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<meta name="keywords" content="C1853755, autism 5, autism, susceptibility to, 5, autism, susceptibility to, 5, formerly, autism-related speech delay, auts5, auts5, formerly, disease or syndrome, iddas, intellectual developmental disorder with autism and speech delay, phrase speech delay, autism-related, tbr1, 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="IDDAS is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits (Deriziotis et al., 2014; den Hoed et al., 2018)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=340048
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ConceptID=C1853755
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autism, susceptibility to, 5<span class="h1sub">(IDDAS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340048</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:">C1853755</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>Autism 5; AUTISM-RELATED SPEECH DELAY; AUTS5; IDDAS; INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY; PHRASE SPEECH DELAY, AUTISM-RELATED</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="TBR1 - ID: 10716 - NCBI Gene" href="/gene/10716" class="medgenPMinfo">TBR1</a> (2q24.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011627" target="_blank">MONDO:0011627</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/606053" target="_blank">606053</a></td></tr>
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</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">IDDAS is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits (Deriziotis et al., 2014; den Hoed et al., 2018). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</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_13966"><div><strong>Autism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13966</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.">C0004352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5. Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13966">Feature record</a> | <a href="/medgen?term=%22Autism%22%5BClinical%20Features%5D%20OR%2013966%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48638"><div><strong>Intellectual disability, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48638</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.">C0036857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48638">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20severe%22%5BClinical%20Features%5D%20OR%2048638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</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.">C0038271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66034"><div><strong>Delayed ability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66034</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.">C0241726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20walk%22%5BClinical%20Features%5D%20OR%2066034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120579"><div><strong>Macrogyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120579</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.">C0266483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120579">Feature record</a> | <a href="/medgen?term=%22Macrogyria%22%5BClinical%20Features%5D%20OR%20120579%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_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107860"><div><strong>Inability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107860</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.">C0560046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Incapability to ambulate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107860">Feature record</a> | <a href="/medgen?term=%22Inability%20to%20walk%22%5BClinical%20Features%5D%20OR%20107860%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868342"><div><strong>Reduced social responsiveness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868342</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.">C4022736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868342">Feature record</a> | <a href="/medgen?term=%22Reduced%20social%20responsiveness%22%5BClinical%20Features%5D%20OR%20868342%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%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="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 musculoskeletal system</span><ul><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_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</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_13966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to walk</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_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrogyria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868342" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced social responsiveness</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1510586[DISCUI]&test_type=Clinical" ref="ncbi_uid=307153">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1510586[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=307153">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=307153" target="_blank" href="/omim/209850">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=307153" ref="ncbi_uid=307153">V</a></span></span><span class="TLline"><a href="/medgen/307153" ref="tree=GTR&ncbi_uid=307153&link_uid=307153" title="View MedGen record for 'Autism spectrum disorder'">Autism spectrum disorder</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0236792[DISCUI]&test_type=Clinical" ref="ncbi_uid=68633">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/68633" ref="tree=GTR&ncbi_uid=68633&link_uid=68633" title="View MedGen record for 'Asperger syndrome'">Asperger syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1800816" ref="tree=GTR&ncbi_uid=1800816&link_uid=1800816" title="View MedGen record for 'Asperger syndrome, susceptibility to'">Asperger syndrome, susceptibility to</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325218" target="_blank" href="/omim/608638">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/325218" ref="tree=GTR&ncbi_uid=325218&link_uid=325218" title="View MedGen record for 'Asperger syndrome, susceptibility to, 1'">Asperger syndrome, susceptibility to, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332517" target="_blank" href="/omim/608631">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/332517" ref="tree=GTR&ncbi_uid=332517&link_uid=332517" title="View MedGen record for 'Asperger syndrome, susceptibility to, 2'">Asperger syndrome, susceptibility to, 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373329" target="_blank" href="/omim/608781">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/373329" ref="tree=GTR&ncbi_uid=373329&link_uid=373329" title="View MedGen record for 'Asperger syndrome, susceptibility to, 3'">Asperger syndrome, susceptibility to, 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400650" target="_blank" href="/omim/609954">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/400650" ref="tree=GTR&ncbi_uid=400650&link_uid=400650" title="View MedGen record for 'Asperger syndrome, susceptibility to, 4'">Asperger syndrome, susceptibility to, 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN029334[DISCUI]&test_type=Clinical" ref="ncbi_uid=1841524">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1841524" ref="tree=GTR&ncbi_uid=1841524&link_uid=1841524" title="View MedGen record for 'Asperger syndrome, X-linked, susceptibility to, 1'">Asperger syndrome, X-linked, susceptibility to, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN029122[DISCUI]&test_type=Clinical" ref="ncbi_uid=1841532">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=1841532" ref="ncbi_uid=1841532">V</a></span></span><span class="TLline"><a href="/medgen/1841532" ref="tree=GTR&ncbi_uid=1841532&link_uid=1841532" title="View MedGen record for 'Asperger syndrome, X-linked, susceptibility to, 2'">Asperger syndrome, X-linked, susceptibility to, 2</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0004352[DISCUI]&test_type=Clinical" ref="ncbi_uid=13966">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=13966" target="_blank" href="/omim/209850">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=13966" ref="ncbi_uid=13966">V</a></span></span><span class="TLline"><a href="/medgen/13966" ref="tree=GTR&ncbi_uid=13966&link_uid=13966" title="View MedGen record for 'Autism'">Autism</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1968924[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=369890">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369890" target="_blank" href="/omim/209850">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=369890" ref="ncbi_uid=369890">V</a></span></span><span class="TLline"><a href="/medgen/369890" ref="tree=GTR&ncbi_uid=369890&link_uid=369890" title="View MedGen record for 'Autism, susceptibility to, 1'">Autism, susceptibility to, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842632[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=334211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334211" target="_blank" href="/omim/608049">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/334211" ref="tree=GTR&ncbi_uid=334211&link_uid=334211" title="View MedGen record for 'Autism, susceptibility to, 3'">Autism, susceptibility to, 3</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853755[DISCUI]&test_type=Clinical" ref="ncbi_uid=340048">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340048" target="_blank" href="/omim/604616">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=340048" ref="ncbi_uid=340048">V</a></span></span><span class="TLline">Autism, susceptibility to, 5</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324472" target="_blank" href="/omim/609378">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/324472" ref="tree=GTR&ncbi_uid=324472&link_uid=324472" title="View MedGen record for 'Autism, susceptibility to, 6'">Autism, susceptibility to, 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410155" target="_blank" href="/omim/610676">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/410155" ref="tree=GTR&ncbi_uid=410155&link_uid=410155" title="View MedGen record for 'Autism, susceptibility to, 7'">Autism, susceptibility to, 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409897" target="_blank" href="/omim/607373">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/409897" ref="tree=GTR&ncbi_uid=409897&link_uid=409897" title="View MedGen record for 'Autism, susceptibility to, 8'">Autism, susceptibility to, 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1845539[DISCUI]&test_type=Clinical" ref="ncbi_uid=336964">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336964" target="_blank" href="/omim/300427">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=336964" ref="ncbi_uid=336964">V</a></span></span><span class="TLline"><a href="/medgen/336964" ref="tree=GTR&ncbi_uid=336964&link_uid=336964" title="View MedGen record for 'Autism, susceptibility to, X-linked 2'">Autism, susceptibility to, X-linked 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1845336[DISCUI]&test_type=Clinical" ref="ncbi_uid=335161">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335161" target="_blank" href="/omim/300005">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1497/" ref="ncbi_uid=335161">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335161" ref="ncbi_uid=335161">V</a></span></span><span class="TLline"><a href="/medgen/335161" ref="tree=GTR&ncbi_uid=335161&link_uid=335161" title="View MedGen record for 'Autism, susceptibility to, X-linked 3'">Autism, susceptibility to, X-linked 3</a></span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/985929" ref="tree=GTR&ncbi_uid=985929&link_uid=985929" title="View MedGen record for 'Autism, susceptiblity to'">Autism, susceptiblity to</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/472967" ref="tree=GTR&ncbi_uid=472967&link_uid=472967" title="View MedGen record for 'Childhood disintegrative disorder'">Childhood disintegrative disorder</a></span></li></ul></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/887" ref="tree=MeSH" title="MedGen record for Child Development Disorders, Pervasive">Child Development Disorders, Pervasive</a></span><ul><li><span class="TLline"><a href="/medgen/307153" ref="tree=MeSH" title="MedGen record for Autism spectrum disorder">Autism spectrum disorder</a></span><ul><li><span class="matched_ds">Autism, susceptibility to, 5</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/39647930">Genotype-Phenotype Correlations in SYNGAP1-Related Mental Retardation Type 5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong L,
|
||
Yuan Q</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2025 Feb;107(2):136-146.
|
||
Epub 2024 Dec 8
|
||
doi: 10.1111/cge.14661.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39647930" target="_blank">39647930</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38760282">French guidelines for the diagnosis and management of Tourette syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartmann A,
|
||
Ansquer S,
|
||
Brefel-Courbon C,
|
||
Burbaud P,
|
||
Castrioto A,
|
||
Czernecki V,
|
||
Damier P,
|
||
Deniau E,
|
||
Drapier S,
|
||
Jalenques I,
|
||
Marechal O,
|
||
Priou T,
|
||
Spodenkiewicz M,
|
||
Thobois S,
|
||
Roubertie A,
|
||
Witjas T,
|
||
Anheim M</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2024 Oct;180(8):818-827.
|
||
Epub 2024 May 17
|
||
doi: 10.1016/j.neurol.2024.04.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38760282" target="_blank">38760282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11276404">The pathophysiology and treatment of autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Posey DJ,
|
||
McDougle CJ</span><br />
|
||
<span class="medgenPMjournal">Curr Psychiatry Rep</span>
|
||
2001 Apr;3(2):101-8.
|
||
doi: 10.1007/s11920-001-0006-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11276404" target="_blank">11276404</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autism%2C%20susceptibility%20to%2C%205)%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 (15)</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/36368308">Genomic architecture of autism from comprehensive whole-genome sequence annotation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trost B,
|
||
Thiruvahindrapuram B,
|
||
Chan AJS,
|
||
Engchuan W,
|
||
Higginbotham EJ,
|
||
Howe JL,
|
||
Loureiro LO,
|
||
Reuter MS,
|
||
Roshandel D,
|
||
Whitney J,
|
||
Zarrei M,
|
||
Bookman M,
|
||
Somerville C,
|
||
Shaath R,
|
||
Abdi M,
|
||
Aliyev E,
|
||
Patel RV,
|
||
Nalpathamkalam T,
|
||
Pellecchia G,
|
||
Hamdan O,
|
||
Kaur G,
|
||
Wang Z,
|
||
MacDonald JR,
|
||
Wei J,
|
||
Sung WWL,
|
||
Lamoureux S,
|
||
Hoang N,
|
||
Selvanayagam T,
|
||
Deflaux N,
|
||
Geng M,
|
||
Ghaffari S,
|
||
Bates J,
|
||
Young EJ,
|
||
Ding Q,
|
||
Shum C,
|
||
D'Abate L,
|
||
Bradley CA,
|
||
Rutherford A,
|
||
Aguda V,
|
||
Apresto B,
|
||
Chen N,
|
||
Desai S,
|
||
Du X,
|
||
Fong MLY,
|
||
Pullenayegum S,
|
||
Samler K,
|
||
Wang T,
|
||
Ho K,
|
||
Paton T,
|
||
Pereira SL,
|
||
Herbrick JA,
|
||
Wintle RF,
|
||
Fuerth J,
|
||
Noppornpitak J,
|
||
Ward H,
|
||
Magee P,
|
||
Al Baz A,
|
||
Kajendirarajah U,
|
||
Kapadia S,
|
||
Vlasblom J,
|
||
Valluri M,
|
||
Green J,
|
||
Seifer V,
|
||
Quirbach M,
|
||
Rennie O,
|
||
Kelley E,
|
||
Masjedi N,
|
||
Lord C,
|
||
Szego MJ,
|
||
Zawati MH,
|
||
Lang M,
|
||
Strug LJ,
|
||
Marshall CR,
|
||
Costain G,
|
||
Calli K,
|
||
Iaboni A,
|
||
Yusuf A,
|
||
Ambrozewicz P,
|
||
Gallagher L,
|
||
Amaral DG,
|
||
Brian J,
|
||
Elsabbagh M,
|
||
Georgiades S,
|
||
Messinger DS,
|
||
Ozonoff S,
|
||
Sebat J,
|
||
Sjaarda C,
|
||
Smith IM,
|
||
Szatmari P,
|
||
Zwaigenbaum L,
|
||
Kushki A,
|
||
Frazier TW,
|
||
Vorstman JAS,
|
||
Fakhro KA,
|
||
Fernandez BA,
|
||
Lewis MES,
|
||
Weksberg R,
|
||
Fiume M,
|
||
Yuen RKC,
|
||
Anagnostou E,
|
||
Sondheimer N,
|
||
Glazer D,
|
||
Hartley DM,
|
||
Scherer SW</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
2022 Nov 10;185(23):4409-4427.e18.
|
||
doi: 10.1016/j.cell.2022.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36368308" target="_blank">36368308</a><a href="/pmc/articles/PMC10726699" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35982160">Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fu JM,
|
||
Satterstrom FK,
|
||
Peng M,
|
||
Brand H,
|
||
Collins RL,
|
||
Dong S,
|
||
Wamsley B,
|
||
Klei L,
|
||
Wang L,
|
||
Hao SP,
|
||
Stevens CR,
|
||
Cusick C,
|
||
Babadi M,
|
||
Banks E,
|
||
Collins B,
|
||
Dodge S,
|
||
Gabriel SB,
|
||
Gauthier L,
|
||
Lee SK,
|
||
Liang L,
|
||
Ljungdahl A,
|
||
Mahjani B,
|
||
Sloofman L,
|
||
Smirnov AN,
|
||
Barbosa M,
|
||
Betancur C,
|
||
Brusco A,
|
||
Chung BHY,
|
||
Cook EH,
|
||
Cuccaro ML,
|
||
Domenici E,
|
||
Ferrero GB,
|
||
Gargus JJ,
|
||
Herman GE,
|
||
Hertz-Picciotto I,
|
||
Maciel P,
|
||
Manoach DS,
|
||
Passos-Bueno MR,
|
||
Persico AM,
|
||
Renieri A,
|
||
Sutcliffe JS,
|
||
Tassone F,
|
||
Trabetti E,
|
||
Campos G,
|
||
Cardaropoli S,
|
||
Carli D,
|
||
Chan MCY,
|
||
Fallerini C,
|
||
Giorgio E,
|
||
Girardi AC,
|
||
Hansen-Kiss E,
|
||
Lee SL,
|
||
Lintas C,
|
||
Ludena Y,
|
||
Nguyen R,
|
||
Pavinato L,
|
||
Pericak-Vance M,
|
||
Pessah IN,
|
||
Schmidt RJ,
|
||
Smith M,
|
||
Costa CIS,
|
||
Trajkova S,
|
||
Wang JYT,
|
||
Yu MHC;
|
||
Autism Sequencing Consortium (ASC);
|
||
Broad Institute Center for Common Disease Genomics (Broad-CCDG);
|
||
iPSYCH-BROAD Consortium,
|
||
Cutler DJ,
|
||
De Rubeis S,
|
||
Buxbaum JD,
|
||
Daly MJ,
|
||
Devlin B,
|
||
Roeder K,
|
||
Sanders SJ,
|
||
Talkowski ME</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2022 Sep;54(9):1320-1331.
|
||
Epub 2022 Aug 18
|
||
doi: 10.1038/s41588-022-01104-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35982160" target="_blank">35982160</a><a href="/pmc/articles/PMC9653013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35982159">Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou X,
|
||
Feliciano P,
|
||
Shu C,
|
||
Wang T,
|
||
Astrovskaya I,
|
||
Hall JB,
|
||
Obiajulu JU,
|
||
Wright JR,
|
||
Murali SC,
|
||
Xu SX,
|
||
Brueggeman L,
|
||
Thomas TR,
|
||
Marchenko O,
|
||
Fleisch C,
|
||
Barns SD,
|
||
Snyder LG,
|
||
Han B,
|
||
Chang TS,
|
||
Turner TN,
|
||
Harvey WT,
|
||
Nishida A,
|
||
O'Roak BJ,
|
||
Geschwind DH;
|
||
SPARK Consortium,
|
||
Michaelson JJ,
|
||
Volfovsky N,
|
||
Eichler EE,
|
||
Shen Y,
|
||
Chung WK</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2022 Sep;54(9):1305-1319.
|
||
Epub 2022 Aug 18
|
||
doi: 10.1038/s41588-022-01148-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35982159" target="_blank">35982159</a><a href="/pmc/articles/PMC9470534" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33004838">Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang T,
|
||
Hoekzema K,
|
||
Vecchio D,
|
||
Wu H,
|
||
Sulovari A,
|
||
Coe BP,
|
||
Gillentine MA,
|
||
Wilfert AB,
|
||
Perez-Jurado LA,
|
||
Kvarnung M,
|
||
Sleyp Y,
|
||
Earl RK,
|
||
Rosenfeld JA,
|
||
Geisheker MR,
|
||
Han L,
|
||
Du B,
|
||
Barnett C,
|
||
Thompson E,
|
||
Shaw M,
|
||
Carroll R,
|
||
Friend K,
|
||
Catford R,
|
||
Palmer EE,
|
||
Zou X,
|
||
Ou J,
|
||
Li H,
|
||
Guo H,
|
||
Gerdts J,
|
||
Avola E,
|
||
Calabrese G,
|
||
Elia M,
|
||
Greco D,
|
||
Lindstrand A,
|
||
Nordgren A,
|
||
Anderlid BM,
|
||
Vandeweyer G,
|
||
Van Dijck A,
|
||
Van der Aa N,
|
||
McKenna B,
|
||
Hancarova M,
|
||
Bendova S,
|
||
Havlovicova M,
|
||
Malerba G,
|
||
Bernardina BD,
|
||
Muglia P,
|
||
van Haeringen A,
|
||
Hoffer MJV,
|
||
Franke B,
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<div class="nl"><a target="_blank" href="/pubmed/30831578">Measles, Mumps, Rubella Vaccination and Autism: A Nationwide Cohort Study.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26580448">Germline Mutations in Predisposition Genes in Pediatric Cancer.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autism%2C%20susceptibility%20to%2C%205%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 (341)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
|
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<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/39092588">A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Goh S,
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Thiyagarajan L,
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Dudding-Byth T,
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Pinese M,
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2025 Jan;27(1):101227.
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Epub 2024 Jul 30
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doi: 10.1016/j.gim.2024.101227.
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<span class="bold">PMID: </span><a href="/pubmed/39092588" target="_blank">39092588</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/34929192">Evidence of susceptibility to autism risks associated with early life ambient air pollution: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yu X,
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Rahman MM,
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Wang Z,
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Carter SA,
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Schwartz J,
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Chen Z,
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Eckel SP,
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Hackman D,
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Chen JC,
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<span class="medgenPMjournal">Environ Res</span>
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2022 May 15;208:112590.
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Epub 2021 Dec 17
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doi: 10.1016/j.envres.2021.112590.
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<span class="bold">PMID: </span><a href="/pubmed/34929192" target="_blank">34929192</a><a href="/pmc/articles/PMC11409923" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34115189">Genetic risk factors for autism-spectrum disorders: a systematic review based on systematic reviews and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wei H,
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Zhu Y,
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Wang T,
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Zhang X,
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Zhang K,
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Zhang Z</span><br />
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<span class="medgenPMjournal">J Neural Transm (Vienna)</span>
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2021 Jun;128(6):717-734.
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Epub 2021 Jun 11
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doi: 10.1007/s00702-021-02360-w.
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<span class="bold">PMID: </span><a href="/pubmed/34115189" target="_blank">34115189</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30182779">Genetic susceptibility to cerebrovascular disease: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Griessenauer CJ,
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Farrell S,
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Sarkar A,
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Zand R,
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Abedi V,
|
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Holland N,
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Michael A,
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Cummings CL,
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Metpally R,
|
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Carey DJ,
|
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Goren O,
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Martin N,
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Hendrix P,
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Schirmer CM</span><br />
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<span class="medgenPMjournal">J Cereb Blood Flow Metab</span>
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2018 Nov;38(11):1853-1871.
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Epub 2018 Sep 5
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doi: 10.1177/0271678X18797958.
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||
<span class="bold">PMID: </span><a href="/pubmed/30182779" target="_blank">30182779</a><a href="/pmc/articles/PMC6259318" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26709141">Heritability of autism spectrum disorders: a meta-analysis of twin studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tick B,
|
||
Bolton P,
|
||
Happé F,
|
||
Rutter M,
|
||
Rijsdijk F</span><br />
|
||
<span class="medgenPMjournal">J Child Psychol Psychiatry</span>
|
||
2016 May;57(5):585-95.
|
||
Epub 2015 Dec 27
|
||
doi: 10.1111/jcpp.12499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26709141" target="_blank">26709141</a><a href="/pmc/articles/PMC4996332" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autism%2C%20susceptibility%20to%2C%205%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 (13)</a></div></div>
|
||
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|
||
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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<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>
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<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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1853755%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853755%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853755%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1853755%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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</ul></div>
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<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=606053" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autism,%20susceptibility%20to,%205" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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