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<meta name="keywords" content="C2678051, disease or syndrome, gria3, intellectual developmental disorder, x-linked, syndromic, wu type, intellectual developmental disorder, x-linked, syndromic, wu type, x-linked recessive, intellectual disability, x-linked 94, intellectual disability, x-linked, syndromic 29, intellectual disability, x-linked, syndromic, wu type, mental retardation, x-linked 94, mental retardation, x-linked, syndromic 29, mental retardation, x-linked, syndromic, wu type, mrx94, mrxs29, mrxsw, syndromic x-linked intellectual disability 29, syndromic x-linked intellectual disability 94, syndromic x-linked intellectual disability due to gria3 anomalies, syndromic x-linked intellectual disability type 94, syndromic x-linked intellectual disability wu type, syndromic x-linked mental retardation 29, syndromic x-linked mental retardation wu type, x-linked mental retardation 94, 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="A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=437111
|
||
ConceptID=C2678051
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Syndromic X-linked intellectual disability 94<span class="h1sub">(MRXSW)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>437111</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:">C2678051</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>MENTAL RETARDATION, X-LINKED, SYNDROMIC 29; MRXSW; X-Linked Mental Retardation 94</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="GRIA3 - ID: 2892 - NCBI Gene" href="/gene/2892" class="medgenPMinfo">GRIA3</a> (Xq25)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010402" target="_blank">MONDO:0010402</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300699" target="_blank">300699</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_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_376828"><div><strong>Slender build</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376828</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850573</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376828">Feature record</a> | <a href="/medgen?term=%22Slender%20build%22%5BClinical%20Features%5D%20OR%20376828%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_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) 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). 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. Genetic Heterogeneity of Autism 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. 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.) 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). A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5. 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_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</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.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48638"><div><strong>Intellectual disability, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48638</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48638">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20severe%22%5BClinical%20Features%5D%20OR%2048638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88371"><div><strong>Self-injurious behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88371</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.">C0085271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Self-aggression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Self-injurious%20behavior%22%5BClinical%20Features%5D%20OR%2088371%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115980"><div><strong>Limb tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115980</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.">C0235081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115980">Feature record</a> | <a href="/medgen?term=%22Limb%20tremor%22%5BClinical%20Features%5D%20OR%20115980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</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.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_199867"><div><strong>Focal tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199867</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.">C0752324</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/199867">Feature record</a> | <a href="/medgen?term=%22Focal%20tonic%20seizure%22%5BClinical%20Features%5D%20OR%20199867%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_869073"><div><strong>Interictal epileptiform activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869073</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.">C4023491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869073">Feature record</a> | <a href="/medgen?term=%22Interictal%20epileptiform%20activity%22%5BClinical%20Features%5D%20OR%20869073%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870517"><div><strong>Frontal cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870517</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.">C4024965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the frontal cortex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870517">Feature record</a> | <a href="/medgen?term=%22Frontal%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%20870517%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10132"><div><strong>Hypertonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10132</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.">C0026826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10132">Feature record</a> | <a href="/medgen?term=%22Hypertonia%22%5BClinical%20Features%5D%20OR%2010132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113165"><div><strong>Brachycephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113165</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.">C0221356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113165">Feature record</a> | <a href="/medgen?term=%22Brachycephaly%22%5BClinical%20Features%5D%20OR%20113165%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140883"><div><strong>Distal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140883</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.">C0427065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of the musculature of the distal extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140883">Feature record</a> | <a href="/medgen?term=%22Distal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20140883%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_745757"><div><strong>Macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>745757</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2243051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/745757">Feature record</a> | <a href="/medgen?term=%22Macrocephaly%22%5BClinical%20Features%5D%20OR%20745757%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333982"><div><strong>Prominent supraorbital ridges</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333982</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.">C1842060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333982">Feature record</a> | <a href="/medgen?term=%22Prominent%20supraorbital%20ridges%22%5BClinical%20Features%5D%20OR%20333982%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_473112"><div><strong>Deeply set eye</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473112</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An eye that is more deeply recessed into the plane of the face than is typical.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473112">Feature record</a> | <a href="/medgen?term=%22Deeply%20set%20eye%22%5BClinical%20Features%5D%20OR%20473112%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".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_333982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent supraorbital ridges</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deeply set eye</a></span></li></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_113165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachycephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_745757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_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_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_199867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal tonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal cortical atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</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_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interictal epileptiform activity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</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_88371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Self-injurious behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376828" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slender build</a></span></li></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/29261177">Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Archibald AD,
|
||
Smith MJ,
|
||
Burgess T,
|
||
Scarff KL,
|
||
Elliott J,
|
||
Hunt CE,
|
||
McDonald Z,
|
||
Barns-Jenkins C,
|
||
Holt C,
|
||
Sandoval K,
|
||
Siva Kumar V,
|
||
Ward L,
|
||
Allen EC,
|
||
Collis SV,
|
||
Cowie S,
|
||
Francis D,
|
||
Delatycki MB,
|
||
Yiu EM,
|
||
Massie RJ,
|
||
Pertile MD,
|
||
du Sart D,
|
||
Bruno D,
|
||
Amor DJ</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2018 Apr;20(5):513-523.
|
||
Epub 2017 Oct 26
|
||
doi: 10.1038/gim.2017.134.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29261177" target="_blank">29261177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26892444">Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cotter M,
|
||
Archibald AD,
|
||
McClaren BJ,
|
||
Burgess T,
|
||
Francis D,
|
||
Hills L,
|
||
Martyn M,
|
||
Oertel R,
|
||
Slater H,
|
||
Cohen J,
|
||
Metcalfe SA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Jun;170(6):1439-49.
|
||
Epub 2016 Feb 18
|
||
doi: 10.1002/ajmg.a.37603.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26892444" target="_blank">26892444</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23303663">Maternal attitudes to newborn screening for fragile X syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christie L,
|
||
Wotton T,
|
||
Bennetts B,
|
||
Wiley V,
|
||
Wilcken B,
|
||
Rogers C,
|
||
Boyle J,
|
||
Turner C,
|
||
Hansen J,
|
||
Hunter M,
|
||
Goel H,
|
||
Field M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2013 Feb;161A(2):301-11.
|
||
Epub 2013 Jan 9
|
||
doi: 10.1002/ajmg.a.35752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23303663" target="_blank">23303663</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(syndromic%20x-linked%20intellectual%20disability%2094)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (6)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan CN,
|
||
Musolino PL,
|
||
Lund TC,
|
||
Gupta AO,
|
||
De Oliveira S,
|
||
Thrasher AJ,
|
||
Aubourg P,
|
||
Kühl JS,
|
||
Loes DJ,
|
||
Amartino H,
|
||
Smith N,
|
||
Folloni Fernandes J,
|
||
Sevin C,
|
||
Sankar R,
|
||
Hussain SA,
|
||
Gissen P,
|
||
Dalle JH,
|
||
Platzbecker U,
|
||
Downey GF,
|
||
McNeil E,
|
||
Demopoulos L,
|
||
Dietz AC,
|
||
Thakar HL,
|
||
Orchard PJ,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1302-1312.
|
||
doi: 10.1056/NEJMoa2400442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30497449">Oral health experiences of individuals with Rett syndrome: a retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai YYL,
|
||
Wong K,
|
||
King NM,
|
||
Downs J,
|
||
Leonard H</span><br />
|
||
<span class="medgenPMjournal">BMC Oral Health</span>
|
||
2018 Nov 29;18(1):195.
|
||
doi: 10.1186/s12903-018-0651-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30497449" target="_blank">30497449</a><a href="/pmc/articles/PMC6267076" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24768552">Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinto D,
|
||
Delaby E,
|
||
Merico D,
|
||
Barbosa M,
|
||
Merikangas A,
|
||
Klei L,
|
||
Thiruvahindrapuram B,
|
||
Xu X,
|
||
Ziman R,
|
||
Wang Z,
|
||
Vorstman JA,
|
||
Thompson A,
|
||
Regan R,
|
||
Pilorge M,
|
||
Pellecchia G,
|
||
Pagnamenta AT,
|
||
Oliveira B,
|
||
Marshall CR,
|
||
Magalhaes TR,
|
||
Lowe JK,
|
||
Howe JL,
|
||
Griswold AJ,
|
||
Gilbert J,
|
||
Duketis E,
|
||
Dombroski BA,
|
||
De Jonge MV,
|
||
Cuccaro M,
|
||
Crawford EL,
|
||
Correia CT,
|
||
Conroy J,
|
||
Conceição IC,
|
||
Chiocchetti AG,
|
||
Casey JP,
|
||
Cai G,
|
||
Cabrol C,
|
||
Bolshakova N,
|
||
Bacchelli E,
|
||
Anney R,
|
||
Gallinger S,
|
||
Cotterchio M,
|
||
Casey G,
|
||
Zwaigenbaum L,
|
||
Wittemeyer K,
|
||
Wing K,
|
||
Wallace S,
|
||
van Engeland H,
|
||
Tryfon A,
|
||
Thomson S,
|
||
Soorya L,
|
||
Rogé B,
|
||
Roberts W,
|
||
Poustka F,
|
||
Mouga S,
|
||
Minshew N,
|
||
McInnes LA,
|
||
McGrew SG,
|
||
Lord C,
|
||
Leboyer M,
|
||
Le Couteur AS,
|
||
Kolevzon A,
|
||
Jiménez González P,
|
||
Jacob S,
|
||
Holt R,
|
||
Guter S,
|
||
Green J,
|
||
Green A,
|
||
Gillberg C,
|
||
Fernandez BA,
|
||
Duque F,
|
||
Delorme R,
|
||
Dawson G,
|
||
Chaste P,
|
||
Café C,
|
||
Brennan S,
|
||
Bourgeron T,
|
||
Bolton PF,
|
||
Bölte S,
|
||
Bernier R,
|
||
Baird G,
|
||
Bailey AJ,
|
||
Anagnostou E,
|
||
Almeida J,
|
||
Wijsman EM,
|
||
Vieland VJ,
|
||
Vicente AM,
|
||
Schellenberg GD,
|
||
Pericak-Vance M,
|
||
Paterson AD,
|
||
Parr JR,
|
||
Oliveira G,
|
||
Nurnberger JI,
|
||
Monaco AP,
|
||
Maestrini E,
|
||
Klauck SM,
|
||
Hakonarson H,
|
||
Haines JL,
|
||
Geschwind DH,
|
||
Freitag CM,
|
||
Folstein SE,
|
||
Ennis S,
|
||
Coon H,
|
||
Battaglia A,
|
||
Szatmari P,
|
||
Sutcliffe JS,
|
||
Hallmayer J,
|
||
Gill M,
|
||
Cook EH,
|
||
Buxbaum JD,
|
||
Devlin B,
|
||
Gallagher L,
|
||
Betancur C,
|
||
Scherer SW</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2014 May 1;94(5):677-94.
|
||
Epub 2014 Apr 24
|
||
doi: 10.1016/j.ajhg.2014.03.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24768552" target="_blank">24768552</a><a href="/pmc/articles/PMC4067558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16077729">p.R270X MECP2 mutation and mortality in Rett syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jian L,
|
||
Archer HL,
|
||
Ravine D,
|
||
Kerr A,
|
||
de Klerk N,
|
||
Christodoulou J,
|
||
Bailey ME,
|
||
Laurvick C,
|
||
Leonard H</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2005 Nov;13(11):1235-8.
|
||
doi: 10.1038/sj.ejhg.5201479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16077729" target="_blank">16077729</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8040765">Polysomnographic characteristics of patients with Rett syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marcus CL,
|
||
Carroll JL,
|
||
McColley SA,
|
||
Loughlin GM,
|
||
Curtis S,
|
||
Pyzik P,
|
||
Naidu S</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1994 Aug;125(2):218-24.
|
||
doi: 10.1016/s0022-3476(94)70196-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8040765" target="_blank">8040765</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20X-linked%20intellectual%20disability%2094%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 (55)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan CN,
|
||
Musolino PL,
|
||
Lund TC,
|
||
Gupta AO,
|
||
De Oliveira S,
|
||
Thrasher AJ,
|
||
Aubourg P,
|
||
Kühl JS,
|
||
Loes DJ,
|
||
Amartino H,
|
||
Smith N,
|
||
Folloni Fernandes J,
|
||
Sevin C,
|
||
Sankar R,
|
||
Hussain SA,
|
||
Gissen P,
|
||
Dalle JH,
|
||
Platzbecker U,
|
||
Downey GF,
|
||
McNeil E,
|
||
Demopoulos L,
|
||
Dietz AC,
|
||
Thakar HL,
|
||
Orchard PJ,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1302-1312.
|
||
doi: 10.1056/NEJMoa2400442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28911278">Measurement of Sedentary Behaviors or "Downtime" in Rett Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stahlhut M,
|
||
Hill K,
|
||
Bisgaard AM,
|
||
Jensen AK,
|
||
Andersen M,
|
||
Leonard H,
|
||
Downs J</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2017 Oct;32(12):1009-1013.
|
||
doi: 10.1177/0883073817728861.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28911278" target="_blank">28911278</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16015284">Early onset seizures and Rett-like features associated with mutations in CDKL5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans JC,
|
||
Archer HL,
|
||
Colley JP,
|
||
Ravn K,
|
||
Nielsen JB,
|
||
Kerr A,
|
||
Williams E,
|
||
Christodoulou J,
|
||
Gécz J,
|
||
Jardine PE,
|
||
Wright MJ,
|
||
Pilz DT,
|
||
Lazarou L,
|
||
Cooper DN,
|
||
Sampson JR,
|
||
Butler R,
|
||
Whatley SD,
|
||
Clarke AJ</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2005 Oct;13(10):1113-20.
|
||
doi: 10.1038/sj.ejhg.5201451.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16015284" target="_blank">16015284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8040765">Polysomnographic characteristics of patients with Rett syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marcus CL,
|
||
Carroll JL,
|
||
McColley SA,
|
||
Loughlin GM,
|
||
Curtis S,
|
||
Pyzik P,
|
||
Naidu S</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1994 Aug;125(2):218-24.
|
||
doi: 10.1016/s0022-3476(94)70196-2.
|
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<span class="bold">PMID: </span><a href="/pubmed/8040765" target="_blank">8040765</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20X-linked%20intellectual%20disability%2094%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 (53)</a></div><h3 class="subhead">Therapy</h3>
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Percy AK,
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Guillén V,
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Ballesteros J,
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<span class="bold">PMID: </span><a href="/pubmed/25985235" target="_blank">25985235</a><a href="/pmc/articles/PMC10849109" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20X-linked%20intellectual%20disability%2094%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
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Duncan CN,
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Musolino PL,
|
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Lund TC,
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Gupta AO,
|
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De Oliveira S,
|
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Thrasher AJ,
|
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Aubourg P,
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Kühl JS,
|
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Loes DJ,
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Amartino H,
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Smith N,
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Folloni Fernandes J,
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Sevin C,
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Sankar R,
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Hussain SA,
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Gissen P,
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Dalle JH,
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Platzbecker U,
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Downey GF,
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McNeil E,
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Demopoulos L,
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Dietz AC,
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Thakar HL,
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Orchard PJ,
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Williams DA</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20X-linked%20intellectual%20disability%2094%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 (23)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
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Duncan CN,
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Musolino PL,
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Lund TC,
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Gupta AO,
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De Oliveira S,
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Thrasher AJ,
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Aubourg P,
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Kühl JS,
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Loes DJ,
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Amartino H,
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Smith N,
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Sevin C,
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Sankar R,
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Gissen P,
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Dalle JH,
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Downey GF,
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McNeil E,
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Dietz AC,
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Thakar HL,
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Orchard PJ,
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Williams DA</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37291210">Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Neul JL,
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Percy AK,
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Benke TA,
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Berry-Kravis EM,
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Glaze DG,
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Marsh ED,
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Lin T,
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Stankovic S,
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Bishop KM,
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Youakim JM</span><br />
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Epub 2023 Jun 8
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<span class="bold">PMID: </span><a href="/pubmed/37291210" target="_blank">37291210</a><a href="/pmc/articles/PMC10287558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28911278">Measurement of Sedentary Behaviors or "Downtime" in Rett Syndrome.</a></div>
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Hill K,
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Bisgaard AM,
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<div class="portlet_content ln"><span class="medgenPMauthor">Jian L,
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Archer HL,
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Ravine D,
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<span class="bold">PMID: </span><a href="/pubmed/16077729" target="_blank">16077729</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/14708067">Nerve growth factor plasma levels and ventricular repolarization in Rett syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guideri F,
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Acampa M,
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Calamandrei G,
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Aloe L,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20X-linked%20intellectual%20disability%2094%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 (40)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/25985235">L-acetylcarnitine for treating fragile X syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rueda JR,
|
||
Guillén V,
|
||
Ballesteros J,
|
||
Tejada MI,
|
||
Solà I</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2015 May 19;2015(5):CD010012.
|
||
doi: 10.1002/14651858.CD010012.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25985235" target="_blank">25985235</a><a href="/pmc/articles/PMC10849109" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20X-linked%20intellectual%20disability%2094%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2678051%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C2678051%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C2678051%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2678051%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C2678051%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2678051%5bDISCUI%5d" target="_blank">See all (31)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300699" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Syndromic%20X-linked%20intellectual%20disability%2094" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(syndromic%20x-linked%20intellectual%20disability%2094)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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