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<meta name="keywords" content="C5394083, disease or syndrome, dlg4, intellectual developmental disorder 62, intellectual developmental disorder, autosomal dominant 62, mental retardation, autosomal dominant 62, mrd62, 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="DLG4-related synaptopathy is characterized by developmental delay, intellectual disability (most commonly in the mild-to-moderate range), and autism spectrum disorder. About half of affected individuals have epilepsy. Regression in motor development and/or language has been reported in about 40% of affected individuals. Other neurologic findings can include hypotonia, movement disorder (most commonly stereotypies and ataxia), dystonia, tremor, and migraine headaches. Sleep disturbance is common, with sleep onset and/or sleep maintenance difficulties being frequently reported. Strabismus is the most common ocular finding followed by hyperopia, nystagmus, and cortical blindness. Vomiting is observed in a number of individuals and can be triggered by seizures, motion sickness, or fatigue. Joint laxity is a relatively common finding (36.9%), and scoliosis is noted in 20% of individuals." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1712636
|
||
ConceptID=C5394083
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual developmental disorder 62<span class="h1sub">(MRD62)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1712636</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:">C5394083</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>INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MENTAL RETARDATION, AUTOSOMAL DOMINANT 62</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="DLG4 - ID: 1742 - NCBI Gene" href="/gene/1742" class="medgenPMinfo">DLG4</a> (17p13.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032919" target="_blank">MONDO:0032919</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618793" target="_blank">618793</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_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/NBK592682" target="_blank">DLG4-Related Synaptopathy</a></div><div>DLG4-related synaptopathy is characterized by developmental delay, intellectual disability (most commonly in the mild-to-moderate range), and autism spectrum disorder. About half of affected individuals have epilepsy. Regression in motor development and/or language has been reported in about 40% of affected individuals. Other neurologic findings can include hypotonia, movement disorder (most commonly stereotypies and ataxia), dystonia, tremor, and migraine headaches. Sleep disturbance is common, with sleep onset and/or sleep maintenance difficulties being frequently reported. Strabismus is the most common ocular finding followed by hyperopia, nystagmus, and cortical blindness. Vomiting is observed in a number of individuals and can be triggered by seizures, motion sickness, or fatigue. Joint laxity is a relatively common finding (36.9%), and scoliosis is noted in 20% of individuals. [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/NBK592682#dlg4-synap.Summary" target="NBK592682">Summary</a> | <a class="medgenPMinfo" href="/books/NBK592682#dlg4-synap.Diagnosis" target="NBK592682">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK592682#dlg4-synap.Clinical_Characteristics" target="NBK592682">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK592682#dlg4-synap.Genetically_Related_Allelic_D" target="NBK592682">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK592682#dlg4-synap.Differential_Diagnosis" target="NBK592682">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK592682#dlg4-synap.Management" target="NBK592682">Management</a> | <a class="medgenPMinfo" href="/books/NBK592682#dlg4-synap.Genetic_Counseling" target="NBK592682">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK592682#dlg4-synap.Resources" target="NBK592682">Resources</a> | <a class="medgenPMinfo" href="/books/NBK592682#dlg4-synap.Molecular_Genetics" target="NBK592682">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK592682#dlg4-synap.Chapter_Notes" target="NBK592682">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK592682#dlg4-synap.References" target="NBK592682">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Zeynep Tümer | Thomas J Dye | Carlos Prada<i>, et. al.</i> <a href="/books/NBK592682" target="NBK592682" title="NCBI Bookshelf: DLG4-Related Synaptopathy">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 MedlinePlus Genetics</strong><br />DLG4-related synaptopathy is a condition that affects neurological development. This condition is characterized by delayed development and mild to moderate intellectual disabilities that typically becomes evident before age 2. Over time, many individuals with DLG4-related synaptopathy lose skills that they have learned, such as speech or motor skills. About 20 percent of people with this condition cannot speak. Affected individuals often have neurodevelopmental disorders, such as autism spectrum disorder or attention-deficit/hyperactivity disorder. About half of individuals with this condition have recurrent seizures (epilepsy) that typically begin in childhood. Brain changes can also occur. These include brain tissue loss (atrophy) and abnormalities of the tissue connecting the left and right halves of the brain (corpus callosum) or the hippocampus, which is a region of the brain that is involved in learning and memory.<br /><br />Individuals with DLG4-related synaptopathy can also have weak muscle tone (hyptonia), loose joints (joint laxity), or a spine that curves to the side (scoliosis). Movement problems, including impaired muscle coordination (ataxia), involuntary muscle coordination (dystonia), or rhythmic shaking (tremor) are common in people with this condition. Other problems can include migraine, sleep problems, or anxiety. Some people with DLG4-related synaptopathy have a distinctive body type that includes a long face, slim body, and long fingers.<br /><br />Less commonly, DLG4-related synaptopathy can affect a person's vision. Affected individuals can have eyes that do not point in the same direction (strabismus), farsightedness (hyperopia), or involuntary movements of the eyes (nystagmus). Some affected individuals have blindness because the area of the brain responsible for processing vision is impaired. <br /><br />DLG4-related synaptopathy can also cause gastrointestinal difficulties that make it difficult to eat. These can include a backflow of stomach acids into the esophagus (gastroesophageal reflux disease or GERD).<br /><br /> <a target="_blank" href="https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy">https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy</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_2047"><div><strong>Arachnodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2047</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.">C0003706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally long and slender fingers (spider fingers).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2047">Feature record</a> | <a href="/medgen?term=%22Arachnodactyly%22%5BClinical%20Features%5D%20OR%202047%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42034"><div><strong>Pes planus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42034</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.">C0016202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42034">Feature record</a> | <a href="/medgen?term=%22Pes%20planus%22%5BClinical%20Features%5D%20OR%2042034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868335"><div><strong>Increased arm span</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868335</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.">C4022729</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868335">Feature record</a> | <a href="/medgen?term=%22Increased%20arm%20span%22%5BClinical%20Features%5D%20OR%20868335%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323048"><div><strong>Disproportionate tall stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323048</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.">C1836996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323048">Feature record</a> | <a href="/medgen?term=%22Disproportionate%20tall%20stature%22%5BClinical%20Features%5D%20OR%20323048%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_149271"><div><strong>Cerebellar vermis atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>149271</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.">C0742028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wasting (atrophy) of the vermis of cerebellum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/149271">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20vermis%20atrophy%22%5BClinical%20Features%5D%20OR%20149271%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_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57541"><div><strong>Striae distensae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57541</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.">C0152459</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Striae%20distensae%22%5BClinical%20Features%5D%20OR%2057541%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arachnodactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased arm span</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes planus</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Striae distensae</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_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</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_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_149271" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar vermis atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Disproportionate tall stature</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/36833393">Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gavril EC,
|
||
Nucă I,
|
||
Pânzaru MC,
|
||
Ivanov AV,
|
||
Mihai CT,
|
||
Antoci LM,
|
||
Ciobanu CG,
|
||
Rusu C,
|
||
Popescu R</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Feb 11;14(2)
|
||
doi: 10.3390/genes14020465.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36833393" target="_blank">36833393</a><a href="/pmc/articles/PMC9957522" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36446582">Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Cayuelas E,
|
||
Blanco-Kelly F,
|
||
Lopez-Grondona F,
|
||
Swafiri ST,
|
||
Lopez-Rodriguez R,
|
||
Losada-Del Pozo R,
|
||
Mahillo-Fernandez I,
|
||
Moreno B,
|
||
Rodrigo-Moreno M,
|
||
Casas-Alba D,
|
||
Lopez-Gonzalez A,
|
||
García-Miñaúr S,
|
||
Ángeles Mori M,
|
||
Pacio-Minguez M,
|
||
Rikeros-Orozco E,
|
||
Santos-Simarro F,
|
||
Cruz-Rojo J,
|
||
Quesada-Espinosa JF,
|
||
Sanchez-Calvin MT,
|
||
Sanchez-Del Pozo J,
|
||
Bernado Fonz R,
|
||
Isidoro-Garcia M,
|
||
Ruiz-Ayucar I,
|
||
Alvarez-Mora MI,
|
||
Blanco-Lago R,
|
||
De Azua B,
|
||
Eiris J,
|
||
Garcia-Peñas JJ,
|
||
Gil-Fournier B,
|
||
Gomez-Lado C,
|
||
Irazabal N,
|
||
Lopez-Gonzalez V,
|
||
Madrigal I,
|
||
Malaga I,
|
||
Martinez-Menendez B,
|
||
Ramiro-Leon S,
|
||
Garcia-Hoyos M,
|
||
Prieto-Matos P,
|
||
Lopez-Pison J,
|
||
Aguilera-Albesa S,
|
||
Alvarez S,
|
||
Fernández-Jaén A,
|
||
Llano-Rivas I,
|
||
Gener-Querol B,
|
||
Ayuso C,
|
||
Arteche-Lopez A,
|
||
Palomares-Bralo M,
|
||
Cueto-González A,
|
||
Valenzuela I,
|
||
Martinez-Monseny A,
|
||
Lorda-Sanchez I,
|
||
Almoguera B</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Jul;60(7):644-654.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1136/jmg-2022-108632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36446582" target="_blank">36446582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573342">Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanchez-Jimeno C,
|
||
Blanco-Kelly F,
|
||
López-Grondona F,
|
||
Losada-Del Pozo R,
|
||
Moreno B,
|
||
Rodrigo-Moreno M,
|
||
Martinez-Cayuelas E,
|
||
Riveiro-Alvarez R,
|
||
Fenollar-Cortés M,
|
||
Ayuso C,
|
||
Rodríguez de Alba M,
|
||
Lorda-Sanchez I,
|
||
Almoguera B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 30;12(9)
|
||
doi: 10.3390/genes12091360.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573342" target="_blank">34573342</a><a href="/pmc/articles/PMC8471078" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20developmental%20disorder%2062)%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 (119)</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/37994063">Interhemispheric Communication in Down Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piccirilli M,
|
||
D'Alessandro P,
|
||
Elisei S</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Danub</span>
|
||
2023 Dec;35(Suppl 3):62-65.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37994063" target="_blank">37994063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33200426">Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Song D,
|
||
Dai Y,
|
||
Chen X,
|
||
Fu X,
|
||
Chang X,
|
||
Wang N,
|
||
Zhang C,
|
||
Yan C,
|
||
Zheng H,
|
||
Wu L,
|
||
Jiang L,
|
||
Hua Y,
|
||
Yang H,
|
||
Wang Z,
|
||
Dai T,
|
||
Zhu W,
|
||
Han C,
|
||
Yuan Y,
|
||
Kobayashi K,
|
||
Toda T,
|
||
Xiong H</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Mar;99(3):384-395.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1111/cge.13886.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33200426" target="_blank">33200426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32010976">Cognitive functioning in children with cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stadskleiv K</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2020 Mar;62(3):283-289.
|
||
Epub 2020 Jan 9
|
||
doi: 10.1111/dmcn.14463.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32010976" target="_blank">32010976</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/24896178">Genome sequencing identifies major causes of severe intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilissen C,
|
||
Hehir-Kwa JY,
|
||
Thung DT,
|
||
van de Vorst M,
|
||
van Bon BW,
|
||
Willemsen MH,
|
||
Kwint M,
|
||
Janssen IM,
|
||
Hoischen A,
|
||
Schenck A,
|
||
Leach R,
|
||
Klein R,
|
||
Tearle R,
|
||
Bo T,
|
||
Pfundt R,
|
||
Yntema HG,
|
||
de Vries BB,
|
||
Kleefstra T,
|
||
Brunner HG,
|
||
Vissers LE,
|
||
Veltman JA</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2014 Jul 17;511(7509):344-7.
|
||
Epub 2014 Jun 4
|
||
doi: 10.1038/nature13394.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24896178" target="_blank">24896178</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2062%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 (1152)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37994063">Interhemispheric Communication in Down Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piccirilli M,
|
||
D'Alessandro P,
|
||
Elisei S</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Danub</span>
|
||
2023 Dec;35(Suppl 3):62-65.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37994063" target="_blank">37994063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36833393">Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gavril EC,
|
||
Nucă I,
|
||
Pânzaru MC,
|
||
Ivanov AV,
|
||
Mihai CT,
|
||
Antoci LM,
|
||
Ciobanu CG,
|
||
Rusu C,
|
||
Popescu R</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Feb 11;14(2)
|
||
doi: 10.3390/genes14020465.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36833393" target="_blank">36833393</a><a href="/pmc/articles/PMC9957522" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34041744">CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ernst ME,
|
||
Baugh EH,
|
||
Thomas A,
|
||
Bier L,
|
||
Lippa N,
|
||
Stong N,
|
||
Mulhern MS,
|
||
Kushary S,
|
||
Akman CI,
|
||
Heinzen EL,
|
||
Yeh R,
|
||
Bi W,
|
||
Hanchard NA,
|
||
Burrage LC,
|
||
Leduc MS,
|
||
Chong JSC,
|
||
Bend R,
|
||
Lyons MJ,
|
||
Lee JA,
|
||
Suwannarat P,
|
||
Brilstra E,
|
||
Simon M,
|
||
Koopmans M,
|
||
van Binsbergen E,
|
||
Groepper D,
|
||
Fleischer J,
|
||
Nava C,
|
||
Keren B,
|
||
Mignot C,
|
||
Mathieu S,
|
||
Mancini GMS,
|
||
Madan-Khetarpal S,
|
||
Infante EM,
|
||
Bluvstein J,
|
||
Seeley A,
|
||
Bachman K,
|
||
Klee EW,
|
||
Schultz-Rogers LE,
|
||
Hasadsri L,
|
||
Barnett S,
|
||
Ellingson MS,
|
||
Ferber MJ,
|
||
Narayanan V,
|
||
Ramsey K,
|
||
Rauch A,
|
||
Joset P,
|
||
Steindl K,
|
||
Sheehan T,
|
||
Poduri A,
|
||
Vasquez A,
|
||
Ruivenkamp C,
|
||
White SM,
|
||
Pais L,
|
||
Monaghan KG,
|
||
Goldstein DB,
|
||
Sands TT,
|
||
Aggarwal V</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jul;62(7):e103-e109.
|
||
Epub 2021 May 26
|
||
doi: 10.1111/epi.16931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34041744" target="_blank">34041744</a><a href="/pmc/articles/PMC9189716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33200402">Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefanski A,
|
||
Calle-López Y,
|
||
Leu C,
|
||
Pérez-Palma E,
|
||
Pestana-Knight E,
|
||
Lal D</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):143-151.
|
||
Epub 2020 Nov 17
|
||
doi: 10.1111/epi.16755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33200402" target="_blank">33200402</a><a href="/pmc/articles/PMC7839709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26022164">Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalsner L,
|
||
Chamberlain SJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2015 Jun;62(3):587-606.
|
||
Epub 2015 Apr 22
|
||
doi: 10.1016/j.pcl.2015.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26022164" target="_blank">26022164</a><a href="/pmc/articles/PMC4449422" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2062%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 (928)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36971690">Methylphenidate for children and adolescents with attention deficit hyperactivity disorder (ADHD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Storebø OJ,
|
||
Storm MRO,
|
||
Pereira Ribeiro J,
|
||
Skoog M,
|
||
Groth C,
|
||
Callesen HE,
|
||
Schaug JP,
|
||
Darling Rasmussen P,
|
||
Huus CL,
|
||
Zwi M,
|
||
Kirubakaran R,
|
||
Simonsen E,
|
||
Gluud C</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2023 Mar 27;3(3):CD009885.
|
||
doi: 10.1002/14651858.CD009885.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36971690" target="_blank">36971690</a><a href="/pmc/articles/PMC10042435" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33200402">Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefanski A,
|
||
Calle-López Y,
|
||
Leu C,
|
||
Pérez-Palma E,
|
||
Pestana-Knight E,
|
||
Lal D</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):143-151.
|
||
Epub 2020 Nov 17
|
||
doi: 10.1111/epi.16755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33200402" target="_blank">33200402</a><a href="/pmc/articles/PMC7839709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30541864">SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlaskamp DRM,
|
||
Shaw BJ,
|
||
Burgess R,
|
||
Mei D,
|
||
Montomoli M,
|
||
Xie H,
|
||
Myers CT,
|
||
Bennett MF,
|
||
XiangWei W,
|
||
Williams D,
|
||
Maas SM,
|
||
Brooks AS,
|
||
Mancini GMS,
|
||
van de Laar IMBH,
|
||
van Hagen JM,
|
||
Ware TL,
|
||
Webster RI,
|
||
Malone S,
|
||
Berkovic SF,
|
||
Kalnins RM,
|
||
Sicca F,
|
||
Korenke GC,
|
||
van Ravenswaaij-Arts CMA,
|
||
Hildebrand MS,
|
||
Mefford HC,
|
||
Jiang Y,
|
||
Guerrini R,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Jan 8;92(2):e96-e107.
|
||
Epub 2018 Dec 12
|
||
doi: 10.1212/WNL.0000000000006729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30541864" target="_blank">30541864</a><a href="/pmc/articles/PMC6340340" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23828258">A review of factors influencing the incidence and severity of plaque-induced gingivitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trombelli L,
|
||
Farina R</span><br />
|
||
<span class="medgenPMjournal">Minerva Stomatol</span>
|
||
2013 Jun;62(6):207-34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23828258" target="_blank">23828258</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%20developmental%20disorder%2062%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 (316)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36552808">A Targeted Epigenetic Clock for the Prediction of Biological Age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gensous N,
|
||
Sala C,
|
||
Pirazzini C,
|
||
Ravaioli F,
|
||
Milazzo M,
|
||
Kwiatkowska KM,
|
||
Marasco E,
|
||
De Fanti S,
|
||
Giuliani C,
|
||
Pellegrini C,
|
||
Santoro A,
|
||
Capri M,
|
||
Salvioli S,
|
||
Monti D,
|
||
Castellani G,
|
||
Franceschi C,
|
||
Bacalini MG,
|
||
Garagnani P</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 Dec 14;11(24)
|
||
doi: 10.3390/cells11244044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36552808" target="_blank">36552808</a><a href="/pmc/articles/PMC9777448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27548438">Scoliosis in Down's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abousamra O,
|
||
Duque Orozco MDP,
|
||
Er MS,
|
||
Rogers KJ,
|
||
Sees JP,
|
||
Miller F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2017 Jul;26(4):383-387.
|
||
doi: 10.1097/BPB.0000000000000378.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27548438" target="_blank">27548438</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25836705">Common genetic and epigenetic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams DJ,
|
||
Clark DA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2015 Apr;62(2):411-26.
|
||
Epub 2015 Jan 22
|
||
doi: 10.1016/j.pcl.2014.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25836705" target="_blank">25836705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25830321">Cell-free DNA analysis for noninvasive examination of trisomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Norton ME,
|
||
Jacobsson B,
|
||
Swamy GK,
|
||
Laurent LC,
|
||
Ranzini AC,
|
||
Brar H,
|
||
Tomlinson MW,
|
||
Pereira L,
|
||
Spitz JL,
|
||
Hollemon D,
|
||
Cuckle H,
|
||
Musci TJ,
|
||
Wapner RJ</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2015 Apr 23;372(17):1589-97.
|
||
Epub 2015 Apr 1
|
||
doi: 10.1056/NEJMoa1407349.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25830321" target="_blank">25830321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23828258">A review of factors influencing the incidence and severity of plaque-induced gingivitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trombelli L,
|
||
Farina R</span><br />
|
||
<span class="medgenPMjournal">Minerva Stomatol</span>
|
||
2013 Jun;62(6):207-34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23828258" target="_blank">23828258</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2062%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 (489)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36833393">Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gavril EC,
|
||
Nucă I,
|
||
Pânzaru MC,
|
||
Ivanov AV,
|
||
Mihai CT,
|
||
Antoci LM,
|
||
Ciobanu CG,
|
||
Rusu C,
|
||
Popescu R</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Feb 11;14(2)
|
||
doi: 10.3390/genes14020465.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36833393" target="_blank">36833393</a><a href="/pmc/articles/PMC9957522" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36446582">Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Cayuelas E,
|
||
Blanco-Kelly F,
|
||
Lopez-Grondona F,
|
||
Swafiri ST,
|
||
Lopez-Rodriguez R,
|
||
Losada-Del Pozo R,
|
||
Mahillo-Fernandez I,
|
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Moreno B,
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Rodrigo-Moreno M,
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Casas-Alba D,
|
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Lopez-Gonzalez A,
|
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García-Miñaúr S,
|
||
Ángeles Mori M,
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Pacio-Minguez M,
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Rikeros-Orozco E,
|
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Santos-Simarro F,
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Cruz-Rojo J,
|
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Quesada-Espinosa JF,
|
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Sanchez-Calvin MT,
|
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Sanchez-Del Pozo J,
|
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Bernado Fonz R,
|
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Isidoro-Garcia M,
|
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Ruiz-Ayucar I,
|
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Alvarez-Mora MI,
|
||
Blanco-Lago R,
|
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De Azua B,
|
||
Eiris J,
|
||
Garcia-Peñas JJ,
|
||
Gil-Fournier B,
|
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Gomez-Lado C,
|
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Irazabal N,
|
||
Lopez-Gonzalez V,
|
||
Madrigal I,
|
||
Malaga I,
|
||
Martinez-Menendez B,
|
||
Ramiro-Leon S,
|
||
Garcia-Hoyos M,
|
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Prieto-Matos P,
|
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Lopez-Pison J,
|
||
Aguilera-Albesa S,
|
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Alvarez S,
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Fernández-Jaén A,
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Llano-Rivas I,
|
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Gener-Querol B,
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||
Ayuso C,
|
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Arteche-Lopez A,
|
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Palomares-Bralo M,
|
||
Cueto-González A,
|
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Valenzuela I,
|
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Martinez-Monseny A,
|
||
Lorda-Sanchez I,
|
||
Almoguera B</span><br />
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<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Jul;60(7):644-654.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1136/jmg-2022-108632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36446582" target="_blank">36446582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36552808">A Targeted Epigenetic Clock for the Prediction of Biological Age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gensous N,
|
||
Sala C,
|
||
Pirazzini C,
|
||
Ravaioli F,
|
||
Milazzo M,
|
||
Kwiatkowska KM,
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||
Marasco E,
|
||
De Fanti S,
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||
Giuliani C,
|
||
Pellegrini C,
|
||
Santoro A,
|
||
Capri M,
|
||
Salvioli S,
|
||
Monti D,
|
||
Castellani G,
|
||
Franceschi C,
|
||
Bacalini MG,
|
||
Garagnani P</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 Dec 14;11(24)
|
||
doi: 10.3390/cells11244044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36552808" target="_blank">36552808</a><a href="/pmc/articles/PMC9777448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573342">Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanchez-Jimeno C,
|
||
Blanco-Kelly F,
|
||
López-Grondona F,
|
||
Losada-Del Pozo R,
|
||
Moreno B,
|
||
Rodrigo-Moreno M,
|
||
Martinez-Cayuelas E,
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Riveiro-Alvarez R,
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Fenollar-Cortés M,
|
||
Ayuso C,
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||
Rodríguez de Alba M,
|
||
Lorda-Sanchez I,
|
||
Almoguera B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 30;12(9)
|
||
doi: 10.3390/genes12091360.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573342" target="_blank">34573342</a><a href="/pmc/articles/PMC8471078" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33200402">Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefanski A,
|
||
Calle-López Y,
|
||
Leu C,
|
||
Pérez-Palma E,
|
||
Pestana-Knight E,
|
||
Lal D</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):143-151.
|
||
Epub 2020 Nov 17
|
||
doi: 10.1111/epi.16755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33200402" target="_blank">33200402</a><a href="/pmc/articles/PMC7839709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2062%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 (706)</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/36971690">Methylphenidate for children and adolescents with attention deficit hyperactivity disorder (ADHD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Storebø OJ,
|
||
Storm MRO,
|
||
Pereira Ribeiro J,
|
||
Skoog M,
|
||
Groth C,
|
||
Callesen HE,
|
||
Schaug JP,
|
||
Darling Rasmussen P,
|
||
Huus CL,
|
||
Zwi M,
|
||
Kirubakaran R,
|
||
Simonsen E,
|
||
Gluud C</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2023 Mar 27;3(3):CD009885.
|
||
doi: 10.1002/14651858.CD009885.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36971690" target="_blank">36971690</a><a href="/pmc/articles/PMC10042435" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35943347">Different corticosteroids and regimens for accelerating fetal lung maturation for babies at risk of preterm birth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams MJ,
|
||
Ramson JA,
|
||
Brownfoot FC</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Aug 9;8(8):CD006764.
|
||
doi: 10.1002/14651858.CD006764.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35943347" target="_blank">35943347</a><a href="/pmc/articles/PMC9362990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33200402">Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefanski A,
|
||
Calle-López Y,
|
||
Leu C,
|
||
Pérez-Palma E,
|
||
Pestana-Knight E,
|
||
Lal D</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):143-151.
|
||
Epub 2020 Nov 17
|
||
doi: 10.1111/epi.16755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33200402" target="_blank">33200402</a><a href="/pmc/articles/PMC7839709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30178724">Anxiety and depression in adults with autism spectrum disorder: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hollocks MJ,
|
||
Lerh JW,
|
||
Magiati I,
|
||
Meiser-Stedman R,
|
||
Brugha TS</span><br />
|
||
<span class="medgenPMjournal">Psychol Med</span>
|
||
2019 Mar;49(4):559-572.
|
||
Epub 2018 Sep 4
|
||
doi: 10.1017/S0033291718002283.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30178724" target="_blank">30178724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29653404">Static postural control among school-aged youth with Down syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maïano C,
|
||
Hue O,
|
||
Tracey D,
|
||
Lepage G,
|
||
Morin AJS,
|
||
Moullec G</span><br />
|
||
<span class="medgenPMjournal">Gait Posture</span>
|
||
2018 May;62:426-433.
|
||
Epub 2018 Mar 16
|
||
doi: 10.1016/j.gaitpost.2018.03.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29653404" target="_blank">29653404</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2062%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 (44)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5394083%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C5394083%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C5394083%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5394083%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=618793" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Intellectual%20developmental%20disorder%2062" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20developmental%20disorder%2062)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602887" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1742[geneid]" target="_blank">View DLG4 variations in ClinVar</a></li><li><a href="/nuccore/214830769" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=618793" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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</div>
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|
||
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/intellectual_developmental_disorder_autosomal_dominant_62" 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%2062" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
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|
||
</div>
|
||
<div class="portlet brieflink">
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||
<div class="portlet_head">
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<h3>Reviews</h3>
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||
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<div class="portlet_content">
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<ul>
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<li>
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||
<a href="/pubmed/37347881" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Intellectual%20developmental%20disorder%2062" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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</li>
|
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<li>
|
||
<a href="/pubmed?term=Intellectual%20developmental%20disorder%2062%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
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|
||
<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
|
||
</div>
|
||
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</div>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1712636" ref="log$=recordlinks">ClinVar</a>
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