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<meta name="keywords" content="C0016667, disease or syndrome, fmr1, fra(x) syndrome, fragile 10 intellectual disability syndrome, fragile 10 mental retardation syndrome, fragile 10 premature ovarian failure, fragile 10 syndrome, fragile x intellectual disability syndrome, fragile x mental retardation syndrome, fragile x syndrome, fragile x syndrome, type a, fragile x syndrome, x-linked dominant, fragile x syndromes, frax syndrome, fraxa (fragile x) syndrome, fraxa syndrome, fxs, intellectual disability, x-linked, associated with marxq28, marker 10 syndrome, marker x syndrome, marker x syndromes, martin bell syndrome, martin-bell syndrome, mental retardation, x-linked, associated with marxq28, primary ovarian insufficiency, fragile x-associated, syndrome, fragile x, syndrome, marker x, syndrome, martin-bell, syndromes, fragile x, syndromes, marker x, x linked mental retardation and macroorchidism, x-linked intellectual disability and macroorchidism, x-linked mental retardation and macroorchidism, 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="FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. Autism spectrum disorder is present in 50%-70% of individuals with FXS. Affected males may have characteristic craniofacial features (which become more obvious with age) and medical problems including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, pes planus, scoliosis, and recurrent otitis media. Adults may have mitral valve prolapse or aortic root dilatation. The physical and behavioral features seen in males with FXS have been reported in females heterozygous for the FMR1 full mutation, but with lower frequency and milder involvement. FXTAS occurs in individuals who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive impairment. Psychiatric disorders are common. Age of onset is typically between 60 and 65 years and is more common among males who are hemizygous for the premutation (40%) than among females who are heterozygous for the premutation (16%-20%). FXPOI, defined as hypergonadotropic hypogonadism before age 40 years, has been observed in 20% of women who carry a premutation allele compared to 1% in the general population." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=8912
ConceptID=C0016667
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Fragile X syndrome<span class="h1sub">(FXS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8912</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0016667</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>Fra(X) syndrome; Fragile X syndrome, type A; MARKER X SYNDROME; MARTIN-BELL SYNDROME; MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28; X-LINKED MENTAL RETARDATION AND MACROORCHIDISM</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Fragile X syndrome (613003); Martin-Bell syndrome (613003); Marker X syndrome (613003); FRAXA (fragile X) syndrome (613003)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_376232"><div><strong>X-linked dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1847879</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 dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376232">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_376232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked dominant 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="FMR1 - ID: 2332 - NCBI Gene" href="/gene/2332" class="medgenPMinfo">FMR1</a> (Xq27.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0010383" target="_blank">MONDO:0010383</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/300624" target="_blank">300624</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&amp;Expert=908">ORPHA908</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1384" target="_blank">FMR1 Disorders</a></div><div>FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. Autism spectrum disorder is present in 50%-70% of individuals with FXS. Affected males may have characteristic craniofacial features (which become more obvious with age) and medical problems including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, pes planus, scoliosis, and recurrent otitis media. Adults may have mitral valve prolapse or aortic root dilatation. The physical and behavioral features seen in males with FXS have been reported in females heterozygous for the FMR1 full mutation, but with lower frequency and milder involvement. FXTAS occurs in individuals who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive impairment. Psychiatric disorders are common. Age of onset is typically between 60 and 65 years and is more common among males who are hemizygous for the premutation (40%) than among females who are heterozygous for the premutation (16%-20%). FXPOI, defined as hypergonadotropic hypogonadism before age 40 years, has been observed in 20% of women who carry a premutation allele compared to 1% in the general population. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1384#fragilex.Summary" target="NBK1384">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1384#fragilex.GeneReview_Scope" target="NBK1384">GeneReview Scope</a>  |  <a class="medgenPMinfo" href="/books/NBK1384#fragilex.Diagnosis" target="NBK1384">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1384#fragilex.Clinical_Characteristics" target="NBK1384">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1384#fragilex.Genetically_Related_Allelic_Dis" target="NBK1384">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1384#fragilex.Differential_Diagnosis" target="NBK1384">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1384#fragilex.Management" target="NBK1384">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1384#fragilex.Genetic_Counseling" target="NBK1384">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1384#fragilex.Resources" target="NBK1384">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1384#fragilex.Molecular_Genetics" target="NBK1384">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1384#fragilex.Chapter_Notes" target="NBK1384">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1384#fragilex.References" target="NBK1384">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Jessica Ezzell Hunter  |  Elizabeth Berry-Kravis  |  Heather Hipp<i>, et. al.</i>   <a href="/books/NBK1384" target="NBK1384" title="NCBI Bookshelf: FMR1 Disorders">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Fragile X syndrome (FXS) is characterized by moderately to severely impaired intellectual development, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain (Devys et al., 1993).&#13;
Reviews&#13;
Fragile X syndrome accounts for about one-half of cases of X-linked impaired intellectual development and is the second most common cause of mental impairment after trisomy 21 (190685) (Rousseau et al., 1995).&#13;
McCabe et al. (1999) summarized the proceedings of a workshop on the fragile X syndrome held in December 1998.&#13;
Jacquemont et al. (2007) provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder.  <a target="_blank" href="http://www.omim.org/entry/300624">http://www.omim.org/entry/300624</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.<br /><br />Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorder that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.<br /><br />Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/fragile-x-syndrome">https://medlineplus.gov/genetics/condition/fragile-x-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_374308"><div><strong>Macroorchidism, postpubertal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374308</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1839782</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/374308">Feature record</a> | <a href="/medgen?term=%22Macroorchidism%2C%20postpubertal%22%5BClinical%20Features%5D%20OR%20374308%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_870213"><div><strong>Congenital macroorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870213</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4024650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/870213">Feature record</a> | <a href="/medgen?term=%22Congenital%20macroorchidism%22%5BClinical%20Features%5D%20OR%20870213%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_42034"><div><strong>Pes planus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42034</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0016202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42034">Feature record</a> | <a href="/medgen?term=%22Pes%20planus%22%5BClinical%20Features%5D%20OR%2042034%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_870640"><div><strong>Metacarpophalangeal joint hyperextensibility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870640</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4025092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Increased mobility of one ore more metacarpophalangeal joint.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/870640">Feature record</a> | <a href="/medgen?term=%22Metacarpophalangeal%20joint%20hyperextensibility%22%5BClinical%20Features%5D%20OR%20870640%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7671"><div><strong>Mitral valve prolapse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7671</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0026267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7671">Feature record</a> | <a href="/medgen?term=%22Mitral%20valve%20prolapse%22%5BClinical%20Features%5D%20OR%207671%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_488785"><div><strong>Macrotia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488785</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0152421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/488785">Feature record</a> | <a href="/medgen?term=%22Macrotia%22%5BClinical%20Features%5D%20OR%20488785%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_13966"><div><strong>Autism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13966</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0004352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).&#13; Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.&#13; Genetic Heterogeneity of Autism&#13; Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22.&#13; Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.)&#13; There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777).&#13; A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5.&#13; Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/13966">Feature record</a> | <a href="/medgen?term=%22Autism%22%5BClinical%20Features%5D%20OR%2013966%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7680"><div><strong>Intellectual disability, moderate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7680</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0026351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7680">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20moderate%22%5BClinical%20Features%5D%20OR%207680%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_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)&#10;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_603118"><div><strong>Self-biting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>603118</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0424375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Habitual biting of one's own body.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/603118">Feature record</a> | <a href="/medgen?term=%22Self-biting%22%5BClinical%20Features%5D%20OR%20603118%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_96905"><div><strong>Abnormal head movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96905</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0476217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96905">Feature record</a> | <a href="/medgen?term=%22Abnormal%20head%20movements%22%5BClinical%20Features%5D%20OR%2096905%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_303190"><div><strong>Reduced eye contact</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>303190</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1445953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A reduced frequency or duration of eye contact.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/303190">Feature record</a> | <a href="/medgen?term=%22Reduced%20eye%20contact%22%5BClinical%20Features%5D%20OR%20303190%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_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)&#10;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_1766888"><div><strong>Periventricular heterotopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1766888</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5399973</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1766888">Feature record</a> | <a href="/medgen?term=%22Periventricular%20heterotopia%22%5BClinical%20Features%5D%20OR%201766888%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)&#10;Click for more information.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_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)&#10;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)&#10;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_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)&#10;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)&#10;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_326962"><div><strong>Large forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326962</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1839783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/326962">Feature record</a> | <a href="/medgen?term=%22Large%20forehead%22%5BClinical%20Features%5D%20OR%20326962%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_335284"><div><strong>Coarse facial features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335284</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1845847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335284">Feature record</a> | <a href="/medgen?term=%22Coarse%20facial%20features%22%5BClinical%20Features%5D%20OR%20335284%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_326579"><div><strong>Folate-dependent fragile site at Xq28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326579</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1839785</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of a folate sensitive fragile site at chromosome Xq28.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/326579">Feature record</a> | <a href="/medgen?term=%22Folate-dependent%20fragile%20site%20at%20Xq28%22%5BClinical%20Features%5D%20OR%20326579%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormal cellular phenotype</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Folate-dependent fragile site at Xq28</a></span></li></ul></li><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_335284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarse facial features</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Large forehead</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></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_870640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metacarpophalangeal joint hyperextensibility</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes planus</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral valve prolapse</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870213" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital macroorchidism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macroorchidism, postpubertal</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_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_96905" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal head movements</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autism</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_7680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, moderate</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1766888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periventricular heterotopia</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_303190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced eye contact</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_603118" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Self-biting</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrotia</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0016667[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=8912">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=8912" target="_blank" href="/omim/300624">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1384/" ref="ncbi_uid=8912">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=8912" ref="ncbi_uid=8912">V</a></span></span><span class="TLline">Fragile X syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842751" ref="tree=MeSH" title="MedGen record for Chromosomal anomaly with epilepsy as a major feature">Chromosomal anomaly with epilepsy as a major feature</a></span><ul><li><span class="matched_ds">Fragile X syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=120&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Fragile X syndrome</span> in Orphanet.</div></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/35029811">An Update on Psychopharmacological Treatment of Autism Spectrum Disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aishworiya R,
Valica T,
Hagerman R,
Restrepo B</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2022 Jan;19(1):248-262.
Epub 2022 Jan 14
doi: 10.1007/s13311-022-01183-1.
<span class="bold">PMID: </span><a href="/pubmed/35029811" target="_blank">35029811</a><a href="/pmc/articles/PMC9130393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32026885">Fragile X syndrome: clinical presentation, pathology and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Salcedo-Arellano MJ,
Hagerman RJ,
Martínez-Cerdeño V</span><br />
<span class="medgenPMjournal">Gac Med Mex</span>
2020;156(1):60-66.
doi: 10.24875/GMM.19005275.
<span class="bold">PMID: </span><a href="/pubmed/32026885" target="_blank">32026885</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25006599">Genetic testing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pollack A,
Miller G</span><br />
<span class="medgenPMjournal">Aust Fam Physician</span>
2014 Jul;43(7):427.
<span class="bold">PMID: </span><a href="/pubmed/25006599" target="_blank">25006599</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fragile%20x%20syndrome%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 (238)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/21540884">Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jacquemont S,
Birnbaum S,
Redler S,
Steinbach P,
Biancalana V</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2011 Sep;19(9)
Epub 2011 May 4
doi: 10.1038/ejhg.2011.55.
<span class="bold">PMID: </span><a href="/pubmed/21540884" target="_blank">21540884</a><a href="/pmc/articles/PMC3179358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Fragile-X-ACT.pdf" target="_blank">American College of Medical Genetics and Genomics Genetic Testing ACT Sheet, Fragile X [FraX] Syndrome, 2012</a></h3>
</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/32281257">Ageing and cognition in men with fragile X syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sauna-Aho O,
Bjelogrlic-Laakso N,
Rautava P,
Arvio M</span><br />
<span class="medgenPMjournal">J Appl Res Intellect Disabil</span>
2020 Sep;33(5):1113-1118.
Epub 2020 Apr 12
doi: 10.1111/jar.12733.
<span class="bold">PMID: </span><a href="/pubmed/32281257" target="_blank">32281257</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15098956">Comparison groups in autism family research: Down syndrome, fragile X syndrome, and schizophrenia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Seltzer MM,
Abbeduto L,
Krauss MW,
Greenberg J,
Swe A</span><br />
<span class="medgenPMjournal">J Autism Dev Disord</span>
2004 Feb;34(1):41-8.
doi: 10.1023/b:jadd.0000018073.92982.64.
<span class="bold">PMID: </span><a href="/pubmed/15098956" target="_blank">15098956</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9934149">Fragile X syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gelbart M</span><br />
<span class="medgenPMjournal">Nurs Times</span>
1998 Nov 25-Dec 1;94(47):45.
<span class="bold">PMID: </span><a href="/pubmed/9934149" target="_blank">9934149</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9109809">Trinucleotide repetition and fragile X syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Warren ST</span><br />
<span class="medgenPMjournal">Hosp Pract (1995)</span>
1997 Apr 15;32(4):73-6, 81-5, 90-2 passim.
doi: 10.1080/21548331.1997.11443466.
<span class="bold">PMID: </span><a href="/pubmed/9109809" target="_blank">9109809</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7992687">Fragile X syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Laxova R</span><br />
<span class="medgenPMjournal">Adv Pediatr</span>
1994;41:305-42.
<span class="bold">PMID: </span><a href="/pubmed/7992687" target="_blank">7992687</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fragile%20X%20syndrome%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 (1683)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37664646">Fragile X Syndrome in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Acero-Garcés DO,
Saldarriaga W,
Cabal-Herrera AM,
Rojas CA,
Hagerman RJ</span><br />
<span class="medgenPMjournal">Colomb Med (Cali)</span>
2023 Apr-Jun;54(2):e4005089.
Epub 2023 May 20
doi: 10.25100/cm.v54i2.5089.
<span class="bold">PMID: </span><a href="/pubmed/37664646" target="_blank">37664646</a><a href="/pmc/articles/PMC10469670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37298158">Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ciobanu CG,
Nucă I,
Popescu R,
Antoci LM,
Caba L,
Ivanov AV,
Cojocaru KA,
Rusu C,
Mihai CT,
Pânzaru MC</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2023 May 24;24(11)
doi: 10.3390/ijms24119206.
<span class="bold">PMID: </span><a href="/pubmed/37298158" target="_blank">37298158</a><a href="/pmc/articles/PMC10252420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32026885">Fragile X syndrome: clinical presentation, pathology and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Salcedo-Arellano MJ,
Hagerman RJ,
Martínez-Cerdeño V</span><br />
<span class="medgenPMjournal">Gac Med Mex</span>
2020;156(1):60-66.
doi: 10.24875/GMM.19005275.
<span class="bold">PMID: </span><a href="/pubmed/32026885" target="_blank">32026885</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30900171">Fragile X Syndrome: Introduction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Reches A</span><br />
<span class="medgenPMjournal">Methods Mol Biol</span>
2019;1942:3-10.
doi: 10.1007/978-1-4939-9080-1_1.
<span class="bold">PMID: </span><a href="/pubmed/30900171" target="_blank">30900171</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28960184">Fragile X syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hagerman RJ,
Berry-Kravis E,
Hazlett HC,
Bailey DB Jr,
Moine H,
Kooy RF,
Tassone F,
Gantois I,
Sonenberg N,
Mandel JL,
Hagerman PJ</span><br />
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
2017 Sep 29;3:17065.
doi: 10.1038/nrdp.2017.65.
<span class="bold">PMID: </span><a href="/pubmed/28960184" target="_blank">28960184</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fragile%20X%20syndrome%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 (2051)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/35029811">An Update on Psychopharmacological Treatment of Autism Spectrum Disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aishworiya R,
Valica T,
Hagerman R,
Restrepo B</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2022 Jan;19(1):248-262.
Epub 2022 Jan 14
doi: 10.1007/s13311-022-01183-1.
<span class="bold">PMID: </span><a href="/pubmed/35029811" target="_blank">35029811</a><a href="/pmc/articles/PMC9130393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31727225">Psychopharmacology of neurobehavioral disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mooney LN,
Dominick KC,
Erickson CA</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2019;165:383-390.
doi: 10.1016/B978-0-444-64012-3.00023-X.
<span class="bold">PMID: </span><a href="/pubmed/31727225" target="_blank">31727225</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30793794">Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sabus A,
Feinstein J,
Romani P,
Goldson E,
Blackmer A</span><br />
<span class="medgenPMjournal">Pharmacotherapy</span>
2019 Jun;39(6):645-664.
Epub 2019 Mar 27
doi: 10.1002/phar.2238.
<span class="bold">PMID: </span><a href="/pubmed/30793794" target="_blank">30793794</a><a href="/pmc/articles/PMC6555654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26216231">Endocannabinoid Signaling in Autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chakrabarti B,
Persico A,
Battista N,
Maccarrone M</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2015 Oct;12(4):837-47.
doi: 10.1007/s13311-015-0371-9.
<span class="bold">PMID: </span><a href="/pubmed/26216231" target="_blank">26216231</a><a href="/pmc/articles/PMC4604173" 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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fragile%20X%20syndrome%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 (433)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37664646">Fragile X Syndrome in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Acero-Garcés DO,
Saldarriaga W,
Cabal-Herrera AM,
Rojas CA,
Hagerman RJ</span><br />
<span class="medgenPMjournal">Colomb Med (Cali)</span>
2023 Apr-Jun;54(2):e4005089.
Epub 2023 May 20
doi: 10.25100/cm.v54i2.5089.
<span class="bold">PMID: </span><a href="/pubmed/37664646" target="_blank">37664646</a><a href="/pmc/articles/PMC10469670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32748612">Tall stature in children and adolescents.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Urakami T</span><br />
<span class="medgenPMjournal">Minerva Pediatr</span>
2020 Dec;72(6):472-483.
Epub 2020 Aug 4
doi: 10.23736/S0026-4946.20.05971-X.
<span class="bold">PMID: </span><a href="/pubmed/32748612" target="_blank">32748612</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28420439">Fragile X syndrome: a review of clinical and molecular diagnoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ciaccio C,
Fontana L,
Milani D,
Tabano S,
Miozzo M,
Esposito S</span><br />
<span class="medgenPMjournal">Ital J Pediatr</span>
2017 Apr 19;43(1):39.
doi: 10.1186/s13052-017-0355-y.
<span class="bold">PMID: </span><a href="/pubmed/28420439" target="_blank">28420439</a><a href="/pmc/articles/PMC5395755" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26216231">Endocannabinoid Signaling in Autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chakrabarti B,
Persico A,
Battista N,
Maccarrone M</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2015 Oct;12(4):837-47.
doi: 10.1007/s13311-015-0371-9.
<span class="bold">PMID: </span><a href="/pubmed/26216231" target="_blank">26216231</a><a href="/pmc/articles/PMC4604173" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8458085">A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.</a></div>
<div class="portlet_content ln"><span class="medgenPMjournal">Cell</span>
1993 Mar 26;72(6):971-83.
doi: 10.1016/0092-8674(93)90585-e.
<span class="bold">PMID: </span><a href="/pubmed/8458085" target="_blank">8458085</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fragile%20X%20syndrome%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 (559)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37987117">Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Quilichini J,
Perol S,
Cuisset L,
Grotto S,
Fouveaut C,
Barbot JC,
Verebi C,
Jordan P,
Héron D,
Molina-Gomes D,
Pipiras E,
Grynberg M,
Catteau-Jonard S,
Touraine P,
Christin-Maître S,
Plu-Bureau G,
El Khattabi L,
Bienvenu T</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2024 Apr;194(4):e63479.
Epub 2023 Nov 21
doi: 10.1002/ajmg.a.63479.
<span class="bold">PMID: </span><a href="/pubmed/37987117" target="_blank">37987117</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34536164">Change in Behavior Problems from Childhood Through Adolescence for Children with Fragile X Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">DaWalt LS,
Fielding-Gebhardt H,
Fleming KK,
Warren SF,
Brady N</span><br />
<span class="medgenPMjournal">J Autism Dev Disord</span>
2022 Sep;52(9):4056-4066.
Epub 2021 Sep 18
doi: 10.1007/s10803-021-05270-8.
<span class="bold">PMID: </span><a href="/pubmed/34536164" target="_blank">34536164</a><a href="/pmc/articles/PMC8449523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34697198">Sella Turcica Shape in Fragile X Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrich RE</span><br />
<span class="medgenPMjournal">In Vivo</span>
2021 Nov-Dec;35(6):3581-3584.
doi: 10.21873/invivo.12662.
<span class="bold">PMID: </span><a href="/pubmed/34697198" target="_blank">34697198</a><a href="/pmc/articles/PMC8627729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32281257">Ageing and cognition in men with fragile X syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sauna-Aho O,
Bjelogrlic-Laakso N,
Rautava P,
Arvio M</span><br />
<span class="medgenPMjournal">J Appl Res Intellect Disabil</span>
2020 Sep;33(5):1113-1118.
Epub 2020 Apr 12
doi: 10.1111/jar.12733.
<span class="bold">PMID: </span><a href="/pubmed/32281257" target="_blank">32281257</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24679350">Social approach and emotion recognition in fragile X syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Williams TA,
Porter MA,
Langdon R</span><br />
<span class="medgenPMjournal">Am J Intellect Dev Disabil</span>
2014 Mar;119(2):133-50.
doi: 10.1352/1944-7558-119.2.133.
<span class="bold">PMID: </span><a href="/pubmed/24679350" target="_blank">24679350</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fragile%20X%20syndrome%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 (1383)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/38393835">Pharmacological management of fragile X syndrome: a systematic review and narrative summary of the current evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Watkins LV,
Moon S,
Burrows L,
Tromans S,
Barwell J,
Shankar R</span><br />
<span class="medgenPMjournal">Expert Opin Pharmacother</span>
2024 Feb;25(3):301-313.
Epub 2024 Mar 18
doi: 10.1080/14656566.2024.2323605.
<span class="bold">PMID: </span><a href="/pubmed/38393835" target="_blank">38393835</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36172690">A Systematic Review of Fragile X-Associated Neuropsychiatric Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Flavell J,
Franklin C,
Nestor PJ</span><br />
<span class="medgenPMjournal">J Neuropsychiatry Clin Neurosci</span>
2023 Spring;35(2):110-120.
Epub 2022 Sep 29
doi: 10.1176/appi.neuropsych.21110282.
<span class="bold">PMID: </span><a href="/pubmed/36172690" target="_blank">36172690</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35205326">Behavior Problems and Social Competence in Fragile X Syndrome: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cregenzán-Royo O,
Brun-Gasca C,
Fornieles-Deu A</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2022 Jan 30;13(2)
doi: 10.3390/genes13020280.
<span class="bold">PMID: </span><a href="/pubmed/35205326" target="_blank">35205326</a><a href="/pmc/articles/PMC8871871" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25847019">Fragile X premutation carriers: A systematic review of neuroimaging findings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brown SS,
Stanfield AC</span><br />
<span class="medgenPMjournal">J Neurol Sci</span>
2015 May 15;352(1-2):19-28.
Epub 2015 Mar 27
doi: 10.1016/j.jns.2015.03.031.
<span class="bold">PMID: </span><a href="/pubmed/25847019" target="_blank">25847019</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=%22Fragile%20X%20syndrome%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 (36)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0016667%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (60)</a></li>
<li><a href="/gtr/tests?term=C0016667%5bDISCUI%5d&amp;filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
<li><a href="/gtr/tests?term=C0016667%5bDISCUI%5d&amp;filter=method%3A1%5F2" target="_blank">Enzyme assay (7)</a></li>
<li><a href="/gtr/tests?term=C0016667%5bDISCUI%5d&amp;filter=method%3A3%5F32" target="_blank">Karyotyping (1)</a></li>
<li><a href="/gtr/tests?term=C0016667%5bDISCUI%5d&amp;filter=method%3A2%5F15" target="_blank">Methylation analysis (27)</a></li>
<li><a href="/gtr/tests?term=C0016667%5bDISCUI%5d&amp;filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (3)</a></li>
<li><a href="/gtr/tests?term=C0016667%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (11)</a></li>
<li><a href="/gtr/tests?term=C0016667%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (29)</a></li>
<li><a href="/gtr/tests?term=C0016667%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (76)</a></li>
<li><a href="/gtr/tests?term=C0016667%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (100)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0016667%5bDISCUI%5d" target="_blank">See all (179)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fragile%20x%20syndrome%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Fragile%20X%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Fragile-X-ACT.pdf">ACMG ACT, 2012</a><div>American College of Medical Genetics and Genomics Genetic Testing ACT Sheet, Fragile X [FraX] Syndrome, 2012</div></li><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//21540884/">EuroGenetest, 2011</a><div>Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.</div></li></ul></div>
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