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<meta name="keywords" content="C1970822, disease or syndrome, intellectual developmental disorder, x-linked syndromic 14, x-linked recessive, intellectual developmental disorder, x-linked, syndromic 14, intellectual disability, x-linked, syndromic 14, intellectual disability, x-linked, syndromic type 14, mental retardation, x-linked, syndromic 14, mental retardation, x-linked, syndromic type 14, mrxs14, syndromic x-linked intellectual disability 14, syndromic x-linked intellectual disability type 14, upf3b, upf3b x-linked syndromic intellectual disability, x-linked syndromic intellectual disability caused by mutation in upf3b, 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="Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=372646
|
||
ConceptID=C1970822
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Syndromic X-linked intellectual disability 14<span class="h1sub">(MRXS14)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372646</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:">C1970822</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, X-LINKED, SYNDROMIC 14; MRXS14</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="UPF3B - ID: 65109 - NCBI Gene" href="/gene/65109" class="medgenPMinfo">UPF3B</a> (Xq24)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010398" target="_blank">MONDO:0010398</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300676" target="_blank">300676</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</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_154365"><div><strong>Long foot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154365</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.">C0576225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased back to front length of the foot.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154365">Feature record</a> | <a href="/medgen?term=%22Long%20foot%22%5BClinical%20Features%5D%20OR%20154365%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869005"><div><strong>Long palm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869005</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.">C4023422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869005">Feature record</a> | <a href="/medgen?term=%22Long%20palm%22%5BClinical%20Features%5D%20OR%20869005%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69137"><div><strong>Tall stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69137</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.">C0241240</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height above that which is expected according to age and gender norms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69137">Feature record</a> | <a href="/medgen?term=%22Tall%20stature%22%5BClinical%20Features%5D%20OR%2069137%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376828"><div><strong>Slender build</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376828</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.">C1850573</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376828">Feature record</a> | <a href="/medgen?term=%22Slender%20build%22%5BClinical%20Features%5D%20OR%20376828%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98325"><div><strong>Chronic constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98325</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.">C0401149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98325">Feature record</a> | <a href="/medgen?term=%22Chronic%20constipation%22%5BClinical%20Features%5D%20OR%2098325%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44042"><div><strong>Kyphosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44042</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.">C0022821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Exaggerated anterior convexity of the thoracic vertebral column.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44042">Feature record</a> | <a href="/medgen?term=%22Kyphosis%22%5BClinical%20Features%5D%20OR%2044042%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) 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_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57643"><div><strong>Pectus carinatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57643</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.">C0158731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57643">Feature record</a> | <a href="/medgen?term=%22Pectus%20carinatum%22%5BClinical%20Features%5D%20OR%2057643%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66804"><div><strong>Hypoplasia of the maxilla</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66804</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.">C0240310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66804">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20maxilla%22%5BClinical%20Features%5D%20OR%2066804%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96528"><div><strong>Narrow chest</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96528</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.">C0426790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96528">Feature record</a> | <a href="/medgen?term=%22Narrow%20chest%22%5BClinical%20Features%5D%20OR%2096528%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_781174"><div><strong>Pectus excavatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>781174</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.">C2051831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/781174">Feature record</a> | <a href="/medgen?term=%22Pectus%20excavatum%22%5BClinical%20Features%5D%20OR%20781174%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_99115"><div><strong>Hypernasal speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99115</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.">C0454555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99115">Feature record</a> | <a href="/medgen?term=%22Hypernasal%20speech%22%5BClinical%20Features%5D%20OR%2099115%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98316"><div><strong>Mandibular prognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98316</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.">C0399526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal prominence of the chin related to increased length of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98316">Feature record</a> | <a href="/medgen?term=%22Mandibular%20prognathia%22%5BClinical%20Features%5D%20OR%2098316%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324419"><div><strong>Long face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324419</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.">C1836047</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324419">Feature record</a> | <a href="/medgen?term=%22Long%20face%22%5BClinical%20Features%5D%20OR%20324419%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373291"><div><strong>Prominent forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373291</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.">C1837260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forward prominence of the entire forehead, due to protrusion of the frontal bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373291">Feature record</a> | <a href="/medgen?term=%22Prominent%20forehead%22%5BClinical%20Features%5D%20OR%20373291%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373334"><div><strong>Narrow face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373334</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.">C1837463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373334">Feature record</a> | <a href="/medgen?term=%22Narrow%20face%22%5BClinical%20Features%5D%20OR%20373334%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343051"><div><strong>Prominent nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343051</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.">C1854113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior positioning of the nasal root in comparison to the usual positioning for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343051">Feature record</a> | <a href="/medgen?term=%22Prominent%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20343051%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_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular prognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373334" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343051" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent nasal bridge</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_154365" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long foot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long palm</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_98325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic constipation</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_66804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the maxilla</a></span></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphosis</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96528" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow chest</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pectus carinatum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_781174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pectus excavatum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypernasal speech</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_376828" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slender build</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tall stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37628658">Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vilvarajan S,
|
||
McDonald M,
|
||
Douglas L,
|
||
Newham J,
|
||
Kirkland R,
|
||
Tzannes G,
|
||
Tay D,
|
||
Christodoulou J,
|
||
Thompson S,
|
||
Ellaway C</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Aug 11;14(8)
|
||
doi: 10.3390/genes14081607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37628658" target="_blank">37628658</a><a href="/pmc/articles/PMC10454341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33081534">Repurposing elesclomol, an investigational drug for the treatment of copper metabolism disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gohil VM</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Investig Drugs</span>
|
||
2021 Jan;30(1):1-4.
|
||
Epub 2020 Nov 5
|
||
doi: 10.1080/13543784.2021.1840550.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33081534" target="_blank">33081534</a><a href="/pmc/articles/PMC7855837" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16763963">A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donzel-Javouhey A,
|
||
Thauvin-Robinet C,
|
||
Cusin V,
|
||
Madinier N,
|
||
Manceau E,
|
||
Dipanda D,
|
||
Dulieu V,
|
||
Mugneret F,
|
||
Huet F,
|
||
Teyssier JR,
|
||
Faivre L</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2006 Jul 15;140(14):1603-7.
|
||
doi: 10.1002/ajmg.a.31314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16763963" target="_blank">16763963</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(syndromic%20x-linked%20intellectual%20disability%2014)%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 (48)</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/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan CN,
|
||
Musolino PL,
|
||
Lund TC,
|
||
Gupta AO,
|
||
De Oliveira S,
|
||
Thrasher AJ,
|
||
Aubourg P,
|
||
Kühl JS,
|
||
Loes DJ,
|
||
Amartino H,
|
||
Smith N,
|
||
Folloni Fernandes J,
|
||
Sevin C,
|
||
Sankar R,
|
||
Hussain SA,
|
||
Gissen P,
|
||
Dalle JH,
|
||
Platzbecker U,
|
||
Downey GF,
|
||
McNeil E,
|
||
Demopoulos L,
|
||
Dietz AC,
|
||
Thakar HL,
|
||
Orchard PJ,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1302-1312.
|
||
doi: 10.1056/NEJMoa2400442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39383458">Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duncan CN,
|
||
Bledsoe JR,
|
||
Grzywacz B,
|
||
Beckman A,
|
||
Bonner M,
|
||
Eichler FS,
|
||
Kühl JS,
|
||
Harris MH,
|
||
Slauson S,
|
||
Colvin RA,
|
||
Prasad VK,
|
||
Downey GF,
|
||
Pierciey FJ,
|
||
Kinney MA,
|
||
Foos M,
|
||
Lodaya A,
|
||
Floro N,
|
||
Parsons G,
|
||
Dietz AC,
|
||
Gupta AO,
|
||
Orchard PJ,
|
||
Thakar HL,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1287-1301.
|
||
doi: 10.1056/NEJMoa2405541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383458" target="_blank">39383458</a><a href="/pmc/articles/PMC11846662" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37628658">Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vilvarajan S,
|
||
McDonald M,
|
||
Douglas L,
|
||
Newham J,
|
||
Kirkland R,
|
||
Tzannes G,
|
||
Tay D,
|
||
Christodoulou J,
|
||
Thompson S,
|
||
Ellaway C</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Aug 11;14(8)
|
||
doi: 10.3390/genes14081607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37628658" target="_blank">37628658</a><a href="/pmc/articles/PMC10454341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37443362">Discovering functionally important sites in proteins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cagiada M,
|
||
Bottaro S,
|
||
Lindemose S,
|
||
Schenstrøm SM,
|
||
Stein A,
|
||
Hartmann-Petersen R,
|
||
Lindorff-Larsen K</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2023 Jul 13;14(1):4175.
|
||
doi: 10.1038/s41467-023-39909-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37443362" target="_blank">37443362</a><a href="/pmc/articles/PMC10345196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17331881">Trinucleotide repeat disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lutz RE</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2007 Mar;14(1):26-33.
|
||
doi: 10.1016/j.spen.2006.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17331881" target="_blank">17331881</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20X-linked%20intellectual%20disability%2014%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 (293)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan CN,
|
||
Musolino PL,
|
||
Lund TC,
|
||
Gupta AO,
|
||
De Oliveira S,
|
||
Thrasher AJ,
|
||
Aubourg P,
|
||
Kühl JS,
|
||
Loes DJ,
|
||
Amartino H,
|
||
Smith N,
|
||
Folloni Fernandes J,
|
||
Sevin C,
|
||
Sankar R,
|
||
Hussain SA,
|
||
Gissen P,
|
||
Dalle JH,
|
||
Platzbecker U,
|
||
Downey GF,
|
||
McNeil E,
|
||
Demopoulos L,
|
||
Dietz AC,
|
||
Thakar HL,
|
||
Orchard PJ,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1302-1312.
|
||
doi: 10.1056/NEJMoa2400442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37628658">Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vilvarajan S,
|
||
McDonald M,
|
||
Douglas L,
|
||
Newham J,
|
||
Kirkland R,
|
||
Tzannes G,
|
||
Tay D,
|
||
Christodoulou J,
|
||
Thompson S,
|
||
Ellaway C</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Aug 11;14(8)
|
||
doi: 10.3390/genes14081607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37628658" target="_blank">37628658</a><a href="/pmc/articles/PMC10454341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34764130">Hurler holes in Hunter syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma R,
|
||
Sharma V,
|
||
Tiwari T,
|
||
Goyal S</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2021 Nov 11;14(11)
|
||
doi: 10.1136/bcr-2021-246765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34764130" target="_blank">34764130</a><a href="/pmc/articles/PMC8587361" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25192506">Genetic cerebellar ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Storey E</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2014 Jul;34(3):280-92.
|
||
Epub 2014 Sep 5
|
||
doi: 10.1055/s-0034-1386766.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25192506" target="_blank">25192506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24700618">Epidemiology of fragile X syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hunter J,
|
||
Rivero-Arias O,
|
||
Angelov A,
|
||
Kim E,
|
||
Fotheringham I,
|
||
Leal J</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Jul;164A(7):1648-58.
|
||
Epub 2014 Apr 3
|
||
doi: 10.1002/ajmg.a.36511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24700618" target="_blank">24700618</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20X-linked%20intellectual%20disability%2014%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 (357)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan CN,
|
||
Musolino PL,
|
||
Lund TC,
|
||
Gupta AO,
|
||
De Oliveira S,
|
||
Thrasher AJ,
|
||
Aubourg P,
|
||
Kühl JS,
|
||
Loes DJ,
|
||
Amartino H,
|
||
Smith N,
|
||
Folloni Fernandes J,
|
||
Sevin C,
|
||
Sankar R,
|
||
Hussain SA,
|
||
Gissen P,
|
||
Dalle JH,
|
||
Platzbecker U,
|
||
Downey GF,
|
||
McNeil E,
|
||
Demopoulos L,
|
||
Dietz AC,
|
||
Thakar HL,
|
||
Orchard PJ,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1302-1312.
|
||
doi: 10.1056/NEJMoa2400442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39383458">Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duncan CN,
|
||
Bledsoe JR,
|
||
Grzywacz B,
|
||
Beckman A,
|
||
Bonner M,
|
||
Eichler FS,
|
||
Kühl JS,
|
||
Harris MH,
|
||
Slauson S,
|
||
Colvin RA,
|
||
Prasad VK,
|
||
Downey GF,
|
||
Pierciey FJ,
|
||
Kinney MA,
|
||
Foos M,
|
||
Lodaya A,
|
||
Floro N,
|
||
Parsons G,
|
||
Dietz AC,
|
||
Gupta AO,
|
||
Orchard PJ,
|
||
Thakar HL,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1287-1301.
|
||
doi: 10.1056/NEJMoa2405541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383458" target="_blank">39383458</a><a href="/pmc/articles/PMC11846662" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34679181">Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Geest FS,
|
||
Groeneweg S,
|
||
van den Akker ELT,
|
||
Bacos I,
|
||
Barca D,
|
||
van den Berg SAA,
|
||
Bertini E,
|
||
Brunner D,
|
||
Brunetti-Pierri N,
|
||
Cappa M,
|
||
Cappuccio G,
|
||
Chatterjee K,
|
||
Chesover AD,
|
||
Christian P,
|
||
Coutant R,
|
||
Craiu D,
|
||
Crock P,
|
||
Dewey C,
|
||
Dica A,
|
||
Dimitri P,
|
||
Dubey R,
|
||
Enderli A,
|
||
Fairchild J,
|
||
Gallichan J,
|
||
Garibaldi LR,
|
||
George B,
|
||
Hackenberg A,
|
||
Heinrich B,
|
||
Huynh T,
|
||
Kłosowska A,
|
||
Lawson-Yuen A,
|
||
Linder-Lucht M,
|
||
Lyons G,
|
||
Monti Lora F,
|
||
Moran C,
|
||
Müller KE,
|
||
Paone L,
|
||
Paul PG,
|
||
Polak M,
|
||
Porta F,
|
||
Reinauer C,
|
||
de Rijke YB,
|
||
Seckold R,
|
||
Menevşe TS,
|
||
Simm P,
|
||
Simon A,
|
||
Spada M,
|
||
Stoupa A,
|
||
Szeifert L,
|
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Tonduti D,
|
||
van Toor H,
|
||
Turan S,
|
||
Vanderniet J,
|
||
de Waart M,
|
||
van der Wal R,
|
||
van der Walt A,
|
||
van Wermeskerken AM,
|
||
Wierzba J,
|
||
Zibordi F,
|
||
Zung A,
|
||
Peeters RP,
|
||
Visser WE</span><br />
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Breese GR,
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<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
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Duncan CN,
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Douglas L,
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<span class="bold">PMID: </span><a href="/pubmed/37628658" target="_blank">37628658</a><a href="/pmc/articles/PMC10454341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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Schenstrøm SM,
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2023 Jul 13;14(1):4175.
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<div class="nl"><a target="_blank" href="/pubmed/18971887">X-linked mental retardation.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20X-linked%20intellectual%20disability%2014%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 (113)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
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Duncan CN,
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Musolino PL,
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Lund TC,
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Gupta AO,
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De Oliveira S,
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Thrasher AJ,
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Aubourg P,
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Kühl JS,
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Loes DJ,
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Amartino H,
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Smith N,
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Folloni Fernandes J,
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Sevin C,
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Sankar R,
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Hussain SA,
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Gissen P,
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Dalle JH,
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Platzbecker U,
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Downey GF,
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McNeil E,
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Demopoulos L,
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Dietz AC,
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Thakar HL,
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Orchard PJ,
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Williams DA</span><br />
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<span class="medgenPMjournal">N Engl J Med</span>
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2024 Oct 10;391(14):1302-1312.
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<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37628658">Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vilvarajan S,
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McDonald M,
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Douglas L,
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Newham J,
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Kirkland R,
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Tzannes G,
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Tay D,
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Christodoulou J,
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Thompson S,
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Ellaway C</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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2023 Aug 11;14(8)
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doi: 10.3390/genes14081607.
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<span class="bold">PMID: </span><a href="/pubmed/37628658" target="_blank">37628658</a><a href="/pmc/articles/PMC10454341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36833172">Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bjerregaard VA,
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Levy AM,
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Batz MS,
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2023 Jan 17;14(2)
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<span class="bold">PMID: </span><a href="/pubmed/36833172" target="_blank">36833172</a><a href="/pmc/articles/PMC9957531" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29180823">HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.</a></div>
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Houge G,
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|
||
<div class="nl"><a target="_blank" href="/pubmed/24700618">Epidemiology of fragile X syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hunter J,
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Rivero-Arias O,
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Angelov A,
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Kim E,
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Fotheringham I,
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Leal J</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2014 Jul;164A(7):1648-58.
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Epub 2014 Apr 3
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doi: 10.1002/ajmg.a.36511.
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<span class="bold">PMID: </span><a href="/pubmed/24700618" target="_blank">24700618</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20X-linked%20intellectual%20disability%2014%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 (257)</a></div></div>
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||
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||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39429113">Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Galán-Olleros M,
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González-Alguacil E,
|
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Soto-Insuga V,
|
||
Vara-Arias MT,
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||
Ortiz-Cabrera NV,
|
||
Egea-Gámez RM,
|
||
García-Peñas JJ,
|
||
Martínez-Caballero I;
|
||
RTT‐HNJ, Rett Syndrome Multidisciplinary Group of Hospital Infantil Universitario Niño Jesús</span><br />
|
||
<span class="medgenPMjournal">J Intellect Disabil Res</span>
|
||
2024 Dec;68(12):1331-1343.
|
||
Epub 2024 Oct 21
|
||
doi: 10.1111/jir.13193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39429113" target="_blank">39429113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34294028">Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marlborough M,
|
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Welham A,
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Jones C,
|
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Reckless S,
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Moss J</span><br />
|
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<span class="medgenPMjournal">J Neurodev Disord</span>
|
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2021 Jul 23;13(1):28.
|
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doi: 10.1186/s11689-021-09362-5.
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<span class="bold">PMID: </span><a href="/pubmed/34294028" target="_blank">34294028</a><a href="/pmc/articles/PMC8299695" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24700618">Epidemiology of fragile X syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hunter J,
|
||
Rivero-Arias O,
|
||
Angelov A,
|
||
Kim E,
|
||
Fotheringham I,
|
||
Leal J</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Jul;164A(7):1648-58.
|
||
Epub 2014 Apr 3
|
||
doi: 10.1002/ajmg.a.36511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24700618" target="_blank">24700618</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19822023">Systematic review of pharmacological treatments in fragile X syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rueda JR,
|
||
Ballesteros J,
|
||
Tejada MI</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
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2009 Oct 13;9:53.
|
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doi: 10.1186/1471-2377-9-53.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19822023" target="_blank">19822023</a><a href="/pmc/articles/PMC2770029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20X-linked%20intellectual%20disability%2014%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1970822%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C1970822%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C1970822%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1970822%5bDISCUI%5d" target="_blank">See all (22)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300676" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Syndromic%20X-linked%20intellectual%20disability%2014" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(syndromic%20x-linked%20intellectual%20disability%2014)%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=300298" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=65109[geneid]" target="_blank">View UPF3B variations in ClinVar</a></li><li><a href="/nuccore/219521885" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=300676" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<a href="/pubmed/clinical?term=Syndromic%20X-linked%20intellectual%20disability%2014" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca7cb584f3725e59bb24e4">Syndromic X-linked intellectual disability 14</a>
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<div class="ralinkpop offscreen_noflow">Syndromic X-linked intellectual disability 14<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca7cb384f3725e59bb1825">C1970822[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca7cb2f4a390645ec8ff67">C0406775[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(1305)</span></a>
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<div class="ralinkpop offscreen_noflow">C0406775[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca7cb1f4a390645ec8f8dd">Symmetrical dyschromatosis of extremities</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ca7cb0a68b6b5afcf2c7de">C1837065[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(185)</span></a>
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<div class="ralinkpop offscreen_noflow">C1837065[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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