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<meta name="keywords" content="C5882684, disease or syndrome, nedfba, neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, srsf1, 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="Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (NEDFBA) is characterized by developmental delay with variably impaired intellectual development with speech delay, behavioral abnormalities, and nonrecurrent dysmorphic facial features. Additional features may include hypotonia, skeletal anomalies such as scoliosis or pectus defects, and visual problems such as strabismus and myopia (Bogaert et al., 2023)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1852093
|
||
ConceptID=C5882684
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities<span class="h1sub">(NEDFBA)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1852093</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:">C5882684</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>NEDFBA</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="SRSF1 - ID: 6426 - NCBI Gene" href="/gene/6426" class="medgenPMinfo">SRSF1</a> (17q22)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0957583" target="_blank">MONDO:0957583</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620489" target="_blank">620489</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">Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (NEDFBA) is characterized by developmental delay with variably impaired intellectual development with speech delay, behavioral abnormalities, and nonrecurrent dysmorphic facial features. Additional features may include hypotonia, skeletal anomalies such as scoliosis or pectus defects, and visual problems such as strabismus and myopia (Bogaert et al., 2023). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
|
||
<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/29436146">Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zarate YA,
|
||
Smith-Hicks CL,
|
||
Greene C,
|
||
Abbott MA,
|
||
Siu VM,
|
||
Calhoun ARUL,
|
||
Pandya A,
|
||
Li C,
|
||
Sellars EA,
|
||
Kaylor J,
|
||
Bosanko K,
|
||
Kalsner L,
|
||
Basinger A,
|
||
Slavotinek AM,
|
||
Perry H,
|
||
Saenz M,
|
||
Szybowska M,
|
||
Wilson LC,
|
||
Kumar A,
|
||
Brain C,
|
||
Balasubramanian M,
|
||
Dubbs H,
|
||
Ortiz-Gonzalez XR,
|
||
Zackai E,
|
||
Stein Q,
|
||
Powell CM,
|
||
Schrier Vergano S,
|
||
Britt A,
|
||
Sun A,
|
||
Smith W,
|
||
Bebin EM,
|
||
Picker J,
|
||
Kirby A,
|
||
Pinz H,
|
||
Bombei H,
|
||
Mahida S,
|
||
Cohen JS,
|
||
Fatemi A,
|
||
Vernon HJ,
|
||
McClellan R,
|
||
Fleming LR,
|
||
Knyszek B,
|
||
Steinraths M,
|
||
Velasco Gonzalez C,
|
||
Beck AE,
|
||
Golden-Grant KL,
|
||
Egense A,
|
||
Parikh A,
|
||
Raimondi C,
|
||
Angle B,
|
||
Allen W,
|
||
Schott S,
|
||
Algrabli A,
|
||
Robin NH,
|
||
Ray JW,
|
||
Everman DB,
|
||
Gambello MJ,
|
||
Chung WK</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Apr;176(4):925-935.
|
||
Epub 2018 Feb 13
|
||
doi: 10.1002/ajmg.a.38630.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29436146" target="_blank">29436146</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29097605">PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reijnders MRF,
|
||
Janowski R,
|
||
Alvi M,
|
||
Self JE,
|
||
van Essen TJ,
|
||
Vreeburg M,
|
||
Rouhl RPW,
|
||
Stevens SJC,
|
||
Stegmann APA,
|
||
Schieving J,
|
||
Pfundt R,
|
||
van Dijk K,
|
||
Smeets E,
|
||
Stumpel CTRM,
|
||
Bok LA,
|
||
Cobben JM,
|
||
Engelen M,
|
||
Mansour S,
|
||
Whiteford M,
|
||
Chandler KE,
|
||
Douzgou S,
|
||
Cooper NS,
|
||
Tan EC,
|
||
Foo R,
|
||
Lai AHM,
|
||
Rankin J,
|
||
Green A,
|
||
Lönnqvist T,
|
||
Isohanni P,
|
||
Williams S,
|
||
Ruhoy I,
|
||
Carvalho KS,
|
||
Dowling JJ,
|
||
Lev DL,
|
||
Sterbova K,
|
||
Lassuthova P,
|
||
Neupauerová J,
|
||
Waugh JL,
|
||
Keros S,
|
||
Clayton-Smith J,
|
||
Smithson SF,
|
||
Brunner HG,
|
||
van Hoeckel C,
|
||
Anderson M,
|
||
Clowes VE,
|
||
Siu VM,
|
||
Ddd Study T,
|
||
Selber P,
|
||
Leventer RJ,
|
||
Nellaker C,
|
||
Niessing D,
|
||
Hunt D,
|
||
Baralle D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2018 Feb;55(2):104-113.
|
||
Epub 2017 Nov 2
|
||
doi: 10.1136/jmedgenet-2017-104946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29097605" target="_blank">29097605</a><a href="/pmc/articles/PMC5800346" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5008821">The XXY (Klinefelter's) syndrome in childhood: detection and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caldwell PD,
|
||
Smith DW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1972 Feb;80(2):250-8.
|
||
doi: 10.1016/s0022-3476(72)80586-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5008821" target="_blank">5008821</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodevelopmental%20disorder%20with%20dysmorphic%20facies%20and%20behavioral%20abnormalities)%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 (20)</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/38325380">Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shepherdson JL,
|
||
Hutchison K,
|
||
Don DW,
|
||
McGillivray G,
|
||
Choi TI,
|
||
Allan CA,
|
||
Amor DJ,
|
||
Banka S,
|
||
Basel DG,
|
||
Buch LD,
|
||
Carere DA,
|
||
Carroll R,
|
||
Clayton-Smith J,
|
||
Crawford A,
|
||
Dunø M,
|
||
Faivre L,
|
||
Gilfillan CP,
|
||
Gold NB,
|
||
Gripp KW,
|
||
Hobson E,
|
||
Holtz AM,
|
||
Innes AM,
|
||
Isidor B,
|
||
Jackson A,
|
||
Katsonis P,
|
||
Amel Riazat Kesh L;
|
||
Genomics England Research Consortium,
|
||
Küry S,
|
||
Lecoquierre F,
|
||
Lockhart P,
|
||
Maraval J,
|
||
Matsumoto N,
|
||
McCarrier J,
|
||
McCarthy J,
|
||
Miyake N,
|
||
Moey LH,
|
||
Németh AH,
|
||
Østergaard E,
|
||
Patel R,
|
||
Pope K,
|
||
Posey JE,
|
||
Schnur RE,
|
||
Shaw M,
|
||
Stolerman E,
|
||
Taylor JP,
|
||
Wadman E,
|
||
Wakeling E,
|
||
White SM,
|
||
Wong LC,
|
||
Lupski JR,
|
||
Lichtarge O,
|
||
Corbett MA,
|
||
Gecz J,
|
||
Nicolet CM,
|
||
Farnham PJ,
|
||
Kim CH,
|
||
Shinawi M</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2024 Mar 7;111(3):487-508.
|
||
Epub 2024 Feb 6
|
||
doi: 10.1016/j.ajhg.2024.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38325380" target="_blank">38325380</a><a href="/pmc/articles/PMC10940019" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37551667">Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bosch E,
|
||
Popp B,
|
||
Güse E,
|
||
Skinner C,
|
||
van der Sluijs PJ,
|
||
Maystadt I,
|
||
Pinto AM,
|
||
Renieri A,
|
||
Bruno LP,
|
||
Granata S,
|
||
Marcelis C,
|
||
Baysal Ö,
|
||
Hartwich D,
|
||
Holthöfer L,
|
||
Isidor B,
|
||
Cogne B,
|
||
Wieczorek D,
|
||
Capra V,
|
||
Scala M,
|
||
De Marco P,
|
||
Ognibene M,
|
||
Jamra RA,
|
||
Platzer K,
|
||
Carter LB,
|
||
Kuismin O,
|
||
van Haeringen A,
|
||
Maroofian R,
|
||
Valenzuela I,
|
||
Cuscó I,
|
||
Martinez-Agosto JA,
|
||
Rabani AM,
|
||
Mefford HC,
|
||
Pereira EM,
|
||
Close C,
|
||
Anyane-Yeboa K,
|
||
Wagner M,
|
||
Hannibal MC,
|
||
Zacher P,
|
||
Thiffault I,
|
||
Beunders G,
|
||
Umair M,
|
||
Bhola PT,
|
||
McGinnis E,
|
||
Millichap J,
|
||
van de Kamp JM,
|
||
Prijoles EJ,
|
||
Dobson A,
|
||
Shillington A,
|
||
Graham BH,
|
||
Garcia EJ,
|
||
Galindo MK,
|
||
Ropers FG,
|
||
Nibbeling EAR,
|
||
Hubbard G,
|
||
Karimov C,
|
||
Goj G,
|
||
Bend R,
|
||
Rath J,
|
||
Morrow MM,
|
||
Millan F,
|
||
Salpietro V,
|
||
Torella A,
|
||
Nigro V,
|
||
Kurki M,
|
||
Stevenson RE,
|
||
Santen GWE,
|
||
Zweier M,
|
||
Campeau PM,
|
||
Severino M,
|
||
Reis A,
|
||
Accogli A,
|
||
Vasileiou G</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2023 Nov;25(11):100950.
|
||
Epub 2023 Aug 5
|
||
doi: 10.1016/j.gim.2023.100950.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37551667" target="_blank">37551667</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/24580733">Myhre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Goff C,
|
||
Michot C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2014 Jun;85(6):503-13.
|
||
Epub 2014 Apr 2
|
||
doi: 10.1111/cge.12365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24580733" target="_blank">24580733</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=%22Neurodevelopmental%20disorder%20with%20dysmorphic%20facies%20and%20behavioral%20abnormalities%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 (158)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37043637">Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wright CF,
|
||
Campbell P,
|
||
Eberhardt RY,
|
||
Aitken S,
|
||
Perrett D,
|
||
Brent S,
|
||
Danecek P,
|
||
Gardner EJ,
|
||
Chundru VK,
|
||
Lindsay SJ,
|
||
Andrews K,
|
||
Hampstead J,
|
||
Kaplanis J,
|
||
Samocha KE,
|
||
Middleton A,
|
||
Foreman J,
|
||
Hobson RJ,
|
||
Parker MJ,
|
||
Martin HC,
|
||
FitzPatrick DR,
|
||
Hurles ME,
|
||
Firth HV;
|
||
DDD Study</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2023 Apr 27;388(17):1559-1571.
|
||
Epub 2023 Apr 12
|
||
doi: 10.1056/NEJMoa2209046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37043637" target="_blank">37043637</a><a href="/pmc/articles/PMC7614484" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32097528">ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yates TM,
|
||
Drucker M,
|
||
Barnicoat A,
|
||
Low K,
|
||
Gerkes EH,
|
||
Fry AE,
|
||
Parker MJ,
|
||
O'Driscoll M,
|
||
Charles P,
|
||
Cox H,
|
||
Marey I,
|
||
Keren B,
|
||
Rinne T,
|
||
McEntagart M,
|
||
Ramachandran V,
|
||
Drury S,
|
||
Vansenne F,
|
||
Sival DA,
|
||
Herkert JC,
|
||
Callewaert B,
|
||
Tan WH,
|
||
Balasubramanian M</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2020 May;41(5):1042-1050.
|
||
Epub 2020 Mar 5
|
||
doi: 10.1002/humu.24001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32097528" target="_blank">32097528</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/21349887">Silver-Russell syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wakeling EL</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2011 Dec;96(12):1156-61.
|
||
Epub 2011 Feb 24
|
||
doi: 10.1136/adc.2010.190165.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21349887" target="_blank">21349887</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10826617">The KBG syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smithson SF,
|
||
Thompson EM,
|
||
McKinnon AG,
|
||
Smith IS,
|
||
Winter RM</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2000 Apr;9(2):87-91.
|
||
doi: 10.1097/00019605-200009020-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10826617" target="_blank">10826617</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20dysmorphic%20facies%20and%20behavioral%20abnormalities%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 (274)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38557491">Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergamasco MI,
|
||
Vanyai HK,
|
||
Garnham AL,
|
||
Geoghegan ND,
|
||
Vogel AP,
|
||
Eccles S,
|
||
Rogers KL,
|
||
Smyth GK,
|
||
Blewitt ME,
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Steenbeek D,
|
||
Stegmann APA,
|
||
Stumpel CTRM,
|
||
Tanabe S,
|
||
Uctepe E,
|
||
Utine GE,
|
||
Veenstra-Knol HE,
|
||
Venkateswaran S,
|
||
Vilain C,
|
||
Vincent-Delorme C,
|
||
Vulto-van Silfhout AT,
|
||
Wheeler P,
|
||
Wilson GN,
|
||
Wilson LC,
|
||
Wollnik B,
|
||
Kosho T,
|
||
Wieczorek D,
|
||
Eichler E,
|
||
Pfundt R,
|
||
de Vries BBA,
|
||
Clayton-Smith J,
|
||
Santen GWE</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Jun;21(6):1295-1307.
|
||
Epub 2018 Nov 8
|
||
doi: 10.1038/s41436-018-0330-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30349098" target="_blank">30349098</a><a href="/pmc/articles/PMC6752273" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20dysmorphic%20facies%20and%20behavioral%20abnormalities%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 (155)</a></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38818797">Natural history of adults with KBG syndrome: A physician-reported experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bayat A,
|
||
Grimes H,
|
||
de Boer E,
|
||
Herlin MK,
|
||
Dahl RS,
|
||
Lund ICB,
|
||
Bayat M,
|
||
Bolund ACS,
|
||
Gjerulfsen CE,
|
||
Gregersen PA,
|
||
Zilmer M,
|
||
Juhl S,
|
||
Cebula K,
|
||
Rahikkala E,
|
||
Maystadt I,
|
||
Peron A,
|
||
Vignoli A,
|
||
Alfano RM,
|
||
Stanzial F,
|
||
Benedicenti F,
|
||
Currò A,
|
||
Luk HM,
|
||
Jouret G,
|
||
Zurita E,
|
||
Heuft L,
|
||
Schnabel F,
|
||
Busche A,
|
||
Veenstra-Knol HE,
|
||
Tkemaladze T,
|
||
Vrielynck P,
|
||
Lederer D,
|
||
Platzer K,
|
||
Ockeloen CW,
|
||
Goel H,
|
||
Low KJ</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2024 Aug;26(8):101170.
|
||
Epub 2024 May 27
|
||
doi: 10.1016/j.gim.2024.101170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38818797" target="_blank">38818797</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20dysmorphic%20facies%20and%20behavioral%20abnormalities%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 (1)</a></div></div>
|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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