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<meta name="keywords" content="C0796237, disease or syndrome, intellectual developmental disorder, x-linked 30, intellectual developmental disorder, x-linked 30, x-linked recessive, intellectual disability, x-linked 30, intellectual disability, x-linked 47, intellectual disability, x-linked type 30, mental retardation, x-linked 30, mental retardation, x-linked 47, mental retardation, x-linked type 30, mrx30, non-syndromic x-linked intellectual disability caused by mutation in pak3, pak3, pak3 non-syndromic x-linked intellectual disability, xlid30, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=163235
|
||
ConceptID=C0796237
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, X-linked 30<span class="h1sub">(XLID30)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163235</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:">C0796237</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30; MENTAL RETARDATION, X-LINKED 47; XLID30</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="PAK3 - ID: 5063 - NCBI Gene" href="/gene/5063" class="medgenPMinfo">PAK3</a> (Xq23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010361" target="_blank">MONDO:0010361</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300558" target="_blank">300558</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488785"><div><strong>Macrotia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488785</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488785">Feature record</a> | <a href="/medgen?term=%22Macrotia%22%5BClinical%20Features%5D%20OR%20488785%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</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.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19568"><div><strong>Psychotic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19568</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.">C0033975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19568">Feature record</a> | <a href="/medgen?term=%22Psychotic%20disorder%22%5BClinical%20Features%5D%20OR%2019568%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48638"><div><strong>Intellectual disability, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48638</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48638">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20severe%22%5BClinical%20Features%5D%20OR%2048638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88447"><div><strong>Agitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88447</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0085631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88447">Feature record</a> | <a href="/medgen?term=%22Agitation%22%5BClinical%20Features%5D%20OR%2088447%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66690"><div><strong>Clumsiness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66690</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.">C0233844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66690">Feature record</a> | <a href="/medgen?term=%22Clumsiness%22%5BClinical%20Features%5D%20OR%2066690%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66034"><div><strong>Delayed ability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66034</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.">C0241726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20walk%22%5BClinical%20Features%5D%20OR%2066034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82652"><div><strong>Short attention span</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82652</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.">C0262630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced attention span characterized by distractibility and impulsivity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82652">Feature record</a> | <a href="/medgen?term=%22Short%20attention%20span%22%5BClinical%20Features%5D%20OR%2082652%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98406"><div><strong>Hyperactivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98406</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0424295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98406">Feature record</a> | <a href="/medgen?term=%22Hyperactivity%22%5BClinical%20Features%5D%20OR%2098406%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_332508"><div><strong>Delayed gross motor development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332508</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.">C1837658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332508">Feature record</a> | <a href="/medgen?term=%22Delayed%20gross%20motor%20development%22%5BClinical%20Features%5D%20OR%20332508%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341172"><div><strong>Poor speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341172</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.">C1848207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341172">Feature record</a> | <a href="/medgen?term=%22Poor%20speech%22%5BClinical%20Features%5D%20OR%20341172%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_382164"><div><strong>Brisk reflexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382164</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.">C2673700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382164">Feature record</a> | <a href="/medgen?term=%22Brisk%20reflexes%22%5BClinical%20Features%5D%20OR%20382164%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_854457"><div><strong>Restlessness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854457</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.">C3887611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854457">Feature record</a> | <a href="/medgen?term=%22Restlessness%22%5BClinical%20Features%5D%20OR%20854457%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_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8484"><div><strong>Drooling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8484</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.">C0013132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Habitual flow of saliva out of the mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8484">Feature record</a> | <a href="/medgen?term=%22Drooling%22%5BClinical%20Features%5D%20OR%208484%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116104"><div><strong>Open mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116104</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.">C0240379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A facial appearance characterized by a permanently or nearly permanently opened mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116104">Feature record</a> | <a href="/medgen?term=%22Open%20mouth%22%5BClinical%20Features%5D%20OR%20116104%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_98390"><div><strong>Upslanted palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98390</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.">C0423109</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 above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98390">Feature record</a> | <a href="/medgen?term=%22Upslanted%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%2098390%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</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.">C1840077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333982"><div><strong>Prominent supraorbital ridges</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333982</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333982">Feature record</a> | <a href="/medgen?term=%22Prominent%20supraorbital%20ridges%22%5BClinical%20Features%5D%20OR%20333982%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339521"><div><strong>Thick upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339521</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.">C1846423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339521">Feature record</a> | <a href="/medgen?term=%22Thick%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20339521%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342829"><div><strong>Flat face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342829</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.">C1853241</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of concavity or convexity of the face when viewed in profile.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342829">Feature record</a> | <a href="/medgen?term=%22Flat%20face%22%5BClinical%20Features%5D%20OR%20342829%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343051"><div><strong>Prominent nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343051</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior positioning of the nasal root in comparison to the usual positioning for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343051">Feature record</a> | <a href="/medgen?term=%22Prominent%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20343051%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343052"><div><strong>Short nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343052</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.">C1854114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343052">Feature record</a> | <a href="/medgen?term=%22Short%20nose%22%5BClinical%20Features%5D%20OR%20343052%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346640"><div><strong>Sloping forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346640</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.">C1857679</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346640">Feature record</a> | <a href="/medgen?term=%22Sloping%20forehead%22%5BClinical%20Features%5D%20OR%20346640%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355352"><div><strong>Thin upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355352</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.">C1865017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355352">Feature record</a> | <a href="/medgen?term=%22Thin%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20355352%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_473112"><div><strong>Deeply set eye</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473112</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An eye that is more deeply recessed into the plane of the face than is typical.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473112">Feature record</a> | <a href="/medgen?term=%22Deeply%20set%20eye%22%5BClinical%20Features%5D%20OR%20473112%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8484" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Drooling</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flat face</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_116104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Open mouth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343051" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent supraorbital ridges</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short nose</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sloping forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339521" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick upper lip vermilion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin upper lip vermilion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upslanted palpebral fissure</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deeply set eye</a></span></li></ul></li><li><span class="TLline">Abnormality of the 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_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_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agitation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_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_382164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brisk reflexes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66690" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clumsiness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed gross motor development</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_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_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperactivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341172" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Psychotic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854457" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restlessness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short attention span</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrotia</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36373727">An update on the diagnosis and treatment of adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gujral J,
|
||
Sethuram S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2023 Feb 1;30(1):44-51.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1097/MED.0000000000000782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36373727" target="_blank">36373727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31841242">Anesthetic management of pediatric patients diagnosed with X-linked adrenoleukodystrophy: A single-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kloesel B,
|
||
Dua N,
|
||
Eskuri R,
|
||
Hall J,
|
||
Cohen M,
|
||
Richtsfeld M,
|
||
Belani K</span><br />
|
||
<span class="medgenPMjournal">Paediatr Anaesth</span>
|
||
2020 Feb;30(2):124-136.
|
||
Epub 2019 Dec 26
|
||
doi: 10.1111/pan.13786.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31841242" target="_blank">31841242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30309370">Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bessey A,
|
||
Chilcott JB,
|
||
Leaviss J,
|
||
Sutton A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 Oct 11;13(1):179.
|
||
doi: 10.1186/s13023-018-0921-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30309370" target="_blank">30309370</a><a href="/pmc/articles/PMC6182830" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20x-linked%2030)%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 (10)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan CN,
|
||
Musolino PL,
|
||
Lund TC,
|
||
Gupta AO,
|
||
De Oliveira S,
|
||
Thrasher AJ,
|
||
Aubourg P,
|
||
Kühl JS,
|
||
Loes DJ,
|
||
Amartino H,
|
||
Smith N,
|
||
Folloni Fernandes J,
|
||
Sevin C,
|
||
Sankar R,
|
||
Hussain SA,
|
||
Gissen P,
|
||
Dalle JH,
|
||
Platzbecker U,
|
||
Downey GF,
|
||
McNeil E,
|
||
Demopoulos L,
|
||
Dietz AC,
|
||
Thakar HL,
|
||
Orchard PJ,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1302-1312.
|
||
doi: 10.1056/NEJMoa2400442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38539105">Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shchubelka K,
|
||
Turova L,
|
||
Wolfsberger W,
|
||
Kalanquin K,
|
||
Williston K,
|
||
Kurutsa O,
|
||
Makovetska A,
|
||
Hasynets Y,
|
||
Mirutenko V,
|
||
Vakerych M,
|
||
Oleksyk TK</span><br />
|
||
<span class="medgenPMjournal">J Neurodev Disord</span>
|
||
2024 Mar 27;16(1):13.
|
||
doi: 10.1186/s11689-024-09528-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38539105" target="_blank">38539105</a><a href="/pmc/articles/PMC10967201" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37882106">Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura A,
|
||
Matsumura T,
|
||
Ogata K,
|
||
Mori-Yoshimura M,
|
||
Takeshita E,
|
||
Kimura K,
|
||
Kawashima T,
|
||
Tomo Y,
|
||
Arahata H,
|
||
Miyazaki D,
|
||
Takeshima Y,
|
||
Takahashi T,
|
||
Ishigaki K,
|
||
Kuru S,
|
||
Wakisaka A,
|
||
Awano H,
|
||
Funato M,
|
||
Sato T,
|
||
Saito Y,
|
||
Takada H,
|
||
Sugie K,
|
||
Kobayashi M,
|
||
Ozasa S,
|
||
Fujii T,
|
||
Maegaki Y,
|
||
Oi H,
|
||
Tachimori H,
|
||
Komaki H</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2023 Dec;10(12):2360-2372.
|
||
Epub 2023 Oct 26
|
||
doi: 10.1002/acn3.51925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37882106" target="_blank">37882106</a><a href="/pmc/articles/PMC10723226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30902905">MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liberato AP,
|
||
Mallack EJ,
|
||
Aziz-Bose R,
|
||
Hayden D,
|
||
Lauer A,
|
||
Caruso PA,
|
||
Musolino PL,
|
||
Eichler FS</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Apr 9;92(15):e1698-e1708.
|
||
Epub 2019 Mar 22
|
||
doi: 10.1212/WNL.0000000000007294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30902905" target="_blank">30902905</a><a href="/pmc/articles/PMC6511088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18971887">X-linked mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lisik MZ,
|
||
Sieron AL</span><br />
|
||
<span class="medgenPMjournal">Med Sci Monit</span>
|
||
2008 Nov;14(11):RA221-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18971887" target="_blank">18971887</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%2030%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 (91)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan CN,
|
||
Musolino PL,
|
||
Lund TC,
|
||
Gupta AO,
|
||
De Oliveira S,
|
||
Thrasher AJ,
|
||
Aubourg P,
|
||
Kühl JS,
|
||
Loes DJ,
|
||
Amartino H,
|
||
Smith N,
|
||
Folloni Fernandes J,
|
||
Sevin C,
|
||
Sankar R,
|
||
Hussain SA,
|
||
Gissen P,
|
||
Dalle JH,
|
||
Platzbecker U,
|
||
Downey GF,
|
||
McNeil E,
|
||
Demopoulos L,
|
||
Dietz AC,
|
||
Thakar HL,
|
||
Orchard PJ,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1302-1312.
|
||
doi: 10.1056/NEJMoa2400442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36373727">An update on the diagnosis and treatment of adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gujral J,
|
||
Sethuram S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2023 Feb 1;30(1):44-51.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1097/MED.0000000000000782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36373727" target="_blank">36373727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34058389">In vivo gene editing via homology-independent targeted integration for adrenoleukodystrophy treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong SA,
|
||
Seo JH,
|
||
Wi S,
|
||
Jung ES,
|
||
Yu J,
|
||
Hwang GH,
|
||
Yu JH,
|
||
Baek A,
|
||
Park S,
|
||
Bae S,
|
||
Cho SR</span><br />
|
||
<span class="medgenPMjournal">Mol Ther</span>
|
||
2022 Jan 5;30(1):119-129.
|
||
Epub 2021 May 29
|
||
doi: 10.1016/j.ymthe.2021.05.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34058389" target="_blank">34058389</a><a href="/pmc/articles/PMC8753287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30902905">MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liberato AP,
|
||
Mallack EJ,
|
||
Aziz-Bose R,
|
||
Hayden D,
|
||
Lauer A,
|
||
Caruso PA,
|
||
Musolino PL,
|
||
Eichler FS</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Apr 9;92(15):e1698-e1708.
|
||
Epub 2019 Mar 22
|
||
doi: 10.1212/WNL.0000000000007294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30902905" target="_blank">30902905</a><a href="/pmc/articles/PMC6511088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28097321">Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reuter MS,
|
||
Tawamie H,
|
||
Buchert R,
|
||
Hosny Gebril O,
|
||
Froukh T,
|
||
Thiel C,
|
||
Uebe S,
|
||
Ekici AB,
|
||
Krumbiegel M,
|
||
Zweier C,
|
||
Hoyer J,
|
||
Eberlein K,
|
||
Bauer J,
|
||
Scheller U,
|
||
Strom TM,
|
||
Hoffjan S,
|
||
Abdelraouf ER,
|
||
Meguid NA,
|
||
Abboud A,
|
||
Al Khateeb MA,
|
||
Fakher M,
|
||
Hamdan S,
|
||
Ismael A,
|
||
Muhammad S,
|
||
Abdallah E,
|
||
Sticht H,
|
||
Wieczorek D,
|
||
Reis A,
|
||
Abou Jamra R</span><br />
|
||
<span class="medgenPMjournal">JAMA Psychiatry</span>
|
||
2017 Mar 1;74(3):293-299.
|
||
doi: 10.1001/jamapsychiatry.2016.3798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28097321" target="_blank">28097321</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%2030%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 (134)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan CN,
|
||
Musolino PL,
|
||
Lund TC,
|
||
Gupta AO,
|
||
De Oliveira S,
|
||
Thrasher AJ,
|
||
Aubourg P,
|
||
Kühl JS,
|
||
Loes DJ,
|
||
Amartino H,
|
||
Smith N,
|
||
Folloni Fernandes J,
|
||
Sevin C,
|
||
Sankar R,
|
||
Hussain SA,
|
||
Gissen P,
|
||
Dalle JH,
|
||
Platzbecker U,
|
||
Downey GF,
|
||
McNeil E,
|
||
Demopoulos L,
|
||
Dietz AC,
|
||
Thakar HL,
|
||
Orchard PJ,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1302-1312.
|
||
doi: 10.1056/NEJMoa2400442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38531017">Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curie A,
|
||
Lion-François L,
|
||
Valayannopoulos V,
|
||
Perreton N,
|
||
Gavanon M,
|
||
Touil N,
|
||
Brun-Laurisse A,
|
||
Gheurbi F,
|
||
Buchy M,
|
||
Halep H,
|
||
Cheillan D,
|
||
Mercier C,
|
||
Brassier A,
|
||
Desnous B,
|
||
Kassai B,
|
||
De Lonlay P,
|
||
Des Portes V</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 Apr 23;102(8):e209243.
|
||
Epub 2024 Mar 26
|
||
doi: 10.1212/WNL.0000000000209243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38531017" target="_blank">38531017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31098852">Targeted Oligonucleotides for Treating Neurodegenerative Tandem Repeat Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zain R,
|
||
Smith CIE</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2019 Apr;16(2):248-262.
|
||
doi: 10.1007/s13311-019-00712-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31098852" target="_blank">31098852</a><a href="/pmc/articles/PMC6554256" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26260157">Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang MY,
|
||
Cai YN,
|
||
Liang CL,
|
||
Peng MZ,
|
||
Sheng HY,
|
||
Fan LP,
|
||
Lin RZ,
|
||
Jiang H,
|
||
Huang Y,
|
||
Liu L</span><br />
|
||
<span class="medgenPMjournal">Metab Brain Dis</span>
|
||
2015 Dec;30(6):1439-44.
|
||
Epub 2015 Aug 12
|
||
doi: 10.1007/s11011-015-9717-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26260157" target="_blank">26260157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12163191">Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naito E,
|
||
Ito M,
|
||
Yokota I,
|
||
Saijo T,
|
||
Ogawa Y,
|
||
Kuroda Y</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2002 Sep 15;201(1-2):33-7.
|
||
doi: 10.1016/s0022-510x(02)00187-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12163191" target="_blank">12163191</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%2030%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 (28)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan CN,
|
||
Musolino PL,
|
||
Lund TC,
|
||
Gupta AO,
|
||
De Oliveira S,
|
||
Thrasher AJ,
|
||
Aubourg P,
|
||
Kühl JS,
|
||
Loes DJ,
|
||
Amartino H,
|
||
Smith N,
|
||
Folloni Fernandes J,
|
||
Sevin C,
|
||
Sankar R,
|
||
Hussain SA,
|
||
Gissen P,
|
||
Dalle JH,
|
||
Platzbecker U,
|
||
Downey GF,
|
||
McNeil E,
|
||
Demopoulos L,
|
||
Dietz AC,
|
||
Thakar HL,
|
||
Orchard PJ,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1302-1312.
|
||
doi: 10.1056/NEJMoa2400442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38539105">Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shchubelka K,
|
||
Turova L,
|
||
Wolfsberger W,
|
||
Kalanquin K,
|
||
Williston K,
|
||
Kurutsa O,
|
||
Makovetska A,
|
||
Hasynets Y,
|
||
Mirutenko V,
|
||
Vakerych M,
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Oleksyk TK</span><br />
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<span class="medgenPMjournal">J Neurodev Disord</span>
|
||
2024 Mar 27;16(1):13.
|
||
doi: 10.1186/s11689-024-09528-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38539105" target="_blank">38539105</a><a href="/pmc/articles/PMC10967201" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37882106">Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura A,
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Matsumura T,
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Ogata K,
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Mori-Yoshimura M,
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Takeshita E,
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Kimura K,
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Kawashima T,
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Tomo Y,
|
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Arahata H,
|
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Miyazaki D,
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Takeshima Y,
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Takahashi T,
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Ishigaki K,
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Kuru S,
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Wakisaka A,
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Awano H,
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Funato M,
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Sato T,
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Saito Y,
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Takada H,
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Sugie K,
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Kobayashi M,
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Ozasa S,
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Fujii T,
|
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Maegaki Y,
|
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Oi H,
|
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Tachimori H,
|
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Komaki H</span><br />
|
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<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2023 Dec;10(12):2360-2372.
|
||
Epub 2023 Oct 26
|
||
doi: 10.1002/acn3.51925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37882106" target="_blank">37882106</a><a href="/pmc/articles/PMC10723226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36373727">An update on the diagnosis and treatment of adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gujral J,
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Sethuram S</span><br />
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<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
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2023 Feb 1;30(1):44-51.
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Epub 2022 Nov 14
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doi: 10.1097/MED.0000000000000782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36373727" target="_blank">36373727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18971887">X-linked mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lisik MZ,
|
||
Sieron AL</span><br />
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<span class="medgenPMjournal">Med Sci Monit</span>
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2008 Nov;14(11):RA221-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18971887" target="_blank">18971887</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%2030%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 (52)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39383459">Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan CN,
|
||
Musolino PL,
|
||
Lund TC,
|
||
Gupta AO,
|
||
De Oliveira S,
|
||
Thrasher AJ,
|
||
Aubourg P,
|
||
Kühl JS,
|
||
Loes DJ,
|
||
Amartino H,
|
||
Smith N,
|
||
Folloni Fernandes J,
|
||
Sevin C,
|
||
Sankar R,
|
||
Hussain SA,
|
||
Gissen P,
|
||
Dalle JH,
|
||
Platzbecker U,
|
||
Downey GF,
|
||
McNeil E,
|
||
Demopoulos L,
|
||
Dietz AC,
|
||
Thakar HL,
|
||
Orchard PJ,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Oct 10;391(14):1302-1312.
|
||
doi: 10.1056/NEJMoa2400442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39383459" target="_blank">39383459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38539105">Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shchubelka K,
|
||
Turova L,
|
||
Wolfsberger W,
|
||
Kalanquin K,
|
||
Williston K,
|
||
Kurutsa O,
|
||
Makovetska A,
|
||
Hasynets Y,
|
||
Mirutenko V,
|
||
Vakerych M,
|
||
Oleksyk TK</span><br />
|
||
<span class="medgenPMjournal">J Neurodev Disord</span>
|
||
2024 Mar 27;16(1):13.
|
||
doi: 10.1186/s11689-024-09528-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38539105" target="_blank">38539105</a><a href="/pmc/articles/PMC10967201" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37882106">Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura A,
|
||
Matsumura T,
|
||
Ogata K,
|
||
Mori-Yoshimura M,
|
||
Takeshita E,
|
||
Kimura K,
|
||
Kawashima T,
|
||
Tomo Y,
|
||
Arahata H,
|
||
Miyazaki D,
|
||
Takeshima Y,
|
||
Takahashi T,
|
||
Ishigaki K,
|
||
Kuru S,
|
||
Wakisaka A,
|
||
Awano H,
|
||
Funato M,
|
||
Sato T,
|
||
Saito Y,
|
||
Takada H,
|
||
Sugie K,
|
||
Kobayashi M,
|
||
Ozasa S,
|
||
Fujii T,
|
||
Maegaki Y,
|
||
Oi H,
|
||
Tachimori H,
|
||
Komaki H</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2023 Dec;10(12):2360-2372.
|
||
Epub 2023 Oct 26
|
||
doi: 10.1002/acn3.51925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37882106" target="_blank">37882106</a><a href="/pmc/articles/PMC10723226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32388833">Epilepsy in children with leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Ban T,
|
||
Zhou L,
|
||
Ji H,
|
||
Yan H,
|
||
Shi Z,
|
||
Cao B,
|
||
Jiang Y,
|
||
Wang J,
|
||
Wu Y</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2020 Sep;267(9):2612-2618.
|
||
Epub 2020 May 9
|
||
doi: 10.1007/s00415-020-09889-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32388833" target="_blank">32388833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30902905">MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liberato AP,
|
||
Mallack EJ,
|
||
Aziz-Bose R,
|
||
Hayden D,
|
||
Lauer A,
|
||
Caruso PA,
|
||
Musolino PL,
|
||
Eichler FS</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Apr 9;92(15):e1698-e1708.
|
||
Epub 2019 Mar 22
|
||
doi: 10.1212/WNL.0000000000007294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30902905" target="_blank">30902905</a><a href="/pmc/articles/PMC6511088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%2030%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 (94)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0796237%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C0796237%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0796237%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C0796237%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0796237%5bDISCUI%5d" target="_blank">See all (27)</a></total></li>
|
||
</ul></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_119">
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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=300558" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Intellectual%20disability,%20X-linked%2030" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_121">
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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=(intellectual%20disability%2C%20x-linked%2030)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
<div class="portlet 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=300142" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5063[geneid]" target="_blank">View PAK3 variations in ClinVar</a></li><li><a href="/nuccore/194440662" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=300558" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/intellectual_developmental_disorder_x_linked_30" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Intellectual%20disability,%20X-linked%2030" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/22682/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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||
<h3>Reviews</h3>
|
||
</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>
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||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Intellectual%20disability,%20X-linked%2030" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Intellectual%20disability,%20X-linked%2030%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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