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<meta name="keywords" content="C4706414, autosomal recessive intellectual disability due to trappc9 (trafficking protein particle complex 9) deficiency, autosomal recessive intellectual disability due to trappc9 deficiency, disease or syndrome, intellectual disability, obesity, brain malformation, facial dysmorphism syndrome, intellectual disability-obesity-brain malformations-facial dysmorphism syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A rare syndromic intellectual disability with primary characteristics of moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1644787
|
||
ConceptID=C4706414
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644787</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:">C4706414</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>Autosomal recessive intellectual disability due to TRAPPC9 (trafficking protein particle complex 9) deficiency; Autosomal recessive intellectual disability due to TRAPPC9 deficiency; autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome; intellectual disability-obesity-brain malformations-facial dysmorphism syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome (763350002); Autosomal recessive intellectual disability due to TRAPPC9 (trafficking protein particle complex 9) deficiency (763350002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018123" target="_blank">MONDO:0018123</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<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=352530">ORPHA352530</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A rare syndromic intellectual disability with primary characteristics of moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826158" ref="tree=MeSH" title="MedGen record for Multiple congenital anomalies/dysmorphic syndrome-intellectual disability">Multiple congenital anomalies/dysmorphic syndrome-intellectual disability</a></span><ul><li><span class="matched_ds">Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome</span></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/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
|
||
Behluli E,
|
||
Grajçevci-Uka V,
|
||
Liehr T,
|
||
Temaj G</span><br />
|
||
<span class="medgenPMjournal">J Mother Child</span>
|
||
2022 Mar 1;26(1):118-123.
|
||
Epub 2023 Feb 22
|
||
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32026885">Fragile X syndrome: clinical presentation, pathology and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salcedo-Arellano MJ,
|
||
Hagerman RJ,
|
||
Martínez-Cerdeño V</span><br />
|
||
<span class="medgenPMjournal">Gac Med Mex</span>
|
||
2020;156(1):60-66.
|
||
doi: 10.24875/GMM.19005275.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32026885" target="_blank">32026885</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20466091">Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller DT,
|
||
Adam MP,
|
||
Aradhya S,
|
||
Biesecker LG,
|
||
Brothman AR,
|
||
Carter NP,
|
||
Church DM,
|
||
Crolla JA,
|
||
Eichler EE,
|
||
Epstein CJ,
|
||
Faucett WA,
|
||
Feuk L,
|
||
Friedman JM,
|
||
Hamosh A,
|
||
Jackson L,
|
||
Kaminsky EB,
|
||
Kok K,
|
||
Krantz ID,
|
||
Kuhn RM,
|
||
Lee C,
|
||
Ostell JM,
|
||
Rosenberg C,
|
||
Scherer SW,
|
||
Spinner NB,
|
||
Stavropoulos DJ,
|
||
Tepperberg JH,
|
||
Thorland EC,
|
||
Vermeesch JR,
|
||
Waggoner DJ,
|
||
Watson MS,
|
||
Martin CL,
|
||
Ledbetter DH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2010 May 14;86(5):749-64.
|
||
doi: 10.1016/j.ajhg.2010.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20466091" target="_blank">20466091</a><a href="/pmc/articles/PMC2869000" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability-obesity-brain%20malformations-facial%20dysmorphism%20syndrome)%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 (354)</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/38766979">Simpson-Golabi-Behmel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaisfeld A,
|
||
Neri G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2024 Dec;196(4):e32088.
|
||
Epub 2024 May 20
|
||
doi: 10.1002/ajmg.c.32088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38766979" target="_blank">38766979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37450557">Epigenetic Causes of Overgrowth Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lui JC,
|
||
Baron J</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2024 Jan 18;109(2):312-320.
|
||
doi: 10.1210/clinem/dgad420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37450557" target="_blank">37450557</a><a href="/pmc/articles/PMC11032252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29724491">Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Dijck A,
|
||
Vulto-van Silfhout AT,
|
||
Cappuyns E,
|
||
van der Werf IM,
|
||
Mancini GM,
|
||
Tzschach A,
|
||
Bernier R,
|
||
Gozes I,
|
||
Eichler EE,
|
||
Romano C,
|
||
Lindstrand A,
|
||
Nordgren A;
|
||
ADNP Consortium,
|
||
Kvarnung M,
|
||
Kleefstra T,
|
||
de Vries BBA,
|
||
Küry S,
|
||
Rosenfeld JA,
|
||
Meuwissen ME,
|
||
Vandeweyer G,
|
||
Kooy RF</span><br />
|
||
<span class="medgenPMjournal">Biol Psychiatry</span>
|
||
2019 Feb 15;85(4):287-297.
|
||
Epub 2018 Mar 15
|
||
doi: 10.1016/j.biopsych.2018.02.1173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29724491" target="_blank">29724491</a><a href="/pmc/articles/PMC6139063" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29897170">Further delineation of Malan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Priolo M,
|
||
Schanze D,
|
||
Tatton-Brown K,
|
||
Mulder PA,
|
||
Tenorio J,
|
||
Kooblall K,
|
||
Acero IH,
|
||
Alkuraya FS,
|
||
Arias P,
|
||
Bernardini L,
|
||
Bijlsma EK,
|
||
Cole T,
|
||
Coubes C,
|
||
Dapia I,
|
||
Davies S,
|
||
Di Donato N,
|
||
Elcioglu NH,
|
||
Fahrner JA,
|
||
Foster A,
|
||
González NG,
|
||
Huber I,
|
||
Iascone M,
|
||
Kaiser AS,
|
||
Kamath A,
|
||
Liebelt J,
|
||
Lynch SA,
|
||
Maas SM,
|
||
Mammì C,
|
||
Mathijssen IB,
|
||
McKee S,
|
||
Menke LA,
|
||
Mirzaa GM,
|
||
Montgomery T,
|
||
Neubauer D,
|
||
Neumann TE,
|
||
Pintomalli L,
|
||
Pisanti MA,
|
||
Plomp AS,
|
||
Price S,
|
||
Salter C,
|
||
Santos-Simarro F,
|
||
Sarda P,
|
||
Segovia M,
|
||
Shaw-Smith C,
|
||
Smithson S,
|
||
Suri M,
|
||
Valdez RM,
|
||
Van Haeringen A,
|
||
Van Hagen JM,
|
||
Zollino M,
|
||
Lapunzina P,
|
||
Thakker RV,
|
||
Zenker M,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2018 Sep;39(9):1226-1237.
|
||
Epub 2018 Jun 25
|
||
doi: 10.1002/humu.23563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29897170" target="_blank">29897170</a><a href="/pmc/articles/PMC6175110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24434855">The genetics of cognitive epigenetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kleefstra T,
|
||
Schenck A,
|
||
Kramer JM,
|
||
van Bokhoven H</span><br />
|
||
<span class="medgenPMjournal">Neuropharmacology</span>
|
||
2014 May;80:83-94.
|
||
Epub 2014 Jan 13
|
||
doi: 10.1016/j.neuropharm.2013.12.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24434855" target="_blank">24434855</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability-obesity-brain%20malformations-facial%20dysmorphism%20syndrome%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 (3509)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37052010">A newborn with coffin-siris syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cui L,
|
||
Jin X</span><br />
|
||
<span class="medgenPMjournal">J Pak Med Assoc</span>
|
||
2023 Apr;73(4):896-900.
|
||
doi: 10.47391/JPMA.5157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37052010" target="_blank">37052010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35633020">Kleefstra Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aydin H,
|
||
Bucak IH,
|
||
Bagis H</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2022 Apr;32(4):S76-S78.
|
||
doi: 10.29271/jcpsp.2022.Supp1.S76.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35633020" target="_blank">35633020</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20466091">Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller DT,
|
||
Adam MP,
|
||
Aradhya S,
|
||
Biesecker LG,
|
||
Brothman AR,
|
||
Carter NP,
|
||
Church DM,
|
||
Crolla JA,
|
||
Eichler EE,
|
||
Epstein CJ,
|
||
Faucett WA,
|
||
Feuk L,
|
||
Friedman JM,
|
||
Hamosh A,
|
||
Jackson L,
|
||
Kaminsky EB,
|
||
Kok K,
|
||
Krantz ID,
|
||
Kuhn RM,
|
||
Lee C,
|
||
Ostell JM,
|
||
Rosenberg C,
|
||
Scherer SW,
|
||
Spinner NB,
|
||
Stavropoulos DJ,
|
||
Tepperberg JH,
|
||
Thorland EC,
|
||
Vermeesch JR,
|
||
Waggoner DJ,
|
||
Watson MS,
|
||
Martin CL,
|
||
Ledbetter DH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2010 May 14;86(5):749-64.
|
||
doi: 10.1016/j.ajhg.2010.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20466091" target="_blank">20466091</a><a href="/pmc/articles/PMC2869000" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3290491">The Coffin-Lowry syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Young ID</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1988 May;25(5):344-8.
|
||
doi: 10.1136/jmg.25.5.344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3290491" target="_blank">3290491</a><a href="/pmc/articles/PMC1050463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3312608">Rubinstein-Taybi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berry AC</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1987 Sep;24(9):562-6.
|
||
doi: 10.1136/jmg.24.9.562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3312608" target="_blank">3312608</a><a href="/pmc/articles/PMC1050269" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability-obesity-brain%20malformations-facial%20dysmorphism%20syndrome%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 (5517)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31727225">Psychopharmacology of neurobehavioral disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mooney LN,
|
||
Dominick KC,
|
||
Erickson CA</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2019;165:383-390.
|
||
doi: 10.1016/B978-0-444-64012-3.00023-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31727225" target="_blank">31727225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30788876">Physical therapy in Down syndrome: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz-González L,
|
||
Lucena-Antón D,
|
||
Salazar A,
|
||
Martín-Valero R,
|
||
Moral-Munoz JA</span><br />
|
||
<span class="medgenPMjournal">J Intellect Disabil Res</span>
|
||
2019 Aug;63(8):1041-1067.
|
||
Epub 2019 Feb 20
|
||
doi: 10.1111/jir.12606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30788876" target="_blank">30788876</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29382506">Klinefelter syndrome: more than hypogonadism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanakis GA,
|
||
Nieschlag E</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2018 Sep;86:135-144.
|
||
Epub 2018 Jan 31
|
||
doi: 10.1016/j.metabol.2017.09.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29382506" target="_blank">29382506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24700618">Epidemiology of fragile X syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hunter J,
|
||
Rivero-Arias O,
|
||
Angelov A,
|
||
Kim E,
|
||
Fotheringham I,
|
||
Leal J</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Jul;164A(7):1648-58.
|
||
Epub 2014 Apr 3
|
||
doi: 10.1002/ajmg.a.36511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24700618" target="_blank">24700618</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5349196">Smith-Lemli-Opitz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinclair L,
|
||
Winterborn MH,
|
||
Brown J</span><br />
|
||
<span class="medgenPMjournal">Proc R Soc Med</span>
|
||
1969 Sep;62(9):907-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5349196" target="_blank">5349196</a><a href="/pmc/articles/PMC1810868" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability-obesity-brain%20malformations-facial%20dysmorphism%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (756)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38277088">A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carvalho LML,
|
||
Jorge AAL,
|
||
Bertola DR,
|
||
Krepischi ACV,
|
||
Rosenberg C</span><br />
|
||
<span class="medgenPMjournal">Curr Obes Rep</span>
|
||
2024 Jun;13(2):313-337.
|
||
Epub 2024 Jan 26
|
||
doi: 10.1007/s13679-023-00543-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38277088" target="_blank">38277088</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25425112">Pallister-Killian syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izumi K,
|
||
Krantz ID</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Dec;166C(4):406-13.
|
||
Epub 2014 Nov 25
|
||
doi: 10.1002/ajmg.c.31423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25425112" target="_blank">25425112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22768674">Warburg Micro syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dursun F,
|
||
Güven A,
|
||
Morris-Rosendahl D</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2012;25(3-4):379-82.
|
||
doi: 10.1515/jpem-2011-0459.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22768674" target="_blank">22768674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20920258">Acro-cardio-facial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Digilio MC,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Sep 29;5:25.
|
||
doi: 10.1186/1750-1172-5-25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20920258" target="_blank">20920258</a><a href="/pmc/articles/PMC2955584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18717867">Rabson-Mendenhall syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parveen BA,
|
||
Sindhuja R</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2008 Aug;47(8):839-41.
|
||
doi: 10.1111/j.1365-4632.2008.03591.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18717867" target="_blank">18717867</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability-obesity-brain%20malformations-facial%20dysmorphism%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1650)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31388190">The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss K,
|
||
Lazar HP,
|
||
Kurolap A,
|
||
Martinez AF,
|
||
Paperna T,
|
||
Cohen L,
|
||
Smeland MF,
|
||
Whalen S,
|
||
Heide S,
|
||
Keren B,
|
||
Terhal P,
|
||
Irving M,
|
||
Takaku M,
|
||
Roberts JD,
|
||
Petrovich RM,
|
||
Schrier Vergano SA,
|
||
Kenney A,
|
||
Hove H,
|
||
DeChene E,
|
||
Quinonez SC,
|
||
Colin E,
|
||
Ziegler A,
|
||
Rumple M,
|
||
Jain M,
|
||
Monteil D,
|
||
Roeder ER,
|
||
Nugent K,
|
||
van Haeringen A,
|
||
Gambello M,
|
||
Santani A,
|
||
Medne L,
|
||
Krock B,
|
||
Skraban CM,
|
||
Zackai EH,
|
||
Dubbs HA,
|
||
Smol T,
|
||
Ghoumid J,
|
||
Parker MJ,
|
||
Wright M,
|
||
Turnpenny P,
|
||
Clayton-Smith J,
|
||
Metcalfe K,
|
||
Kurumizaka H,
|
||
Gelb BD,
|
||
Baris Feldman H,
|
||
Campeau PM,
|
||
Muenke M,
|
||
Wade PA,
|
||
Lachlan K</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Feb;22(2):389-397.
|
||
Epub 2019 Aug 7
|
||
doi: 10.1038/s41436-019-0612-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31388190" target="_blank">31388190</a><a href="/pmc/articles/PMC8900827" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25169814">The ARID1B phenotype: what we have learned so far.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santen GW,
|
||
Clayton-Smith J;
|
||
ARID1B-CSS consortium</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Sep;166C(3):276-89.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1002/ajmg.c.31414.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25169814" target="_blank">25169814</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21841781">A copy number variation morbidity map of developmental delay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper GM,
|
||
Coe BP,
|
||
Girirajan S,
|
||
Rosenfeld JA,
|
||
Vu TH,
|
||
Baker C,
|
||
Williams C,
|
||
Stalker H,
|
||
Hamid R,
|
||
Hannig V,
|
||
Abdel-Hamid H,
|
||
Bader P,
|
||
McCracken E,
|
||
Niyazov D,
|
||
Leppig K,
|
||
Thiese H,
|
||
Hummel M,
|
||
Alexander N,
|
||
Gorski J,
|
||
Kussmann J,
|
||
Shashi V,
|
||
Johnson K,
|
||
Rehder C,
|
||
Ballif BC,
|
||
Shaffer LG,
|
||
Eichler EE</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2011 Aug 14;43(9):838-46.
|
||
doi: 10.1038/ng.909.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21841781" target="_blank">21841781</a><a href="/pmc/articles/PMC3171215" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17958891">Mowat-Wilson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garavelli L,
|
||
Mainardi PC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Oct 24;2:42.
|
||
doi: 10.1186/1750-1172-2-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17958891" target="_blank">17958891</a><a href="/pmc/articles/PMC2174447" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6149320">Hypertelorism-hypospadias syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noe HN,
|
||
Peeden JN,
|
||
Jerkins GR,
|
||
Wilroy RS Jr</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1984 Nov;132(5):951-2.
|
||
doi: 10.1016/s0022-5347(17)49961-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6149320" target="_blank">6149320</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability-obesity-brain%20malformations-facial%20dysmorphism%20syndrome%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 (2903)</a></div></div>
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|
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|
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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="nl"><a target="_blank" href="/pubmed/36526544">Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paprocka J,
|
||
Kaminiów K,
|
||
Yetkin O,
|
||
Tekturk P,
|
||
Baykan B,
|
||
Leiz S,
|
||
Kluger G,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2024 Mar;116:14-23.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1016/j.seizure.2022.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36526544" target="_blank">36526544</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32920658">Neurologic complications of Down syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santoro JD,
|
||
Pagarkar D,
|
||
Chu DT,
|
||
Rosso M,
|
||
Paulsen KC,
|
||
Levitt P,
|
||
Rafii MS</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2021 Dec;268(12):4495-4509.
|
||
Epub 2020 Sep 12
|
||
doi: 10.1007/s00415-020-10179-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32920658" target="_blank">32920658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30788876">Physical therapy in Down syndrome: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz-González L,
|
||
Lucena-Antón D,
|
||
Salazar A,
|
||
Martín-Valero R,
|
||
Moral-Munoz JA</span><br />
|
||
<span class="medgenPMjournal">J Intellect Disabil Res</span>
|
||
2019 Aug;63(8):1041-1067.
|
||
Epub 2019 Feb 20
|
||
doi: 10.1111/jir.12606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30788876" target="_blank">30788876</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24700618">Epidemiology of fragile X syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hunter J,
|
||
Rivero-Arias O,
|
||
Angelov A,
|
||
Kim E,
|
||
Fotheringham I,
|
||
Leal J</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Jul;164A(7):1648-58.
|
||
Epub 2014 Apr 3
|
||
doi: 10.1002/ajmg.a.36511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24700618" target="_blank">24700618</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20500706">Oral health of patients with intellectual disabilities: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anders PL,
|
||
Davis EL</span><br />
|
||
<span class="medgenPMjournal">Spec Care Dentist</span>
|
||
2010 May-Jun;30(3):110-7.
|
||
doi: 10.1111/j.1754-4505.2010.00136.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20500706" target="_blank">20500706</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability-obesity-brain%20malformations-facial%20dysmorphism%20syndrome%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 (98)</a></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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