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||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F20301295%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F20301295%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="wEWtff1YDVUcJdRm1LzfL70lENI8ly9vNrGyS5ukdwHGDEXcE4chffwZcRqke9HP">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="wEWtff1YDVUcJdRm1LzfL70lENI8ly9vNrGyS5ukdwHGDEXcE4chffwZcRqke9HP">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="wEWtff1YDVUcJdRm1LzfL70lENI8ly9vNrGyS5ukdwHGDEXcE4chffwZcRqke9HP">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 20301295 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 20301295"/>
|
||
<input type="hidden" name="email-subject-hash" value="c6b6f300585f0a4c1ca5076014571b296588790bc95f299cf200f050f0f2606f"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="wEWtff1YDVUcJdRm1LzfL70lENI8ly9vNrGyS5ukdwHGDEXcE4chffwZcRqke9HP">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="wEWtff1YDVUcJdRm1LzfL70lENI8ly9vNrGyS5ukdwHGDEXcE4chffwZcRqke9HP">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap bibliographies-controls">
|
||
<div class="choice-group">
|
||
<ul class="bibliographies-action-add radio-group-items">
|
||
<li>
|
||
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
|
||
<label for="my-bibliography">My Bibliography</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your delegates due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore>
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to bibliography' panel"
|
||
ref="linksrc=close_bibliography_panel"
|
||
aria-controls="bibliography-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="mybib"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
|
||
data-saved-search-open-panel-enabled="false"
|
||
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your saved search
|
||
</h2>
|
||
|
||
<form id="saved-search-action-panel-form"
|
||
class="saved-search-action-panel-form action-panel-content action-form"
|
||
data-create-saved-search-url="/create-saved-search/"
|
||
data-try-search-terms-url="/try-search-term/"
|
||
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="wEWtff1YDVUcJdRm1LzfL70lENI8ly9vNrGyS5ukdwHGDEXcE4chffwZcRqke9HP">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="wEWtff1YDVUcJdRm1LzfL70lENI8ly9vNrGyS5ukdwHGDEXcE4chffwZcRqke9HP">
|
||
|
||
|
||
|
||
<input name="results-format" type="hidden" value="pubmed"/>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Send citations to citation manager' panel"
|
||
ref="linksrc=close_citation_manager_panel"
|
||
aria-controls="citation-manager-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your RSS Feed
|
||
</h2>
|
||
|
||
<form id="rss-action-panel-form"
|
||
class="rss-action-panel-form action-panel-content action-form"
|
||
data-create-rss-feed-url="/create-rss-feed-url/"
|
||
data-search-form-term-value="">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="wEWtff1YDVUcJdRm1LzfL70lENI8ly9vNrGyS5ukdwHGDEXcE4chffwZcRqke9HP">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="20301295">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
book
|
||
dialog-focus"
|
||
href="https://www.ncbi.nlm.nih.gov/books/NBK1116"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3057&itool=Abstract-def&log$=linkouticon&uid=20301295&db=pubmed"
|
||
title="See full text options at NCBI Bookshelf"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="NCBI Bookshelf"
|
||
data-ga-label="20301295"
|
||
><img class="book-icon" src="https://cdn.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene.png" alt="book cover photo"><div class="book-icon-label"><div class="book-icon-label-title">GeneReviews<sup>®</sup> [Internet]</div></div><span class="text">
|
||
|
||
NCBI Bookshelf
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/20301295/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/20301295/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="20301295" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F20301295%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="wEWtff1YDVUcJdRm1LzfL70lENI8ly9vNrGyS5ukdwHGDEXcE4chffwZcRqke9HP"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
|
||
</div><div class="content"><div class="format-container"><span class="option-label">
|
||
Format
|
||
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="sidebar-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
|
||
|
||
<div class="social-sharing">
|
||
<h3 class="title">
|
||
Share
|
||
</h3>
|
||
<ul class="social-sharing-links usa-unstyled-list">
|
||
|
||
|
||
<li>
|
||
<a href="http://twitter.com/intent/tweet?text=GeneReviews%C2%AE%20%5BInternet%5D%20https%3A//pubmed.ncbi.nlm.nih.gov/20301295/"
|
||
class="share-link share-link-twitter"
|
||
rel="noreferrer noopener"
|
||
target="Pubmed-Social-Media-Share-Popup"
|
||
title="Share article on Twitter"
|
||
data-ga-category="save_share"
|
||
data-ga-action="social"
|
||
data-ga-label="twitter"></a>
|
||
</li>
|
||
<li>
|
||
<a href="http://www.facebook.com/sharer/sharer.php?u=https%3A//pubmed.ncbi.nlm.nih.gov/20301295/"
|
||
class="share-link share-link-facebook"
|
||
rel="noreferrer noopener"
|
||
target="Pubmed-Social-Media-Share-Popup"
|
||
title="Share article on Facebook"
|
||
data-ga-category="save_share"
|
||
data-ga-action="social"
|
||
data-ga-label="fb"></a>
|
||
</li>
|
||
|
||
<li>
|
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data-pubmed-format-link="/20301295/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger"
|
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title="Open dialog with more actions to take"
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ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
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data-default-format-value="abstract"
|
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data-current-format-value="abstract" role="region"><button
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class="trigger usa-button"
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data-ga-category="display_options"
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data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
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Display options
|
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</div><div class="content"><div class="format-container"><span class="option-label">
|
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Format
|
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</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="abstract" id="abstract">
|
||
|
||
<h2 class="title">
|
||
Excerpt
|
||
|
||
</h2>
|
||
|
||
|
||
|
||
<div class="abstract-content selected"
|
||
id="eng-abstract">
|
||
|
||
|
||
|
||
|
||
|
||
<p>
|
||
|
||
<i>GeneReviews</i>, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in <i>GeneReviews</i> is written by one or more experts on the specific condition or disease and goes through a rigorous editing and <ext-link ext-link-type="uri" xlink:href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRrevprocesses/#GRrevprocesses.Peer_Review">peer review</ext-link> process before being published online.
|
||
</p>
|
||
|
||
<p>
|
||
|
||
<i>GeneReviews</i> currently comprises 912 chapters and has more than ten million users annually.
|
||
</p>
|
||
|
||
<p>
|
||
|
||
The two general formats for <i>GeneReviews</i> are: chapters focused on a single gene or phenotype (~95%) and overviews summarizing causes of common genetic conditions (e.g., genetic hearing loss, Alzheimer disease) (~5%).
|
||
</p>
|
||
|
||
<p>
|
||
|
||
To ensure continuing relevant and medically actionable content, each <i>GeneReviews</i> chapter is <ext-link ext-link-type="uri" xlink:href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRrevprocesses/#GRrevprocesses.Updates">updated</ext-link> every four to five years (or as needed) by the author(s) in a formal and comprehensive process curated by the <i>GeneReviews</i> <ext-link ext-link-type="uri" xlink:href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRpersonnel/">editors</ext-link>. Additional <ext-link ext-link-type="uri" xlink:href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRrevprocesses/#GRrevprocesses.Revisions">revisions</ext-link> may occur more frequently as needed to reflect significant changes in clinically relevant information.
|
||
</p>
|
||
|
||
<p>
|
||
|
||
Genetic counseling and testing terms used in <i>GeneReviews</i> are hyperlinked to definitions in the <i>GeneReviews</i> <ext-link ext-link-type="uri" xlink:href="https://www.ncbi.nlm.nih.gov/books/n/gene/glossary/">Glossary</ext-link>. <ext-link ext-link-type="uri" xlink:href="https://www.ncbi.nlm.nih.gov/books/n/gene/resource_mats/">Resource Materials</ext-link> include additional information on key genetics concepts used in <i>GeneReviews</i>.
|
||
</p>
|
||
|
||
<p>
|
||
|
||
<i>GeneReviews</i> are indexed in PubMed.
|
||
</p>
|
||
|
||
<p>
|
||
|
||
Note: For a variety of reasons, GeneReviews occasionally removes chapters from the active website. Click <ext-link ext-link-type="uri" xlink:href="https://www.ncbi.nlm.nih.gov/books/n/gene/archived_chapters/">here</ext-link> for a list of retired chapters.
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<p class="copyright" id="copyright">
|
||
Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.
|
||
</p>
|
||
|
||
|
||
<p class="disclaimer" id="disclaimer">
|
||
<a href="/disclaimer/" target="_blank" data-ga-category="literature_resources"
|
||
data-ga-action="disclaimer_link" data-ga-label="under_abstract">PubMed Disclaimer</a>
|
||
</p>
|
||
|
||
|
||
|
||
<div class="book-sections" id="book-sections">
|
||
<h2 class="title">
|
||
Sections
|
||
</h2>
|
||
|
||
<ul>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mdel1q21_1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
1q21.1 Recurrent Deletion
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gr_3ms/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
3-M Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mdel3q29/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
3q29 Recurrent Deletion
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dup7q11_23/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
7q11.23 Duplication Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mdel15q13_3/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
15q13.3 Recurrent Deletion
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/del16p11_2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
16p11.2 Recurrent Deletion
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mdel16p12_2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
16p12.2 Recurrent Deletion
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dup17q12/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
17q12 Recurrent Duplication
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mdel17q12/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
17q12 Recurrent Deletion Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cah/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gr_22q11deletion/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
22q11.2 Deletion Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/aars2-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>AARS2</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/actg2-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ACTG2</italic> Visceral Myopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/adamtsl4-eyes/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ADAMTSL4-</italic>Related Eye Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/adcy5-dysk/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ADCY5</italic> Dyskinesia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/adnp-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ADNP-</italic>Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ipa/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>AIP</italic> Familial Isolated Pituitary Adenomas
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/alk-nbs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ALK</italic>-Related Neuroblastic Tumor Susceptibility
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/alpk1-auto/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ALPK1-</italic>Related Autoinflammatory Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/iahsp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ALS2</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ankrd17-nds/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ANKRD17</italic>-Related Neurodevelopmental Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ankrd26/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ANKRD26</italic>-Related Thrombocytopenia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ano5-md/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ANO5</italic> Muscle Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ap4-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
AP-4-Associated Hereditary Spastic Paraplegia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fap/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>APC</italic>-Associated Polyposis Conditions
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/apob-hbl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>APOB</italic>-Related Familial Hypobetalipoproteinemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/arid1b-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ARID1B</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/arsacs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
ARSACS
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/asah1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ASAH1</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/aspm-pm/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ASPM</italic> Primary Microcephaly
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/asxl3/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ASXL3</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/atn1-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ATN1-</italic>Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rapid-odp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ATP1A3-</italic>Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cutis-laxa/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ATP6V0A2</italic>-Related Cutis Laxa
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/menkes/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ATP7A</italic>-Related Copper Transport Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pfic/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
ATP8B1 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ab-lipo-p/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Abetalipoproteinemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/acp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Aceruloplasminemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/achon1b/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Achondrogenesis Type 1B
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/achondroplasia/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Achondroplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/achm/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Achromatopsia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/npab/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Acid Sphingomyelinase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/apds/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Activated PI3K Delta Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/aip/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Acute Intermittent Porphyria
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/aprt-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Adenine Phosphoribosyltransferase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ada2-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Adenosine Deaminase 2 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ada/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Adenosine Deaminase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/refsum/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Adult Refsum Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/aic/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Aicardi Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ags/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Aicardi-Goutières Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/alagille/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Alagille Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/alexander/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Alexander Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/alkap/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Alkaptonuria
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/thctd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Allan-Herndon-Dudley Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/alpha1-a/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Alpha-1 Antitrypsin Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/a-mannosidosis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Alpha-Mannosidosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/xlmr/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/a-thal/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Alpha-Thalassemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/alport/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Alport Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/alstrom/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Alström Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/alzheimer/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Alzheimer Disease Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/als-overview/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Amyotrophic Lateral Sclerosis Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/acpp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Andersen-Tawil Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/androgen/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Androgen Insensitivity Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/angelman/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Angelman Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/apert/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Apert Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/arg1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Arginase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/args-aciduria/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Argininosuccinate Lyase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/aadc-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Aromatic L-Amino Acid Decarboxylase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/arvd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Arrhythmogenic Right Ventricular Cardiomyopathy Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/arterial-t/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Arterial Tortuosity Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mld/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Arylsulfatase A Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/as-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Asparagine Synthetase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/agu/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Aspartylglucosaminuria
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/aoa2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Ataxia with Oculomotor Apraxia Type 2
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/aved/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Ataxia with Vitamin E Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ataxia-telangiectas/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Ataxia-Telangiectasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/au-kline/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Au-Kline Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/alps/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Autoimmune Lymphoproliferative Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/peaf/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Autosomal Dominant Epilepsy with Auditory Features
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rob-ad/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Autosomal Dominant Robinow Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/adnfle/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cmt2c/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Autosomal Dominant <italic>TRPV4</italic> Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mckd1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Autosomal Dominant Tubulointerstitial Kidney Disease – <italic>MUC1</italic>
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hyper-nfj2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Autosomal Dominant Tubulointerstitial Kidney Disease – <italic>REN</italic>
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mckd2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Autosomal Dominant Tubulointerstitial Kidney Disease – <italic>UMOD</italic>
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/li-ar/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Autosomal Recessive Congenital Ichthyosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pkd-ar/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Autosomal Recessive Polycystic Kidney Disease – <italic>PKHD1</italic>
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ayme-gripp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Aymé-Gripp Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bap1-tpds/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>BAP1</italic> Tumor Predisposition Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bcl11a-id/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>BCL11A</italic>-Related Intellectual Disability
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/brca1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>BRCA1-</italic> and <italic>BRCA2</italic>-Associated Hereditary Breast and Ovarian Cancer
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/spg17/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>BSCL2</italic>-Related Neurologic Disorders / Seipinopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bachmann-bupp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Bachmann-Bupp Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bgs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Baller-Gerold Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/baraitser-winter/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Baraitser-Winter Cerebrofrontofacial Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bbs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Bardet-Biedl Syndrome Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/barth/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Barth Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bws/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Beckwith-Wiedemann Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bscl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Berardinelli-Seip Congenital Lipodystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bvd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Bestrophinopathies
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bpan/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Beta-Propeller Protein-Associated Neurodegeneration
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/b-thal/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Beta-Thalassemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bietti-cd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Bietti Crystalline Dystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bgd-biotin/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Biotin-Thiamine-Responsive Basal Ganglia Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/biotin/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Biotinidase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bhd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Birt-Hogg-Dubé Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bpes/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bloom/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Bloom Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bohring-opitz/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Bohring-Opitz Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bofs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Branchiooculofacial Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bor/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Branchiootorenal Spectrum Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/brugada/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Brugada Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/brylib/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Bryant-Li-Bhoj Neurodevelopmental Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mpgn/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
C3 Glomerulopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/als-ftd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>C9orf72</italic> Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/timothy/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CACNA1C</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cadasil/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
CADASIL
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cask-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CASK</italic> Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hrpt2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CDC73</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cdk13-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CDK13</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cdkl5-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
CDKL5 Deficiency Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cebpa-aml/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CEBPA-</italic>Associated Familial Acute Myeloid Leukemia (AML)
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/chchd10-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CHCHD10</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/chd2-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CHD2</italic>-Related Neurodevelopmental Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/chd4-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CHD4</italic> Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/charge/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CHD7</italic> Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/chd8-ndd-og/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CHD8</italic>-Related Neurodevelopmental Disorder with Overgrowth
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/chkb-md/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CHKB</italic>-Related Muscular Dystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ftd-chmp2b/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CHMP2B</italic> Frontotemporal Dementia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cc2-leuk/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CLCN2</italic>-Related Leukoencephalopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/clcn4-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CLCN4</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/clcn7/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CLCN7</italic>-Related Osteopetrosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/clpb-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
CLPB Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/oi/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>COL1A1/2</italic> Osteogenesis Imperfecta
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/col4a1-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>COL4A1</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/psach/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>COMP</italic>-Related Pseudoachondroplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hdls/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CSF1R</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ctcf-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CTCF</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/csnk2b-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CSNK2B</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ccfdn/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CTDP1</italic>-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ctnnb1-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CTNNB1</italic> Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cyld-cs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>CYLD</italic> Cutaneous Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/caffey/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Caffey Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lgmd2a/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Calpainopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/campo-dysp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Campomelic Dysplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ced/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Camurati-Engelmann Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/canavan/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Canavan Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cantu/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cantú Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rasa1-rel-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Capillary Malformation-Arteriovenous Malformation Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ca5a-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Carbonic Anhydrase VA Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cfc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cardiofaciocutaneous Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/carney/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Carney Complex
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cpt1a/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Carnitine Palmitoyltransferase 1A Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cpt2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Carnitine Palmitoyltransferase II Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/chh/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cact-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Carnitine-Acylcarnitine Translocase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cvt/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Catecholaminergic Polymorphic Ventricular Tachycardia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/celiac/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Celiac Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ctx/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cerebrotendinous Xanthomatosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/char/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Char Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cmt/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Charcot-Marie-Tooth Hereditary Neuropathy Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/chediak-higashi/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Chediak-Higashi Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cherubism/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cherubism
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cach/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cd-chst3/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Chondrodysplasia with Congenital Joint Dislocations, <italic>CHST3</italic>-Related
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cdp1-xlr/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Chondrodysplasia Punctata 1, X-Linked
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/x-dcdp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Chondrodysplasia Punctata 2, X-Linked
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/choroid/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Choroideremia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/christianson/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Christianson Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cgd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Chronic Granulomatous Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cmr/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Chylomicron Retention Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/citrin/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Citrin Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ctlm/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Citrullinemia Type I
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/eds/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Classic Ehlers-Danlos Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/galactosemia/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Classic Galactosemia and Clinical Variant Galactosemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/isovaleric-a/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Classic Isovaleric Acidemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ccd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cleidocranial Dysplasia Spectrum Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cockayne/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cockayne Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/coffin-siris/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Coffin-Siris Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cohen/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cohen Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ciss/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cold-Induced Sweating Syndrome Including Crisponi Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bethlem/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Collagen VI-Related Dystrophies
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pai-1-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Complete Plasminogen Activator Inhibitor 1 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ondine/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital Central Hypoventilation Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cca/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital Contractural Arachnodactyly
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/df-lamm/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cdh-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital Diaphragmatic Hernia Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cdg/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cda1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital Dyserythropoietic Anemia Type I
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cep/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital Erythropoietic Porphyria
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cfeom/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital Fibrosis of the Extraocular Muscles Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cip-overview/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital Insensitivity to Pain Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mirror/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital Mirror Movements
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cms/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital Myasthenic Syndromes Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nad-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital NAD Deficiency Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/csc-dys/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Congenital Stromal Corneal Dystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cdls/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cornelia de Lange Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mga3/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Costeff Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ce-dysp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cranioectodermal Dysplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cranio-md/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Craniometaphyseal Dysplasia, Autosomal Dominant
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/creatine/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Creatine Deficiency Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cf/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cystic Fibrosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ctns/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cystinosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/abs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Cytochrome P450 Oxidoreductase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/perry/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>DCTN1</italic>-Related Neurodegeneration
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dcx/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>DCX</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ddx3x-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>DDX3X</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ddx41-mds/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>DDX41</italic>-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/depdc5-epilepsy/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>DEPDC5</italic>-Related Epilepsy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dfna2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
DFNA2 Nonsyndromic Hearing Loss
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pp-blastoma/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>DICER1</italic> Tumor Predisposition
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dlg4-synap/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>DLG4</italic>-Related Synaptopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dnajc6-pd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>DNAJC6</italic> Parkinson Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dnmt1-ddsn/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>DNMT1</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/drpla/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
DRPLA
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dync1h1-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>DYNC1H1</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dyrk1a-id/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>DYRK1A</italic> Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gnal-dystonia/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
DYT-GNAL
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dystonia/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
DYT1 Early-Onset Isolated Dystonia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/danon/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Danon Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dfn-myop/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Deafness and Myopia Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ddon/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Deafness-Dystonia-Optic Neuronopathy Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dent/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Dent Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dguok-mtddepl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Deoxyguanosine Kinase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dmtn/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Diabetes Mellitus, 6q24-Related Transient Neonatal
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/diamond-b/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Diamond-Blackfan Anemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/diastrophic-d/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Diastrophic Dysplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hgc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Diffuse Gastric and Lobular Breast Cancer Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dld-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Dihydrolipoamide Dehydrogenase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dcm-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Dilated Cardiomyopathy Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gnas-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Disorders of <italic>GNAS</italic> Inactivation
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cbl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Disorders of Intracellular Cobalamin Metabolism
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/donnai/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Donnai-Barrow Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dbh/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Dopamine Beta-Hydroxylase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/duane/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Duane Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/duarte-gal/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Duarte Variant Galactosemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/miyoshi/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Dysferlinopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dkc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Dyskeratosis Congenita and Related Telomere Biology Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ebd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Dystrophic Epidermolysis Bullosa
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dbmd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Dystrophinopathies
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ebf3-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>EBF3</italic> Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/eed-og/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>EED</italic>-Related Overgrowth
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/efemp2-cutis-laxa/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>EFEMP2</italic>-Related Cutis Laxa
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cyclic-n/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ELANE</italic>-Related Neutropenia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/eln-cutis-laxa/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ELN</italic>-Related Cutis Laxa
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/emc10-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>EMC10</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/entpd1-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ENTPD1</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/epb42-spherocytosis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>EPB42</italic>-Related Hereditary Spherocytosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/epg5/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>EPG5</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/etv6-tpl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ETV6</italic> Thrombocytopenia and Predisposition to Leukemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rbs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ESCO2</italic> Spectrum Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/exoc6b-semd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>EXOC6B</italic>-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/exosc3-pc-hypo-p/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>EXOSC3</italic> Pontocerebellar Hypoplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/weaver/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>EZH2</italic>-Related Overgrowth
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/el-hattab-alkuraya/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
El-Hattab-Alkuraya Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/evc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Ellis-van Creveld Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/emanuel/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Emanuel Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/edmd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Emery-Dreifuss Muscular Dystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/eccl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Encephalocraniocutaneous Lipomatosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/msx2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Enlarged Parietal Foramina
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ebs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Epidermolysis Bullosa Simplex
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/eb-pa/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Epidermolysis Bullosa with Pyloric Atresia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gale-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Epimerase Deficiency Galactosemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ea1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Episodic Ataxia Type 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/epp-ar/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Erythropoietic Protoporphyria, Autosomal Recessive
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ee/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Ethylmalonic Encephalopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fam111a-dysp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FAM111A</italic>-Related Skeletal Dysplasias
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fars2-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
FARS2 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fbln5-cutis-laxa/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FBLN5</italic>-Related Cutis Laxa
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/marfan/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FBN1</italic>-Related Marfan Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fbxl4-mtddepl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FBXL4</italic>-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/craniosynostosis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FGFR</italic> Craniosynostosis Syndromes Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hartsfield/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FGFR1</italic>-Related Hartsfield Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hlrcc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FH</italic> Tumor Predisposition Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fkbp14-keds/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FKBP14</italic> Kyphoscoliotic Ehlers-Danlos Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/x-pvh/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
FLNA Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/flnb-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FLNB</italic> Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fragilex/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FMR1</italic> Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/folr1-cft-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FOLR1</italic>-Related Cerebral Folate Transport Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/foxg1-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FOXG1</italic> Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/foxp1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
FOXP1 Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/foxp2-sl-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FOXP2-</italic>Related Speech and Language Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mota/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FREM1</italic> Autosomal Recessive Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/xl-nystag/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>FRMD7</italic>-Related Infantile Nystagmus
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fabry/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Fabry Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fsh/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Facioscapulohumeral Muscular Dystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/factor-v-leiden/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Factor V Leiden Thrombophilia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ccm/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Familial Cerebral Cavernous Malformations
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fch/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Familial Combined Hypolipidemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Familial Dysautonomia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fhm/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Familial Hemiplegic Migraine
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hlh/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Familial Hemophagocytic Lymphohistiocytosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hyperchol/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Familial Hypercholesterolemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lpl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Familial Lipoprotein Lipase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fmf/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Familial Mediterranean Fever
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pnknd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Familial Paroxysmal Nonkinesigenic Dyskinesia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/porphyria-ct/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Familial Porphyria Cutanea Tarda
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fa/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Fanconi Anemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fahn/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Fatty Acid Hydroxylase-Associated Neurodegeneration
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/feingold/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Feingold Syndrome 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mccune-albright/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Fibrous Dysplasia / McCune-Albright Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fop/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Fibrodysplasia Ossificans Progressiva
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fhs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Floating-Harbor Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/issd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Free Sialic Acid Storage Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/friedreich/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Friedreich Ataxia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fructose1-6-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Fructose-1,6-Bisphosphatase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fryns/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Fryns Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fcmd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Fukuyama Congenital Muscular Dystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fum/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Fumarate Hydratase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/g6pc3-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
G6PC3 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gan/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GAN</italic>-Related Neurodegeneration
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fgf14-ataxia/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
GAA-<italic>FGF14</italic>-Related Ataxia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cmt2d/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GARS1</italic>-Associated Axonal Neuropathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gata1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GATA1</italic>-Related Cytopenia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/apbd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GBE1</italic> Adult Polyglucosan Body Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cmt-4a/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GDAP1</italic>-Related Hereditary Motor and Sensory Neuropathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cmtx/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GJB1</italic> Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dfnb1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GJB2</italic>-Related Autosomal Recessive Nonsyndromic Hearing Loss
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gm1-ganglio/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GLB1-</italic>Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/phs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GLI3</italic>-Related Pallister-Hall Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/glyt1-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
GLYT1 Encephalopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gm2a-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
GM2 Activator Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gm3-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
GM3 Synthase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gnai1-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GNAI1</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gnao1-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GNAO1</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gnb1-e/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GNB1</italic> Encephalopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gnb5-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GNB5</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ibm/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GNE</italic> Myopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ml2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GNPTAB</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gria2-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GRIA2</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/grin1-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GRIN1</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/grin2a-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GRIN2A</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/grin2b/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GRIN2B</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/grin2d-dee/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GRIN2D</italic>-Related Developmental and Epileptic Encephalopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ftd-grn/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GRN</italic> Frontotemporal Dementia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/drd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gabriele-devries/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Gabriele-de Vries Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gaucher/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Gaucher Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/geleophys-dysp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Geleophysic Dysplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gaci/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Generalized Arterial Calcification of Infancy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/husa/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Genetic Atypical Hemolytic-Uremic Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/deafness-overview/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Genetic Hearing Loss Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/prion/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Genetic Prion Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/srns-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Genetic Steroid-Resistant Nephrotic Syndrome Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/glut1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Glucose Transporter Type 1 Deficiency Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/glutaric-a1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Glutaric Acidemia Type 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gsd1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Glycogen Storage Disease Type I
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gsd3/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Glycogen Storage Disease Type III
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gsd4/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Glycogen Storage Disease Type IV
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gsd5/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Glycogen Storage Disease Type V
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gsd6/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Glycogen Storage Disease Type VI
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gcps/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Greig Cephalopolysyndactyly Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tay-sachs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>HEXA</italic> Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hemochromatosis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>HFE-</italic>Related Hemochromatosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/h1-4/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
HIST1H1E Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hnrnph2-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>HNRNPH2</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hnrnpu-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>HNRNPU</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hoxa1-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>HOXA1</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lns/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>HPRT1</italic> Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/costello/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>HRAS</italic>-Related Costello Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/carasil/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>HTRA1</italic> Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hyal2-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
HYAL2 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hfg/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hand-Foot-Genital Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/haplo-a20/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Haploinsufficiency of A20
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hemo-a/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hemophilia A
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hemo-b/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hemophilia B
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/vodi/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hepatic Veno-Occlusive Disease with Immunodeficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hep/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hepatoerythropoietic Porphyria
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ataxias/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Ataxia Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hcp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Coproporphyria
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hered-drta/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Distal Renal Tubular Acidosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dystonia-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Dystonia Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hfpoik-tmp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/folate-mal/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Folate Malabsorption
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hfi/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Fructose Intolerance
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hht/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Hemorrhagic Telangiectasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hyperek/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Hyperekplexia Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/accpn/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ext/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Multiple Osteochondromas
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hmerf/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Myopathy with Early Respiratory Failure
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ndi/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Nephrogenic Diabetes Insipidus
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hnpp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Neuropathy with Liability to Pressure Palsies
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/paragangliomas/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Paraganglioma-Pheochromocytoma Syndromes
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hsan2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Sensory and Autonomic Neuropathy Type II
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hsp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Spastic Paraplegia Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tfap/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hereditary Transthyretin Amyloidosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pph/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Heritable Pulmonary Arterial Hypertension Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/taa/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Heritable Thoracic Aortic Disease Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hps/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hermansky-Pudlak Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ed2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hidrotic Ectodermal Dysplasia 2
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hpe-overview/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Holoprosencephaly Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hos/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Holt-Oram Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/homocystinuria/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/huntington/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Huntington Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hd-l2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Huntington Disease-Like 2
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/huppke-brendel/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Huppke-Brendel Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hgps/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hutchinson-Gilford Progeria Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sys-h/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hyaline Fibromatosis Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hyper-pp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hyperkalemic Periodic Paralysis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hmdpc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hypermanganesemia with Dystonia 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/eds3/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hypermobile Ehlers-Danlos Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hhhs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hyper-ftc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hyperphosphatemic Familial Tumoral Calcinosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hyper-card/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hypertrophic Cardiomyopathy Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hypochondroplasia/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hypochondroplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/x-hed/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hypohidrotic Ectodermal Dysplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hpp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hypokalemic Periodic Paralysis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hypo-mcc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hypomyelination and Congenital Cataract
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hops/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Hypophosphatasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/idednik/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
IDEDNIK Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/image/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
IMAGe Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/insr-ir/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>INSR</italic>-Related Severe Insulin Resistance Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ipex/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
IPEX Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/irf2bpl-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>IRF2BPL</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/vws/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>IRF6</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/isca1-mmds/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ISCA1</italic>-Related Multiple Mitochondrial Dysfunctions Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/isca2-mt-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ISCA2</italic>-Related Mitochondrial Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ibmpfd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/i-p/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Incontinentia Pigmenti
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cmtc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Isolated and Classic Cutis Marmorata Telangiectatica Congenita
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kms/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mma/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Isolated Methylmalonic Acidemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/iso-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Isolated Sulfite Oxidase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/jln/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Jervell and Lange-Nielsen Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/joubert/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Joubert Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ebj/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Junctional Epidermolysis Bullosa
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/jh/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Juvenile Hemochromatosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/jps/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Juvenile Polyposis Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kat6b-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>KAT6B</italic> Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kbgs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
KBG Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kcnk9-is/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>KCNK9</italic> Imprinting Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bfns/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>KCNQ2</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kcnq3-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>KCNQ3</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kcnt1-epilepsy/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>KCNT1</italic>-Related Epilepsy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kmt2b-dystonia/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>KMT2B</italic>-Related Dystonia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kmt2e-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>KMT2E</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kptn-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>KPTN</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kabuki/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Kabuki Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kagami-ogata/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Kagami-Ogata Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kos/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Kaufman Oculocerebrofacial Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kindler/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Kindler Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kleefstra/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Kleefstra Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mdel17q21_31/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Koolen-de Vries Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/krabbe/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Krabbe Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/l1cam/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
L1 Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mdef-cmd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>LAMA2</italic> Muscular Dystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dcm-lmna/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>LMNA</italic>-Related Dilated Cardiomyopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lad-ad/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>LMNB1</italic>-Related Autosomal Dominant Leukodystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lpin2-majeed/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>LPIN2</italic>-Related Majeed Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lrrk2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>LRRK2</italic> Parkinson Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ltbp4-cutis-laxa/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>LTBP4</italic>-Related Cutis Laxa
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/schwann/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>LZTR1</italic>- and <italic>SMARCB1</italic>-Related Schwannomatosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mpd1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Laing Distal Myopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lathosterolosis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Lathosterolosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lca-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lhon/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Leber Hereditary Optic Neuropathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/legius/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Legius Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lbsl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/li-fraumeni/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Li-Fraumeni Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lipoid-p/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Lipoid Proteinosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/loeys-dietz/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Loeys-Dietz Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rws/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Long QT Syndrome Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lchad/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lowe/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Lowe Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lds/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Lymphedema-Distichiasis Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hnpcc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Lynch Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lpi/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Lysinuric Protein Intolerance
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lal-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Lysosomal Acid Lipase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ftdp-17/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MAPT-</italic>Related Frontotemporal Dementia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mbd5-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MBD5</italic> Haploinsufficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mbtps1-semd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MBTPS1</italic>-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rett/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MECP2</italic> Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mecp2-dup/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MECP2</italic> Duplication Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mecr-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MECR</italic>-Related Neurologic Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/fg/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MED12</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mef2c-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MEF2C</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/melas/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
MELAS
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/merrf/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
MERRF
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cmt2a/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MFN2</italic> Hereditary Motor and Sensory Neuropathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/opitz/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MID1</italic>-Related Opitz G/BBB Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mirage/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
MIRAGE Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mn1-ctt/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MN1</italic> C-Terminal Truncation Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mpph/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
MPPH Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mpv17-mtdep/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MPV17-</italic>Related Mitochondrial DNA Maintenance Defect
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/maps/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MUTYH</italic> Polyposis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/myh9/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MYH9</italic>-Related Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/myrf-cugs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>MYRF</italic>-Related Cardiac Urogenital Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mhs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Malignant Hyperthermia Susceptibility
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mf-dys-mic/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mandibulofacial Dysostosis with Microcephaly
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/msud/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Maple Syrup Urine Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mss/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Marinesco-Sjögren Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dup15q/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Maternal 15q Duplication Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mody-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Maturity-Onset Diabetes of the Young Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mkks/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
McKusick-Kaufman Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mcleod/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
McLeod Neuroacanthocytosis Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mcad/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mmihs-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mlc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Megalencephalic Leukoencephalopathy with Subcortical Cysts
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mopd2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Microcephalic Osteodysplastic Primordial Dwarfism Type II
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/miccap-ms/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Microcephaly-Capillary Malformation Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/microph-lsd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Microphthalmia with Linear Skin Defects Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/milroy/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Milroy Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/narp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mitochondrial DNA-Associated Leigh Syndrome Spectrum
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mtdna-md-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mitochondrial DNA Maintenance Defects Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mt-mpan/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mitochondrial Membrane Protein-Associated Neurodegeneration
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mngie/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mitochondrial Neurogastrointestinal Encephalopathy Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/echs1-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mc-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Molybdenum Cofactor Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/monosomy7-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Monosomy 7 Predisposition Syndromes Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mws/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mowat-Wilson Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ml3c/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mucolipidosis III Gamma
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ml4/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mucolipidosis IV
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mps1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mucopolysaccharidosis Type I
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hunter/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mucopolysaccharidosis Type II
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mps3/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mucopolysaccharidosis Type III
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mps4a/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mucopolysaccharidosis Type IVA
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mps7/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Mucopolysaccharidosis Type VII
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/muenke/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Muenke Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mona/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Multicentric Osteolysis Nodulosis and Arthropathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/madd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Multiple Acyl-CoA Dehydrogenase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/men1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Multiple Endocrine Neoplasia Type 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/men2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Multiple Endocrine Neoplasia Type 2
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/men4/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Multiple Endocrine Neoplasia Type 4
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/edm-ad/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Multiple Epiphyseal Dysplasia, Autosomal Dominant
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/m-sulfatase-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Multiple Sulfatase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/myhre/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Myhre Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/myotonia-c/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Myotonia Congenita
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/myotonic-d/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Myotonic Dystrophy Type 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/myotonic-d2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Myotonic Dystrophy Type 2
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nars1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NARS1</italic>-Related Neurologic Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/norrie/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NDP-</italic>Related Retinopathies
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nf2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NF2</italic>-Related Schwannomatosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nfia-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NFIA</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nfix-malan/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NFIX</italic>-Related Malan Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ngly1-cddg/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NGLY1</italic>-Related Congenital Disorder of Deglycosylation
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nkx2-1-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NKX2-1</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nkx6-2-spax/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NKX6-2</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lms/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NOTCH3</italic>-Related Lateral Meningocele Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ahc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NR0B1-</italic>Related Adrenal Hypoplasia Congenita
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nr2f1-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NR2F1</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nsdhl-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NSDHL</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nthl1-ts/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NTHL1</italic> Tumor Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hsan4/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>NTRK1</italic> Congenital Insensitivity to Pain with Anhidrosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nail-ps/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nail-Patella Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nephron-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nephronophthisis-Related Ciliopathies
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nbia-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Neurodegeneration with Brain Iron Accumulation Disorders Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/neuroferritin/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Neuroferritinopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nf1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Neurofibromatosis 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bcns/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nevoid Basal Cell Carcinoma Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nbs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nicolaides-Baraitser Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/npc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Niemann-Pick Disease Type C
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nijmegen/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nijmegen Breakage Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/nkh/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nonketotic Hyperglycinemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/xxms/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gonad-dys-46xy/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nonsyndromic Disorders of Testicular Development Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hi/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nonsyndromic Genetic Hyperinsulinism Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mt-deafness/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nonsyndromic Hearing Loss and Deafness, Mitochondrial
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rp-overview/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nonsyndromic Retinitis Pigmentosa Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tooth-agenesis-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nonsyndromic Tooth Agenesis Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/noonan/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Noonan Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/leopard/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Noonan Syndrome with Multiple Lentigines
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/leigh-nucl-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dfnb9/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>OTOF</italic>-Related Deafness
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/oca-oa-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Oculocutaneous Albinism and Ocular Albinism Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/oca4/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Oculocutaneous Albinism Type 4
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/opmd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Oculopharyngeal Muscular Dystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/okur-chung/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Okur-Chung Neurodevelopmental Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ofd1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Oral-Facial-Digital Syndrome Type I
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/otc-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Ornithine Transcarbamylase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/og-dysp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Osteoglophonic Dysplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/os-cs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Osteopathia Striata with Cranial Sclerosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pacs1-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PACS1</italic> Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/chrom17-lis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PAFAH1B1</italic>-Related Lissencephaly / Subcortical Band Heterotopia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/papr/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PAX2</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/aniridia/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PAX6</italic>-Related Aniridia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pi4ka/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PI4KA</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pik3ca-overgrowth/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PIK3CA</italic>-Related Overgrowth Spectrum
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pink1-pd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PINK1</italic> Type of Young-Onset Parkinson Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/inad/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PLA2G6</italic>-Associated Neurodegeneration
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/eds6/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PLOD1</italic>-Related Kyphoscoliotic Ehlers-Danlos Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pmd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PLP1</italic> Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/plpbp-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
PLPBP Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cdg-1a/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
PMM2-CDG
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pnpla6-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PNPLA6</italic> Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pnpo-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
PNPO Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/alpers/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>POLG</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pol3-leuk/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
POLR3-Related Leukodystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/focal-dh/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PORCN</italic>-Related Developmental Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pot1-tpd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>POT1</italic> Tumor Predisposition
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ppp1r12a-ubm/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PPP1R12A</italic>-Related Urogenital and/or Brain Malformation Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ppp2r1a-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PPP2R1A</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ppp2r5d-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PPP2R5D</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/me-ataxia/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PRICKLE1</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/prop1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PROP1</italic>-Related Combined Pituitary Hormone Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/prrt2-parox/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PRRT2</italic>-Related Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/prss1-hp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PRSS1</italic>-Related Hereditary Pancreatitis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/phts/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PTEN</italic> Hamartoma Tumor Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pura-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>PURA</italic>-Related Neurodevelopmental Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pachyonychia Congenita
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pancreatitis-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pancreatitis Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pkan/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pantothenate Kinase-Associated Neurodegeneration
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/jpd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Parkin Type of Early-Onset Parkinson Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/parkinson-overview/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Parkinson Disease Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/chol-liver-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pediatric Genetic Cholestatic Liver Disease Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pmld1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pelizaeus-Merzbacher-Like Disease 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/eds-pd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Periodontal Ehlers-Danlos Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/dmn/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Permanent Neonatal Diabetes Mellitus
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/perrault/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Perrault Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/peters-plus/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Peters Plus Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pjs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Peutz-Jeghers Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gr_22q13_3/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Phelan-McDermid Syndrome-<italic>SHANK3</italic> Related
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pku/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Phenylalanine Hydroxylase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/prs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Phosphoribosylpyrophosphate Synthetase Superactivity
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/arts/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Phosphoribosylpyrophosphate Synthetase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gsd9/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Phosphorylase Kinase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pitt-hopkins/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pitt-Hopkins Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/poikiloderma-n/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Poikiloderma with Neutropenia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pkd-ad/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Polycystic Kidney Disease, Autosomal Dominant
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/plosl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gsd2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pompe Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/potocki-lupski/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Potocki-Lupski Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pws/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Prader-Willi Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cdsp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primary Carnitine Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pcd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primary Ciliary Dyskinesia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/glc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primary Congenital Glaucoma
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/coq10-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primary Coenzyme Q<sub>10</sub> Deficiency Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/bgc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primary Familial Brain Calcification
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pfcp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primary Familial and Congenital Erythrocytosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ph1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primary Hyperoxaluria Type 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ph2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primary Hyperoxaluria Type 2
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ph3/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primary Hyperoxaluria Type 3
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mt-overview/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primary Mitochondrial Disorders Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pdhc-def-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primary Pyruvate Dehydrogenase Complex Deficiency Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/trimethylaminuria/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primary Trimethylaminuria
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/primrose/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Primrose Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/epm1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Progressive Myoclonic Epilepsy Type 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lafora/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Progressive Myoclonus Epilepsy, Lafora Type
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ppr-dysp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Progressive Pseudorheumatoid Dysplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/prolidase-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Prolidase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/propionic-a/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Propionic Acidemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/proteus/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Proteus Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ptt/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Prothrombin Thrombophilia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pha2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pseudohypoaldosteronism Type II
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pxe/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pseudoxanthoma Elasticum
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pf/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pulmonary Fibrosis Predisposition Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pycnodys/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pycnodysostosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pds/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pyridoxine-Dependent Epilepsy – <italic>ALDH7A1</italic>
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pdc/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Pyruvate Carboxylase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rab18-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
RAB18 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rere-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>RERE</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rfc1-canvas/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>RFC1</italic> CANVAS / Spectrum Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rnu4atac-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
RNU4atac-opathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rob/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ROR2</italic>-Related Robinow Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rpe65-lca/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>RPE65</italic>-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cls/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>RPS6KA3</italic>-Related Intellectual Disability
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rrm2b-mtddepl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>RRM2B</italic> Mitochondrial DNA Maintenance Defects
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/runx1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>RUNX1</italic> Familial Platelet Disorder with Associated Myeloid Malignancies
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rvcl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/retinoblastoma/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Retinoblastoma
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rtps/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Rhabdoid Tumor Predisposition Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rcdp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Rhizomelic Chondrodysplasia Punctata Type 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/riboflavin-tn/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Riboflavin Transporter Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ritscher-schinzel/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Ritscher-Schinzel Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rts/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Rothmund-Thomson Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rotor/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Rotor Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rsts/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Rubinstein-Taybi Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tbs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SALL1</italic>-Related Townes-Brocks Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/drrs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SALL4</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/samd9l-ap/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SAMD9L</italic> Ataxia-Pancytopenia Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/satb2-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SATB2-</italic>Associated Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/amrf/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SCARB2</italic>-Related Action Myoclonus – Renal Failure Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/gefs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SCN1A</italic> Seizure Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/scn3a-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SCN3A-</italic>Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/scn8a-ee/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SCN8A</italic>-Related Epilepsy and/or Neurodevelopmental Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/etha/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SCN9A</italic> Neuropathic Pain Syndromes
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/megdel/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
SERAC1 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/setbp1-hd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SETBP1</italic> Haploinsufficiency Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/setd1b-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SETD1B</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/setd2-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SETD2</italic> Neurodevelopmental Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/myo-dystonia/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SGCE</italic> Myoclonus-Dystonia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/cmt4c/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SH3TC2</italic>-Related Hereditary Motor and Sensory Neuropathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/short/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
SHORT Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/lwd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
SHOX Deficiency Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/slc12a5-e/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SLC12A5</italic>-Related Epilepsy of Infancy with Migrating Focal Seizures
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/amish-mcph/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SLC25A19</italic>-Related Thiamine Metabolism Dysfunction
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/slc25a24-fps/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SLC25A24</italic> Fontaine Progeroid Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ao2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SLC26A2</italic>-Related Atelosteogenesis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/edm/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SLC26A2</italic>-Related Multiple Epiphyseal Dysplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pendred/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SLC26A4</italic>-Related Sensorineural Hearing Loss
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/slc39a8-cdg/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
SLC39A8-CDG
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/slc39a14-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
SLC39A14 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/slc6a1-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SLC6A1</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/slc6a3-dtds/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SLC6A3</italic>-Related Dopamine Transporter Deficiency Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sost/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SOST</italic>-Related Sclerosing Bone Dysplasias
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sox2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SOX2</italic> Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sptbn4/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SPTBN4</italic> Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/hsn1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SPTLC1</italic>-Related Hereditary Sensory Neuropathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/stac3-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>STAC3</italic> Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/higes/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>STAT3</italic> Hyper IgE Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/strc-hearing-loss/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>STRC</italic>-Related Autosomal Recessive Hearing Loss
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/stxbp1-ee/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>STXBP1</italic> Encephalopathy with Epilepsy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sucla2-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SUCLA2</italic>-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/suclg1-mtddepl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SUCLG1</italic>-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/syne1ca-ar/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
SYNE1 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/syngap1-id/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>SYNGAP1</italic>-Related Intellectual Disability
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/scs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Saethre-Chotzen Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/salih-myo/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Salih Myopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sandhoff/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Sandhoff Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/saul-wilson/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Saul-Wilson Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/schaaf-yang/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Schaaf-Yang Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/siod/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Schimke Immunoosseous Dysplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/schinzel-giedion/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Schinzel-Giedion Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/schmid-mcd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Schmid Metaphyseal Chondrodysplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/spr-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Sepiapterin Reductase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/serine-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Serine Deficiency Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/shashi-pena/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Shashi-Pena Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/scad/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Short-Chain Acyl-CoA Dehydrogenase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sgs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Shprintzen-Goldberg Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sds/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Shwachman-Diamond Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sickle/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Sickle Cell Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rss/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Silver-Russell Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sgbs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Simpson-Golabi-Behmel Syndrome Type 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kss/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Single Large-Scale Mitochondrial DNA Deletion Syndromes
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/stsl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Sitosterolemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/slo/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Smith-Lemli-Opitz Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sms/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Smith-Magenis Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/snyder-robinson/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Snyder-Robinson Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sotos/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Sotos Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/spg3a/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spastic Paraplegia 3A
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/spg4/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spastic Paraplegia 4
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/spg7/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spastic Paraplegia 7
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/spg8/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spastic Paraplegia 8
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/spg11/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spastic Paraplegia 11
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/spg15/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spastic Paraplegia 15
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sgpl1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Sphingosine Phosphate Lyase Insufficiency Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/kennedy/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinal and Bulbar Muscular Atrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sma/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinal Muscular Atrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sma-xli/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinal Muscular Atrophy, X-Linked Infantile
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 2
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca3/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 3
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca4/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 4
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca6/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 6
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca7/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 7
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca8/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 8
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca10/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 10
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca11/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 11
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca13/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 13
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca14/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 14
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca17/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 17
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca20/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 20
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca28/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 28
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca37/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 37
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sca38/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia Type 38
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/scan1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spinocerebellar Ataxia with Axonal Neuropathy Type 1
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/spondylocostal-d/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spondylocostal Dysostosis, Autosomal Recessive
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/smdcf/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Spondylometaphyseal Dysplasia, Corner Fracture Type
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ss-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Squalene Synthase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/stickler/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Stickler Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/stromme/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Strømme Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ssadh/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Succinic Semialdehyde Dehydrogenase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tango2-mea/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
TANGO2 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tardbp-als/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TARDBP</italic>-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tbc1d24-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TBC1D24</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tecpr2-hsan-id/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TECPR2</italic>-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/vmcm/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TEK</italic>-Related Venous Malformations
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/beck-fahrner/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TET3</italic>-Related Beck-Fahrner Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tfr2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TFR2</italic>-Related Hemochromatosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/thoc6-id/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>THOC6</italic> Intellectual Disability Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tk2-mtddepl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TK2</italic>-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/traps/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
TNF Receptor-Associated Periodic Fever Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tnxb-eds/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TNXB</italic>-Related Classical-Like Ehlers-Danlos Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/aec/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TP63</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/trio-id/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TRIO</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/trmu-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
TRMU Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/trpm3-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TRPM3</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pc-hypo-p/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TSEN54</italic> Pontocerebellar Hypoplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tubb4a-leuk/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TUBB4A</italic>-Related Leukodystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/burn-mckeown/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>TXNL4A</italic>-Related Craniofacial Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tangier/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Tangier Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tbrs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Tatton-Brown-Rahman Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/td/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Thanatophoric Dysplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/trma/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Thiamine-Responsive Megaloblastic Anemia Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tar/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Thrombocytopenia Absent Radius Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tcs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Treacher Collins Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sd-thes/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Trichohepatoenteric Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tps/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Trichorhinophalangeal Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/spg20/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Troyer Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tuberous-sclerosis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Tuberous Sclerosis Complex
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tubulin-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Tubulinopathies Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/collagen-2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Type II Collagen Disorders Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/thdrd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Tyrosine Hydroxylase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tyrosinemia/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Tyrosinemia Type I
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/tyrosinemia-2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Tyrosinemia Type II
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/unc80-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
UNC80 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/udd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Udd Distal Myopathy – Tibial Muscular Dystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ucd-overview/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Urea Cycle Disorders Overview
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/urofacial/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Urofacial Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/usher1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Usher Syndrome Type I
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/usher2/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Usher Syndrome Type II
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/vldlr-ch/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>VLDLR</italic> Cerebellar Hypoplasia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/chac/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>VPS13A</italic> Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/vps13d-md/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>VPS13D</italic> Movement Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/vps35-pd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>VPS35</italic>-Related Parkinson Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/porphyria-var/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Variegate Porphyria
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/eds4/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Vascular Ehlers-Danlos Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/vlcad/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/vhl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Von Hippel-Lindau Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/von-willebrand/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Von Willebrand Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/wac-id/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>WAC</italic>-Related Intellectual Disability
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/wars2-def/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
WARS2 Deficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/was/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>WAS</italic>-Related Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/wdr26-id/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>WDR26</italic>-Related Intellectual Disability
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/wdr62-pm/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>WDR62</italic> Primary Microcephaly
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/wfs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>WFS1</italic> Spectrum Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/wt1-dis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>WT1</italic> Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/ws1/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Waardenburg Syndrome Type I
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/warsaw/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Warsaw Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/weill-ms/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Weill-Marchesani Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/weiss-kruszka/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Weiss-Kruszka Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/werner/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Werner Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/white-sutton/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
White-Sutton Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/wiedemann-steiner/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Wiedemann-Steiner Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/williams/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Williams Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/wilms-ov/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Wilms Tumor Predisposition
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/wilson/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Wilson Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/wss/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Woodhouse-Sakati Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/x-ag/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Acrogigantism
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/x-ald/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Adrenoleukodystrophy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/xla/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Agammaglobulinemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/retinoschisis/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Congenital Retinoschisis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/csnb/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Congenital Stationary Night Blindness
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/xdp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Dystonia-Parkinsonism
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/xlhi/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Hyper IgM Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/rickets-xlh/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Hypophosphatemia
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/x-lpd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Lymphoproliferative Disease
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/mtm/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Myotubular Myopathy
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/opd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Otopalatodigital Spectrum Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/epp-xl/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Protoporphyria
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/x-scid/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Severe Combined Immunodeficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/sedt/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
X-Linked Spondyloepiphyseal Dysplasia Tarda
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/xp/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Xeroderma Pigmentosum
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/xia-gibbs/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Xia-Gibbs Syndrome
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/xq28-dup/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/yci/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Y Chromosome Infertility
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/yif1b-ndd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>YIF1B</italic>-Related Neurodevelopmental Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/zap70-scid/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>ZAP70</italic>-Related Combined Immunodeficiency
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/pbd/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Zellweger Spectrum Disorder
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/n/gene/glossary/" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GeneReviews</italic> Glossary
|
||
</a>
|
||
|
||
</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
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<span class="docsum-journal-citation full-journal-citation">2000 Oct 2 [updated 2024 Jun 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.</span>
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