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<meta name="keywords" content="C3150700, autosomal dominant intellectual disability 20, autosomal dominant mental retardation 20, autosomal dominant non-syndromic intellectual disability caused by mutation in mef2c, chromosome 5q14.3 deletion syndrome, chromosome 5q14.3 deletion syndrome, proximal, disease or syndrome, intellectual disability, autosomal dominant 20, intellectual disability, autosomal dominant type 20, intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations, mef2c, mef2c autosomal dominant non-syndromic intellectual disability, mef2c deficiency, mental retardation, autosomal dominant 20, mental retardation, autosomal dominant 20, formerly, mental retardation, autosomal dominant type 20, mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, mrd20, mrd20, formerly, nedhsil, neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language, 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="MEF2C-related disorder is characterized by moderate-to-profound developmental delay with subsequent intellectual disability, hypotonia, dysmorphic features, seizures, neurobehavioral manifestations (autistic features, sleep issues, stereotypic movements particularly of the hands), vision issues, and cardiac manifestations. Individuals who are able to speak typically only use a few words and are not able to communicate in sentences. Approximately half of individuals are unable to walk independently; however, many are able to walk with some assistance." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Intellectual disability, autosomal dominant 20 (Concept Id: C3150700)
- MedGen - NCBI</title>
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<!--
UID=462050
ConceptID=C3150700
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, autosomal dominant 20<span class="h1sub">(NEDHSIL)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462050</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)&#10;Click for more information."><span class="highlight" style="background-color:">C3150700</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>Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; NEDHSIL; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE</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="MEF2C - ID: 4208 - NCBI Gene" href="/gene/4208" class="medgenPMinfo">MEF2C</a> (5q14.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0013266" target="_blank">MONDO:0013266</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/613443" target="_blank">613443</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<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/NBK610216" target="_blank">MEF2C-Related Disorder</a></div><div>MEF2C-related disorder is characterized by moderate-to-profound developmental delay with subsequent intellectual disability, hypotonia, dysmorphic features, seizures, neurobehavioral manifestations (autistic features, sleep issues, stereotypic movements particularly of the hands), vision issues, and cardiac manifestations. Individuals who are able to speak typically only use a few words and are not able to communicate in sentences. Approximately half of individuals are unable to walk independently; however, many are able to walk with some assistance. [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/NBK610216#mef2c-dis.Summary" target="NBK610216">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK610216#mef2c-dis.Diagnosis" target="NBK610216">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK610216#mef2c-dis.Clinical_Characteristics" target="NBK610216">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK610216#mef2c-dis.Genetically_Related_Allelic_Di" target="NBK610216">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK610216#mef2c-dis.Differential_Diagnosis" target="NBK610216">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK610216#mef2c-dis.Management" target="NBK610216">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK610216#mef2c-dis.Genetic_Counseling" target="NBK610216">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK610216#mef2c-dis.Resources" target="NBK610216">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK610216#mef2c-dis.Molecular_Genetics" target="NBK610216">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK610216#mef2c-dis.Chapter_Notes" target="NBK610216">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK610216#mef2c-dis.References" target="NBK610216">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Jessica Cooley Coleman  |  Steven A Skinner   <a href="/books/NBK610216" target="NBK610216" title="NCBI Bookshelf: MEF2C-Related Disorder">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (NEDHSIL) is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities. Almost all affected individuals demonstrate repetitive stereotypic hand movements that can be categorized as hyperkinetic and resembling those of Rett syndrome (RTT; 312750). About 80% of patients develop various types of seizures that may be refractory to treatment. Additional features may include dysmorphic facial features, particularly dysplastic ears, poor eye contact, episodic hyperventilation, tendency to infection, and abnormalities on brain imaging, such as enlarged ventricles, thin corpus callosum, and delayed myelination (summary by Vrecar et al., 2017, Paciorkowski et al., 2013).  <a target="_blank" href="http://www.omim.org/entry/613443">http://www.omim.org/entry/613443</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_96108"><div><strong>Single transverse palmar crease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96108</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)&#10;Click for more information.">C0424731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96108">Feature record</a> | <a href="/medgen?term=%22Single%20transverse%20palmar%20crease%22%5BClinical%20Features%5D%20OR%2096108%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_340456"><div><strong>Clinodactyly of the 5th finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340456</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)&#10;Click for more information.">C1850049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340456">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%20of%20the%205th%20finger%22%5BClinical%20Features%5D%20OR%20340456%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1645640"><div><strong>2-3 toe syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645640</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)&#10;Click for more information.">C4551570</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Syndactyly with fusion of toes two and three.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1645640">Feature record</a> | <a href="/medgen?term=%222-3%20toe%20syndactyly%22%5BClinical%20Features%5D%20OR%201645640%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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)&#10;Click for more information.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%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)&#10;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_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)&#10;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_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)&#10;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_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</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)&#10;Click for more information.">C0038271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66034"><div><strong>Delayed ability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66034</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)&#10;Click for more information.">C0241726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20walk%22%5BClinical%20Features%5D%20OR%2066034%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_452596"><div><strong>Epileptic encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452596</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)&#10;Click for more information.">C0543888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/452596">Feature record</a> | <a href="/medgen?term=%22Epileptic%20encephalopathy%22%5BClinical%20Features%5D%20OR%20452596%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107860"><div><strong>Inability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107860</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)&#10;Click for more information.">C0560046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Incapability to ambulate.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107860">Feature record</a> | <a href="/medgen?term=%22Inability%20to%20walk%22%5BClinical%20Features%5D%20OR%20107860%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_181756"><div><strong>Abnormal cerebral white matter morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>181756</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)&#10;Click for more information.">C0948163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of the cerebral white matter.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/181756">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cerebral%20white%20matter%20morphology%22%5BClinical%20Features%5D%20OR%20181756%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_303190"><div><strong>Reduced eye contact</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>303190</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)&#10;Click for more information.">C1445953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A reduced frequency or duration of eye contact.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/303190">Feature record</a> | <a href="/medgen?term=%22Reduced%20eye%20contact%22%5BClinical%20Features%5D%20OR%20303190%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_376050"><div><strong>Dilated fourth ventricle</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376050</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)&#10;Click for more information.">C1847117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal dilatation of the fourth cerebral ventricle.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376050">Feature record</a> | <a href="/medgen?term=%22Dilated%20fourth%20ventricle%22%5BClinical%20Features%5D%20OR%20376050%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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)&#10;Click for more information.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</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)&#10;Click for more information.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_383904"><div><strong>Lateral ventricle dilatation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383904</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)&#10;Click for more information.">C1856409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383904">Feature record</a> | <a href="/medgen?term=%22Lateral%20ventricle%20dilatation%22%5BClinical%20Features%5D%20OR%20383904%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_435926"><div><strong>Abnormal periventricular white matter morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435926</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)&#10;Click for more information.">C2673431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/435926">Feature record</a> | <a href="/medgen?term=%22Abnormal%20periventricular%20white%20matter%20morphology%22%5BClinical%20Features%5D%20OR%20435926%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</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)&#10;Click for more information.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1368737"><div><strong>Delayed ability to sit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368737</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)&#10;Click for more information.">C4476710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1368737">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20sit%22%5BClinical%20Features%5D%20OR%201368737%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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)&#10;Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98390"><div><strong>Upslanted palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98390</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)&#10;Click for more information.">C0423109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98390">Feature record</a> | <a href="/medgen?term=%22Upslanted%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%2098390%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140914"><div><strong>Lobulated tongue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140914</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)&#10;Click for more information.">C0431564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140914">Feature record</a> | <a href="/medgen?term=%22Lobulated%20tongue%22%5BClinical%20Features%5D%20OR%20140914%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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)&#10;Click for more information.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</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)&#10;Click for more information.">C1840077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_338610"><div><strong>Broad forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338610</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)&#10;Click for more information.">C1849089</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 above the mean (objective); or apparently increased distance between the two sides of the forehead.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/338610">Feature record</a> | <a href="/medgen?term=%22Broad%20forehead%22%5BClinical%20Features%5D%20OR%20338610%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_343052"><div><strong>Short nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343052</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)&#10;Click for more information.">C1854114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343052">Feature record</a> | <a href="/medgen?term=%22Short%20nose%22%5BClinical%20Features%5D%20OR%20343052%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_350006"><div><strong>Short philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350006</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)&#10;Click for more information.">C1861324</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 below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/350006">Feature record</a> | <a href="/medgen?term=%22Short%20philtrum%22%5BClinical%20Features%5D%20OR%20350006%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_355352"><div><strong>Thin upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355352</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)&#10;Click for more information.">C1865017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355352">Feature record</a> | <a href="/medgen?term=%22Thin%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20355352%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_356471"><div><strong>Downturned corners of mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356471</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)&#10;Click for more information.">C1866195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356471">Feature record</a> | <a href="/medgen?term=%22Downturned%20corners%20of%20mouth%22%5BClinical%20Features%5D%20OR%20356471%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_784514"><div><strong>Short chin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>784514</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)&#10;Click for more information.">C3697248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/784514">Feature record</a> | <a href="/medgen?term=%22Short%20chin%22%5BClinical%20Features%5D%20OR%20784514%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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)&#10;Click for more information.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_473112"><div><strong>Deeply set eye</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473112</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)&#10;Click for more information.">C0423224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An eye that is more deeply recessed into the plane of the face than is typical.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/473112">Feature record</a> | <a href="/medgen?term=%22Deeply%20set%20eye%22%5BClinical%20Features%5D%20OR%20473112%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338610" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad forehead</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356471" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downturned corners of mouth</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lobulated tongue</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_784514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short chin</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short nose</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_350006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short philtrum</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin upper lip vermilion</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upslanted palpebral fissure</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_1645640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">2-3 toe syndactyly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly of the 5th finger</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Single transverse palmar crease</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</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_473112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deeply set eye</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</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_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</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_181756" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cerebral white matter morphology</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_435926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal periventricular white matter morphology</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to sit</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to walk</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376050" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated fourth ventricle</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic encephalopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inability to walk</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_383904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lateral ventricle dilatation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_303190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced eye contact</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_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</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></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/37183190">Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">D'Onofrio G,
Accogli A,
Severino M,
Caliskan H,
Kokotović T,
Blazekovic A,
Jercic KG,
Markovic S,
Zigman T,
Goran K,
Barišić N,
Duranovic V,
Ban A,
Borovecki F,
Ramadža DP,
Barić I,
Fazeli W,
Herkenrath P,
Marini C,
Vittorini R,
Gowda V,
Bouman A,
Rocca C,
Alkhawaja IA,
Murtaza BN,
Rehman MMU,
Al Alam C,
Nader G,
Mancardi MM,
Giacomini T,
Srivastava S,
Alvi JR,
Tomoum H,
Matricardi S,
Iacomino M,
Riva A,
Scala M,
Madia F,
Pistorio A,
Salpietro V,
Minetti C,
Rivière JB,
Srour M,
Efthymiou S,
Maroofian R,
Houlden H,
Vernes SC,
Zara F,
Striano P,
Nagy V</span><br />
<span class="medgenPMjournal">Hum Genet</span>
2023 Jul;142(7):909-925.
Epub 2023 May 14
doi: 10.1007/s00439-023-02552-2.
<span class="bold">PMID: </span><a href="/pubmed/37183190" target="_blank">37183190</a><a href="/pmc/articles/PMC10329570" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36293418">Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miroševič Š,
Khandelwal S,
Sušjan P,
Žakelj N,
Gosar D,
Forstnerič V,
Lainšček D,
Jerala R,
Osredkar D</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2022 Oct 19;23(20)
doi: 10.3390/ijms232012564.
<span class="bold">PMID: </span><a href="/pubmed/36293418" target="_blank">36293418</a><a href="/pmc/articles/PMC9604177" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33176815">Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lin L,
Zhang Y,
Pan H,
Wang J,
Qi Y,
Ma Y</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2020 Nov 11;15(1):317.
doi: 10.1186/s13023-020-01599-y.
<span class="bold">PMID: </span><a href="/pubmed/33176815" target="_blank">33176815</a><a href="/pmc/articles/PMC7656751" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20autosomal%20dominant%2020)%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 (6)</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/37855447">Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gorijala P,
Aslam MM,
Dang LT,
Xicota L,
Fernandez MV,
Sung YJ,
Fan KH,
Feingold E,
Surace EI,
Chhatwal JP,
Hom CL;
Dominantly Inherited Alzheimer Network (DIAN), the Alzheimer's Disease Neuroimaging Initiative (ADNI);
NIA-LOAD family study, for the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS) Investigators,
Hartley SL,
Hassenstab J,
Perrin RJ,
Mapstone M,
Zaman SH,
Ances BM,
Kamboh MI,
Lee JH,
Cruchaga C</span><br />
<span class="medgenPMjournal">Alzheimers Dement</span>
2024 Feb;20(2):1038-1049.
Epub 2023 Oct 19
doi: 10.1002/alz.13506.
<span class="bold">PMID: </span><a href="/pubmed/37855447" target="_blank">37855447</a><a href="/pmc/articles/PMC10916941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36293418">Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miroševič Š,
Khandelwal S,
Sušjan P,
Žakelj N,
Gosar D,
Forstnerič V,
Lainšček D,
Jerala R,
Osredkar D</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2022 Oct 19;23(20)
doi: 10.3390/ijms232012564.
<span class="bold">PMID: </span><a href="/pubmed/36293418" target="_blank">36293418</a><a href="/pmc/articles/PMC9604177" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34358384">Clinical experience with non-invasive prenatal screening for single-gene disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
<span class="bold">PMID: </span><a href="/pubmed/34358384" target="_blank">34358384</a><a href="/pmc/articles/PMC9302116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34687637">Alzheimer's disease associated with Down syndrome: a genetic form of dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fortea J,
Zaman SH,
Hartley S,
Rafii MS,
Head E,
Carmona-Iragui M</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2021 Nov;20(11):930-942.
doi: 10.1016/S1474-4422(21)00245-3.
<span class="bold">PMID: </span><a href="/pubmed/34687637" target="_blank">34687637</a><a href="/pmc/articles/PMC9387748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33783954">Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sheppard SE,
Campbell IM,
Harr MH,
Gold N,
Li D,
Bjornsson HT,
Cohen JS,
Fahrner JA,
Fatemi A,
Harris JR,
Nowak C,
Stevens CA,
Grand K,
Au M,
Graham JM Jr,
Sanchez-Lara PA,
Campo MD,
Jones MC,
Abdul-Rahman O,
Alkuraya FS,
Bassetti JA,
Bergstrom K,
Bhoj E,
Dugan S,
Kaplan JD,
Derar N,
Gripp KW,
Hauser N,
Innes AM,
Keena B,
Kodra N,
Miller R,
Nelson B,
Nowaczyk MJ,
Rahbeeni Z,
Ben-Shachar S,
Shieh JT,
Slavotinek A,
Sobering AK,
Abbott MA,
Allain DC,
Amlie-Wolf L,
Au PYB,
Bedoukian E,
Beek G,
Barry J,
Berg J,
Bernstein JA,
Cytrynbaum C,
Chung BH,
Donoghue S,
Dorrani N,
Eaton A,
Flores-Daboub JA,
Dubbs H,
Felix CA,
Fong CT,
Fung JLF,
Gangaram B,
Goldstein A,
Greenberg R,
Ha TK,
Hersh J,
Izumi K,
Kallish S,
Kravets E,
Kwok PY,
Jobling RK,
Knight Johnson AE,
Kushner J,
Lee BH,
Levin B,
Lindstrom K,
Manickam K,
Mardach R,
McCormick E,
McLeod DR,
Mentch FD,
Minks K,
Muraresku C,
Nelson SF,
Porazzi P,
Pichurin PN,
Powell-Hamilton NN,
Powis Z,
Ritter A,
Rogers C,
Rohena L,
Ronspies C,
Schroeder A,
Stark Z,
Starr L,
Stoler J,
Suwannarat P,
Velinov M,
Weksberg R,
Wilnai Y,
Zadeh N,
Zand DJ,
Falk MJ,
Hakonarson H,
Zackai EH,
Quintero-Rivera F</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2021 Jun;185(6):1649-1665.
Epub 2021 Mar 30
doi: 10.1002/ajmg.a.62124.
<span class="bold">PMID: </span><a href="/pubmed/33783954" target="_blank">33783954</a><a href="/pmc/articles/PMC8631250" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2020%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 (21)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39366843">Clinical and research application of fluid biomarkers in autosomal dominant Alzheimer's disease and Down syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Carmona-Iragui M,
O'Connor A,
Llibre-Guerra J,
Lao P,
Ashton NJ,
Fortea J,
Sánchez-Valle R</span><br />
<span class="medgenPMjournal">EBioMedicine</span>
2024 Oct;108:105327.
Epub 2024 Oct 3
doi: 10.1016/j.ebiom.2024.105327.
<span class="bold">PMID: </span><a href="/pubmed/39366843" target="_blank">39366843</a><a href="/pmc/articles/PMC11663788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37855447">Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gorijala P,
Aslam MM,
Dang LT,
Xicota L,
Fernandez MV,
Sung YJ,
Fan KH,
Feingold E,
Surace EI,
Chhatwal JP,
Hom CL;
Dominantly Inherited Alzheimer Network (DIAN), the Alzheimer's Disease Neuroimaging Initiative (ADNI);
NIA-LOAD family study, for the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS) Investigators,
Hartley SL,
Hassenstab J,
Perrin RJ,
Mapstone M,
Zaman SH,
Ances BM,
Kamboh MI,
Lee JH,
Cruchaga C</span><br />
<span class="medgenPMjournal">Alzheimers Dement</span>
2024 Feb;20(2):1038-1049.
Epub 2023 Oct 19
doi: 10.1002/alz.13506.
<span class="bold">PMID: </span><a href="/pubmed/37855447" target="_blank">37855447</a><a href="/pmc/articles/PMC10916941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34358384">Clinical experience with non-invasive prenatal screening for single-gene disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
<span class="bold">PMID: </span><a href="/pubmed/34358384" target="_blank">34358384</a><a href="/pmc/articles/PMC9302116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34687637">Alzheimer's disease associated with Down syndrome: a genetic form of dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fortea J,
Zaman SH,
Hartley S,
Rafii MS,
Head E,
Carmona-Iragui M</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2021 Nov;20(11):930-942.
doi: 10.1016/S1474-4422(21)00245-3.
<span class="bold">PMID: </span><a href="/pubmed/34687637" target="_blank">34687637</a><a href="/pmc/articles/PMC9387748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33783954">Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sheppard SE,
Campbell IM,
Harr MH,
Gold N,
Li D,
Bjornsson HT,
Cohen JS,
Fahrner JA,
Fatemi A,
Harris JR,
Nowak C,
Stevens CA,
Grand K,
Au M,
Graham JM Jr,
Sanchez-Lara PA,
Campo MD,
Jones MC,
Abdul-Rahman O,
Alkuraya FS,
Bassetti JA,
Bergstrom K,
Bhoj E,
Dugan S,
Kaplan JD,
Derar N,
Gripp KW,
Hauser N,
Innes AM,
Keena B,
Kodra N,
Miller R,
Nelson B,
Nowaczyk MJ,
Rahbeeni Z,
Ben-Shachar S,
Shieh JT,
Slavotinek A,
Sobering AK,
Abbott MA,
Allain DC,
Amlie-Wolf L,
Au PYB,
Bedoukian E,
Beek G,
Barry J,
Berg J,
Bernstein JA,
Cytrynbaum C,
Chung BH,
Donoghue S,
Dorrani N,
Eaton A,
Flores-Daboub JA,
Dubbs H,
Felix CA,
Fong CT,
Fung JLF,
Gangaram B,
Goldstein A,
Greenberg R,
Ha TK,
Hersh J,
Izumi K,
Kallish S,
Kravets E,
Kwok PY,
Jobling RK,
Knight Johnson AE,
Kushner J,
Lee BH,
Levin B,
Lindstrom K,
Manickam K,
Mardach R,
McCormick E,
McLeod DR,
Mentch FD,
Minks K,
Muraresku C,
Nelson SF,
Porazzi P,
Pichurin PN,
Powell-Hamilton NN,
Powis Z,
Ritter A,
Rogers C,
Rohena L,
Ronspies C,
Schroeder A,
Stark Z,
Starr L,
Stoler J,
Suwannarat P,
Velinov M,
Weksberg R,
Wilnai Y,
Zadeh N,
Zand DJ,
Falk MJ,
Hakonarson H,
Zackai EH,
Quintero-Rivera F</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2021 Jun;185(6):1649-1665.
Epub 2021 Mar 30
doi: 10.1002/ajmg.a.62124.
<span class="bold">PMID: </span><a href="/pubmed/33783954" target="_blank">33783954</a><a href="/pmc/articles/PMC8631250" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2020%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 (35)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34092403">Two cases of DYNC1H1 mutations with intractable epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Matsumoto A,
Kojima K,
Miya F,
Miyauchi A,
Watanabe K,
Iwamoto S,
Kawai K,
Kato M,
Takahashi Y,
Yamagata T</span><br />
<span class="medgenPMjournal">Brain Dev</span>
2021 Sep;43(8):857-862.
Epub 2021 Jun 3
doi: 10.1016/j.braindev.2021.05.005.
<span class="bold">PMID: </span><a href="/pubmed/34092403" target="_blank">34092403</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33338668">Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hetzelt KLML,
Kerling F,
Kraus C,
Rauch C,
Thiel CT,
Winterholler M,
Reis A,
Zweier C</span><br />
<span class="medgenPMjournal">Eur J Med Genet</span>
2021 Jan;64(1):104123.
Epub 2020 Dec 15
doi: 10.1016/j.ejmg.2020.104123.
<span class="bold">PMID: </span><a href="/pubmed/33338668" target="_blank">33338668</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31870441">Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gonda K,
Akama T,
Nakamura T,
Hashimoto E,
Kyoya N,
Rokkaku Y,
Maejima Y,
Horita S,
Tachibana K,
Abe N,
Ohtake T,
Shimomura K,
Kono K,
Saji S,
Takenoshita S,
Higashihara E</span><br />
<span class="medgenPMjournal">J Med Case Rep</span>
2019 Dec 24;13(1):381.
doi: 10.1186/s13256-019-2274-6.
<span class="bold">PMID: </span><a href="/pubmed/31870441" target="_blank">31870441</a><a href="/pmc/articles/PMC6929341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26063342">Court orders on procreation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Matevosyan NR</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2016 Jan;293(1):87-99.
Epub 2015 Jun 11
doi: 10.1007/s00404-015-3770-6.
<span class="bold">PMID: </span><a href="/pubmed/26063342" target="_blank">26063342</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2020%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39366843">Clinical and research application of fluid biomarkers in autosomal dominant Alzheimer's disease and Down syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Carmona-Iragui M,
O'Connor A,
Llibre-Guerra J,
Lao P,
Ashton NJ,
Fortea J,
Sánchez-Valle R</span><br />
<span class="medgenPMjournal">EBioMedicine</span>
2024 Oct;108:105327.
Epub 2024 Oct 3
doi: 10.1016/j.ebiom.2024.105327.
<span class="bold">PMID: </span><a href="/pubmed/39366843" target="_blank">39366843</a><a href="/pmc/articles/PMC11663788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38111042">A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng C,
Yang F,
Zhao S,
Chen X</span><br />
<span class="medgenPMjournal">BMC Med Genomics</span>
2023 Dec 18;16(1):331.
doi: 10.1186/s12920-023-01778-3.
<span class="bold">PMID: </span><a href="/pubmed/38111042" target="_blank">38111042</a><a href="/pmc/articles/PMC10729518" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33338668">Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hetzelt KLML,
Kerling F,
Kraus C,
Rauch C,
Thiel CT,
Winterholler M,
Reis A,
Zweier C</span><br />
<span class="medgenPMjournal">Eur J Med Genet</span>
2021 Jan;64(1):104123.
Epub 2020 Dec 15
doi: 10.1016/j.ejmg.2020.104123.
<span class="bold">PMID: </span><a href="/pubmed/33338668" target="_blank">33338668</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32031333">De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chilton I,
Okur V,
Vitiello G,
Selicorni A,
Mariani M,
Goldenberg A,
Husson T,
Campion D,
Lichtenbelt KD,
van Gassen K,
Steinraths M,
Rice J,
Roeder ER,
Littlejohn RO,
Srour M,
Sebire G,
Accogli A,
Héron D,
Heide S,
Nava C,
Depienne C,
Larson A,
Niyazov D,
Azage M,
Hoganson G,
Burton J,
Rush ET,
Jenkins JL,
Saunders CJ,
Thiffault I,
Alaimo JT,
Fleischer J,
Groepper D,
Gripp KW,
Chung WK</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2020 May;182(5):962-973.
Epub 2020 Feb 7
doi: 10.1002/ajmg.a.61505.
<span class="bold">PMID: </span><a href="/pubmed/32031333" target="_blank">32031333</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30536948">Tau PET Imaging for Staging of Alzheimer's Disease in Down Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rafii MS</span><br />
<span class="medgenPMjournal">Dev Neurobiol</span>
2019 Jul;79(7):711-715.
Epub 2018 Dec 16
doi: 10.1002/dneu.22658.
<span class="bold">PMID: </span><a href="/pubmed/30536948" target="_blank">30536948</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2020%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 (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39366843">Clinical and research application of fluid biomarkers in autosomal dominant Alzheimer's disease and Down syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Carmona-Iragui M,
O'Connor A,
Llibre-Guerra J,
Lao P,
Ashton NJ,
Fortea J,
Sánchez-Valle R</span><br />
<span class="medgenPMjournal">EBioMedicine</span>
2024 Oct;108:105327.
Epub 2024 Oct 3
doi: 10.1016/j.ebiom.2024.105327.
<span class="bold">PMID: </span><a href="/pubmed/39366843" target="_blank">39366843</a><a href="/pmc/articles/PMC11663788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36293418">Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miroševič Š,
Khandelwal S,
Sušjan P,
Žakelj N,
Gosar D,
Forstnerič V,
Lainšček D,
Jerala R,
Osredkar D</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2022 Oct 19;23(20)
doi: 10.3390/ijms232012564.
<span class="bold">PMID: </span><a href="/pubmed/36293418" target="_blank">36293418</a><a href="/pmc/articles/PMC9604177" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34358384">Clinical experience with non-invasive prenatal screening for single-gene disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
<span class="bold">PMID: </span><a href="/pubmed/34358384" target="_blank">34358384</a><a href="/pmc/articles/PMC9302116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33783954">Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sheppard SE,
Campbell IM,
Harr MH,
Gold N,
Li D,
Bjornsson HT,
Cohen JS,
Fahrner JA,
Fatemi A,
Harris JR,
Nowak C,
Stevens CA,
Grand K,
Au M,
Graham JM Jr,
Sanchez-Lara PA,
Campo MD,
Jones MC,
Abdul-Rahman O,
Alkuraya FS,
Bassetti JA,
Bergstrom K,
Bhoj E,
Dugan S,
Kaplan JD,
Derar N,
Gripp KW,
Hauser N,
Innes AM,
Keena B,
Kodra N,
Miller R,
Nelson B,
Nowaczyk MJ,
Rahbeeni Z,
Ben-Shachar S,
Shieh JT,
Slavotinek A,
Sobering AK,
Abbott MA,
Allain DC,
Amlie-Wolf L,
Au PYB,
Bedoukian E,
Beek G,
Barry J,
Berg J,
Bernstein JA,
Cytrynbaum C,
Chung BH,
Donoghue S,
Dorrani N,
Eaton A,
Flores-Daboub JA,
Dubbs H,
Felix CA,
Fong CT,
Fung JLF,
Gangaram B,
Goldstein A,
Greenberg R,
Ha TK,
Hersh J,
Izumi K,
Kallish S,
Kravets E,
Kwok PY,
Jobling RK,
Knight Johnson AE,
Kushner J,
Lee BH,
Levin B,
Lindstrom K,
Manickam K,
Mardach R,
McCormick E,
McLeod DR,
Mentch FD,
Minks K,
Muraresku C,
Nelson SF,
Porazzi P,
Pichurin PN,
Powell-Hamilton NN,
Powis Z,
Ritter A,
Rogers C,
Rohena L,
Ronspies C,
Schroeder A,
Stark Z,
Starr L,
Stoler J,
Suwannarat P,
Velinov M,
Weksberg R,
Wilnai Y,
Zadeh N,
Zand DJ,
Falk MJ,
Hakonarson H,
Zackai EH,
Quintero-Rivera F</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2021 Jun;185(6):1649-1665.
Epub 2021 Mar 30
doi: 10.1002/ajmg.a.62124.
<span class="bold">PMID: </span><a href="/pubmed/33783954" target="_blank">33783954</a><a href="/pmc/articles/PMC8631250" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32031333">De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chilton I,
Okur V,
Vitiello G,
Selicorni A,
Mariani M,
Goldenberg A,
Husson T,
Campion D,
Lichtenbelt KD,
van Gassen K,
Steinraths M,
Rice J,
Roeder ER,
Littlejohn RO,
Srour M,
Sebire G,
Accogli A,
Héron D,
Heide S,
Nava C,
Depienne C,
Larson A,
Niyazov D,
Azage M,
Hoganson G,
Burton J,
Rush ET,
Jenkins JL,
Saunders CJ,
Thiffault I,
Alaimo JT,
Fleischer J,
Groepper D,
Gripp KW,
Chung WK</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2020 May;182(5):962-973.
Epub 2020 Feb 7
doi: 10.1002/ajmg.a.61505.
<span class="bold">PMID: </span><a href="/pubmed/32031333" target="_blank">32031333</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2020%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 (29)</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/36293418">Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miroševič Š,
Khandelwal S,
Sušjan P,
Žakelj N,
Gosar D,
Forstnerič V,
Lainšček D,
Jerala R,
Osredkar D</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2022 Oct 19;23(20)
doi: 10.3390/ijms232012564.
<span class="bold">PMID: </span><a href="/pubmed/36293418" target="_blank">36293418</a><a href="/pmc/articles/PMC9604177" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2020%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
<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>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3150700%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (37)</a></li>
<li><a href="/gtr/tests?term=C3150700%5bDISCUI%5d&amp;filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
<li><a href="/gtr/tests?term=C3150700%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
<li><a href="/gtr/tests?term=C3150700%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (44)</a></li>
<li><a href="/gtr/tests?term=C3150700%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3150700%5bDISCUI%5d" target="_blank">See all (55)</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%20disability%2C%20autosomal%20dominant%2020)%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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