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<meta name="keywords" content="C0751157, aff2, disease or syndrome, fragile site, folic acid type, fragile x-f mental retardation syndrome, fragile xe syndrome, fraxe, fraxe intellectual disability, fraxe intellectual disability syndrome, fraxe mental retardation syndrome, fraxe syndrome, fraxe syndromes, intellectual developmental disorder, x-linked 109, intellectual developmental disorder, x-linked 109, x-linked recessive, intellectual disability associated with fragile site fraxe, intellectual disability, x-linked, associated with fragile site fraxe, intellectual disability, x-linked, fraxe type, mar (x) syndrome, mental retardation, x-linked 109, mental retardation, x-linked, associated with fragile site fraxe, mrx109, syndrome, fraxe, syndromes, fraxe, x-linked intellectual disability associated with fragile site fraxe, x-linked mental retardation associated with fragile site fraxe, xlid109, 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="Intellectual developmental disorder-109 (MRX109) is characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). The disorder, which is associated with a fragile site on chromosome Xq28 (FRAXE), can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene (Stettner et al., 2011)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=155512
|
||
ConceptID=C0751157
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">FRAXE<span class="h1sub">(MRX109; XLID109)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155512</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:">C0751157</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>Fragile XE syndrome; FRAXE intellectual disability; FRAXE Syndrome; Intellectual developmental disorder, X-linked 109; Intellectual disability, X-linked, FRAXE type</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></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="AFF2 - ID: 2334 - NCBI Gene" href="/gene/2334" class="medgenPMinfo">AFF2</a> (Xq28)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010659" target="_blank">MONDO:0010659</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/309548" target="_blank">309548</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100973">ORPHA100973</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_100">
|
||
<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">Intellectual developmental disorder-109 (MRX109) is characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). The disorder, which is associated with a fragile site on chromosome Xq28 (FRAXE), can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene (Stettner et al., 2011). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Most affected individuals have mild intellectual disabilities. In some people with this condition, cognitive function is described as borderline, which means that it is below average but not low enough to be classified as an intellectual disability. Individuals with two X chromosomes (typical for females) are rarely diagnosed with fragile XE syndrome, likely because the signs and symptoms are so mild, if present at all.<br /><br />Learning disabilities are the most common sign of impaired cognitive function in people with fragile XE syndrome. The learning disabilities are likely a result of communication and behavioral problems, including delayed speech, poor writing skills, hyperactivity, and a short attention span. Some affected individuals display autistic behaviors, such as hand flapping, repetitive behaviors, and intense interest in a particular subject. Unlike some other forms of intellectual disability, cognitive functioning remains steady and does not decline with age in fragile XE syndrome. <a target="_blank" href="https://medlineplus.gov/genetics/condition/fragile-xe-syndrome">https://medlineplus.gov/genetics/condition/fragile-xe-syndrome</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_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</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.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43850"><div><strong>Impulsivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43850</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.">C0021125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43850">Feature record</a> | <a href="/medgen?term=%22Impulsivity%22%5BClinical%20Features%5D%20OR%2043850%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88447"><div><strong>Agitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88447</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.">C0085631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88447">Feature record</a> | <a href="/medgen?term=%22Agitation%22%5BClinical%20Features%5D%20OR%2088447%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98406"><div><strong>Hyperactivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98406</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.">C0424295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98406">Feature record</a> | <a href="/medgen?term=%22Hyperactivity%22%5BClinical%20Features%5D%20OR%2098406%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107874"><div><strong>Poor coordination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107874</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.">C0563243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107874">Feature record</a> | <a href="/medgen?term=%22Poor%20coordination%22%5BClinical%20Features%5D%20OR%20107874%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_109373"><div><strong>Compulsive behaviors</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>109373</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.">C0600104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/109373">Feature record</a> | <a href="/medgen?term=%22Compulsive%20behaviors%22%5BClinical%20Features%5D%20OR%20109373%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_867996"><div><strong>Recurrent hand flapping</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867996</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.">C4022387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867996">Feature record</a> | <a href="/medgen?term=%22Recurrent%20hand%20flapping%22%5BClinical%20Features%5D%20OR%20867996%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868614"><div><strong>Stereotypical body rocking</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868614</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.">C4023013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Habitual repetitive movement of the entire body, front to back or side to side.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868614">Feature record</a> | <a href="/medgen?term=%22Stereotypical%20body%20rocking%22%5BClinical%20Features%5D%20OR%20868614%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5602"><div><strong>Hoarse voice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5602</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.">C0019825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5602">Feature record</a> | <a href="/medgen?term=%22Hoarse%20voice%22%5BClinical%20Features%5D%20OR%205602%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_151862"><div><strong>Epicanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151862</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.">C0678230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/151862">Feature record</a> | <a href="/medgen?term=%22Epicanthus%22%5BClinical%20Features%5D%20OR%20151862%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332232"><div><strong>Thick vermilion border</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332232</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.">C1836543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased width of the skin of vermilion border region of upper lip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332232">Feature record</a> | <a href="/medgen?term=%22Thick%20vermilion%20border%22%5BClinical%20Features%5D%20OR%20332232%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="divPopper rprt" id="clin_462845"><div><strong>Long upper lip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462845</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.">C3151495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased width of the upper lip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462845">Feature record</a> | <a href="/medgen?term=%22Long%20upper%20lip%22%5BClinical%20Features%5D%20OR%20462845%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5164"><div><strong>Fetal distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5164</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.">C0015930</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5164">Feature record</a> | <a href="/medgen?term=%22Fetal%20distress%22%5BClinical%20Features%5D%20OR%205164%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_151862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epicanthus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_462845" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long upper lip</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick vermilion border</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal distress</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_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</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_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agitation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_109373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Compulsive behaviors</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperactivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43850" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impulsivity</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_107874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor coordination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent hand flapping</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868614" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stereotypical body rocking</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_5602" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hoarse voice</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_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34111553">Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu T,
|
||
Wang FS,
|
||
Cheah FSH,
|
||
Gu Y,
|
||
Shaw M,
|
||
Law HY,
|
||
Tay SKH,
|
||
Lee CG,
|
||
Nelson DL,
|
||
Gecz J,
|
||
Chong SS</span><br />
|
||
<span class="medgenPMjournal">J Mol Diagn</span>
|
||
2021 Aug;23(8):941-951.
|
||
Epub 2021 Jun 7
|
||
doi: 10.1016/j.jmoldx.2021.04.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34111553" target="_blank">34111553</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12806492">Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steiner CE,
|
||
Guerreiro MM,
|
||
Marques-de-Faria AP</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2003 Jun;61(2A):176-80.
|
||
Epub 2003 Jun 9
|
||
doi: 10.1590/s0004-282x2003000200003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12806492" target="_blank">12806492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12840860">A rapid screening and diagnosis on fragile X syndrome by PCR.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen J,
|
||
Yang A,
|
||
Fei H,
|
||
Jin R,
|
||
He M,
|
||
Wang B</span><br />
|
||
<span class="medgenPMjournal">J Tongji Med Univ</span>
|
||
1999;19(2):145-8.
|
||
doi: 10.1007/BF02886897.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12840860" target="_blank">12840860</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fraxe%22%5Btiab%3A~0%5D)%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 (4)</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/18078840">Human chromosome fragility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lukusa T,
|
||
Fryns JP</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2008 Jan;1779(1):3-16.
|
||
Epub 2007 Dec 3
|
||
doi: 10.1016/j.bbagrm.2007.10.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18078840" target="_blank">18078840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17567780">Fragile sites and human disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Debacker K,
|
||
Kooy RF</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2007 Oct 15;16 Spec No. 2:R150-8.
|
||
Epub 2007 Jun 13
|
||
doi: 10.1093/hmg/ddm136.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17567780" target="_blank">17567780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12537661">Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pandey UB,
|
||
Phadke S,
|
||
Mittal B</span><br />
|
||
<span class="medgenPMjournal">Genet Test</span>
|
||
2002 Winter;6(4):335-9.
|
||
doi: 10.1089/10906570260471903.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12537661" target="_blank">12537661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10528856">Microdeletions in FMR2 may be a significant cause of premature ovarian failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murray A,
|
||
Webb J,
|
||
Dennis N,
|
||
Conway G,
|
||
Morton N</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1999 Oct;36(10):767-70.
|
||
doi: 10.1136/jmg.36.10.767.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10528856" target="_blank">10528856</a><a href="/pmc/articles/PMC1734234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8844098">Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meadows KL,
|
||
Pettay D,
|
||
Newman J,
|
||
Hersey J,
|
||
Ashley AE,
|
||
Sherman SL</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1996 Aug 9;64(2):428-33.
|
||
doi: 10.1002/(SICI)1096-8628(19960809)64:2<428::AID-AJMG39>3.0.CO;2-F.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8844098" target="_blank">8844098</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22FRAXE%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 (35)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/18078840">Human chromosome fragility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lukusa T,
|
||
Fryns JP</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2008 Jan;1779(1):3-16.
|
||
Epub 2007 Dec 3
|
||
doi: 10.1016/j.bbagrm.2007.10.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18078840" target="_blank">18078840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14526166">Rare fragile sites.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sutherland GR</span><br />
|
||
<span class="medgenPMjournal">Cytogenet Genome Res</span>
|
||
2003;100(1-4):77-84.
|
||
doi: 10.1159/000072840.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14526166" target="_blank">14526166</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12537661">Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pandey UB,
|
||
Phadke S,
|
||
Mittal B</span><br />
|
||
<span class="medgenPMjournal">Genet Test</span>
|
||
2002 Winter;6(4):335-9.
|
||
doi: 10.1089/10906570260471903.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12537661" target="_blank">12537661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9415475">Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ritchie RJ,
|
||
Chakrabarti L,
|
||
Knight SJ,
|
||
Harding RM,
|
||
Davies KE</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1997 Dec 31;73(4):463-9.
|
||
doi: 10.1002/(sici)1096-8628(19971231)73:4<463::aid-ajmg16>3.0.co;2-p.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9415475" target="_blank">9415475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8023854">Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knight SJ,
|
||
Voelckel MA,
|
||
Hirst MC,
|
||
Flannery AV,
|
||
Moncla A,
|
||
Davies KE</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1994 Jul;55(1):81-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8023854" target="_blank">8023854</a><a href="/pmc/articles/PMC1918210" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22FRAXE%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 (51)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/17506108">Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Probst FJ,
|
||
Roeder ER,
|
||
Enciso VB,
|
||
Ou Z,
|
||
Cooper ML,
|
||
Eng P,
|
||
Li J,
|
||
Gu Y,
|
||
Stratton RF,
|
||
Chinault AC,
|
||
Shaw CA,
|
||
Sutton VR,
|
||
Cheung SW,
|
||
Nelson DL</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2007 Jun 15;143A(12):1358-65.
|
||
doi: 10.1002/ajmg.a.31781.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17506108" target="_blank">17506108</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9523214">FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syrrou M,
|
||
Georgiou I,
|
||
Grigoriadou M,
|
||
Petersen MB,
|
||
Kitsiou S,
|
||
Pagoulatos G,
|
||
Patsalis PC</span><br />
|
||
<span class="medgenPMjournal">Genet Epidemiol</span>
|
||
1998;15(1):103-9.
|
||
doi: 10.1002/(SICI)1098-2272(1998)15:1<103::AID-GEPI8>3.0.CO;2-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9523214" target="_blank">9523214</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8755928">Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Subramanian PS,
|
||
Nelson DL,
|
||
Chinault AC</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1996 Aug;59(2):407-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8755928" target="_blank">8755928</a><a href="/pmc/articles/PMC1914744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8105267">Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Q,
|
||
Green E,
|
||
Barnicoat A,
|
||
Garrett D,
|
||
Mullarkey M,
|
||
Bobrow M,
|
||
Mathew CG</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1993 Oct 23;342(8878):1025-6.
|
||
doi: 10.1016/0140-6736(93)92882-t.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8105267" target="_blank">8105267</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22FRAXE%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/24763282">FRA2A is a CGG repeat expansion associated with silencing of AFF3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Metsu S,
|
||
Rooms L,
|
||
Rainger J,
|
||
Taylor MS,
|
||
Bengani H,
|
||
Wilson DI,
|
||
Chilamakuri CS,
|
||
Morrison H,
|
||
Vandeweyer G,
|
||
Reyniers E,
|
||
Douglas E,
|
||
Thompson G,
|
||
Haan E,
|
||
Gecz J,
|
||
Fitzpatrick DR,
|
||
Kooy RF</span><br />
|
||
<span class="medgenPMjournal">PLoS Genet</span>
|
||
2014 Apr;10(4):e1004242.
|
||
Epub 2014 Apr 24
|
||
doi: 10.1371/journal.pgen.1004242.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24763282" target="_blank">24763282</a><a href="/pmc/articles/PMC3998887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9534118">Prevalence of fragile-X syndrome and FRAXE among children with intellectual disability in a Caribbean island, Guadeloupe, French West Indies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elbaz A,
|
||
Suédois J,
|
||
Duquesnoy M,
|
||
Beldjord C,
|
||
Berchel C,
|
||
Mérault G</span><br />
|
||
<span class="medgenPMjournal">J Intellect Disabil Res</span>
|
||
1998 Feb;42 ( Pt 1):81-9.
|
||
doi: 10.1046/j.1365-2788.1998.00064.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9534118" target="_blank">9534118</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9415475">Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ritchie RJ,
|
||
Chakrabarti L,
|
||
Knight SJ,
|
||
Harding RM,
|
||
Davies KE</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1997 Dec 31;73(4):463-9.
|
||
doi: 10.1002/(sici)1096-8628(19971231)73:4<463::aid-ajmg16>3.0.co;2-p.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9415475" target="_blank">9415475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9061751">Fragile X syndrome and fragile XE mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sutherland GR,
|
||
Mulley JC</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1996 Dec;16(13):1199-211.
|
||
doi: 10.1002/(SICI)1097-0223(199612)16:13<1199::AID-PD95>3.0.CO;2-T.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9061751" target="_blank">9061751</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8844098">Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meadows KL,
|
||
Pettay D,
|
||
Newman J,
|
||
Hersey J,
|
||
Ashley AE,
|
||
Sherman SL</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1996 Aug 9;64(2):428-33.
|
||
doi: 10.1002/(SICI)1096-8628(19960809)64:2<428::AID-AJMG39>3.0.CO;2-F.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8844098" target="_blank">8844098</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22FRAXE%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24763282">FRA2A is a CGG repeat expansion associated with silencing of AFF3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Metsu S,
|
||
Rooms L,
|
||
Rainger J,
|
||
Taylor MS,
|
||
Bengani H,
|
||
Wilson DI,
|
||
Chilamakuri CS,
|
||
Morrison H,
|
||
Vandeweyer G,
|
||
Reyniers E,
|
||
Douglas E,
|
||
Thompson G,
|
||
Haan E,
|
||
Gecz J,
|
||
Fitzpatrick DR,
|
||
Kooy RF</span><br />
|
||
<span class="medgenPMjournal">PLoS Genet</span>
|
||
2014 Apr;10(4):e1004242.
|
||
Epub 2014 Apr 24
|
||
doi: 10.1371/journal.pgen.1004242.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24763282" target="_blank">24763282</a><a href="/pmc/articles/PMC3998887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9415475">Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ritchie RJ,
|
||
Chakrabarti L,
|
||
Knight SJ,
|
||
Harding RM,
|
||
Davies KE</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1997 Dec 31;73(4):463-9.
|
||
doi: 10.1002/(sici)1096-8628(19971231)73:4<463::aid-ajmg16>3.0.co;2-p.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9415475" target="_blank">9415475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8755928">Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Subramanian PS,
|
||
Nelson DL,
|
||
Chinault AC</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1996 Aug;59(2):407-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8755928" target="_blank">8755928</a><a href="/pmc/articles/PMC1914744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8162055">Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hummerich H,
|
||
Baxendale S,
|
||
Mott R,
|
||
Kirby SF,
|
||
MacDonald ME,
|
||
Gusella J,
|
||
Lehrach H,
|
||
Bates GP</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1994 Jan;3(1):73-8.
|
||
doi: 10.1093/hmg/3.1.73.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8162055" target="_blank">8162055</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8031305">Trinucleotide repeat expansions and human genetic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bates G,
|
||
Lehrach H</span><br />
|
||
<span class="medgenPMjournal">Bioessays</span>
|
||
1994 Apr;16(4):277-84.
|
||
doi: 10.1002/bies.950160411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8031305" target="_blank">8031305</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22FRAXE%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 (37)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0751157%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751157%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751157%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751157%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751157%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0751157%5bDISCUI%5d" target="_blank">See all (16)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=309548" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=100973" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=FRAXE" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fraxe%22%5Btiab%3A~0%5D)%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=300806" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2334[geneid]" target="_blank">View AFF2 variations in ClinVar</a></li><li><a href="/nuccore/283837764" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=309548" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Fragile+XE+Syndrome/2911" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/intellectual_developmental_disorder_x_linked_109" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=FRAXE" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/fragile-xe-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2378/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=FRAXE" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=FRAXE%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=155512" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=155512" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0751157[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0751157[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=155512" ref="log$=recordlinks">MeSH</a>
|
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=155512" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=155512" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=155512" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=155512" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=155512" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
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|
||
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|
||
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|
||
|
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|
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<div class="action">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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||
Clear
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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Turn On
|
||
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|
||
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|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc385184f3725e5983448d">FRAXE</a>
|
||
<div class="ralinkpop offscreen_noflow">FRAXE<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc3850f4a390645e877ed0">C0751157[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
|
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|
||
<li class="ra_qry ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc3850f4a390645e877c9a">C1845546[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(3)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C1845546[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc384ff4a390645e877be2">FG syndrome 4</a>
|
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<div class="ralinkpop offscreen_noflow">FG syndrome 4<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc384db15b832ebc3eb325">C1845546[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
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|
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<p class="HTOff">Activity recording is turned off.</p>
|
||
<p id="turnOn" class="HTOff">
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
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|
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|
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