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<meta name="keywords" content="C5193190, camk2g, disease or syndrome, intellectual developmental disorder 59, intellectual developmental disorder, autosomal dominant 59, mental retardation, autosomal dominant 59, mrd59, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1678593
|
||
ConceptID=C5193190
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual developmental disorder 59<span class="h1sub">(MRD59)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1678593</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:">C5193190</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 59; MENTAL RETARDATION, AUTOSOMAL DOMINANT 59</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="CAMK2G - ID: 818 - NCBI Gene" href="/gene/818" class="medgenPMinfo">CAMK2G</a> (10q22.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032795" target="_blank">MONDO:0032795</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618522" target="_blank">618522</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_102">
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<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_67454"><div><strong>Brachydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67454</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.">C0221357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67454">Feature record</a> | <a href="/medgen?term=%22Brachydactyly%22%5BClinical%20Features%5D%20OR%2067454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334684"><div><strong>Short palm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334684</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.">C1843108</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short palm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334684">Feature record</a> | <a href="/medgen?term=%22Short%20palm%22%5BClinical%20Features%5D%20OR%20334684%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376415"><div><strong>Short foot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376415</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.">C1848673</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376415">Feature record</a> | <a href="/medgen?term=%22Short%20foot%22%5BClinical%20Features%5D%20OR%20376415%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_461427"><div><strong>Mild short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461427</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.">C3150077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461427">Feature record</a> | <a href="/medgen?term=%22Mild%20short%20stature%22%5BClinical%20Features%5D%20OR%20461427%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343309"><div><strong>Protruding ear</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343309</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.">C1855285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343309">Feature record</a> | <a href="/medgen?term=%22Protruding%20ear%22%5BClinical%20Features%5D%20OR%20343309%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_19925"><div><strong>Self-mutilation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19925</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.">C0036601</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Self-mutilation%22%5BClinical%20Features%5D%20OR%2019925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48638"><div><strong>Intellectual disability, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48638</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.">C0036857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48638">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20severe%22%5BClinical%20Features%5D%20OR%2048638%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_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_341172"><div><strong>Poor speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341172</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.">C1848207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341172">Feature record</a> | <a href="/medgen?term=%22Poor%20speech%22%5BClinical%20Features%5D%20OR%20341172%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336889"><div><strong>Facial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336889</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.">C1845251</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336889">Feature record</a> | <a href="/medgen?term=%22Facial%20hypotonia%22%5BClinical%20Features%5D%20OR%20336889%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_745757"><div><strong>Macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>745757</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.">C2243051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/745757">Feature record</a> | <a href="/medgen?term=%22Macrocephaly%22%5BClinical%20Features%5D%20OR%20745757%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65991"><div><strong>High forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65991</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.">C0239676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased height of the forehead.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65991">Feature record</a> | <a href="/medgen?term=%22High%20forehead%22%5BClinical%20Features%5D%20OR%2065991%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326956"><div><strong>Narrow forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326956</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.">C1839758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326956">Feature record</a> | <a href="/medgen?term=%22Narrow%20forehead%22%5BClinical%20Features%5D%20OR%20326956%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340300"><div><strong>Long palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340300</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.">C1849340</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340300">Feature record</a> | <a href="/medgen?term=%22Long%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%20340300%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342829"><div><strong>Flat face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342829</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.">C1853241</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of concavity or convexity of the face when viewed in profile.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342829">Feature record</a> | <a href="/medgen?term=%22Flat%20face%22%5BClinical%20Features%5D%20OR%20342829%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347463"><div><strong>Flat forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347463</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.">C1857485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A forehead with abnormal flatness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347463">Feature record</a> | <a href="/medgen?term=%22Flat%20forehead%22%5BClinical%20Features%5D%20OR%20347463%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351278"><div><strong>Long philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351278</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.">C1865014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351278">Feature record</a> | <a href="/medgen?term=%22Long%20philtrum%22%5BClinical%20Features%5D%20OR%20351278%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_358357"><div><strong>Highly arched eyebrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358357</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.">C1868571</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358357">Feature record</a> | <a href="/medgen?term=%22Highly%20arched%20eyebrow%22%5BClinical%20Features%5D%20OR%20358357%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98428"><div><strong>Sacral dimple</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98428</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.">C0426848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98428">Feature record</a> | <a href="/medgen?term=%22Sacral%20dimple%22%5BClinical%20Features%5D%20OR%2098428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341661"><div><strong>Fragile nails</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341661</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.">C1856963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nails that easily break.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341661">Feature record</a> | <a href="/medgen?term=%22Fragile%20nails%22%5BClinical%20Features%5D%20OR%20341661%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44558"><div><strong>Myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44558</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.">C0027092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44558">Feature record</a> | <a href="/medgen?term=%22Myopia%22%5BClinical%20Features%5D%20OR%2044558%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flat face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347463" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flat forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Highly arched eyebrow</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340300" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long palpebral fissure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow forehead</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_67454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short foot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334684" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short palm</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_44558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia</a></span></li><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_341661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fragile nails</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sacral dimple</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_336889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_745757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly</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_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_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_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341172" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor speech</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Self-mutilation</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Protruding ear</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_461427" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mild short stature</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short 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/36216457">Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oyama N,
|
||
Vaneynde P,
|
||
Reynhout S,
|
||
Pao EM,
|
||
Timms A,
|
||
Fan X,
|
||
Foss K,
|
||
Derua R,
|
||
Janssens V,
|
||
Chung W,
|
||
Mirzaa GM</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 May;60(5):511-522.
|
||
Epub 2022 Oct 10
|
||
doi: 10.1136/jmg-2022-108713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36216457" target="_blank">36216457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36370016">Progress in Diagnosis and Management of Intellectual Disability in India: A Journey Over Half-a-Century!</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bijarnia-Mahay S,
|
||
Sandal S,
|
||
Suman P</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2022 Nov 15;59(11):875-878.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36370016" target="_blank">36370016</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20developmental%20disorder%2059)%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 (97)</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/36952288">Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maenner MJ,
|
||
Warren Z,
|
||
Williams AR,
|
||
Amoakohene E,
|
||
Bakian AV,
|
||
Bilder DA,
|
||
Durkin MS,
|
||
Fitzgerald RT,
|
||
Furnier SM,
|
||
Hughes MM,
|
||
Ladd-Acosta CM,
|
||
McArthur D,
|
||
Pas ET,
|
||
Salinas A,
|
||
Vehorn A,
|
||
Williams S,
|
||
Esler A,
|
||
Grzybowski A,
|
||
Hall-Lande J,
|
||
Nguyen RHN,
|
||
Pierce K,
|
||
Zahorodny W,
|
||
Hudson A,
|
||
Hallas L,
|
||
Mancilla KC,
|
||
Patrick M,
|
||
Shenouda J,
|
||
Sidwell K,
|
||
DiRienzo M,
|
||
Gutierrez J,
|
||
Spivey MH,
|
||
Lopez M,
|
||
Pettygrove S,
|
||
Schwenk YD,
|
||
Washington A,
|
||
Shaw KA</span><br />
|
||
<span class="medgenPMjournal">MMWR Surveill Summ</span>
|
||
2023 Mar 24;72(2):1-14.
|
||
doi: 10.15585/mmwr.ss7202a1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36952288" target="_blank">36952288</a><a href="/pmc/articles/PMC10042614" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35426257">Thyroid abnormalities in children with Down syndrome at St. Paul's hospital millennium medical college, Ethiopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mulu B,
|
||
Fantahun B</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Diabetes Metab</span>
|
||
2022 May;5(3):e00337.
|
||
Epub 2022 Apr 14
|
||
doi: 10.1002/edm2.337.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35426257" target="_blank">35426257</a><a href="/pmc/articles/PMC9094469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33739554">Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taşkıran EZ,
|
||
Karaosmanoğlu B,
|
||
Koşukcu C,
|
||
Ürel-Demir G,
|
||
Akgün-Doğan Ö,
|
||
Şimşek-Kiper PÖ,
|
||
Alikaşifoğlu M,
|
||
Boduroğlu K,
|
||
Utine GE</span><br />
|
||
<span class="medgenPMjournal">J Intellect Disabil Res</span>
|
||
2021 Jun;65(6):577-588.
|
||
Epub 2021 Mar 19
|
||
doi: 10.1111/jir.12835.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33739554" target="_blank">33739554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31746968">Incidence Rates and Cumulative Incidences of the Full Spectrum of Diagnosed Mental Disorders in Childhood and Adolescence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dalsgaard S,
|
||
Thorsteinsson E,
|
||
Trabjerg BB,
|
||
Schullehner J,
|
||
Plana-Ripoll O,
|
||
Brikell I,
|
||
Wimberley T,
|
||
Thygesen M,
|
||
Madsen KB,
|
||
Timmerman A,
|
||
Schendel D,
|
||
McGrath JJ,
|
||
Mortensen PB,
|
||
Pedersen CB</span><br />
|
||
<span class="medgenPMjournal">JAMA Psychiatry</span>
|
||
2020 Feb 1;77(2):155-164.
|
||
doi: 10.1001/jamapsychiatry.2019.3523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31746968" target="_blank">31746968</a><a href="/pmc/articles/PMC6902162" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28573662">Offenders with intellectual disabilities in prison: what happens when they leave?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murphy GH,
|
||
Chiu P,
|
||
Triantafyllopoulou P,
|
||
Barnoux M,
|
||
Blake E,
|
||
Cooke J,
|
||
Forrester-Jones RVE,
|
||
Gore NJ,
|
||
Beecham JK</span><br />
|
||
<span class="medgenPMjournal">J Intellect Disabil Res</span>
|
||
2017 Oct;61(10):957-968.
|
||
Epub 2017 Jun 1
|
||
doi: 10.1111/jir.12374.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28573662" target="_blank">28573662</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2059%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 (1162)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36952288">Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maenner MJ,
|
||
Warren Z,
|
||
Williams AR,
|
||
Amoakohene E,
|
||
Bakian AV,
|
||
Bilder DA,
|
||
Durkin MS,
|
||
Fitzgerald RT,
|
||
Furnier SM,
|
||
Hughes MM,
|
||
Ladd-Acosta CM,
|
||
McArthur D,
|
||
Pas ET,
|
||
Salinas A,
|
||
Vehorn A,
|
||
Williams S,
|
||
Esler A,
|
||
Grzybowski A,
|
||
Hall-Lande J,
|
||
Nguyen RHN,
|
||
Pierce K,
|
||
Zahorodny W,
|
||
Hudson A,
|
||
Hallas L,
|
||
Mancilla KC,
|
||
Patrick M,
|
||
Shenouda J,
|
||
Sidwell K,
|
||
DiRienzo M,
|
||
Gutierrez J,
|
||
Spivey MH,
|
||
Lopez M,
|
||
Pettygrove S,
|
||
Schwenk YD,
|
||
Washington A,
|
||
Shaw KA</span><br />
|
||
<span class="medgenPMjournal">MMWR Surveill Summ</span>
|
||
2023 Mar 24;72(2):1-14.
|
||
doi: 10.15585/mmwr.ss7202a1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36952288" target="_blank">36952288</a><a href="/pmc/articles/PMC10042614" target="_blank" class="PubMedFree">Free PMC Article</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/36370016">Progress in Diagnosis and Management of Intellectual Disability in India: A Journey Over Half-a-Century!</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bijarnia-Mahay S,
|
||
Sandal S,
|
||
Suman P</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2022 Nov 15;59(11):875-878.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36370016" target="_blank">36370016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31558576">Prevalence and Trends of Developmental Disabilities among Children in the United States: 2009-2017.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zablotsky B,
|
||
Black LI,
|
||
Maenner MJ,
|
||
Schieve LA,
|
||
Danielson ML,
|
||
Bitsko RH,
|
||
Blumberg SJ,
|
||
Kogan MD,
|
||
Boyle CA</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2019 Oct;144(4)
|
||
doi: 10.1542/peds.2019-0811.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31558576" target="_blank">31558576</a><a href="/pmc/articles/PMC7076808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29701730">Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baio J,
|
||
Wiggins L,
|
||
Christensen DL,
|
||
Maenner MJ,
|
||
Daniels J,
|
||
Warren Z,
|
||
Kurzius-Spencer M,
|
||
Zahorodny W,
|
||
Robinson Rosenberg C,
|
||
White T,
|
||
Durkin MS,
|
||
Imm P,
|
||
Nikolaou L,
|
||
Yeargin-Allsopp M,
|
||
Lee LC,
|
||
Harrington R,
|
||
Lopez M,
|
||
Fitzgerald RT,
|
||
Hewitt A,
|
||
Pettygrove S,
|
||
Constantino JN,
|
||
Vehorn A,
|
||
Shenouda J,
|
||
Hall-Lande J,
|
||
Van Naarden Braun K,
|
||
Dowling NF</span><br />
|
||
<span class="medgenPMjournal">MMWR Surveill Summ</span>
|
||
2018 Apr 27;67(6):1-23.
|
||
doi: 10.15585/mmwr.ss6706a1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29701730" target="_blank">29701730</a><a href="/pmc/articles/PMC5919599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2059%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 (933)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38691583">Cytokine profiling in 128 patients with transient abnormal myelopoiesis: a report from the JPLSG TAM-10 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamato G,
|
||
Tsumura Y,
|
||
Muramatsu H,
|
||
Shimada A,
|
||
Imaizumi T,
|
||
Tsukagoshi H,
|
||
Kaburagi T,
|
||
Shiba N,
|
||
Yamada Y,
|
||
Deguchi T,
|
||
Kawai T,
|
||
Terui K,
|
||
Ito E,
|
||
Watanabe K,
|
||
Hayashi Y</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2024 Jun 25;8(12):3120-3129.
|
||
doi: 10.1182/bloodadvances.2023011628.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38691583" target="_blank">38691583</a><a href="/pmc/articles/PMC11222942" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34299891">Effectiveness of Swimming Program in Adolescents with Down Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naczk A,
|
||
Gajewska E,
|
||
Naczk M</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2021 Jul 12;18(14)
|
||
doi: 10.3390/ijerph18147441.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34299891" target="_blank">34299891</a><a href="/pmc/articles/PMC8306436" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29635767">Movement-based seizure detection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arends JBAM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2018 Jun;59 Suppl 1:30-35.
|
||
Epub 2018 Apr 9
|
||
doi: 10.1111/epi.14053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29635767" target="_blank">29635767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25565473">Treating nonsuicidal self-injury: a systematic review of psychological and pharmacological interventions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner BJ,
|
||
Austin SB,
|
||
Chapman AL</span><br />
|
||
<span class="medgenPMjournal">Can J Psychiatry</span>
|
||
2014 Nov;59(11):576-85.
|
||
doi: 10.1177/070674371405901103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25565473" target="_blank">25565473</a><a href="/pmc/articles/PMC4244876" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20332518">A bitter pill.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menon S,
|
||
Stone T,
|
||
Butterworth J</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2010 Apr;59(4):451, 507.
|
||
doi: 10.1136/gut.2008.173468.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20332518" target="_blank">20332518</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2059%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 (305)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38691583">Cytokine profiling in 128 patients with transient abnormal myelopoiesis: a report from the JPLSG TAM-10 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamato G,
|
||
Tsumura Y,
|
||
Muramatsu H,
|
||
Shimada A,
|
||
Imaizumi T,
|
||
Tsukagoshi H,
|
||
Kaburagi T,
|
||
Shiba N,
|
||
Yamada Y,
|
||
Deguchi T,
|
||
Kawai T,
|
||
Terui K,
|
||
Ito E,
|
||
Watanabe K,
|
||
Hayashi Y</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2024 Jun 25;8(12):3120-3129.
|
||
doi: 10.1182/bloodadvances.2023011628.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38691583" target="_blank">38691583</a><a href="/pmc/articles/PMC11222942" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34930816">De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schalk A,
|
||
Cousin MA,
|
||
Dsouza NR,
|
||
Challman TD,
|
||
Wain KE,
|
||
Powis Z,
|
||
Minks K,
|
||
Trimouille A,
|
||
Lasseaux E,
|
||
Lacombe D,
|
||
Angelini C,
|
||
Michaud V,
|
||
Van-Gils J,
|
||
Spataro N,
|
||
Ruiz A,
|
||
Gabau E,
|
||
Stolerman E,
|
||
Washington C,
|
||
Louie R,
|
||
Lanpher BC,
|
||
Kemppainen JL,
|
||
Innes M,
|
||
Kooy F,
|
||
Meuwissen M,
|
||
Goldenberg A,
|
||
Lecoquierre F,
|
||
Vera G,
|
||
Diderich KEM,
|
||
Sheidley B,
|
||
El Achkar CM,
|
||
Park M,
|
||
Hamdan FF,
|
||
Michaud JL,
|
||
Lewis AJ,
|
||
Zweier C,
|
||
Reis A,
|
||
Wagner M,
|
||
Weigand H,
|
||
Journel H,
|
||
Keren B,
|
||
Passemard S,
|
||
Mignot C,
|
||
van Gassen K,
|
||
Brilstra EH,
|
||
Itzikowitz G,
|
||
O'Heir E,
|
||
Allen J,
|
||
Donald KA,
|
||
Korf BR,
|
||
Skelton T,
|
||
Thompson M,
|
||
Robin NH,
|
||
Rudy NL,
|
||
Dobyns WB,
|
||
Foss K,
|
||
Zarate YA,
|
||
Bosanko KA,
|
||
Alembik Y,
|
||
Durand B,
|
||
Tran Mau-Them F,
|
||
Ranza E,
|
||
Blanc X,
|
||
Antonarakis SE,
|
||
McWalter K,
|
||
Torti E,
|
||
Millan F,
|
||
Dameron A,
|
||
Tokita M,
|
||
Zimmermann MT,
|
||
Klee EW,
|
||
Piton A,
|
||
Gerard B</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Oct;59(10):965-975.
|
||
Epub 2021 Dec 15
|
||
doi: 10.1136/jmedgenet-2021-107751.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34930816" target="_blank">34930816</a><a href="/pmc/articles/PMC9241146" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32559475">Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groeneweg S,
|
||
van Geest FS,
|
||
Abacı A,
|
||
Alcantud A,
|
||
Ambegaonkar GP,
|
||
Armour CM,
|
||
Bakhtiani P,
|
||
Barca D,
|
||
Bertini ES,
|
||
van Beynum IM,
|
||
Brunetti-Pierri N,
|
||
Bugiani M,
|
||
Cappa M,
|
||
Cappuccio G,
|
||
Castellotti B,
|
||
Castiglioni C,
|
||
Chatterjee K,
|
||
de Coo IFM,
|
||
Coutant R,
|
||
Craiu D,
|
||
Crock P,
|
||
DeGoede C,
|
||
Demir K,
|
||
Dica A,
|
||
Dimitri P,
|
||
Dolcetta-Capuzzo A,
|
||
Dremmen MHG,
|
||
Dubey R,
|
||
Enderli A,
|
||
Fairchild J,
|
||
Gallichan J,
|
||
George B,
|
||
Gevers EF,
|
||
Hackenberg A,
|
||
Halász Z,
|
||
Heinrich B,
|
||
Huynh T,
|
||
Kłosowska A,
|
||
van der Knaap MS,
|
||
van der Knoop MM,
|
||
Konrad D,
|
||
Koolen DA,
|
||
Krude H,
|
||
Lawson-Yuen A,
|
||
Lebl J,
|
||
Linder-Lucht M,
|
||
Lorea CF,
|
||
Lourenço CM,
|
||
Lunsing RJ,
|
||
Lyons G,
|
||
Malikova J,
|
||
Mancilla EE,
|
||
McGowan A,
|
||
Mericq V,
|
||
Lora FM,
|
||
Moran C,
|
||
Müller KE,
|
||
Oliver-Petit I,
|
||
Paone L,
|
||
Paul PG,
|
||
Polak M,
|
||
Porta F,
|
||
Poswar FO,
|
||
Reinauer C,
|
||
Rozenkova K,
|
||
Menevse TS,
|
||
Simm P,
|
||
Simon A,
|
||
Singh Y,
|
||
Spada M,
|
||
van der Spek J,
|
||
Stals MAM,
|
||
Stoupa A,
|
||
Subramanian GM,
|
||
Tonduti D,
|
||
Turan S,
|
||
den Uil CA,
|
||
Vanderniet J,
|
||
van der Walt A,
|
||
Wémeau JL,
|
||
Wierzba J,
|
||
de Wit MY,
|
||
Wolf NI,
|
||
Wurm M,
|
||
Zibordi F,
|
||
Zung A,
|
||
Zwaveling-Soonawala N,
|
||
Visser WE</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2020 Jul;8(7):594-605.
|
||
doi: 10.1016/S2213-8587(20)30153-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32559475" target="_blank">32559475</a><a href="/pmc/articles/PMC7611932" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29635767">Movement-based seizure detection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arends JBAM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2018 Jun;59 Suppl 1:30-35.
|
||
Epub 2018 Apr 9
|
||
doi: 10.1111/epi.14053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29635767" target="_blank">29635767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1535338">VOJTA neurophysiologic therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bauer H,
|
||
Appaji G,
|
||
Mundt D</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1992 Jan-Feb;59(1):37-51.
|
||
doi: 10.1007/BF02760897.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1535338" target="_blank">1535338</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2059%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 (459)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36952288">Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maenner MJ,
|
||
Warren Z,
|
||
Williams AR,
|
||
Amoakohene E,
|
||
Bakian AV,
|
||
Bilder DA,
|
||
Durkin MS,
|
||
Fitzgerald RT,
|
||
Furnier SM,
|
||
Hughes MM,
|
||
Ladd-Acosta CM,
|
||
McArthur D,
|
||
Pas ET,
|
||
Salinas A,
|
||
Vehorn A,
|
||
Williams S,
|
||
Esler A,
|
||
Grzybowski A,
|
||
Hall-Lande J,
|
||
Nguyen RHN,
|
||
Pierce K,
|
||
Zahorodny W,
|
||
Hudson A,
|
||
Hallas L,
|
||
Mancilla KC,
|
||
Patrick M,
|
||
Shenouda J,
|
||
Sidwell K,
|
||
DiRienzo M,
|
||
Gutierrez J,
|
||
Spivey MH,
|
||
Lopez M,
|
||
Pettygrove S,
|
||
Schwenk YD,
|
||
Washington A,
|
||
Shaw KA</span><br />
|
||
<span class="medgenPMjournal">MMWR Surveill Summ</span>
|
||
2023 Mar 24;72(2):1-14.
|
||
doi: 10.15585/mmwr.ss7202a1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36952288" target="_blank">36952288</a><a href="/pmc/articles/PMC10042614" target="_blank" class="PubMedFree">Free PMC Article</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/36216457">Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oyama N,
|
||
Vaneynde P,
|
||
Reynhout S,
|
||
Pao EM,
|
||
Timms A,
|
||
Fan X,
|
||
Foss K,
|
||
Derua R,
|
||
Janssens V,
|
||
Chung W,
|
||
Mirzaa GM</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 May;60(5):511-522.
|
||
Epub 2022 Oct 10
|
||
doi: 10.1136/jmg-2022-108713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36216457" target="_blank">36216457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33985586">Calcium channelopathies and intellectual disability: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kessi M,
|
||
Chen B,
|
||
Peng J,
|
||
Yan F,
|
||
Yang L,
|
||
Yin F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 May 13;16(1):219.
|
||
doi: 10.1186/s13023-021-01850-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33985586" target="_blank">33985586</a><a href="/pmc/articles/PMC8120735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29701730">Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baio J,
|
||
Wiggins L,
|
||
Christensen DL,
|
||
Maenner MJ,
|
||
Daniels J,
|
||
Warren Z,
|
||
Kurzius-Spencer M,
|
||
Zahorodny W,
|
||
Robinson Rosenberg C,
|
||
White T,
|
||
Durkin MS,
|
||
Imm P,
|
||
Nikolaou L,
|
||
Yeargin-Allsopp M,
|
||
Lee LC,
|
||
Harrington R,
|
||
Lopez M,
|
||
Fitzgerald RT,
|
||
Hewitt A,
|
||
Pettygrove S,
|
||
Constantino JN,
|
||
Vehorn A,
|
||
Shenouda J,
|
||
Hall-Lande J,
|
||
Van Naarden Braun K,
|
||
Dowling NF</span><br />
|
||
<span class="medgenPMjournal">MMWR Surveill Summ</span>
|
||
2018 Apr 27;67(6):1-23.
|
||
doi: 10.15585/mmwr.ss6706a1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29701730" target="_blank">29701730</a><a href="/pmc/articles/PMC5919599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2059%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 (723)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37170246">A systematic review of intellectual and developmental disability curriculum in international pre-graduate health professional education.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vi L,
|
||
Jiwa MI,
|
||
Lunsky Y,
|
||
Thakur A</span><br />
|
||
<span class="medgenPMjournal">BMC Med Educ</span>
|
||
2023 May 11;23(1):329.
|
||
doi: 10.1186/s12909-023-04259-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37170246" target="_blank">37170246</a><a href="/pmc/articles/PMC10176941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35026139">Global, regional, and national burden of 12 mental disorders in 204 countries and territories, 1990-2019: a systematic analysis for the Global Burden of Disease Study 2019.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">GBD 2019 Mental Disorders Collaborators</span><br />
|
||
<span class="medgenPMjournal">Lancet Psychiatry</span>
|
||
2022 Feb;9(2):137-150.
|
||
Epub 2022 Jan 10
|
||
doi: 10.1016/S2215-0366(21)00395-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35026139" target="_blank">35026139</a><a href="/pmc/articles/PMC8776563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33985586">Calcium channelopathies and intellectual disability: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kessi M,
|
||
Chen B,
|
||
Peng J,
|
||
Yan F,
|
||
Yang L,
|
||
Yin F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 May 13;16(1):219.
|
||
doi: 10.1186/s13023-021-01850-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33985586" target="_blank">33985586</a><a href="/pmc/articles/PMC8120735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29211265">Interventions to promote physical activity for youth with intellectual disabilities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frey GC,
|
||
Temple VA,
|
||
Stanish HI</span><br />
|
||
<span class="medgenPMjournal">Salud Publica Mex</span>
|
||
2017 Jul-Aug;59(4):437-445.
|
||
doi: 10.21149/8203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29211265" target="_blank">29211265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25565473">Treating nonsuicidal self-injury: a systematic review of psychological and pharmacological interventions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner BJ,
|
||
Austin SB,
|
||
Chapman AL</span><br />
|
||
<span class="medgenPMjournal">Can J Psychiatry</span>
|
||
2014 Nov;59(11):576-85.
|
||
doi: 10.1177/070674371405901103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25565473" target="_blank">25565473</a><a href="/pmc/articles/PMC4244876" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2059%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>
|
||
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<div class=" bottom">
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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|
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|
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<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_content ln"><ul><li><a href="/gtr/tests?term=C5193190%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C5193190%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C5193190%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5193190%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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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%2059)%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_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602123" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=818[geneid]" target="_blank">View CAMK2G variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=618522" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/intellectual_developmental_disorder_autosomal_dominant_59" 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%2059" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Intellectual%20developmental%20disorder%2059" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Intellectual%20developmental%20disorder%2059%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1678593" ref="log$=recordlinks">ClinVar</a>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1678593" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5193190[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5193190[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1678593" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cca8cf84f3725e598c35e0">Intellectual developmental disorder 59</a>
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