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<meta name="keywords" content="C3810225, intellectual developmental disorder, autosomal recessive 41, intellectual disability, autosomal recessive 41, intellectual disability, autosomal recessive type 41, kptn, macrocephaly-developmental delay syndrome, mental or behavioral dysfunction, mental retardation, autosomal recessive 41, mental retardation, autosomal recessive type 41, mrt41, 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="KPTN-related disorder is characterized by mild-to-profound intellectual disability, global developmental delay, neurobehavioral/psychiatric manifestations (anxiety, stereotypies, hyperactivity, repetitive speech, and impaired social communication), hypotonia, postnatal and progressive macrocephaly, and seizures. Generalized megalencephaly is often present on brain imaging. Some individuals have recurrent infections, conductive hearing impairment, strabismus, nystagmus, ketotic hypoglycemia, thyroid dysfunction, and/or mild skeletal manifestations." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
|
||
UID=816555
|
||
ConceptID=C3810225
|
||
-->
|
||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK605495/bin/kptn-dis-Image001.gif" src-large="/books/NBK605495/bin/kptn-dis-Image001.jpg" /></a><br /><a href="/books/NBK605495/figure/kptn-dis.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Macrocephaly-developmental delay syndrome<span class="h1sub">(MRT41)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816555</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:">C3810225</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41; MRT41</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="KPTN - ID: 11133 - NCBI Gene" href="/gene/11133" class="medgenPMinfo">KPTN</a> (19q13.32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014289" target="_blank">MONDO:0014289</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615637" target="_blank">615637</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=397612">ORPHA397612</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/NBK605495" target="_blank">KPTN-Related Disorder</a></div><div>KPTN-related disorder is characterized by mild-to-profound intellectual disability, global developmental delay, neurobehavioral/psychiatric manifestations (anxiety, stereotypies, hyperactivity, repetitive speech, and impaired social communication), hypotonia, postnatal and progressive macrocephaly, and seizures. Generalized megalencephaly is often present on brain imaging. Some individuals have recurrent infections, conductive hearing impairment, strabismus, nystagmus, ketotic hypoglycemia, thyroid dysfunction, and/or mild skeletal manifestations. [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/NBK605495#kptn-dis.Summary" target="NBK605495">Summary</a> | <a class="medgenPMinfo" href="/books/NBK605495#kptn-dis.Diagnosis" target="NBK605495">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK605495#kptn-dis.Clinical_Characteristics" target="NBK605495">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK605495#kptn-dis.Genetically_Related_Allelic_Dis" target="NBK605495">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK605495#kptn-dis.Differential_Diagnosis" target="NBK605495">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK605495#kptn-dis.Management" target="NBK605495">Management</a> | <a class="medgenPMinfo" href="/books/NBK605495#kptn-dis.Genetic_Counseling" target="NBK605495">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK605495#kptn-dis.Resources" target="NBK605495">Resources</a> | <a class="medgenPMinfo" href="/books/NBK605495#kptn-dis.Molecular_Genetics" target="NBK605495">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK605495#kptn-dis.Chapter_Notes" target="NBK605495">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK605495#kptn-dis.References" target="NBK605495">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Lettie E Rawlins | Peter B Crino | Philip H Iffland<i>, et. al.</i> <a href="/books/NBK605495" target="NBK605495" title="NCBI Bookshelf: KPTN-Related Disorder">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Autosomal recessive intellectual developmental disorder-41 (MRT41) is characterized by macrocephaly and global developmental delay. Some patients have seizures (Baple et al., 2014). <a target="_blank" href="http://www.omim.org/entry/615637">http://www.omim.org/entry/615637</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_340456"><div><strong>Clinodactyly of the 5th finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340456</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340456">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%20of%20the%205th%20finger%22%5BClinical%20Features%5D%20OR%20340456%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1613"><div><strong>Anxiety</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613</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.">C0003467</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1613">Feature record</a> | <a href="/medgen?term=%22Anxiety%22%5BClinical%20Features%5D%20OR%201613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_115963"><div><strong>Generalized-onset seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115963</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.">C0234533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115963">Feature record</a> | <a href="/medgen?term=%22Generalized-onset%20seizure%22%5BClinical%20Features%5D%20OR%20115963%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</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.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%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_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_1385688"><div><strong>Generalized non-motor (absence) seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385688</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.">C4316903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385688">Feature record</a> | <a href="/medgen?term=%22Generalized%20non-motor%20(absence)%20seizure%22%5BClinical%20Features%5D%20OR%201385688%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19766"><div><strong>Retrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19766</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.">C0035353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the mandible is mislocalised posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19766">Feature record</a> | <a href="/medgen?term=%22Retrognathia%22%5BClinical%20Features%5D%20OR%2019766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</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.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65142"><div><strong>Dolichocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65142</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.">C0221358</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 increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65142">Feature record</a> | <a href="/medgen?term=%22Dolichocephaly%22%5BClinical%20Features%5D%20OR%2065142%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82712"><div><strong>Isolated scaphocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82712</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.">C0265534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82712">Feature record</a> | <a href="/medgen?term=%22Isolated%20scaphocephaly%22%5BClinical%20Features%5D%20OR%2082712%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_195802"><div><strong>Recurrent pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195802</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.">C0694550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195802">Feature record</a> | <a href="/medgen?term=%22Recurrent%20pneumonia%22%5BClinical%20Features%5D%20OR%20195802%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98316"><div><strong>Mandibular prognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98316</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0399526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal prominence of the chin related to increased length of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98316">Feature record</a> | <a href="/medgen?term=%22Mandibular%20prognathia%22%5BClinical%20Features%5D%20OR%2098316%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</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.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98424"><div><strong>Broad nasal tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98424</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.">C0426429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in width of the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98424">Feature record</a> | <a href="/medgen?term=%22Broad%20nasal%20tip%22%5BClinical%20Features%5D%20OR%2098424%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373291"><div><strong>Prominent forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373291</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forward prominence of the entire forehead, due to protrusion of the frontal bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373291">Feature record</a> | <a href="/medgen?term=%22Prominent%20forehead%22%5BClinical%20Features%5D%20OR%20373291%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322758"><div><strong>Prominent fingertip pads</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322758</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.">C1835807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322758">Feature record</a> | <a href="/medgen?term=%22Prominent%20fingertip%20pads%22%5BClinical%20Features%5D%20OR%20322758%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div><div class="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_98424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad nasal tip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular prognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent forehead</a></span></li></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_340456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly of the 5th finger</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</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_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322758" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent fingertip pads</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_65142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dolichocephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated scaphocephaly</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_19766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retrognathia</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_1613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anxiety</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_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized non-motor (absence) seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115963" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized-onset seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</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_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent pneumonia</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=C3810225[DISCUI]&test_type=Clinical" ref="ncbi_uid=816555">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816555" target="_blank" href="/omim/615620">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK605495/" ref="ncbi_uid=816555">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816555" ref="ncbi_uid=816555">V</a></span></span><span class="TLline">Macrocephaly-developmental delay syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826158" ref="tree=MeSH" title="MedGen record for Multiple congenital anomalies/dysmorphic syndrome-intellectual disability">Multiple congenital anomalies/dysmorphic syndrome-intellectual disability</a></span><ul><li><span class="matched_ds">Macrocephaly-developmental delay 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&data_id=156&PatId=22687&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Macrocephaly-developmental delay 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/37815563">Diagnosis and Treatment of Bipolar Disorder: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nierenberg AA,
|
||
Agustini B,
|
||
Köhler-Forsberg O,
|
||
Cusin C,
|
||
Katz D,
|
||
Sylvia LG,
|
||
Peters A,
|
||
Berk M</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Oct 10;330(14):1370-1380.
|
||
doi: 10.1001/jama.2023.18588.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37815563" target="_blank">37815563</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37580861">Recommendations from the 2023 international evidence-based guideline for the assessment and management of polycystic ovary syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teede HJ,
|
||
Tay CT,
|
||
Laven JJE,
|
||
Dokras A,
|
||
Moran LJ,
|
||
Piltonen TT,
|
||
Costello MF,
|
||
Boivin J,
|
||
Redman LM,
|
||
Boyle JA,
|
||
Norman RJ,
|
||
Mousa A,
|
||
Joham AE;
|
||
International PCOS Network</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2023 Aug 2;189(2):G43-G64.
|
||
doi: 10.1093/ejendo/lvad096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37580861" target="_blank">37580861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37580314">Recommendations From the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teede HJ,
|
||
Tay CT,
|
||
Laven JJE,
|
||
Dokras A,
|
||
Moran LJ,
|
||
Piltonen TT,
|
||
Costello MF,
|
||
Boivin J,
|
||
Redman LM,
|
||
Boyle JA,
|
||
Norman RJ,
|
||
Mousa A,
|
||
Joham AE</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2023 Sep 18;108(10):2447-2469.
|
||
doi: 10.1210/clinem/dgad463.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37580314" target="_blank">37580314</a><a href="/pmc/articles/PMC10505534" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(macrocephaly-developmental%20delay%20syndrome)%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 (2367)</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/39828312">Miyazaki syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tavares J,
|
||
Reizinho C,
|
||
Luís A</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2025 Jan 19;18(1)
|
||
doi: 10.1136/bcr-2024-263801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39828312" target="_blank">39828312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35029783">Diagnosis and Management of Acute Aortic Syndromes: Dissection, Penetrating Aortic Ulcer, and Intramural Hematoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sorber R,
|
||
Hicks CW</span><br />
|
||
<span class="medgenPMjournal">Curr Cardiol Rep</span>
|
||
2022 Mar;24(3):209-216.
|
||
Epub 2022 Jan 14
|
||
doi: 10.1007/s11886-022-01642-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35029783" target="_blank">35029783</a><a href="/pmc/articles/PMC9834910" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34794692">Acute Aortic Syndrome Revisited: JACC State-of-the-Art Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vilacosta I,
|
||
San Román JA,
|
||
di Bartolomeo R,
|
||
Eagle K,
|
||
Estrera AL,
|
||
Ferrera C,
|
||
Kaji S,
|
||
Nienaber CA,
|
||
Riambau V,
|
||
Schäfers HJ,
|
||
Serrano FJ,
|
||
Song JK,
|
||
Maroto L</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2021 Nov 23;78(21):2106-2125.
|
||
doi: 10.1016/j.jacc.2021.09.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34794692" target="_blank">34794692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30385743">Gastroparesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camilleri M,
|
||
Chedid V,
|
||
Ford AC,
|
||
Haruma K,
|
||
Horowitz M,
|
||
Jones KL,
|
||
Low PA,
|
||
Park SY,
|
||
Parkman HP,
|
||
Stanghellini V</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2018 Nov 1;4(1):41.
|
||
doi: 10.1038/s41572-018-0038-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30385743" target="_blank">30385743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28987425">Thoracic Aortic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strayer RJ</span><br />
|
||
<span class="medgenPMjournal">Emerg Med Clin North Am</span>
|
||
2017 Nov;35(4):713-725.
|
||
doi: 10.1016/j.emc.2017.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28987425" target="_blank">28987425</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macrocephaly-developmental%20delay%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 (16423)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38043967">Benign paroxysmal torticollis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yates T</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;198:241-247.
|
||
doi: 10.1016/B978-0-12-823356-6.00013-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38043967" target="_blank">38043967</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35029783">Diagnosis and Management of Acute Aortic Syndromes: Dissection, Penetrating Aortic Ulcer, and Intramural Hematoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sorber R,
|
||
Hicks CW</span><br />
|
||
<span class="medgenPMjournal">Curr Cardiol Rep</span>
|
||
2022 Mar;24(3):209-216.
|
||
Epub 2022 Jan 14
|
||
doi: 10.1007/s11886-022-01642-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35029783" target="_blank">35029783</a><a href="/pmc/articles/PMC9834910" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32358680">Diagnosis and management of acute aortic syndromes in the emergency department.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morello F,
|
||
Santoro M,
|
||
Fargion AT,
|
||
Grifoni S,
|
||
Nazerian P</span><br />
|
||
<span class="medgenPMjournal">Intern Emerg Med</span>
|
||
2021 Jan;16(1):171-181.
|
||
Epub 2020 May 1
|
||
doi: 10.1007/s11739-020-02354-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32358680" target="_blank">32358680</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32487722">Tardive syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mulroy E,
|
||
Balint B,
|
||
Bhatia KP</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2020 Oct;20(5):368-376.
|
||
Epub 2020 Jun 2
|
||
doi: 10.1136/practneurol-2020-002566.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32487722" target="_blank">32487722</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28987425">Thoracic Aortic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strayer RJ</span><br />
|
||
<span class="medgenPMjournal">Emerg Med Clin North Am</span>
|
||
2017 Nov;35(4):713-725.
|
||
doi: 10.1016/j.emc.2017.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28987425" target="_blank">28987425</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macrocephaly-developmental%20delay%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 (19306)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39828312">Miyazaki syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tavares J,
|
||
Reizinho C,
|
||
Luís A</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2025 Jan 19;18(1)
|
||
doi: 10.1136/bcr-2024-263801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39828312" target="_blank">39828312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34842596">Update on Food protein-induced enterocolitis syndrome (FPIES).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calvani M,
|
||
Anania C,
|
||
Bianchi A,
|
||
D'Auria E,
|
||
Cardinale F,
|
||
Votto M,
|
||
Martelli A,
|
||
Tosca M,
|
||
Chiappini E,
|
||
Brambilla I,
|
||
Miraglia Del Giudice M,
|
||
Caffarelli C</span><br />
|
||
<span class="medgenPMjournal">Acta Biomed</span>
|
||
2021 Nov 29;92(S7):e2021518.
|
||
doi: 10.23750/abm.v92iS7.12394.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34842596" target="_blank">34842596</a><a href="/pmc/articles/PMC9431892" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32487722">Tardive syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mulroy E,
|
||
Balint B,
|
||
Bhatia KP</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2020 Oct;20(5):368-376.
|
||
Epub 2020 Jun 2
|
||
doi: 10.1136/practneurol-2020-002566.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32487722" target="_blank">32487722</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30827784">Frozen versus fresh single blastocyst transfer in ovulatory women: a multicentre, randomised controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei D,
|
||
Liu JY,
|
||
Sun Y,
|
||
Shi Y,
|
||
Zhang B,
|
||
Liu JQ,
|
||
Tan J,
|
||
Liang X,
|
||
Cao Y,
|
||
Wang Z,
|
||
Qin Y,
|
||
Zhao H,
|
||
Zhou Y,
|
||
Ren H,
|
||
Hao G,
|
||
Ling X,
|
||
Zhao J,
|
||
Zhang Y,
|
||
Qi X,
|
||
Zhang L,
|
||
Deng X,
|
||
Chen X,
|
||
Zhu Y,
|
||
Wang X,
|
||
Tian LF,
|
||
Lv Q,
|
||
Ma X,
|
||
Zhang H,
|
||
Legro RS,
|
||
Chen ZJ</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2019 Mar 30;393(10178):1310-1318.
|
||
Epub 2019 Feb 28
|
||
doi: 10.1016/S0140-6736(18)32843-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30827784" target="_blank">30827784</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28168570">Early enteral nutrition in critically ill patients: ESICM clinical practice guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reintam Blaser A,
|
||
Starkopf J,
|
||
Alhazzani W,
|
||
Berger MM,
|
||
Casaer MP,
|
||
Deane AM,
|
||
Fruhwald S,
|
||
Hiesmayr M,
|
||
Ichai C,
|
||
Jakob SM,
|
||
Loudet CI,
|
||
Malbrain ML,
|
||
Montejo González JC,
|
||
Paugam-Burtz C,
|
||
Poeze M,
|
||
Preiser JC,
|
||
Singer P,
|
||
van Zanten AR,
|
||
De Waele J,
|
||
Wendon J,
|
||
Wernerman J,
|
||
Whitehouse T,
|
||
Wilmer A,
|
||
Oudemans-van Straaten HM;
|
||
ESICM Working Group on Gastrointestinal Function</span><br />
|
||
<span class="medgenPMjournal">Intensive Care Med</span>
|
||
2017 Mar;43(3):380-398.
|
||
Epub 2017 Feb 6
|
||
doi: 10.1007/s00134-016-4665-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28168570" target="_blank">28168570</a><a href="/pmc/articles/PMC5323492" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macrocephaly-developmental%20delay%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 (11260)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31414570">Congenital hyperinsulinism disorders: Genetic and clinical characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenfeld E,
|
||
Ganguly A,
|
||
De Leon DD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2019 Dec;181(4):682-692.
|
||
Epub 2019 Aug 14
|
||
doi: 10.1002/ajmg.c.31737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31414570" target="_blank">31414570</a><a href="/pmc/articles/PMC7229866" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31169646">The Natural History of Early-onset Scoliosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karol LA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43.
|
||
doi: 10.1097/BPO.0000000000001351.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31169646" target="_blank">31169646</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25027666">Clinically isolated syndromes and the relationship to multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brownlee WJ,
|
||
Miller DH</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2014 Dec;21(12):2065-71.
|
||
Epub 2014 Jul 11
|
||
doi: 10.1016/j.jocn.2014.02.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25027666" target="_blank">25027666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12228039">Food allergies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Leary PF,
|
||
Shanahan F</span><br />
|
||
<span class="medgenPMjournal">Curr Gastroenterol Rep</span>
|
||
2002 Oct;4(5):373-82.
|
||
doi: 10.1007/s11894-002-0007-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12228039" target="_blank">12228039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11588539">Small intestinal neoplasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gill SS,
|
||
Heuman DM,
|
||
Mihas AA</span><br />
|
||
<span class="medgenPMjournal">J Clin Gastroenterol</span>
|
||
2001 Oct;33(4):267-82.
|
||
doi: 10.1097/00004836-200110000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11588539" target="_blank">11588539</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macrocephaly-developmental%20delay%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 (8993)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38066937">Medical consult: aHUS, TTP? How to distinguish and what to do.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Story CM,
|
||
Gerber GF,
|
||
Chaturvedi S</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2023 Dec 8;2023(1):745-753.
|
||
doi: 10.1182/hematology.2023000501.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38066937" target="_blank">38066937</a><a href="/pmc/articles/PMC10727109" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573342">Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanchez-Jimeno C,
|
||
Blanco-Kelly F,
|
||
López-Grondona F,
|
||
Losada-Del Pozo R,
|
||
Moreno B,
|
||
Rodrigo-Moreno M,
|
||
Martinez-Cayuelas E,
|
||
Riveiro-Alvarez R,
|
||
Fenollar-Cortés M,
|
||
Ayuso C,
|
||
Rodríguez de Alba M,
|
||
Lorda-Sanchez I,
|
||
Almoguera B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 30;12(9)
|
||
doi: 10.3390/genes12091360.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573342" target="_blank">34573342</a><a href="/pmc/articles/PMC8471078" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31414570">Congenital hyperinsulinism disorders: Genetic and clinical characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenfeld E,
|
||
Ganguly A,
|
||
De Leon DD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2019 Dec;181(4):682-692.
|
||
Epub 2019 Aug 14
|
||
doi: 10.1002/ajmg.c.31737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31414570" target="_blank">31414570</a><a href="/pmc/articles/PMC7229866" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25027666">Clinically isolated syndromes and the relationship to multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brownlee WJ,
|
||
Miller DH</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2014 Dec;21(12):2065-71.
|
||
Epub 2014 Jul 11
|
||
doi: 10.1016/j.jocn.2014.02.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25027666" target="_blank">25027666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12872814">The phenotype of patients with 4q-syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strehle EM,
|
||
Bantock HM</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2003;14(2):195-205.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12872814" target="_blank">12872814</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macrocephaly-developmental%20delay%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 (10097)</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/37043039">Effectiveness of physical therapy in axillary web syndrome after breast cancer: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">González-Rubino JB,
|
||
Vinolo-Gil MJ,
|
||
Martín-Valero R</span><br />
|
||
<span class="medgenPMjournal">Support Care Cancer</span>
|
||
2023 Apr 12;31(5):257.
|
||
doi: 10.1007/s00520-023-07666-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37043039" target="_blank">37043039</a><a href="/pmc/articles/PMC10097759" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35268010">Vitamin Supplementation and Dementia: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gil Martínez V,
|
||
Avedillo Salas A,
|
||
Santander Ballestín S</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2022 Feb 28;14(5)
|
||
doi: 10.3390/nu14051033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35268010" target="_blank">35268010</a><a href="/pmc/articles/PMC8912288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30808424">Congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Feb 26;14(1):57.
|
||
doi: 10.1186/s13023-019-1025-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30808424" target="_blank">30808424</a><a href="/pmc/articles/PMC6390566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29137682">Cefepime-induced neurotoxicity: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Payne LE,
|
||
Gagnon DJ,
|
||
Riker RR,
|
||
Seder DB,
|
||
Glisic EK,
|
||
Morris JG,
|
||
Fraser GL</span><br />
|
||
<span class="medgenPMjournal">Crit Care</span>
|
||
2017 Nov 14;21(1):276.
|
||
doi: 10.1186/s13054-017-1856-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29137682" target="_blank">29137682</a><a href="/pmc/articles/PMC5686900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17908730">Swaddling: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Sleuwen BE,
|
||
Engelberts AC,
|
||
Boere-Boonekamp MM,
|
||
Kuis W,
|
||
Schulpen TW,
|
||
L'Hoir MP</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2007 Oct;120(4):e1097-106.
|
||
doi: 10.1542/peds.2006-2083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17908730" target="_blank">17908730</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macrocephaly-developmental%20delay%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 (605)</a></div></div>
|
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</div>
|
||
</div></div></div></div></div></div></div>
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||
<div id="messagearea_bottom">
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</div>
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<div class=" bottom">
|
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||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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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 id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3810225%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C3810225%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C3810225%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3810225%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=615637" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=397612" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Macrocephaly-developmental%20delay%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(macrocephaly-developmental%20delay%20syndrome)%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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||
|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=615620" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=11133[geneid]" target="_blank">View KPTN variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=615637" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/intellectual_developmental_disorder_autosomal_recessive_41" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Macrocephaly-developmental%20delay%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17630/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
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|
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<div class="portlet brieflink">
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Reviews</h3>
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</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
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<ul>
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||
<li>
|
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<a href="/pubmed/39083632" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Macrocephaly-developmental%20delay%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Macrocephaly-developmental%20delay%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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||
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|
||
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|
||
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|
||
</div>
|
||
|
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<!-- MedGen supplemental column ends here -->
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||
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<h3>Related information</h3>
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|
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=816555" ref="log$=recordlinks">ClinVar</a>
|
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=816555" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3810225[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3810225[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=816555" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=816555" ref="log$=recordlinks">OMIM(Genes)</a>
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=816555" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=816555" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=816555" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=816555" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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|
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca7719b15b832ebc56f3bc">Macrocephaly-developmental delay syndrome</a>
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<div class="ralinkpop offscreen_noflow">Macrocephaly-developmental delay syndrome<div class="brieflinkpopdesc"></div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca7716a68b6b5afcbba860">C1865145[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(402)</span></a>
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<div class="ralinkpop offscreen_noflow">C1865145[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca771584f3725e598386b3">MPI-congenital disorder of glycosylation</a>
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<div class="ralinkpop offscreen_noflow">MPI-congenital disorder of glycosylation<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ca771484f3725e598382ba">C1865145[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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