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<meta name="keywords" content="C2931498, atkin flaitz patil smith syndrome, disease or syndrome, intellectual developmental disorder, x-linked 1, intellectual developmental disorder, x-linked 1, x-linked dominant, intellectual disability, x-linked 1, iqsec2, iqsec2 (iq motif and sec7 domain 2) related syndromic intellectual disability, iqsec2-related disorder, iqsec2-related epilepsy, iqsec2-related intellectual disability, iqsec2-related syndromic intellectual disability, mental retardation, x-linked 1, mental retardation, x-linked 18, mental retardation, x-linked 78, mental retardation, x-linked type 1, mental retardation, x-linked, nonspecific, mrx, mrx1, mrx18, mrx78, nonsyndromic x-linked cognitive disability, severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome, severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome, x-linked intellectual disability 1, x-linked intellectual disability 1/78, x-linked intellectual disability 78, xlid1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioural disturbances, such as self-injury and unexplained crying episodes." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=444070
|
||
ConceptID=C2931498
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, X-linked 1<span class="h1sub">(XLID1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444070</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C2931498</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Atkin Flaitz Patil Smith syndrome; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1; MENTAL RETARDATION, X-LINKED 18; MENTAL RETARDATION, X-LINKED 78; Mental retardation, X-linked, nonspecific; XLID1</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability (774149004); IQSEC2-related syndromic intellectual disability (774149004); Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (774149004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="IQSEC2 - ID: 23096 - NCBI Gene" href="/gene/23096" class="medgenPMinfo">IQSEC2</a> (Xp11.22)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010656" target="_blank">MONDO:0010656</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/309530" target="_blank">309530</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioural disturbances, such as self-injury and unexplained crying episodes. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78735"><div><strong>Atonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78735</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78735">Feature record</a> | <a href="/medgen?term=%22Atonic%20seizure%22%5BClinical%20Features%5D%20OR%2078735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341172"><div><strong>Poor speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341172</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341172">Feature record</a> | <a href="/medgen?term=%22Poor%20speech%22%5BClinical%20Features%5D%20OR%20341172%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376638"><div><strong>No social interaction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376638</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of intentional participation in interactions with another person.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376638">Feature record</a> | <a href="/medgen?term=%22No%20social%20interaction%22%5BClinical%20Features%5D%20OR%20376638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113165"><div><strong>Brachycephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113165</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113165">Feature record</a> | <a href="/medgen?term=%22Brachycephaly%22%5BClinical%20Features%5D%20OR%20113165%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_608952"><div><strong>Secondary microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>608952</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0431352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/608952">Feature record</a> | <a href="/medgen?term=%22Secondary%20microcephaly%22%5BClinical%20Features%5D%20OR%20608952%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43780"><div><strong>Hypermetropia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43780</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43780">Feature record</a> | <a href="/medgen?term=%22Hypermetropia%22%5BClinical%20Features%5D%20OR%2043780%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermetropia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachycephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_608952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">No social interaction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341172" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931498[DISCUI]&test_type=Clinical" ref="ncbi_uid=444070">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=444070" target="_blank" href="/omim/300522">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=444070" ref="ncbi_uid=444070">V</a></span></span><span class="TLline">Intellectual disability, X-linked 1</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/453059" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder">Neurodevelopmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/453059" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder">Neurodevelopmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/7544" ref="tree=MeSH" title="MedGen record for Mental Retardation">Mental Retardation</a></span><ul><li><span class="matched_ds">Intellectual disability, X-linked 1</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36373727">An update on the diagnosis and treatment of adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gujral J,
|
||
Sethuram S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2023 Feb 1;30(1):44-51.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1097/MED.0000000000000782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36373727" target="_blank">36373727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31909500">X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turk BR,
|
||
Theda C,
|
||
Fatemi A,
|
||
Moser AB</span><br />
|
||
<span class="medgenPMjournal">Int J Dev Neurosci</span>
|
||
2020 Feb;80(1):52-72.
|
||
Epub 2020 Jan 26
|
||
doi: 10.1002/jdn.10003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31909500" target="_blank">31909500</a><a href="/pmc/articles/PMC7041623" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25115486">X-linked adrenoleukodystrophy: pathogenesis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engelen M,
|
||
Kemp S,
|
||
Poll-The BT</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2014 Oct;14(10):486.
|
||
doi: 10.1007/s11910-014-0486-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25115486" target="_blank">25115486</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20x-linked%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (94)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38612920">X-Linked Epilepsies: A Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernardo P,
|
||
Cuccurullo C,
|
||
Rubino M,
|
||
De Vita G,
|
||
Terrone G,
|
||
Bilo L,
|
||
Coppola A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Apr 8;25(7)
|
||
doi: 10.3390/ijms25074110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38612920" target="_blank">38612920</a><a href="/pmc/articles/PMC11012983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38390857">Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thakkar RN,
|
||
Patel D,
|
||
Kioutchoukova IP,
|
||
Al-Bahou R,
|
||
Reddy P,
|
||
Foster DT,
|
||
Lucke-Wold B</span><br />
|
||
<span class="medgenPMjournal">Med Sci (Basel)</span>
|
||
2024 Jan 25;12(1)
|
||
doi: 10.3390/medsci12010007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38390857" target="_blank">38390857</a><a href="/pmc/articles/PMC10885080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38034003">X-linked adrenoleukodystrophy and primary adrenal insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cappa M,
|
||
Todisco T,
|
||
Bizzarri C</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1309053.
|
||
Epub 2023 Nov 16
|
||
doi: 10.3389/fendo.2023.1309053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38034003" target="_blank">38034003</a><a href="/pmc/articles/PMC10687143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
|
||
Pons R,
|
||
Ghaoui R,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):625-636.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1002/mds.27655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26350204">Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grozeva D,
|
||
Carss K,
|
||
Spasic-Boskovic O,
|
||
Tejada MI,
|
||
Gecz J,
|
||
Shaw M,
|
||
Corbett M,
|
||
Haan E,
|
||
Thompson E,
|
||
Friend K,
|
||
Hussain Z,
|
||
Hackett A,
|
||
Field M,
|
||
Renieri A,
|
||
Stevenson R,
|
||
Schwartz C,
|
||
Floyd JA,
|
||
Bentham J,
|
||
Cosgrove C,
|
||
Keavney B,
|
||
Bhattacharya S;
|
||
Italian X-linked Mental Retardation Project;
|
||
UK10K Consortium;
|
||
GOLD Consortium,
|
||
Hurles M,
|
||
Raymond FL</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2015 Dec;36(12):1197-204.
|
||
Epub 2015 Sep 30
|
||
doi: 10.1002/humu.22901.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26350204" target="_blank">26350204</a><a href="/pmc/articles/PMC4833192" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%201%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (441)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39322376">Peroxisomal leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engelen M</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;204:139-145.
|
||
doi: 10.1016/B978-0-323-99209-1.00021-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39322376" target="_blank">39322376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38034003">X-linked adrenoleukodystrophy and primary adrenal insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cappa M,
|
||
Todisco T,
|
||
Bizzarri C</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1309053.
|
||
Epub 2023 Nov 16
|
||
doi: 10.3389/fendo.2023.1309053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38034003" target="_blank">38034003</a><a href="/pmc/articles/PMC10687143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32364223">The Changing Face of Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu J,
|
||
Eichler F,
|
||
Biffi A,
|
||
Duncan CN,
|
||
Williams DA,
|
||
Majzoub JA</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2020 Aug 1;41(4):577-93.
|
||
doi: 10.1210/endrev/bnaa013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32364223" target="_blank">32364223</a><a href="/pmc/articles/PMC7286618" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
|
||
Pons R,
|
||
Ghaoui R,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):625-636.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1002/mds.27655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26350204">Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grozeva D,
|
||
Carss K,
|
||
Spasic-Boskovic O,
|
||
Tejada MI,
|
||
Gecz J,
|
||
Shaw M,
|
||
Corbett M,
|
||
Haan E,
|
||
Thompson E,
|
||
Friend K,
|
||
Hussain Z,
|
||
Hackett A,
|
||
Field M,
|
||
Renieri A,
|
||
Stevenson R,
|
||
Schwartz C,
|
||
Floyd JA,
|
||
Bentham J,
|
||
Cosgrove C,
|
||
Keavney B,
|
||
Bhattacharya S;
|
||
Italian X-linked Mental Retardation Project;
|
||
UK10K Consortium;
|
||
GOLD Consortium,
|
||
Hurles M,
|
||
Raymond FL</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2015 Dec;36(12):1197-204.
|
||
Epub 2015 Sep 30
|
||
doi: 10.1002/humu.22901.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26350204" target="_blank">26350204</a><a href="/pmc/articles/PMC4833192" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%201%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (853)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan CN,
|
||
Musolino PL,
|
||
Lund TC,
|
||
Gupta AO,
|
||
De Oliveira S,
|
||
Thrasher AJ,
|
||
Aubourg P,
|
||
Kühl JS,
|
||
Loes DJ,
|
||
Amartino H,
|
||
Smith N,
|
||
Folloni Fernandes J,
|
||
Sevin C,
|
||
Sankar R,
|
||
Hussain SA,
|
||
Gissen P,
|
||
Dalle JH,
|
||
Platzbecker U,
|
||
Downey GF,
|
||
McNeil E,
|
||
Demopoulos L,
|
||
Dietz AC,
|
||
Thakar HL,
|
||
Orchard PJ,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1302-1312.
|
||
doi: 10.1056/NEJMoa2400442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38034003">X-linked adrenoleukodystrophy and primary adrenal insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cappa M,
|
||
Todisco T,
|
||
Bizzarri C</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1309053.
|
||
Epub 2023 Nov 16
|
||
doi: 10.3389/fendo.2023.1309053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38034003" target="_blank">38034003</a><a href="/pmc/articles/PMC10687143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32364223">The Changing Face of Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu J,
|
||
Eichler F,
|
||
Biffi A,
|
||
Duncan CN,
|
||
Williams DA,
|
||
Majzoub JA</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2020 Aug 1;41(4):577-93.
|
||
doi: 10.1210/endrev/bnaa013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32364223" target="_blank">32364223</a><a href="/pmc/articles/PMC7286618" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31754699">Thyroid Hormone Transporters.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groeneweg S,
|
||
van Geest FS,
|
||
Peeters RP,
|
||
Heuer H,
|
||
Visser WE</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2020 Apr 1;41(2)
|
||
doi: 10.1210/endrev/bnz008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31754699" target="_blank">31754699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30594472">A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vairo FPE,
|
||
Chwal BC,
|
||
Perini S,
|
||
Ferreira MAP,
|
||
de Freitas Lopes AC,
|
||
Saute JAM</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2019 Jan;126(1):6-13.
|
||
Epub 2018 Dec 11
|
||
doi: 10.1016/j.ymgme.2018.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30594472" target="_blank">30594472</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%201%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (222)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37366140">Parkinson's disease - genetic cause.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cherian A,
|
||
K P D,
|
||
Vijayaraghavan A</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2023 Aug 1;36(4):292-301.
|
||
Epub 2023 May 24
|
||
doi: 10.1097/WCO.0000000000001167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37366140" target="_blank">37366140</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36373727">An update on the diagnosis and treatment of adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gujral J,
|
||
Sethuram S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2023 Feb 1;30(1):44-51.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1097/MED.0000000000000782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36373727" target="_blank">36373727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32364223">The Changing Face of Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu J,
|
||
Eichler F,
|
||
Biffi A,
|
||
Duncan CN,
|
||
Williams DA,
|
||
Majzoub JA</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2020 Aug 1;41(4):577-93.
|
||
doi: 10.1210/endrev/bnaa013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32364223" target="_blank">32364223</a><a href="/pmc/articles/PMC7286618" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
|
||
Pons R,
|
||
Ghaoui R,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):625-636.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1002/mds.27655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20109614">Transplant outcomes in leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orchard PJ,
|
||
Tolar J</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
2010 Jan;47(1):70-8.
|
||
doi: 10.1053/j.seminhematol.2009.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20109614" target="_blank">20109614</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%201%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (327)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38034003">X-linked adrenoleukodystrophy and primary adrenal insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cappa M,
|
||
Todisco T,
|
||
Bizzarri C</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1309053.
|
||
Epub 2023 Nov 16
|
||
doi: 10.3389/fendo.2023.1309053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38034003" target="_blank">38034003</a><a href="/pmc/articles/PMC10687143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37882106">Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura A,
|
||
Matsumura T,
|
||
Ogata K,
|
||
Mori-Yoshimura M,
|
||
Takeshita E,
|
||
Kimura K,
|
||
Kawashima T,
|
||
Tomo Y,
|
||
Arahata H,
|
||
Miyazaki D,
|
||
Takeshima Y,
|
||
Takahashi T,
|
||
Ishigaki K,
|
||
Kuru S,
|
||
Wakisaka A,
|
||
Awano H,
|
||
Funato M,
|
||
Sato T,
|
||
Saito Y,
|
||
Takada H,
|
||
Sugie K,
|
||
Kobayashi M,
|
||
Ozasa S,
|
||
Fujii T,
|
||
Maegaki Y,
|
||
Oi H,
|
||
Tachimori H,
|
||
Komaki H</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2023 Dec;10(12):2360-2372.
|
||
Epub 2023 Oct 26
|
||
doi: 10.1002/acn3.51925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37882106" target="_blank">37882106</a><a href="/pmc/articles/PMC10723226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37366140">Parkinson's disease - genetic cause.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cherian A,
|
||
K P D,
|
||
Vijayaraghavan A</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2023 Aug 1;36(4):292-301.
|
||
Epub 2023 May 24
|
||
doi: 10.1097/WCO.0000000000001167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37366140" target="_blank">37366140</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29180823">HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moortgat S,
|
||
Berland S,
|
||
Aukrust I,
|
||
Maystadt I,
|
||
Baker L,
|
||
Benoit V,
|
||
Caro-Llopis A,
|
||
Cooper NS,
|
||
Debray FG,
|
||
Faivre L,
|
||
Gardeitchik T,
|
||
Haukanes BI,
|
||
Houge G,
|
||
Kivuva E,
|
||
Martinez F,
|
||
Mehta SG,
|
||
Nassogne MC,
|
||
Powell-Hamilton N,
|
||
Pfundt R,
|
||
Rosello M,
|
||
Prescott T,
|
||
Vasudevan P,
|
||
van Loon B,
|
||
Verellen-Dumoulin C,
|
||
Verloes A,
|
||
Lippe CV,
|
||
Wakeling E,
|
||
Wilkie AOM,
|
||
Wilson L,
|
||
Yuen A,
|
||
Study D,
|
||
Low KJ,
|
||
Newbury-Ecob RA</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2018 Jan;26(1):64-74.
|
||
Epub 2017 Nov 27
|
||
doi: 10.1038/s41431-017-0038-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29180823" target="_blank">29180823</a><a href="/pmc/articles/PMC5788272" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19377476">A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tarpey PS,
|
||
Smith R,
|
||
Pleasance E,
|
||
Whibley A,
|
||
Edkins S,
|
||
Hardy C,
|
||
O'Meara S,
|
||
Latimer C,
|
||
Dicks E,
|
||
Menzies A,
|
||
Stephens P,
|
||
Blow M,
|
||
Greenman C,
|
||
Xue Y,
|
||
Tyler-Smith C,
|
||
Thompson D,
|
||
Gray K,
|
||
Andrews J,
|
||
Barthorpe S,
|
||
Buck G,
|
||
Cole J,
|
||
Dunmore R,
|
||
Jones D,
|
||
Maddison M,
|
||
Mironenko T,
|
||
Turner R,
|
||
Turrell K,
|
||
Varian J,
|
||
West S,
|
||
Widaa S,
|
||
Wray P,
|
||
Teague J,
|
||
Butler A,
|
||
Jenkinson A,
|
||
Jia M,
|
||
Richardson D,
|
||
Shepherd R,
|
||
Wooster R,
|
||
Tejada MI,
|
||
Martinez F,
|
||
Carvill G,
|
||
Goliath R,
|
||
de Brouwer AP,
|
||
van Bokhoven H,
|
||
Van Esch H,
|
||
Chelly J,
|
||
Raynaud M,
|
||
Ropers HH,
|
||
Abidi FE,
|
||
Srivastava AK,
|
||
Cox J,
|
||
Luo Y,
|
||
Mallya U,
|
||
Moon J,
|
||
Parnau J,
|
||
Mohammed S,
|
||
Tolmie JL,
|
||
Shoubridge C,
|
||
Corbett M,
|
||
Gardner A,
|
||
Haan E,
|
||
Rujirabanjerd S,
|
||
Shaw M,
|
||
Vandeleur L,
|
||
Fullston T,
|
||
Easton DF,
|
||
Boyle J,
|
||
Partington M,
|
||
Hackett A,
|
||
Field M,
|
||
Skinner C,
|
||
Stevenson RE,
|
||
Bobrow M,
|
||
Turner G,
|
||
Schwartz CE,
|
||
Gecz J,
|
||
Raymond FL,
|
||
Futreal PA,
|
||
Stratton MR</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2009 May;41(5):535-43.
|
||
Epub 2009 Apr 19
|
||
doi: 10.1038/ng.367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19377476" target="_blank">19377476</a><a href="/pmc/articles/PMC2872007" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%201%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (613)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/34670449">Eye and ocular adnexa manifestations of MED12-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah A,
|
||
Bapna M,
|
||
Al-Saif H,
|
||
Li R,
|
||
Couser NL</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Feb;43(1):126-129.
|
||
Epub 2021 Oct 20
|
||
doi: 10.1080/13816810.2021.1989601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34670449" target="_blank">34670449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34271245">MECP2-related conditions in males: A systematic literature review and 8 additional cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Inuzuka LM,
|
||
Guerra-Peixe M,
|
||
Macedo-Souza LI,
|
||
Pedreira CC,
|
||
Gurgel-Giannetti J,
|
||
Monteiro FP,
|
||
Ramos L,
|
||
Costa LA,
|
||
Crippa ACS,
|
||
Lourenco CM,
|
||
Pachito DV,
|
||
Sukys-Claudino L,
|
||
Gaspar LS,
|
||
Antoniuk SA,
|
||
Dutra LPS,
|
||
Diniz SSL,
|
||
Pires RB,
|
||
Garzon E,
|
||
Kok F</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2021 Sep;34:7-13.
|
||
Epub 2021 Jun 21
|
||
doi: 10.1016/j.ejpn.2021.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34271245" target="_blank">34271245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33373467">MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mallack EJ,
|
||
Turk BR,
|
||
Yan H,
|
||
Price C,
|
||
Demetres M,
|
||
Moser AB,
|
||
Becker C,
|
||
Hollandsworth K,
|
||
Adang L,
|
||
Vanderver A,
|
||
Van Haren K,
|
||
Ruzhnikov M,
|
||
Kurtzberg J,
|
||
Maegawa G,
|
||
Orchard PJ,
|
||
Lund TC,
|
||
Raymond GV,
|
||
Regelmann M,
|
||
Orsini JJ,
|
||
Seeger E,
|
||
Kemp S,
|
||
Eichler F,
|
||
Fatemi A</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 May;44(3):728-739.
|
||
Epub 2021 Jan 9
|
||
doi: 10.1002/jimd.12356.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33373467" target="_blank">33373467</a><a href="/pmc/articles/PMC8113077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30594472">A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vairo FPE,
|
||
Chwal BC,
|
||
Perini S,
|
||
Ferreira MAP,
|
||
de Freitas Lopes AC,
|
||
Saute JAM</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2019 Jan;126(1):6-13.
|
||
Epub 2018 Dec 11
|
||
doi: 10.1016/j.ymgme.2018.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30594472" target="_blank">30594472</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20526264">Oral findings in Rett syndrome: a systematic review of the dental literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fuertes-González MC,
|
||
Silvestre FJ,
|
||
Almerich-Silla JM</span><br />
|
||
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
|
||
2011 Jan 1;16(1):e37-41.
|
||
doi: 10.4317/medoral.16.e37.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20526264" target="_blank">20526264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%201%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2931498%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (29)</a></li>
|
||
<li><a href="/gtr/tests?term=C2931498%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2931498%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (34)</a></li>
|
||
<li><a href="/gtr/tests?term=C2931498%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2931498%5bDISCUI%5d" target="_blank">See all (38)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=309530" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Intellectual%20disability,%20X-linked%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20x-linked%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300522" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=23096[geneid]" target="_blank">View IQSEC2 variations in ClinVar</a></li><li><a href="/nuccore/297206694" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=309530" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Mental+retardation%2C+X-linked%2C+nonspecific/4665" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/intellectual_developmental_disorder_x_linked_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Intellectual%20disability,%20X-linked%201" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/22699/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Intellectual%20disability,%20X-linked%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Intellectual%20disability,%20X-linked%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=444070" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=444070" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2931498[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2931498[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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