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<meta name="keywords" content="C5436574, disease or syndrome, iddseld, intellectual developmental disorder with seizures and language delay, setd1b, setd1b-related neurodevelopmental disorder, 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="SETD1B-related neurodevelopmental disorder (SETD1B-NDD) is characterized by developmental delay (mainly affecting speech and language), intellectual disability, seizures, autism spectrum disorder or autism-like behaviors, and additional behavioral concerns. Speech delay and/or language disorder has been reported in most affected individuals. Delay in gross motor skills and mild-to-moderate intellectual disability are common. Most affected individuals have seizures with variable onset and seizure type. Behavioral issues including hyperactivity, aggression, anxiety, and sleep disorders have been reported in approximately half of individuals. Less common features include ophthalmologic manifestations and feeding issues." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1740295
|
||
ConceptID=C5436574
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual developmental disorder with seizures and language delay<span class="h1sub">(IDDSELD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1740295</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:">C5436574</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>IDDSELD</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="SETD1B - ID: 23067 - NCBI Gene" href="/gene/23067" class="medgenPMinfo">SETD1B</a> (12q24.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033559" target="_blank">MONDO:0033559</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619000" target="_blank">619000</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>
|
||
<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK584549" target="_blank">SETD1B-Related Neurodevelopmental Disorder</a></div><div>SETD1B-related neurodevelopmental disorder (SETD1B-NDD) is characterized by developmental delay (mainly affecting speech and language), intellectual disability, seizures, autism spectrum disorder or autism-like behaviors, and additional behavioral concerns. Speech delay and/or language disorder has been reported in most affected individuals. Delay in gross motor skills and mild-to-moderate intellectual disability are common. Most affected individuals have seizures with variable onset and seizure type. Behavioral issues including hyperactivity, aggression, anxiety, and sleep disorders have been reported in approximately half of individuals. Less common features include ophthalmologic manifestations and feeding issues. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK584549#setd1b-ndd.Summary" target="NBK584549">Summary</a> | <a class="medgenPMinfo" href="/books/NBK584549#setd1b-ndd.Diagnosis" target="NBK584549">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK584549#setd1b-ndd.Clinical_Characteristics" target="NBK584549">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK584549#setd1b-ndd.Genetically_Related_Allelic_D" target="NBK584549">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK584549#setd1b-ndd.Differential_Diagnosis" target="NBK584549">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK584549#setd1b-ndd.Management" target="NBK584549">Management</a> | <a class="medgenPMinfo" href="/books/NBK584549#setd1b-ndd.Genetic_Counseling" target="NBK584549">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK584549#setd1b-ndd.Resources" target="NBK584549">Resources</a> | <a class="medgenPMinfo" href="/books/NBK584549#setd1b-ndd.Molecular_Genetics" target="NBK584549">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK584549#setd1b-ndd.Chapter_Notes" target="NBK584549">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK584549#setd1b-ndd.References" target="NBK584549">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Alexandra Roston | William Gibson <a href="/books/NBK584549" target="NBK584549" title="NCBI Bookshelf: SETD1B-Related Neurodevelopmental Disorder">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Intellectual developmental disorder with seizures and language delay (IDDSELD) is characterized by global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life. Seizures tend to be myoclonic, although variable types have been reported. Many patients have accompanying behavioral abnormalities, most commonly autism spectrum disorder and anxiety. Additional features, such as facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed (summary by Roston et al., 2021). <a target="_blank" href="http://www.omim.org/entry/619000">http://www.omim.org/entry/619000</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_98098"><div><strong>Tapered finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98098</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.">C0426886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The gradual reduction in girth of the finger from proximal to distal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98098">Feature record</a> | <a href="/medgen?term=%22Tapered%20finger%22%5BClinical%20Features%5D%20OR%2098098%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1613"><div><strong>Anxiety</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613</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.">C0003467</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1613">Feature record</a> | <a href="/medgen?term=%22Anxiety%22%5BClinical%20Features%5D%20OR%201613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</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.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892508"><div><strong>Intellectual disability, profound</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892508</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.">C3161330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Profound mental retardation is defined as an intelligence quotient (IQ) below 20.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892508">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20profound%22%5BClinical%20Features%5D%20OR%20892508%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867392"><div><strong>EEG with polyspike wave complexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867392</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.">C4021757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of complexes of repetitive spikes and waves in EEG.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867392">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20polyspike%20wave%20complexes%22%5BClinical%20Features%5D%20OR%20867392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869094"><div><strong>Myoclonic absence seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869094</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.">C4023512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869094">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20absence%20seizure%22%5BClinical%20Features%5D%20OR%20869094%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869260"><div><strong>EEG with spike-wave complexes (2.5-3.5 Hz)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869260</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.">C4023685</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869260">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20spike-wave%20complexes%20(2.5-3.5%20Hz)%22%5BClinical%20Features%5D%20OR%20869260%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</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.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1617724"><div><strong>Increased theta frequency activity in EEG</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1617724</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.">C4531060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1617724">Feature record</a> | <a href="/medgen?term=%22Increased%20theta%20frequency%20activity%20in%20EEG%22%5BClinical%20Features%5D%20OR%201617724%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332439"><div><strong>Flat occiput</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332439</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.">C1837402</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced convexity of the occiput (posterior part of skull).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332439">Feature record</a> | <a href="/medgen?term=%22Flat%20occiput%22%5BClinical%20Features%5D%20OR%20332439%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</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.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_371253"><div><strong>Square face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371253</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.">C1832127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371253">Feature record</a> | <a href="/medgen?term=%22Square%20face%22%5BClinical%20Features%5D%20OR%20371253%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326567"><div><strong>Thick lower lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326567</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.">C1839739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326567">Feature record</a> | <a href="/medgen?term=%22Thick%20lower%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20326567%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377914"><div><strong>Thick eyebrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377914</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.">C1853487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased density/number and/or increased diameter of eyebrow hairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377914">Feature record</a> | <a href="/medgen?term=%22Thick%20eyebrow%22%5BClinical%20Features%5D%20OR%20377914%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355661"><div><strong>Full cheeks</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355661</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.">C1866231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased prominence or roundness of soft tissues between zygomata and mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355661">Feature record</a> | <a href="/medgen?term=%22Full%20cheeks%22%5BClinical%20Features%5D%20OR%20355661%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Full cheeks</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_371253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Square face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick eyebrow</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick lower lip vermilion</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tapered finger</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flat occiput</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anxiety</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with polyspike wave complexes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with spike-wave complexes (2.5-3.5 Hz)</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1617724" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased theta frequency activity in EEG</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, profound</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic absence seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li></ul></li></ul></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/37465909">Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ream MA,
|
||
Lam WKK,
|
||
Grosse SD,
|
||
Ojodu J,
|
||
Jones E,
|
||
Prosser LA,
|
||
Rose AM,
|
||
Comeau AM,
|
||
Tanksley S,
|
||
Powell CM,
|
||
Kemper AR</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2023 Aug 1;152(2)
|
||
doi: 10.1542/peds.2023-062100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37465909" target="_blank">37465909</a><a href="/pmc/articles/PMC10527896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37183190">Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Onofrio G,
|
||
Accogli A,
|
||
Severino M,
|
||
Caliskan H,
|
||
Kokotović T,
|
||
Blazekovic A,
|
||
Jercic KG,
|
||
Markovic S,
|
||
Zigman T,
|
||
Goran K,
|
||
Barišić N,
|
||
Duranovic V,
|
||
Ban A,
|
||
Borovecki F,
|
||
Ramadža DP,
|
||
Barić I,
|
||
Fazeli W,
|
||
Herkenrath P,
|
||
Marini C,
|
||
Vittorini R,
|
||
Gowda V,
|
||
Bouman A,
|
||
Rocca C,
|
||
Alkhawaja IA,
|
||
Murtaza BN,
|
||
Rehman MMU,
|
||
Al Alam C,
|
||
Nader G,
|
||
Mancardi MM,
|
||
Giacomini T,
|
||
Srivastava S,
|
||
Alvi JR,
|
||
Tomoum H,
|
||
Matricardi S,
|
||
Iacomino M,
|
||
Riva A,
|
||
Scala M,
|
||
Madia F,
|
||
Pistorio A,
|
||
Salpietro V,
|
||
Minetti C,
|
||
Rivière JB,
|
||
Srour M,
|
||
Efthymiou S,
|
||
Maroofian R,
|
||
Houlden H,
|
||
Vernes SC,
|
||
Zara F,
|
||
Striano P,
|
||
Nagy V</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2023 Jul;142(7):909-925.
|
||
Epub 2023 May 14
|
||
doi: 10.1007/s00439-023-02552-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37183190" target="_blank">37183190</a><a href="/pmc/articles/PMC10329570" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23450537">Treatment of Lennox-Gastaut syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hancock EC,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Feb 28;2013(2):CD003277.
|
||
doi: 10.1002/14651858.CD003277.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23450537" target="_blank">23450537</a><a href="/pmc/articles/PMC7144815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20developmental%20disorder%20with%20seizures%20and%20language%20delay)%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 (19)</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/36194365">Psychobehavioural and Cognitive Adverse Events of Anti-Seizure Medications for the Treatment of Developmental and Epileptic Encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
|
||
Schubert-Bast S</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2022 Oct;36(10):1079-1111.
|
||
Epub 2022 Oct 4
|
||
doi: 10.1007/s40263-022-00955-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36194365" target="_blank">36194365</a><a href="/pmc/articles/PMC9531646" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33944996">Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parenti I,
|
||
Lehalle D,
|
||
Nava C,
|
||
Torti E,
|
||
Leitão E,
|
||
Person R,
|
||
Mizuguchi T,
|
||
Matsumoto N,
|
||
Kato M,
|
||
Nakamura K,
|
||
de Man SA,
|
||
Cope H,
|
||
Shashi V;
|
||
Undiagnosed Diseases Network,
|
||
Friedman J,
|
||
Joset P,
|
||
Steindl K,
|
||
Rauch A,
|
||
Muffels I,
|
||
van Hasselt PM,
|
||
Petit F,
|
||
Smol T,
|
||
Le Guyader G,
|
||
Bilan F,
|
||
Sorlin A,
|
||
Vitobello A,
|
||
Philippe C,
|
||
van de Laar IMBH,
|
||
van Slegtenhorst MA,
|
||
Campeau PM,
|
||
Au PYB,
|
||
Nakashima M,
|
||
Saitsu H,
|
||
Yamamoto T,
|
||
Nomura Y,
|
||
Louie RJ,
|
||
Lyons MJ,
|
||
Dobson A,
|
||
Plomp AS,
|
||
Motazacker MM,
|
||
Kaiser FJ,
|
||
Timberlake AT,
|
||
Fuchs SA,
|
||
Depienne C,
|
||
Mignot C</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2021 Jul;140(7):1109-1120.
|
||
Epub 2021 May 4
|
||
doi: 10.1007/s00439-021-02283-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33944996" target="_blank">33944996</a><a href="/pmc/articles/PMC8197709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33232677">Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duncan AR,
|
||
Vitobello A,
|
||
Collins SC,
|
||
Vancollie VE,
|
||
Lelliott CJ,
|
||
Rodan L,
|
||
Shi J,
|
||
Seman AR,
|
||
Agolini E,
|
||
Novelli A,
|
||
Prontera P,
|
||
Guillen Sacoto MJ,
|
||
Santiago-Sim T,
|
||
Trimouille A,
|
||
Goizet C,
|
||
Nizon M,
|
||
Bruel AL,
|
||
Philippe C,
|
||
Grant PE,
|
||
Wojcik MH,
|
||
Stoler J,
|
||
Genetti CA,
|
||
van Dooren MF,
|
||
Maas SM,
|
||
Alders M,
|
||
Faivre L,
|
||
Sorlin A,
|
||
Yoon G,
|
||
Yalcin B,
|
||
Agrawal PB</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2020 Dec 3;107(6):1170-1177.
|
||
Epub 2020 Nov 23
|
||
doi: 10.1016/j.ajhg.2020.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33232677" target="_blank">33232677</a><a href="/pmc/articles/PMC7820620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30031152">NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Shehhi M,
|
||
Forman EB,
|
||
Fitzgerald JE,
|
||
McInerney V,
|
||
Krawczyk J,
|
||
Shen S,
|
||
Betts DR,
|
||
Ardle LM,
|
||
Gorman KM,
|
||
King MD,
|
||
Green A,
|
||
Gallagher L,
|
||
Lynch SA</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2019 Mar;62(3):204-209.
|
||
Epub 2018 Jul 18
|
||
doi: 10.1016/j.ejmg.2018.07.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30031152" target="_blank">30031152</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25689425">The 15q11.2 BP1-BP2 microdeletion syndrome: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox DM,
|
||
Butler MG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2015 Feb 13;16(2):4068-82.
|
||
doi: 10.3390/ijms16024068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25689425" target="_blank">25689425</a><a href="/pmc/articles/PMC4346944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%20with%20seizures%20and%20language%20delay%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 (74)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37407264">Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thalwitzer KM,
|
||
Driedger JH,
|
||
Xian J,
|
||
Saffari A,
|
||
Zacher P,
|
||
Bölsterli BK,
|
||
Ruggiero SM,
|
||
Sullivan KR,
|
||
Datta AN,
|
||
Kellinghaus C,
|
||
Althaus J,
|
||
Wiemer-Kruel A,
|
||
van Baalen A,
|
||
Pampel A,
|
||
Alber M,
|
||
Braakman HMH,
|
||
Debus OM,
|
||
Denecke J,
|
||
Hobbiebrunken E,
|
||
Breitweg I,
|
||
Diehl D,
|
||
Eitel H,
|
||
Gburek-Augustat J,
|
||
Preisel M,
|
||
Schlump JU,
|
||
Laufs M,
|
||
Mammadova D,
|
||
Wurst C,
|
||
Prager C,
|
||
Löhr-Nilles C,
|
||
Martin P,
|
||
Garbade SF,
|
||
Platzer K,
|
||
Benkel-Herrenbrueck I,
|
||
Egler K,
|
||
Fazeli W,
|
||
Lemke JR,
|
||
Runkel E,
|
||
Klein B,
|
||
Linden T,
|
||
Schröter J,
|
||
Steffeck H,
|
||
Thies B,
|
||
von Deimling F,
|
||
Illsinger S,
|
||
Borggraefe I,
|
||
Classen G,
|
||
Wieczorek D,
|
||
Ramantani G,
|
||
Koelker S,
|
||
Hoffmann GF,
|
||
Ries M,
|
||
Helbig I,
|
||
Syrbe S</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Aug 29;101(9):e879-e891.
|
||
Epub 2023 Jul 5
|
||
doi: 10.1212/WNL.0000000000207550.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37407264" target="_blank">37407264</a><a href="/pmc/articles/PMC10501093" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34345025">Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weerts MJA,
|
||
Lanko K,
|
||
Guzmán-Vega FJ,
|
||
Jackson A,
|
||
Ramakrishnan R,
|
||
Cardona-Londoño KJ,
|
||
Peña-Guerra KA,
|
||
van Bever Y,
|
||
van Paassen BW,
|
||
Kievit A,
|
||
van Slegtenhorst M,
|
||
Allen NM,
|
||
Kehoe CM,
|
||
Robinson HK,
|
||
Pang L,
|
||
Banu SH,
|
||
Zaman M,
|
||
Efthymiou S,
|
||
Houlden H,
|
||
Järvelä I,
|
||
Lauronen L,
|
||
Määttä T,
|
||
Schrauwen I,
|
||
Leal SM,
|
||
Ruivenkamp CAL,
|
||
Barge-Schaapveld DQCM,
|
||
Peeters-Scholte CMPCD,
|
||
Galehdari H,
|
||
Mazaheri N,
|
||
Sisodiya SM,
|
||
Harrison V,
|
||
Sun A,
|
||
Thies J,
|
||
Pedroza LA,
|
||
Lara-Taranchenko Y,
|
||
Chinn IK,
|
||
Lupski JR,
|
||
Garza-Flores A,
|
||
McGlothlin J,
|
||
Yang L,
|
||
Huang S,
|
||
Wang X,
|
||
Jewett T,
|
||
Rosso G,
|
||
Lin X,
|
||
Mohammed S,
|
||
Merritt JL 2nd,
|
||
Mirzaa GM,
|
||
Timms AE,
|
||
Scheck J,
|
||
Elting MW,
|
||
Polstra AM,
|
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Schenck L,
|
||
Ruzhnikov MRZ,
|
||
Vetro A,
|
||
Montomoli M,
|
||
Guerrini R,
|
||
Koboldt DC,
|
||
Mosher TM,
|
||
Pastore MT,
|
||
McBride KL,
|
||
Peng J,
|
||
Pan Z,
|
||
Willemsen M,
|
||
Koning S,
|
||
Turnpenny PD,
|
||
de Vries BBA,
|
||
Gilissen C,
|
||
Pfundt R,
|
||
Lees M,
|
||
Braddock SR,
|
||
Klemp KC,
|
||
Vansenne F,
|
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van Gijn ME,
|
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Quindipan C,
|
||
Deardorff MA,
|
||
Hamm JA,
|
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Putnam AM,
|
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Baud R,
|
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Walsh L,
|
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Lynch SA,
|
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Baptista J,
|
||
Person RE,
|
||
Monaghan KG,
|
||
Crunk A,
|
||
Keller-Ramey J,
|
||
Reich A,
|
||
Elloumi HZ,
|
||
Alders M,
|
||
Kerkhof J,
|
||
McConkey H,
|
||
Haghshenas S;
|
||
Genomics England Research Consortium,
|
||
Maroofian R,
|
||
Sadikovic B,
|
||
Banka S,
|
||
Arold ST,
|
||
Barakat TS</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Nov;23(11):2122-2137.
|
||
Epub 2021 Aug 3
|
||
doi: 10.1038/s41436-021-01246-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34345025" target="_blank">34345025</a><a href="/pmc/articles/PMC8553606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34211179">Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cousin MA,
|
||
Creighton BA,
|
||
Breau KA,
|
||
Spillmann RC,
|
||
Torti E,
|
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Dontu S,
|
||
Tripathi S,
|
||
Ajit D,
|
||
Edwards RJ,
|
||
Afriyie S,
|
||
Bay JC,
|
||
Harper KM,
|
||
Beltran AA,
|
||
Munoz LJ,
|
||
Falcon Rodriguez L,
|
||
Stankewich MC,
|
||
Person RE,
|
||
Si Y,
|
||
Normand EA,
|
||
Blevins A,
|
||
May AS,
|
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Bier L,
|
||
Aggarwal V,
|
||
Mancini GMS,
|
||
van Slegtenhorst MA,
|
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Cremer K,
|
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Becker J,
|
||
Engels H,
|
||
Aretz S,
|
||
MacKenzie JJ,
|
||
Brilstra E,
|
||
van Gassen KLI,
|
||
van Jaarsveld RH,
|
||
Oegema R,
|
||
Parsons GM,
|
||
Mark P,
|
||
Helbig I,
|
||
McKeown SE,
|
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Stratton R,
|
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Cogne B,
|
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Isidor B,
|
||
Cacheiro P,
|
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Smedley D,
|
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Firth HV,
|
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Bierhals T,
|
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Kloth K,
|
||
Weiss D,
|
||
Fairley C,
|
||
Shieh JT,
|
||
Kritzer A,
|
||
Jayakar P,
|
||
Kurtz-Nelson E,
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<div class="nl"><a target="_blank" href="/pubmed/25689425">The 15q11.2 BP1-BP2 microdeletion syndrome: a review.</a></div>
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Salimbene L,
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Pietrafusa N,
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Trivisano M,
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Marras CE,
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De Benedictis A,
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Chiarello D,
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Mercier M,
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Pepi C,
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de Palma L,
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Specchio N</span><br />
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2024 Aug;157:109846.
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Epub 2024 May 30
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<span class="bold">PMID: </span><a href="/pubmed/38820683" target="_blank">38820683</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38444259">Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/28814537">Public Health Literature Review of Fragile X Syndrome.</a></div>
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2017 Jun;139(Suppl 3):S153-S171.
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<span class="bold">PMID: </span><a href="/pubmed/28814537" target="_blank">28814537</a><a href="/pmc/articles/PMC5621610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23450537">Treatment of Lennox-Gastaut syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hancock EC,
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Cross JH</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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<span class="bold">PMID: </span><a href="/pubmed/23450537" target="_blank">23450537</a><a href="/pmc/articles/PMC7144815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/intellectual_developmental_disorder_with_seizures_and_language_delay" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Intellectual%20developmental%20disorder%20with%20seizures%20and%20language%20delay" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18527/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb54aea68b6b5afc81670e">Intellectual developmental disorder with seizures and language delay</a>
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