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<!--
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||
UID=1843233
|
||
ConceptID=C5680471
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Rare disease with autism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1843233</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:">C5680471</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Orphanet:</td>
|
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<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=180772">ORPHA180772</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_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>
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<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=C5680471[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1843233">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=1843233" ref="ncbi_uid=1843233">V</a></span></span><span class="TLline">Rare disease with autism</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Rare disease with autism</span><ul><li><span class="TLline"><a href="/medgen/930247" ref="tree=MeSH" title="MedGen record for 1p21.3 microdeletion syndrome">1p21.3 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78641" ref="tree=MeSH" title="MedGen record for Adenylosuccinate lyase deficiency">Adenylosuccinate lyase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/816240" ref="tree=MeSH" title="MedGen record for Autism spectrum disorder - epilepsy - arthrogryposis syndrome">Autism spectrum disorder - epilepsy - arthrogryposis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/862872" ref="tree=MeSH" title="MedGen record for Autism spectrum disorder due to AUTS2 deficiency">Autism spectrum disorder due to AUTS2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/798742" ref="tree=MeSH" title="MedGen record for Autism-facial port-wine stain syndrome">Autism-facial port-wine stain syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816083" ref="tree=MeSH" title="MedGen record for Developmental delay with autism spectrum disorder and gait instability">Developmental delay with autism spectrum disorder and gait instability</a></span></li><li><span class="TLline"><a href="/medgen/777984" ref="tree=MeSH" title="MedGen record for Duplication/inversion 15q11">Duplication/inversion 15q11</a></span></li><li><span class="TLline"><a href="/medgen/1003782" ref="tree=MeSH" title="MedGen record for Early-onset obesity-hyperphagia-severe developmental delay syndrome">Early-onset obesity-hyperphagia-severe developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8912" ref="tree=MeSH" title="MedGen record for Fragile X syndrome">Fragile X syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1830118" ref="tree=MeSH" title="MedGen record for GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder">GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder</a></span></li><li><span class="TLline"><a href="/medgen/381416" ref="tree=MeSH" title="MedGen record for Macrocephaly-autism syndrome">Macrocephaly-autism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1377894" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination">Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination</a></span></li><li><span class="TLline"><a href="/medgen/162881" ref="tree=MeSH" title="MedGen record for Smith-Magenis syndrome">Smith-Magenis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331395" ref="tree=MeSH" title="MedGen record for Timothy syndrome">Timothy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1802409" ref="tree=MeSH" title="MedGen record for Timothy syndrome type 1">Timothy syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/930016" ref="tree=MeSH" title="MedGen record for Timothy syndrome type 2">Timothy syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/1805271" ref="tree=MeSH" title="MedGen record for Timothy syndrome, atypical type">Timothy syndrome, atypical type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/22518" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis syndrome">Tuberous sclerosis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/325000" ref="tree=MeSH" title="MedGen record for Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis">Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/344288" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 1">Tuberous sclerosis 1</a></span></li><li><span class="TLline"><a href="/medgen/348170" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 2">Tuberous sclerosis 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1648034" ref="tree=MeSH" title="MedGen record for Xq12-q13.3 duplication syndrome">Xq12-q13.3 duplication syndrome</a></span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
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<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/37669572">Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Specchio N,
|
||
Nabbout R,
|
||
Aronica E,
|
||
Auvin S,
|
||
Benvenuto A,
|
||
de Palma L,
|
||
Feucht M,
|
||
Jansen F,
|
||
Kotulska K,
|
||
Sarnat H,
|
||
Lagae L,
|
||
Jozwiak S,
|
||
Curatolo P</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2023 Nov;47:25-34.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1016/j.ejpn.2023.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37669572" target="_blank">37669572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35150089">A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duis J,
|
||
Nespeca M,
|
||
Summers J,
|
||
Bird L,
|
||
Bindels-de Heus KGCB,
|
||
Valstar MJ,
|
||
de Wit MY,
|
||
Navis C,
|
||
Ten Hooven-Radstaake M,
|
||
van Iperen-Kolk BM,
|
||
Ernst S,
|
||
Dendrinos M,
|
||
Katz T,
|
||
Diaz-Medina G,
|
||
Katyayan A,
|
||
Nangia S,
|
||
Thibert R,
|
||
Glaze D,
|
||
Keary C,
|
||
Pelc K,
|
||
Simon N,
|
||
Sadhwani A,
|
||
Heussler H,
|
||
Wheeler A,
|
||
Woeber C,
|
||
DeRamus M,
|
||
Thomas A,
|
||
Kertcher E,
|
||
DeValk L,
|
||
Kalemeris K,
|
||
Arps K,
|
||
Baym C,
|
||
Harris N,
|
||
Gorham JP,
|
||
Bohnsack BL,
|
||
Chambers RC,
|
||
Harris S,
|
||
Chambers HG,
|
||
Okoniewski K,
|
||
Jalazo ER,
|
||
Berent A,
|
||
Bacino CA,
|
||
Williams C,
|
||
Anderson A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2022 Mar;10(3):e1843.
|
||
Epub 2022 Feb 11
|
||
doi: 10.1002/mgg3.1843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35150089" target="_blank">35150089</a><a href="/pmc/articles/PMC8922964" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30677142">Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zollino M,
|
||
Zweier C,
|
||
Van Balkom ID,
|
||
Sweetser DA,
|
||
Alaimo J,
|
||
Bijlsma EK,
|
||
Cody J,
|
||
Elsea SH,
|
||
Giurgea I,
|
||
Macchiaiolo M,
|
||
Smigiel R,
|
||
Thibert RL,
|
||
Benoist I,
|
||
Clayton-Smith J,
|
||
De Winter CF,
|
||
Deckers S,
|
||
Gandhi A,
|
||
Huisman S,
|
||
Kempink D,
|
||
Kruisinga F,
|
||
Lamacchia V,
|
||
Marangi G,
|
||
Menke L,
|
||
Mulder P,
|
||
Nordgren A,
|
||
Renieri A,
|
||
Routledge S,
|
||
Saunders CJ,
|
||
Stembalska A,
|
||
Van Balkom H,
|
||
Whalen S,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2019 Apr;95(4):462-478.
|
||
Epub 2019 Feb 18
|
||
doi: 10.1111/cge.13506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30677142" target="_blank">30677142</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(rare%20disease%20with%20autism)%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 (58)</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/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/32940822">Genetic Advances in Autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thapar A,
|
||
Rutter M</span><br />
|
||
<span class="medgenPMjournal">J Autism Dev Disord</span>
|
||
2021 Dec;51(12):4321-4332.
|
||
doi: 10.1007/s10803-020-04685-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32940822" target="_blank">32940822</a><a href="/pmc/articles/PMC8531042" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31981491">Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Satterstrom FK,
|
||
Kosmicki JA,
|
||
Wang J,
|
||
Breen MS,
|
||
De Rubeis S,
|
||
An JY,
|
||
Peng M,
|
||
Collins R,
|
||
Grove J,
|
||
Klei L,
|
||
Stevens C,
|
||
Reichert J,
|
||
Mulhern MS,
|
||
Artomov M,
|
||
Gerges S,
|
||
Sheppard B,
|
||
Xu X,
|
||
Bhaduri A,
|
||
Norman U,
|
||
Brand H,
|
||
Schwartz G,
|
||
Nguyen R,
|
||
Guerrero EE,
|
||
Dias C;
|
||
Autism Sequencing Consortium;
|
||
iPSYCH-Broad Consortium,
|
||
Betancur C,
|
||
Cook EH,
|
||
Gallagher L,
|
||
Gill M,
|
||
Sutcliffe JS,
|
||
Thurm A,
|
||
Zwick ME,
|
||
Børglum AD,
|
||
State MW,
|
||
Cicek AE,
|
||
Talkowski ME,
|
||
Cutler DJ,
|
||
Devlin B,
|
||
Sanders SJ,
|
||
Roeder K,
|
||
Daly MJ,
|
||
Buxbaum JD</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
2020 Feb 6;180(3):568-584.e23.
|
||
Epub 2020 Jan 23
|
||
doi: 10.1016/j.cell.2019.12.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31981491" target="_blank">31981491</a><a href="/pmc/articles/PMC7250485" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24074734">Autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai MC,
|
||
Lombardo MV,
|
||
Baron-Cohen S</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2014 Mar 8;383(9920):896-910.
|
||
Epub 2013 Sep 26
|
||
doi: 10.1016/S0140-6736(13)61539-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24074734" target="_blank">24074734</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rare%20disease%20with%20autism%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 (654)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33805950">Kabuki Syndrome-Clinical Review with Molecular Aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boniel S,
|
||
Szymańska K,
|
||
Śmigiel R,
|
||
Szczałuba K</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Mar 25;12(4)
|
||
doi: 10.3390/genes12040468.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33805950" target="_blank">33805950</a><a href="/pmc/articles/PMC8064399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32940822">Genetic Advances in Autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thapar A,
|
||
Rutter M</span><br />
|
||
<span class="medgenPMjournal">J Autism Dev Disord</span>
|
||
2021 Dec;51(12):4321-4332.
|
||
doi: 10.1007/s10803-020-04685-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32940822" target="_blank">32940822</a><a href="/pmc/articles/PMC8531042" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31904117">SCN1A-related phenotypes: Epilepsy and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheffer IE,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2019 Dec;60 Suppl 3:S17-S24.
|
||
doi: 10.1111/epi.16386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31904117" target="_blank">31904117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29437020">Anorexia Nervosa and Comorbid Psychopathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marucci S,
|
||
Ragione LD,
|
||
De Iaco G,
|
||
Mococci T,
|
||
Vicini M,
|
||
Guastamacchia E,
|
||
Triggiani V</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2018;18(4):316-324.
|
||
doi: 10.2174/1871530318666180213111637.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29437020" target="_blank">29437020</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24074734">Autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai MC,
|
||
Lombardo MV,
|
||
Baron-Cohen S</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2014 Mar 8;383(9920):896-910.
|
||
Epub 2013 Sep 26
|
||
doi: 10.1016/S0140-6736(13)61539-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24074734" target="_blank">24074734</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rare%20disease%20with%20autism%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 (607)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37669572">Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Specchio N,
|
||
Nabbout R,
|
||
Aronica E,
|
||
Auvin S,
|
||
Benvenuto A,
|
||
de Palma L,
|
||
Feucht M,
|
||
Jansen F,
|
||
Kotulska K,
|
||
Sarnat H,
|
||
Lagae L,
|
||
Jozwiak S,
|
||
Curatolo P</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2023 Nov;47:25-34.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1016/j.ejpn.2023.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37669572" target="_blank">37669572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37291210">Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neul JL,
|
||
Percy AK,
|
||
Benke TA,
|
||
Berry-Kravis EM,
|
||
Glaze DG,
|
||
Marsh ED,
|
||
Lin T,
|
||
Stankovic S,
|
||
Bishop KM,
|
||
Youakim JM</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2023 Jun;29(6):1468-1475.
|
||
Epub 2023 Jun 8
|
||
doi: 10.1038/s41591-023-02398-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37291210" target="_blank">37291210</a><a href="/pmc/articles/PMC10287558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35963265">Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curatolo P,
|
||
Specchio N,
|
||
Aronica E</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2022 Sep;21(9):843-856.
|
||
doi: 10.1016/S1474-4422(22)00213-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35963265" target="_blank">35963265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34431999">Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen KM,
|
||
Liu Y,
|
||
Koko M,
|
||
Gjerulfsen CE,
|
||
Sonnenberg L,
|
||
Schubert J,
|
||
Fenger CD,
|
||
Eltokhi A,
|
||
Rannap M,
|
||
Koch NA,
|
||
Lauxmann S,
|
||
Krüger J,
|
||
Kegele J,
|
||
Canafoglia L,
|
||
Franceschetti S,
|
||
Mayer T,
|
||
Rebstock J,
|
||
Zacher P,
|
||
Ruf S,
|
||
Alber M,
|
||
Sterbova K,
|
||
Lassuthová P,
|
||
Vlckova M,
|
||
Lemke JR,
|
||
Platzer K,
|
||
Krey I,
|
||
Heine C,
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|
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Epub 2019 Jan 17
|
||
doi: 10.1016/j.cell.2018.12.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30661751" target="_blank">30661751</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29437020">Anorexia Nervosa and Comorbid Psychopathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marucci S,
|
||
Ragione LD,
|
||
De Iaco G,
|
||
Mococci T,
|
||
Vicini M,
|
||
Guastamacchia E,
|
||
Triggiani V</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2018;18(4):316-324.
|
||
doi: 10.2174/1871530318666180213111637.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29437020" target="_blank">29437020</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rare%20disease%20with%20autism%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 (468)</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/33993403">Autism Spectrum Disorder and Clinical High Risk for Psychosis: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaquerizo-Serrano J,
|
||
Salazar de Pablo G,
|
||
Singh J,
|
||
Santosh P</span><br />
|
||
<span class="medgenPMjournal">J Autism Dev Disord</span>
|
||
2022 Apr;52(4):1568-1586.
|
||
Epub 2021 May 15
|
||
doi: 10.1007/s10803-021-05046-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33993403" target="_blank">33993403</a><a href="/pmc/articles/PMC8938385" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34906264">Catatonia in autism spectrum disorders: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaquerizo-Serrano J,
|
||
Salazar De Pablo G,
|
||
Singh J,
|
||
Santosh P</span><br />
|
||
<span class="medgenPMjournal">Eur Psychiatry</span>
|
||
2021 Dec 15;65(1):e4.
|
||
doi: 10.1192/j.eurpsy.2021.2259.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34906264" target="_blank">34906264</a><a href="/pmc/articles/PMC8792870" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33189026">Syndromic Autism Revisited: Review of the Literature and Lessons Learned.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziats CA,
|
||
Patterson WG,
|
||
Friez M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2021 Jan;114:21-25.
|
||
Epub 2020 Jun 28
|
||
doi: 10.1016/j.pediatrneurol.2020.06.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33189026" target="_blank">33189026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31879555">Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolevzon A,
|
||
Delaby E,
|
||
Berry-Kravis E,
|
||
Buxbaum JD,
|
||
Betancur C</span><br />
|
||
<span class="medgenPMjournal">Mol Autism</span>
|
||
2019;10:50.
|
||
Epub 2019 Dec 24
|
||
doi: 10.1186/s13229-019-0291-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31879555" target="_blank">31879555</a><a href="/pmc/articles/PMC6930682" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30182779">Genetic susceptibility to cerebrovascular disease: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Griessenauer CJ,
|
||
Farrell S,
|
||
Sarkar A,
|
||
Zand R,
|
||
Abedi V,
|
||
Holland N,
|
||
Michael A,
|
||
Cummings CL,
|
||
Metpally R,
|
||
Carey DJ,
|
||
Goren O,
|
||
Martin N,
|
||
Hendrix P,
|
||
Schirmer CM</span><br />
|
||
<span class="medgenPMjournal">J Cereb Blood Flow Metab</span>
|
||
2018 Nov;38(11):1853-1871.
|
||
Epub 2018 Sep 5
|
||
doi: 10.1177/0271678X18797958.
|
||
<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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rare%20disease%20with%20autism%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 (20)</a></div></div>
|
||
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|
||
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|
||
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|
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|
||
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|
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|
||
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|
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|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5680471%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5680471%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=180772" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Rare%20disease%20with%20autism" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(rare%20disease%20with%20autism)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Rare%20disease%20with%20autism%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Rare%20disease%20with%20autism" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed?term=Rare%20disease%20with%20autism%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1843233" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5680471[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5680471[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1843233" ref="log$=recordlinks">PMC Articles</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d0c13f84f3725e59f1bec5">Rare disease with autism</a>
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<div class="ralinkpop offscreen_noflow">Rare disease with autism<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d0c13da68b6b5afc2dec98">C5680471[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d0c13cf4a390645ef4cd26">C5543339[trait identifier] AND "Genetics Laboratory, UDIAT-Centre... <span class="number">(1)</span></a>
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<div class="ralinkpop offscreen_noflow">C5543339[trait identifier] AND "Genetics Laboratory, UDIAT-Centre Diagnostic, Hospital Universitari Parc Tauli"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d0c13bf4a390645ef4c9b1">C0751884[trait identifier] AND "Genetics Laboratory, UDIAT-Centre... <span class="number">(1)</span></a>
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<div class="ralinkpop offscreen_noflow">C0751884[trait identifier] AND "Genetics Laboratory, UDIAT-Centre Diagnostic, Hospital Universitari Parc Tauli"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d0c13aa68b6b5afc2de1e2">C1853490[trait identifier] AND "Genetics Laboratory, UDIAT-Centre... <span class="number">(1)</span></a>
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