburg syndrome. (Letter)</strong>
Am. J. Med. Genet. 109: 67-69, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11932995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11932995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11932995" 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.10286" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Kim2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kim, D.-S., Hayashi, Y. K., Matsumoto, H., Ogawa, M., Noguchi, S., Murakami, N., Sakuta, R., Mochizuki, M., Michele, D. E., Campbell, K. P., Nonaka, I., Nishino, I.
<strong>POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.</strong>
Neurology 62: 1009-1011, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15037715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15037715</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15037715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000115386.28769.65" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Korinthenberg1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Korinthenberg, R., Palm, D., Schlake, W., Klein, J.
<strong>Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families.</strong>
Europ. J. Pediat. 142: 64-68, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6714263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6714263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6714263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00442595" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Krause1946" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Krause, A. C.
<strong>Congenital encephalo-ophthalmic dysplasia.</strong>
Arch. Ophthal. 36: 387-444, 1946.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21002031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21002031</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21002031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archopht.1946.00890210395001" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Mercuri2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D.
<strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong>
Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299310</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000346518.68110.60" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Muntoni2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Muntoni, F., Torelli, S., Brockington, M.
<strong>Muscular dystrophies due to glycosylation defects.</strong>
Neurotherapeutics 5: 627-632, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19019316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19019316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19019316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.nurt.2008.08.005" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Muntoni2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Muntoni, F., Voit, T.
<strong>The congenital muscular dystrophies in 2004: a century of exciting progress.</strong>
Neuromusc. Disord. 14: 635-649, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15351421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15351421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15351421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.nmd.2004.06.009" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Pagon1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pagon, R. A., Chandler, J. W., Collie, W. R., Clarren, S. K., Moon, J., Minkin, S. A., Hall, J. G.
<strong>Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD E) syndrome: an autosomal recessive condition.</strong>
Birth Defects Orig. Art. Ser. XIV(6B): 233-241, 1978.
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Rodgers1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rodgers, B. L., Vanner, L. V., Pai, G. S., Sens, M. A.
<strong>Walker-Warburg syndrome: report of three affected sibs.</strong>
Am. J. Med. Genet. 49: 198-201, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8116667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8116667</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8116667" 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.1320490207" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="Towfighi1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Towfighi, J., Sassani, J. W., Suzuki, K., Ladda, R. L.
<strong>Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.</strong>
Acta Neuropath. 65: 110-123, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6441438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6441438</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6441438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00690464" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Voit1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Voit, T., Sewry, C. A., Meyer, K., Hermann, R., Straub, V., Muntoni, F., Kahn, T., Unsold, R., Helliwell, T. R., Appleton, R., Lenard, H. G.
<strong>Preserved merosin M-chain (or laminin-alpha(2)) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.</strong>
Neuropediatrics 26: 148-155, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1055/s-2007-979745" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Walker1942" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Walker, A. E.
<strong>Lissencephaly.</strong>
Arch. Neurol. Psychiat. 48: 13-29, 1942.
</p>
</div>
</li>
<li>
<a id="32" class="mim-anchor"></a>
<a id="Warburg1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Warburg, M.
<strong>The heterogeneity of microphthalmia in the mentally retarded.</strong>
Birth Defects Orig. Art. Ser. VII(3): 136-154, 1971.
</p>
</div>
</li>
<li>
<a id="33" class="mim-anchor"></a>
<a id="Warburg1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Warburg, M.
<strong>Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia: a guide to genetic counselling.</strong>
Hum. Hered. 26: 137-148, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/950240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">950240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=950240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000152795" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="34" class="mim-anchor"></a>
<a id="Warburg1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Warburg, M.
<strong>Hydrocephaly, congenital retinal non-attachment and congenital falciform fold.</strong>
Am. J. Ophthal. 85: 88-94, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/413438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">413438</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=413438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0002-9394(14)76671-1" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="35" class="mim-anchor"></a>
<a id="Wewer1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wewer, U. M., Durkin, M. E., Zhang, X., Laursen, H., Nielsen, N. H., Towfighi, J., Engvall, E., Albrechtsen, R.
<strong>Laminin beta-2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebroocular dysplasia-muscular dystrophy).</strong>
Neurology 45: 2099-2101, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7501167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7501167</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7501167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.45.11.2099" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="36" class="mim-anchor"></a>
<a id="Whitley1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Whitley, C. B., Thompson, T. R., Mastri, A. R., Gorlin, R. J.
<strong>HARD syndrome: a lethal neurodysplasia with autosomal recessive inheritance. (Abstract)</strong>
Am. J. Hum. Genet. 33: 94A, 1981.
</p>
</div>
</li>
<li>
<a id="37" class="mim-anchor"></a>
<a id="Whitley1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Whitley, C. B., Thompson, T. R., Mastri, A. R., Gorlin, R. J.
<strong>Warburg syndrome: lethal neurodysplasia with autosomal recessive inheritance.</strong>
J. Pediat. 102: 547-552, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6339705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6339705</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6339705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(83)80182-6" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="38" class="mim-anchor"></a>
<a id="Williams1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Williams, R. S., Swisher, C. N., Jennings, M., Ambler, M., Caviness, V. S., Jr.
<strong>Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis.</strong>
Neurology 34: 1531-1541, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6504323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6504323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6504323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.34.12.1531" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="39" class="mim-anchor"></a>
<a id="Winter1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Winter, R. M., Garner, A.
<strong>Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.</strong>
J. Med. Genet. 18: 314-317, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7277429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7277429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7277429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.18.4.314" target="_blank">Full Text</a>]
</p>
</div>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="contributors" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 1/29/2013
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 12/4/2009<br>Cassandra L. Kniffin - updated : 6/29/2009<br>Marla J. F. O'Neill - updated : 7/10/2008<br>Cassandra L. Kniffin - updated : 8/21/2007<br>Cassandra L. Kniffin - updated : 3/3/2006<br>Marla J. F. O'Neill - updated : 1/4/2006<br>Cassandra L. Kniffin - updated : 10/13/2005<br>Cassandra L. Kniffin - updated : 8/27/2004<br>Cassandra L. Kniffin - updated : 1/6/2004<br>Victor A. McKusick - updated : 12/23/2002<br>Cassandra L. Kniffin - updated : 11/27/2002<br>Victor A. McKusick - updated : 4/29/2002<br>Cassandra L. Kniffin - reorganized : 3/14/2002<br>Victor A. McKusick - updated : 3/26/1998<br>Orest Hurko - updated : 3/6/1996<br>Orest Hurko - updated : 2/5/1996<br>Orest Hurko - updated : 8/11/1995
</span>
</div>
</div>
</div>
<div>
<a id="creationDate" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/3/1986
</span>
</div>
</div>
</div>
<div>
<a id="editHistory" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 12/14/2020
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseEditHistory">
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 08/19/2020<br>carol : 10/09/2019<br>carol : 10/08/2019<br>carol : 01/16/2018<br>alopez : 09/04/2015<br>ckniffin : 9/2/2015<br>carol : 10/7/2014<br>mcolton : 10/6/2014<br>carol : 10/2/2014<br>ckniffin : 7/31/2013<br>alopez : 6/28/2013<br>ckniffin : 6/25/2013<br>alopez : 6/11/2013<br>alopez : 6/10/2013<br>carol : 4/19/2013<br>ckniffin : 4/17/2013<br>carol : 1/30/2013<br>ckniffin : 1/29/2013<br>carol : 9/25/2012<br>ckniffin : 9/24/2012<br>carol : 5/16/2012<br>ckniffin : 5/15/2012<br>carol : 11/10/2010<br>ckniffin : 11/8/2010<br>ckniffin : 12/8/2009<br>ckniffin : 12/4/2009<br>wwang : 7/29/2009<br>ckniffin : 6/29/2009<br>wwang : 6/23/2009<br>wwang : 5/27/2009<br>wwang : 7/11/2008<br>terry : 7/10/2008<br>carol : 11/26/2007<br>wwang : 11/26/2007<br>wwang : 8/30/2007<br>wwang : 8/23/2007<br>ckniffin : 8/21/2007<br>wwang : 5/24/2006<br>ckniffin : 5/18/2006<br>wwang : 3/10/2006<br>ckniffin : 3/3/2006<br>wwang : 1/9/2006<br>terry : 1/4/2006<br>wwang : 10/26/2005<br>wwang : 10/24/2005<br>ckniffin : 10/13/2005<br>ckniffin : 4/13/2005<br>ckniffin : 8/27/2004<br>tkritzer : 1/13/2004<br>ckniffin : 1/6/2004<br>ckniffin : 6/10/2003<br>carol : 12/23/2002<br>terry : 12/23/2002<br>carol : 12/6/2002<br>carol : 12/6/2002<br>tkritzer : 12/6/2002<br>ckniffin : 11/27/2002<br>cwells : 5/28/2002<br>cwells : 5/16/2002<br>terry : 4/29/2002<br>carol : 3/20/2002<br>ckniffin : 3/20/2002<br>ckniffin : 3/14/2002<br>ckniffin : 3/14/2002<br>alopez : 7/12/2001<br>dholmes : 4/17/1998<br>carol : 4/6/1998<br>joanna : 3/27/1998<br>joanna : 3/26/1998<br>carol : 6/20/1997<br>terry : 4/15/1996<br>terry : 4/15/1996<br>mark : 3/6/1996<br>terry : 3/1/1996<br>terry : 2/29/1996<br>mark : 2/5/1996<br>terry : 1/30/1996<br>terry : 5/25/1995<br>carol : 2/17/1995<br>davew : 6/2/1994<br>mimadm : 2/19/1994<br>carol : 11/23/1993
</span>
</div>
</div>
</div>
</div>
</div>
</div>
<div class="container visible-print-block">
<div class="row">
<div class="col-md-8 col-md-offset-1">
<div>
<div>
<h3>
<span class="mim-font">
<strong>#</strong> 236670
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED<br />
HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA<br />
HARD SYNDROME<br />
CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME<br />
COD-MD SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 111504002; &nbsp;
<strong>ORPHA:</strong> 588, 899; &nbsp;
<strong>DO:</strong> 0111237; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed 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">
9q34.13
</span>
</td>
<td>
<span class="mim-font">
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
</span>
</td>
<td>
<span class="mim-font">
236670
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
POMT1
</span>
</td>
<td>
<span class="mim-font">
607423
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because this form of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A1; MDDGA1), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), is caused by homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase-1 (POMT1; 607423) on chromosome 9q34.</p><p>Mutation in the POMT1 gene can also cause a less severe congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development (type B1; MDDGB1; 613155) and a limb-girdle muscular dystrophy-dystroglycanopathy (type C1; MDDGC1; 609308).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). </p><p><strong><em>Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A)</em></strong></p><p>
Muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 (613150), caused by mutation in the POMT2 gene (607439); MDDGA3 (253280), caused by mutation in the POMGNT1 gene (606822); MDDGA4 (253800), caused by mutation in the FKTN gene (607440); MDDGA5 (613153), caused by mutation in the FKRP gene (606596); MDDGA6 (613154), caused by mutation in the LARGE gene (603590); MDDGA7 (614643), caused by mutation in the ISPD gene (CRPPA; 614631); MDDGA8 (614830) caused by mutation in the GTDC2 gene (POMGNT2; 614828); MDDGA9 (616538), caused by mutation in the DAG1 gene (128239); MDDGA10 (615041), caused by mutation in the TMEM5 gene (RXYLT1; 605862); MDDGA11 (615181), caused by mutation in the B3GALNT2 gene (610194); MDDGA12 (615249), caused by mutation in the SGK196 gene (POMK; 615247); MDDGA13 (615287), caused by mutation in the B3GNT1 gene (B4GAT1; 605517); and MDDGA14 (615350), caused by mutation in the GMPPB gene (615320).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The phenotypic variation of dystroglycanopathies covers a wide spectrum, and mutations in different genes known be involved in the glycosylation process have been reported. These phenotypes, here referred to as the 'MDDG' series, range from severe MDDGA, to milder forms of congenital muscular dystrophy (see, e.g., MDDGB1, 613155), to even milder limb-girdle muscular dystrophy (see, e.g., MDDGC1, 609308). The crucial aspect in determining phenotypic severity in patients with a dystroglycanopathy is not necessarily which gene is involved, but to what extent the mutation affects glycosylation of DAG1 (reviewed by Muntoni and Voit, 2004; Muntoni et al., 2008; Mercuri et al., 2009). </p><p>Walker-Warburg syndrome was the generally used designation for MDDGA, and appropriately so, since Walker (1942) probably first reported a syndrome of lissencephaly, hydrocephalus, microphthalmia, and retinal dysplasia. Although others, particularly Krause (1946) and Chemke et al. (1975), reported cases, the writings of Warburg (1971, 1976, 1978) have made the syndrome particularly well known. </p><p>WWS has also been referred to as the HARD +/- E syndrome, for hydrocephalus (H), agyria (A), retinal dysplasia (RD), with or without encephalocele (+/-E) (Dobyns et al., 1989). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Historically, the most severe forms of the dystroglycanopathies were described as Walker-Warburg syndrome and muscle-eye-brain disease; these designations have been retained here when used in the literature.</p><p><strong><em>Early Descriptions of Walker-Warburg Syndrome</em></strong></p><p>
The first case of Walker-Warburg syndrome is said to be that reported by Walker (1942) and labeled lissencephaly (Greek, 'smooth brain'). In an affected brother and sister, both deceased, Pagon et al. (1978) identified abnormal cerebrocortical cytoarchitecture with no organization into the usual 6 laminations as the histologic finding at autopsy.</p><p>Whitley et al. (1983) reported 2 cases with WWS. In the first, hydrocephalus was diagnosed antenatally by ultrasonography. Cataracts and retinal detachments were found in microphthalmic eyes with normal irides. The infant died on the tenth day. The brain showed complete lack of gyral development and massively distended lateral and third ventricles. Microscopic analysis showed markedly disorganized cytoarchitecture with complete lack of lamination and numerous glial heterotopias. Whitley et al. (1983) reviewed 10 cases. Occipital encephalocele was present in 4. Aqueductal stenosis was most frequently the cause of the hydrocephalus. </p><p>Burton et al. (1987) reported affected sibs with the additional features of cleft lip, cleft palate, and intrauterine growth retardation, findings not previously noted in this disorder. </p><p>Gershoni-Baruch et al. (1990) reported 2 sibs with Walker-Warburg syndrome. The sister had congenital glaucoma and hydrocephalus; the brother had hydrocephalus, microtia, absent auditory canals, and pale retinas. </p><p>Dobyns et al. (1986) emphasized congenital muscular dystrophy as a feature of Walker-Warburg syndrome. On the basis of 17 patients, the authors concluded that constant manifestations include type II lissencephaly, retinal abnormalities, and congenital muscular dystrophy. Leopard spot retinopathy was a newly reported finding.</p><p>Towfighi et al. (1984) described 7 children from 4 families with a malformation complex characterized by a triad of brain, eye, and muscle abnormalities. They termed the entity cerebro-ocular dysplasia/muscular dystrophy (COD-MD) syndrome. Heggie et al. (1987) reported a brother and sister with COD-MD syndrome, each of whom died at the age of about 1 year. The principal central nervous system (CNS) features were cerebral and cerebellar agyria-micropolygyria, cortical disorganization, glial-mesodermal proliferation within the leptomeninges, neuronal heterotopias, hypoplasia of nerve tracts, and hydrocephalus. Ocular abnormalities included microphthalmia, cataract, immature anterior chamber angle, retinal dysplasia with or without retinal detachment, persistent hyperplastic primary vitreous, optic nerve hypoplasia, and coloboma. Skeletal muscles showed fiber splitting, variable fiber size, and endomysial fibrosis. Heggie et al. (1987) suggested that COD-MD syndrome may be identical to Walker-Warburg syndrome. Dobyns et al. (1989) also suggested that Walker-Warburg syndrome is similar to, if not identical to, cerebrooculomuscular syndrome (Heggie et al., 1987, Korinthenberg et al., 1984). </p><p>Cormand et al. (2001) reported 7 patients and 8 fetuses from 8 families who were classified as having WWS based mainly on MRI studies. All of the liveborn probands had cobblestone complex; 3 patients and 2 fetuses had encephaloceles. In 1 family, 3 fetuses with hydrocephalus, severe cobblestone complex, and retinal dysplasia were aborted at 20 to 27 weeks' gestation. Among all patients, ocular changes included microphthalmia, buphthalmos, congenital glaucoma, congenital cataract, corneal clouding, anterior chamber dysgenesis, and retinal dysplasia. Serum creatine kinase was elevated, and muscle biopsies available in 3 infants showed myopathic changes. In 1 patient, the presence of a cobblestone cortex could not be evaluated due to severe hydrocephalus. However, other findings including vermis hypoplasia, flat pons, cerebellar hypoplasia, and a Dandy-Walker malformation together with death in early infancy and high serum creatine kinase, were considered sufficient for a WWS diagnosis. Of the liveborn children with WWS, 1 was living at age 6 months, 2 died at 3 years, and 4 died before age 9 months. </p><p><strong><em>POMT1-Related Walker-Warburg Syndrome</em></strong></p><p>
Beltran-Valero de Bernabe et al. (2002) provided follow-up of 1 of the families reported by Cormand et al. (2001), who was found to have a homozygous mutation in the POMT1 gene (G76R; 607423.0001). The parents were first cousins of Turkish origin. After 3 spontaneous abortions, a male was born with severe hydrocephalus with dilatation of the third and fourth ventricles and minimal cortical development, no visible gyri, bifid cerebellum, and hypoplasia of the vermis and of the cerebellar hemispheres. He also had a cerebellar cyst. Microphthalmia on the left and exophthalmia on the right were noted. The genitalia were hypoplastic. Serum creatine kinase levels were highly elevated at more than 2,000 U/l. The patient died at age 7 months. Another affected child, whose DNA was used for genetic analysis, died 15 minutes after birth. She presented with severe hydrocephaly, encephalocele, and bilateral cleft lip. </p><p>Beltran-Valero de Bernabe et al. (2002) also identified a homozygous truncating POMT1 mutation (G76R; 607423.0001) in affected individuals from 2 consanguineous Turkish families previously reported by Cormand et al. (2001). In 1 family, 3 sibs had WWS: a girl who died at age 3 years, and 2 fetuses. The deceased girl had cobblestone lissencephaly, microphthalmia, buphthalmos, megalocornea, glaucoma, and retinal dysplasia. One fetus had an encephalocele. In the second family, there was 1 affected girl who died at age 2 months. She presented with severe hydrocephalic ventricular dilatation, hypoplasia of the cerebellar vermis, cyst formation in the posterior fossa, and a Dandy-Walker-like malformation. Eye malformations included bilateral buphthalmos, bilateral glaucoma, and hypertelorism. Serum creatine kinase levels were significantly increased in all affected patients. Additional patients with POMT1-related WWS had similar features, including hydrocephalus, frontal bossing, ventriculomegaly, cobblestone lissencephaly with agyria and agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, encephalocele, and pachygyria/agyria. Ocular findings included microphthalmia, buphthalmos, retinal dysplasia, and lens opacities. One child had microtia. Serum creatine kinase levels were always significantly increased. </p><p>Kim et al. (2004) reported a Japanese boy with Walker-Warburg syndrome. Prenatal studies showed a meningoencephalocele. At birth, he showed hypotonia, hydrocephalus, mild microphthalmia, and corneal clouding. Serum creatine kinase levels were markedly elevated. He had markedly delayed milestones, with inability to control his head, roll over, or sit. Brain MRI showed agyric frontal and temporooccipital lobes mixed with pachygyric parietal cortex, as well as hypoplasia of the brainstem and cerebellum. Muscle biopsy showed marked increase in fatty tissue with evidence of necrosis and regeneration, hypoglycosylation of alpha-dystroglycan, and defective laminin binding. Kim et al. (2004) noted that the patient showed exceptionally long survival for WWS, up to 3.5 years, and thus could be considered to have an intermediate phenotype between WWS and muscle-eye-brain disease (MDDGB1; 613155), but the presence of a meningoencephalocele was more consistent with WWS. Genetic analysis identified a homozygous deletion in the POMT1 gene (1260delCCT; 607423.0004). </p><p><strong><em>POMT1-Related Muscle-Eye-Brain Disease</em></strong></p><p>
Godfrey et al. (2007) reported a patient with POMT1-related MEB. Although clinical details were limited, the patient had prenatal onset, increased serum creatine kinase, contractures, congenital glaucoma, microcephaly, and low IQ. Brain MRI showed hydrocephalus, brainstem involvement, white matter abnormalities, cerebellar hypoplasia, and cerebellar cysts. As part of a larger study involving 92 probands with muscular dystrophy and evidence of a dystroglycanopathy, Godfrey et al. (2007) defined MEB as congenital muscular dystrophy with brain abnormalities less severe than those seen in WWS. MRI findings in MEB included pachygyria with preferential frontoparietal involvement, polymicrogyria, cerebellar hypoplasia, cerebellar dysplasia, and frequent flattening of the pons and brainstem. Eye abnormalities, such as congenital glaucoma, progressive myopia, retinal atrophy, and juvenile cataracts, were often seen. Rarely, individuals acquired the ability to walk, although this was delayed, and some rare patients learned a few spoken words. The authors noted phenotypic overlap between MEB and Fukuyama congenital muscular dystrophy (FCMD, MDGDB4; 253800). </p><p>Mercuri et al. (2009) reported 2 Italian patients with POMT1-related MEB. Although clinical details were limited, the patients had microcephaly, mental retardation, and increased serum creatine kinase, and achieved only sitting. One patient also had myopia and seizures. Mercuri et al. (2009) defined the brain findings of MEB as including pachygyria with preferential frontoparietal involvement, polymicrogyria, cerebellar hypoplasia or dysplasia, and flattening of the pons and brainstem, associated with eye abnormalities. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Crowe et al. (1985) made the diagnosis of Warburg syndrome on the basis of physical features and autopsy findings: congenital hydrocephalus, bilateral microphthalmos, severe developmental retardation, and multiple brain malformations. Dobyns et al. (1989) reviewed the diagnostic criteria for Walker-Warburg syndrome based on 21 of their own patients and an additional 42 patients from the literature. All patients who were examined for type II lissencephaly, cerebellar malformation, retinal malformation, and congenital muscular dystrophy displayed these abnormalities. Two other abnormalities, dilatation of the cerebral ventricles with or without hydrocephalus and malformation of the anterior chamber of the eye, were helpful but not necessary diagnostic criteria. </p><p>Greenberg et al. (1992) reported that Walker-Warburg syndrome can give a false-positive test for Duchenne muscular dystrophy (DMD; 310200)/Becker muscular dystrophy (BMD; 300376) on administration of the neonatal test of dried filter paper blood spots to check for creatine kinase. This experience emphasized the importance of the myopathy finding in this syndrome. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
By means of ultrasonography, Crowe et al. (1985) prenatally diagnosed WWS in a subsequent pregnancy. Farrell et al. (1987) made the prenatal ultrasonographic diagnosis of this syndrome in a family not known to be at risk of having an affected child: ultrasonography at 28 weeks suggested fetal hydrocephalus; at 30 weeks, marked dilatation of both lateral ventricles and a small encephalocele were demonstrated as well as abnormality of the posterior fossa; at 35 weeks, retinal abnormalities were demonstrated. Prenatal ultrasonographic findings of hydrocephalus and occipital encephalocele were present in a second affected fetus at 18 weeks of gestation. </p><p>Rodgers et al. (1994) reported 3 affected sibs whose parents were second cousins once removed. Prenatal diagnosis was made in the 2 latter born sibs. In the first sib, clinical and imaging studies demonstrated hydrocephalus, microphthalmia of the left eye, corneal opacity of the right eye, Dandy-Walker malformation, severe hypoplasia or absence of the cerebellar vermis, and severe hypotonia. The second affected fetus was diagnosed at 20 weeks of gestation by the finding of hydrocephalus. In the third affected fetus, hydrocephalus, cerebellar cyst, and a small occipital meningocele were detected by ultrasonography at 19 weeks of gestation. Type II lissencephaly was demonstrated at autopsy. </p><p>By prenatal ultrasonography, Chitayat et al. (1995) detected hydrocephalus and retinal nonattachment consistent with Walker-Warburg syndrome at 37 weeks' gestation. Chitayat et al. (1995) provided a tabulation of conditions associated with congenital nonattachment/detachment of the retina. </p><p>Gasser et al. (1998) made the prenatal diagnosis of Walker-Warburg syndrome in 3 sibs. In each of 3 successive pregnancies, the fetus was found to have hydrocephalus by ultrasound. Autopsy of the second infant, a male, showed dilated ventricles, thin cortex, and type II lissencephaly with microscopic evidence of chaotic architecture. Eye examination showed retinal dysplasia. There was no demonstrable muscle change. A third fetus, a female, was found to have hydrocephalus at 13 weeks of gestation. Termination of pregnancy was performed at 20 weeks, and autopsy showed brain, eye, and muscular findings similar to those of the previous case. In addition, cystic changes and stenosis of the pyeloureteral junction were found in the right kidney. Although muscular dystrophy is an additional abnormality in postnatal cases, a lack of demonstrable muscle changes in the fetal period must be emphasized. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The first familial occurrence of WWS was that reported by Chemke et al. (1975); 3 of 7 offspring of third-cousin parents were affected, indicating autosomal recessive inheritance. </p><p>Warburg (1976) found reports of 15 cases of the association between hydrocephalus and congenital retinal detachment, and she (Warburg, 1978) observed this association in the son of first-cousin parents. Warburg (1976, 1978) thus proposed autosomal recessive inheritance. </p><p>Pagon et al. (1978) reported an affected brother and sister with WWS, and Ayme and Mattei (1983) reported 2 affected sibs. </p><p>By studying 17 patients, Dobyns et al. (1986) found parental consanguinity in 1 instance as well as 6 affected sibs among the 19 total sibs of the probands. The authors concluded that their findings supported recessive inheritance of WWS.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By genomewide linkage analysis of 15 consanguineous WWS families. Beltran-Valero de Bernabe et al. (2002) found that 5 showed homozygosity for markers, such as D9S64, at the POMT1 locus on chromosome 9q34. Further studies on the remaining 10 families indicated the existence of at least 3 different WWS loci, indicating genetic heterogeneity. </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
Currier et al. (2005) excluded mutations in the POMT1 gene as the cause of WWS in 28 of 30 unrelated patients of various ethnic and geographic origins. Linkage to the POMT1 locus was excluded in 6 consanguineous families, indicating genetic heterogeneity. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Gelot et al. (1995) reported detailed neuropathologic studies of 5 unrelated cases of cobblestone lissencephaly (type II) from 3 fetuses and 2 infants in an effort to determine the developmental course of the cerebral lesions. The authors believed that all the features could be related to a primitive meningeal pathology, a type of neurocristopathy. They found evidence for 2 distinct developmental events: first, an early disturbance in cortex formation resulting from a disorder of radial migration and from disruption of the pial barrier; and second, a later perturbation of the organization of the cerebral surface. Muscle pathology was not examined in any of these 5 cases and the eyes were examined in only 1, in which there was evidence of microphthalmia and abnormalities in the anterior chamber. </p><p>Voit et al. (1995) demonstrated preserved merosin M chain (see LAMA2, 156225) expression in skeletal muscle specimens from 5 patients with Walker-Warburg syndrome. This preservation distinguished Walker-Warburg syndrome from congenital muscular dystrophy with central hypomyelination (MDC1A; 607855) in which merosin is completely absent. In 2 unrelated children with WWS, Wewer et al. (1995) found decreased expression of laminin-2 in skeletal muscle membranes, with normal expression in smooth muscle and peripheral nerve. They also found severely reduced alpha-sarcoglycan (SGCA; 600119) immunoreactivity. Both deficiencies were believed to be secondary. </p><p>In a review, Muntoni and Voit (2004) noted that dystroglycan is an important structural protein that links cells to the extracellular matrix, and is an essential component of the basement membrane. Hypoglycosylation of alpha-dystroglycan results in the disruption of the dystrophin (DMD; 300377)-glycoprotein complex in skeletal muscle and can perturb glial and neuronal interactions, resulting in abnormal migration of neurons in the brain. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By candidate gene analysis in combination with homozygosity mapping in 15 consanguineous families with WWS, Beltran-Valero de Bernabe et al. (2002) identified homozygous or compound heterozygous mutations in the POMT1 gene in 6 of 30 probands (see, e.g., 607423.0001-607423.0003). Three of the families had been reported by Cormand et al. (2001). Immunohistochemical analysis of muscle from patients with POMT1 mutations corroborated the O-mannosylation defect, as judged by the absence of glycosylation of DAG1. The findings suggested that mutations in the POMT1 gene account for approximately 20% of cases of WWS. </p><p>In a Japanese boy with Walker-Warburg syndrome, Kim et al. (2004) identified a homozygous 3-bp deletion in the POMT1 gene (607423.0004). </p><p>Currier et al. (2005) identified heterozygous POMT1 mutations in 2 of 30 unrelated patients with WWS, but a second POMT1 mutation was not identified in either patient. The authors concluded that mutations in the POMT1 gene are an uncommon cause of WWS, identified in only 7% of their patient sample. </p><p>In a large study of 92 probands with muscular dystrophy and evidence of a dystroglycanopathy, Godfrey et al. (2007) found that 1 patient with an MEB-like phenotype had a homozygous 2-bp deletion in the POMT1 gene (2179delTC; 607423.0015). </p><p>In a large study of 81 Italian patients with a dystroglycanopathy, Mercuri et al. (2009) found that 2 with MEB had mutations in the POMT1 gene (607423.0016-607423.0018). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Williams et al. (1984) reported an affected brother and sister who died on postnatal day 53 and in the third month. Histologic studies showed a myopathy, and brain findings suggested a sclerosing meningoencephalitis active through the second and third trimesters. Indeed, the authors favored a nongenetic cause, i.e., 'an acquired agent...transmitted transplacentally through consecutive pregnancies.' </p><p>Karadeniz et al. (2002) reported an infant who had clinical signs of Walker-Warburg syndrome, including congenital muscular dystrophy, lissencephaly, ventricular dilatation and hydrocephalus, hypoplasia of cerebellar vermis, bilateral megalocornea and optic atrophy with buphthalmos, and corneal clouding. An apparently balanced de novo reciprocal translocation, t(5;6)(q35;q21), was detected. However, because Walker-Warburg syndrome is a recessive condition, it would be necessary to have a separate mutation on the other allele if the gene for this disorder is located at 1 of the 2 breakpoints. The authors pointed out that laminin chain alpha-4 (LAMA4; 600133) is located on 6q21. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Dobyns et al. (1985); Donnai and Farndon (1986); Whitley et al.
(1981); Winter and Garner (1981)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Ayme, S., Mattei, J.-F.
<strong>HARD (plus or minus) E syndrome: report of a sixth family with support for autosomal-recessive inheritance.</strong>
Am. J. Med. Genet. 14: 759-766, 1983.
[PubMed: 6405616]
[Full Text: https://doi.org/10.1002/ajmg.1320140417]
</p>
</li>
<li>
<p class="mim-text-font">
Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G.
<strong>Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.</strong>
Am. J. Hum. Genet. 71: 1033-1043, 2002.
[PubMed: 12369018]
[Full Text: https://doi.org/10.1086/342975]
</p>
</li>
<li>
<p class="mim-text-font">
Burton, B. K., Dillard, R. G., Weaver, R. G.
<strong>Walker-Warburg syndrome with cleft lip and cleft palate in two sibs.</strong>
Am. J. Med. Genet. 27: 537-541, 1987.
[PubMed: 3631127]
[Full Text: https://doi.org/10.1002/ajmg.1320270306]
</p>
</li>
<li>
<p class="mim-text-font">
Chemke, J., Czernobilsky, B., Mundel, G., Barishak, Y. R.
<strong>A familial syndrome of central nervous system and ocular malformations.</strong>
Clin. Genet. 7: 1-7, 1975.
[PubMed: 803883]
[Full Text: https://doi.org/10.1111/j.1399-0004.1975.tb00356.x]
</p>
</li>
<li>
<p class="mim-text-font">
Chitayat, D., Toi, A., Babul, R., Levin, A., Michaud, J., Summers, A., Rutka, J., Blaser, S., Becker, L. E.
<strong>Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome.</strong>
Am. J. Med. Genet. 56: 351-358, 1995.
[PubMed: 7604843]
[Full Text: https://doi.org/10.1002/ajmg.1320560403]
</p>
</li>
<li>
<p class="mim-text-font">
Cormand, B., Pihko, H., Bayes, M., Valanne, L., Santavuori, P., Talim, B., Gershoni-Baruch, R., Ahmad, A., van Bokhoven, H., Brunner, H. G., Voit, T., Topaloglu, H., Dobyns, W. B., Lehesjoki, A.-E.
<strong>Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.</strong>
Neurology 56: 1059-1069, 2001.
[PubMed: 11320179]
[Full Text: https://doi.org/10.1212/wnl.56.8.1059]
</p>
</li>
<li>
<p class="mim-text-font">
Crowe, C., Jassani, M., Dickerman, L.
<strong>The prenatal diagnosis of Warburg syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 37: A214, 1985.
</p>
</li>
<li>
<p class="mim-text-font">
Currier, S. C., Lee, C. K., Chang, B. S., Bodell, A. L., Pai, G. S., Job, L., Lagae, L. G., Al-Gazali, L. I., Eyaid, W. M., Enns, G., Dobyns, W. B., Walsh, C. A.
<strong>Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.</strong>
Am. J. Med. Genet. 133A: 53-57, 2005.
[PubMed: 15637732]
[Full Text: https://doi.org/10.1002/ajmg.a.30487]
</p>
</li>
<li>
<p class="mim-text-font">
Dobyns, W. B., Kirkpatrick, J. B., Hittner, H. M., Roberts, R. M., Kretzer, F. C.
<strong>Syndromes with lissencephaly II.</strong>
Am. J. Med. Genet. 22: 157-195, 1985.
[PubMed: 3931474]
[Full Text: https://doi.org/10.1002/ajmg.1320220118]
</p>
</li>
<li>
<p class="mim-text-font">
Dobyns, W. B., Pagon, R. A., Armstrong, D., Curry, C. J. R., Greenberg, F., Grix, A., Holmes, L. B., Laxova, R., Michels, V. V., Robinow, M., Zimmerman, R. L.
<strong>Diagnostic criteria for Walker-Warburg syndrome.</strong>
Am. J. Med. Genet. 32: 195-210, 1989.
[PubMed: 2494887]
[Full Text: https://doi.org/10.1002/ajmg.1320320213]
</p>
</li>
<li>
<p class="mim-text-font">
Dobyns, W. B., Pagon, R. A., Armstrong, D., Curry, C. J. R., Greenburg, F., Grix, A., Laxova, R., Robinow, M., Zimmerman, R. A.
<strong>New diagnostic criteria for Walker-Warburg syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 39: A59, 1986.
</p>
</li>
<li>
<p class="mim-text-font">
Donnai, D., Farndon, P. A.
<strong>Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome).</strong>
J. Med. Genet. 23: 200-203, 1986.
[PubMed: 3088278]
[Full Text: https://doi.org/10.1136/jmg.23.3.200]
</p>
</li>
<li>
<p class="mim-text-font">
Farrell, S. A., Toi, A., Leadman, M. L., Davidson, R. G., Caco, C.
<strong>Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome.</strong>
Am. J. Med. Genet. 28: 619-624, 1987.
[PubMed: 3122570]
[Full Text: https://doi.org/10.1002/ajmg.1320280309]
</p>
</li>
<li>
<p class="mim-text-font">
Gasser, B., Lindner, V., Dreyfus, M., Feidt, X., Leissner, P., Treisser, A., Stoll, C.
<strong>Prenatal diagnosis of Walker-Warburg syndrome in three sibs.</strong>
Am. J. Med. Genet. 76: 107-110, 1998.
[PubMed: 9511971]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19980305)76:2&lt;107::aid-ajmg1&gt;3.3.co;2-b]
</p>
</li>
<li>
<p class="mim-text-font">
Gelot, A., Billette de Villemeur, T., Bordarier, C., Ruchoux, M. M., Moraine, C., Ponsot, G.
<strong>Developmental aspects of type II lissencephaly: comparative study of dysplastic lesions in fetal and post-natal brains.</strong>
Acta Neuropath. 89: 72-84, 1995.
[PubMed: 7709734]
[Full Text: https://doi.org/10.1007/BF00294262]
</p>
</li>
<li>
<p class="mim-text-font">
Gershoni-Baruch, R., Mandel, H., Miller, B., Sujov, P., Braun, J.
<strong>Walker-Warburg syndrome with microtia and absent auditory canals.</strong>
Am. J. Med. Genet. 37: 87-91, 1990.
[PubMed: 2240049]
[Full Text: https://doi.org/10.1002/ajmg.1320370120]
</p>
</li>
<li>
<p class="mim-text-font">
Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., and 10 others.
<strong>Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.</strong>
Brain 130: 2725-2735, 2007.
[PubMed: 17878207]
[Full Text: https://doi.org/10.1093/brain/awm212]
</p>
</li>
<li>
<p class="mim-text-font">
Greenberg, C. R., Jacobs, H. K., Nylen, T. E., Gibb, M., Chodirker, B. N., Moffatt, M., Lacson, A., Halliday, W., Bernier, F., El-Husseini, A., Cameron, A., Wrogemann, K.
<strong>Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba neonatal screening programme for Duchenne muscular dystrophy.</strong>
J. Med. Genet. 29: 583-585, 1992.
[PubMed: 1518026]
[Full Text: https://doi.org/10.1136/jmg.29.8.583]
</p>
</li>
<li>
<p class="mim-text-font">
Heggie, P., Grossniklaus, H. E., Roessmann, U., Chou, S. M., Cruse, R. P.
<strong>Cerebro-ocular dysplasia-muscular dystrophy syndrome: report of two cases.</strong>
Arch. Ophthal. 105: 520-524, 1987.
[PubMed: 3105522]
[Full Text: https://doi.org/10.1001/archopht.1987.01060040090040]
</p>
</li>
<li>
<p class="mim-text-font">
Karadeniz, N., Zenciroglu, A., Yavuz Gurer, Y. K., Senbil, N., Karadeniz, Y., Topalolu, H.
<strong>De novo translocation t(5;6)(q35;q21) in an infant with Walker-Warburg syndrome. (Letter)</strong>
Am. J. Med. Genet. 109: 67-69, 2002.
[PubMed: 11932995]
[Full Text: https://doi.org/10.1002/ajmg.10286]
</p>
</li>
<li>
<p class="mim-text-font">
Kim, D.-S., Hayashi, Y. K., Matsumoto, H., Ogawa, M., Noguchi, S., Murakami, N., Sakuta, R., Mochizuki, M., Michele, D. E., Campbell, K. P., Nonaka, I., Nishino, I.
<strong>POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.</strong>
Neurology 62: 1009-1011, 2004.
[PubMed: 15037715]
[Full Text: https://doi.org/10.1212/01.wnl.0000115386.28769.65]
</p>
</li>
<li>
<p class="mim-text-font">
Korinthenberg, R., Palm, D., Schlake, W., Klein, J.
<strong>Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families.</strong>
Europ. J. Pediat. 142: 64-68, 1984.
[PubMed: 6714263]
[Full Text: https://doi.org/10.1007/BF00442595]
</p>
</li>
<li>
<p class="mim-text-font">
Krause, A. C.
<strong>Congenital encephalo-ophthalmic dysplasia.</strong>
Arch. Ophthal. 36: 387-444, 1946.
[PubMed: 21002031]
[Full Text: https://doi.org/10.1001/archopht.1946.00890210395001]
</p>
</li>
<li>
<p class="mim-text-font">
Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D.
<strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong>
Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.
[PubMed: 19299310]
[Full Text: https://doi.org/10.1212/01.wnl.0000346518.68110.60]
</p>
</li>
<li>
<p class="mim-text-font">
Muntoni, F., Torelli, S., Brockington, M.
<strong>Muscular dystrophies due to glycosylation defects.</strong>
Neurotherapeutics 5: 627-632, 2008.
[PubMed: 19019316]
[Full Text: https://doi.org/10.1016/j.nurt.2008.08.005]
</p>
</li>
<li>
<p class="mim-text-font">
Muntoni, F., Voit, T.
<strong>The congenital muscular dystrophies in 2004: a century of exciting progress.</strong>
Neuromusc. Disord. 14: 635-649, 2004.
[PubMed: 15351421]
[Full Text: https://doi.org/10.1016/j.nmd.2004.06.009]
</p>
</li>
<li>
<p class="mim-text-font">
Pagon, R. A., Chandler, J. W., Collie, W. R., Clarren, S. K., Moon, J., Minkin, S. A., Hall, J. G.
<strong>Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD E) syndrome: an autosomal recessive condition.</strong>
Birth Defects Orig. Art. Ser. XIV(6B): 233-241, 1978.
</p>
</li>
<li>
<p class="mim-text-font">
Rodgers, B. L., Vanner, L. V., Pai, G. S., Sens, M. A.
<strong>Walker-Warburg syndrome: report of three affected sibs.</strong>
Am. J. Med. Genet. 49: 198-201, 1994.
[PubMed: 8116667]
[Full Text: https://doi.org/10.1002/ajmg.1320490207]
</p>
</li>
<li>
<p class="mim-text-font">
Towfighi, J., Sassani, J. W., Suzuki, K., Ladda, R. L.
<strong>Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.</strong>
Acta Neuropath. 65: 110-123, 1984.
[PubMed: 6441438]
[Full Text: https://doi.org/10.1007/BF00690464]
</p>
</li>
<li>
<p class="mim-text-font">
Voit, T., Sewry, C. A., Meyer, K., Hermann, R., Straub, V., Muntoni, F., Kahn, T., Unsold, R., Helliwell, T. R., Appleton, R., Lenard, H. G.
<strong>Preserved merosin M-chain (or laminin-alpha(2)) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.</strong>
Neuropediatrics 26: 148-155, 1995.
[PubMed: 7477753]
[Full Text: https://doi.org/10.1055/s-2007-979745]
</p>
</li>
<li>
<p class="mim-text-font">
Walker, A. E.
<strong>Lissencephaly.</strong>
Arch. Neurol. Psychiat. 48: 13-29, 1942.
</p>
</li>
<li>
<p class="mim-text-font">
Warburg, M.
<strong>The heterogeneity of microphthalmia in the mentally retarded.</strong>
Birth Defects Orig. Art. Ser. VII(3): 136-154, 1971.
</p>
</li>
<li>
<p class="mim-text-font">
Warburg, M.
<strong>Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia: a guide to genetic counselling.</strong>
Hum. Hered. 26: 137-148, 1976.
[PubMed: 950240]
[Full Text: https://doi.org/10.1159/000152795]
</p>
</li>
<li>
<p class="mim-text-font">
Warburg, M.
<strong>Hydrocephaly, congenital retinal non-attachment and congenital falciform fold.</strong>
Am. J. Ophthal. 85: 88-94, 1978.
[PubMed: 413438]
[Full Text: https://doi.org/10.1016/s0002-9394(14)76671-1]
</p>
</li>
<li>
<p class="mim-text-font">
Wewer, U. M., Durkin, M. E., Zhang, X., Laursen, H., Nielsen, N. H., Towfighi, J., Engvall, E., Albrechtsen, R.
<strong>Laminin beta-2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebroocular dysplasia-muscular dystrophy).</strong>
Neurology 45: 2099-2101, 1995.
[PubMed: 7501167]
[Full Text: https://doi.org/10.1212/wnl.45.11.2099]
</p>
</li>
<li>
<p class="mim-text-font">
Whitley, C. B., Thompson, T. R., Mastri, A. R., Gorlin, R. J.
<strong>HARD syndrome: a lethal neurodysplasia with autosomal recessive inheritance. (Abstract)</strong>
Am. J. Hum. Genet. 33: 94A, 1981.
</p>
</li>
<li>
<p class="mim-text-font">
Whitley, C. B., Thompson, T. R., Mastri, A. R., Gorlin, R. J.
<strong>Warburg syndrome: lethal neurodysplasia with autosomal recessive inheritance.</strong>
J. Pediat. 102: 547-552, 1983.
[PubMed: 6339705]
[Full Text: https://doi.org/10.1016/s0022-3476(83)80182-6]
</p>
</li>
<li>
<p class="mim-text-font">
Williams, R. S., Swisher, C. N., Jennings, M., Ambler, M., Caviness, V. S., Jr.
<strong>Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis.</strong>
Neurology 34: 1531-1541, 1984.
[PubMed: 6504323]
[Full Text: https://doi.org/10.1212/wnl.34.12.1531]
</p>
</li>
<li>
<p class="mim-text-font">
Winter, R. M., Garner, A.
<strong>Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.</strong>
J. Med. Genet. 18: 314-317, 1981.
[PubMed: 7277429]
[Full Text: https://doi.org/10.1136/jmg.18.4.314]
</p>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Contributors:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 1/29/2013<br>Cassandra L. Kniffin - updated : 12/4/2009<br>Cassandra L. Kniffin - updated : 6/29/2009<br>Marla J. F. O&#x27;Neill - updated : 7/10/2008<br>Cassandra L. Kniffin - updated : 8/21/2007<br>Cassandra L. Kniffin - updated : 3/3/2006<br>Marla J. F. O&#x27;Neill - updated : 1/4/2006<br>Cassandra L. Kniffin - updated : 10/13/2005<br>Cassandra L. Kniffin - updated : 8/27/2004<br>Cassandra L. Kniffin - updated : 1/6/2004<br>Victor A. McKusick - updated : 12/23/2002<br>Cassandra L. Kniffin - updated : 11/27/2002<br>Victor A. McKusick - updated : 4/29/2002<br>Cassandra L. Kniffin - reorganized : 3/14/2002<br>Victor A. McKusick - updated : 3/26/1998<br>Orest Hurko - updated : 3/6/1996<br>Orest Hurko - updated : 2/5/1996<br>Orest Hurko - updated : 8/11/1995
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/3/1986
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Edit History:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 12/14/2020<br>carol : 08/19/2020<br>carol : 10/09/2019<br>carol : 10/08/2019<br>carol : 01/16/2018<br>alopez : 09/04/2015<br>ckniffin : 9/2/2015<br>carol : 10/7/2014<br>mcolton : 10/6/2014<br>carol : 10/2/2014<br>ckniffin : 7/31/2013<br>alopez : 6/28/2013<br>ckniffin : 6/25/2013<br>alopez : 6/11/2013<br>alopez : 6/10/2013<br>carol : 4/19/2013<br>ckniffin : 4/17/2013<br>carol : 1/30/2013<br>ckniffin : 1/29/2013<br>carol : 9/25/2012<br>ckniffin : 9/24/2012<br>carol : 5/16/2012<br>ckniffin : 5/15/2012<br>carol : 11/10/2010<br>ckniffin : 11/8/2010<br>ckniffin : 12/8/2009<br>ckniffin : 12/4/2009<br>wwang : 7/29/2009<br>ckniffin : 6/29/2009<br>wwang : 6/23/2009<br>wwang : 5/27/2009<br>wwang : 7/11/2008<br>terry : 7/10/2008<br>carol : 11/26/2007<br>wwang : 11/26/2007<br>wwang : 8/30/2007<br>wwang : 8/23/2007<br>ckniffin : 8/21/2007<br>wwang : 5/24/2006<br>ckniffin : 5/18/2006<br>wwang : 3/10/2006<br>ckniffin : 3/3/2006<br>wwang : 1/9/2006<br>terry : 1/4/2006<br>wwang : 10/26/2005<br>wwang : 10/24/2005<br>ckniffin : 10/13/2005<br>ckniffin : 4/13/2005<br>ckniffin : 8/27/2004<br>tkritzer : 1/13/2004<br>ckniffin : 1/6/2004<br>ckniffin : 6/10/2003<br>carol : 12/23/2002<br>terry : 12/23/2002<br>carol : 12/6/2002<br>carol : 12/6/2002<br>tkritzer : 12/6/2002<br>ckniffin : 11/27/2002<br>cwells : 5/28/2002<br>cwells : 5/16/2002<br>terry : 4/29/2002<br>carol : 3/20/2002<br>ckniffin : 3/20/2002<br>ckniffin : 3/14/2002<br>ckniffin : 3/14/2002<br>alopez : 7/12/2001<br>dholmes : 4/17/1998<br>carol : 4/6/1998<br>joanna : 3/27/1998<br>joanna : 3/26/1998<br>carol : 6/20/1997<br>terry : 4/15/1996<br>terry : 4/15/1996<br>mark : 3/6/1996<br>terry : 3/1/1996<br>terry : 2/29/1996<br>mark : 2/5/1996<br>terry : 1/30/1996<br>terry : 5/25/1995<br>carol : 2/17/1995<br>davew : 6/2/1994<br>mimadm : 2/19/1994<br>carol : 11/23/1993
</span>
</div>
</div>
</div>
<div>
<br />
</div>
</div>
</div>
</div>
</div>
<div id="mimFooter">
<div class="container ">
<div class="row">
<br />
<br />
</div>
</div>
<div class="hidden-print mim-footer">
<div class="container">
<div class="row">
<p />
</div>
<div class="row text-center small">
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
<br />
OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
</div>
</div>
</div>
<div class="visible-print-block mim-footer" style="position: relative;">
<div class="container">
<div class="row">
<p />
</div>
<div class="row text-center small">
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
<br />
OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
<br />
Printed: March 6, 2025
</div>
</div>
</div>
</div>
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
<div class="modal-dialog" role="document">
<div class="modal-content">
<div class="modal-header">
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">&times;</span></button>
<h4 class="modal-title" id="mimDonationPopupModalTitle">
OMIM Donation:
</h4>
</div>
<div class="modal-body">
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
Dear OMIM User,
</p>
</div>
</div>
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
To ensure long-term funding for the OMIM project, we have diversified
our revenue stream. We are determined to keep this website freely
accessible. Unfortunately, it is not free to produce. Expert curators
review the literature and organize it to facilitate your work. Over 90%
of the OMIM's operating expenses go to salary support for MD and PhD
science writers and biocurators. Please join your colleagues by making a
donation now and again in the future. Donations are an important
component of our efforts to ensure long-term funding to provide you the
information that you need at your fingertips.
</p>
</div>
</div>
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
Thank you in advance for your generous support, <br />
Ada Hamosh, MD, MPH <br />
Scientific Director, OMIM <br />
</p>
</div>
</div>
</div>
<div class="modal-footer">
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
</div>
</div>
</div>
</div>
</div>
</body>
</html>
Reference in a new issue View git blame Copy permalink