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<meta name="keywords" content="C5829568, intellectual developmental disorder, x-linked 111, mental or behavioral dysfunction, slitrk2, xlid111, 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="X-linked intellectual developmental disorder-111 (XLID111) is a neurodevelopmental disorder characterized by different degrees of impaired intellectual development associated with motor, speech, and behavioral impairments (El Chehadeh et al., 2022)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1840204
|
||
ConceptID=C5829568
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual developmental disorder, X-linked 111<span class="h1sub">(XLID111)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840204</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:">C5829568</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>XLID111</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="SLITRK2 - ID: 84631 - NCBI Gene" href="/gene/84631" class="medgenPMinfo">SLITRK2</a> (Xq27.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0957203" target="_blank">MONDO:0957203</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/301107" target="_blank">301107</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">X-linked intellectual developmental disorder-111 (XLID111) is a neurodevelopmental disorder characterized by different degrees of impaired intellectual development associated with motor, speech, and behavioral impairments (El Chehadeh et al., 2022). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%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_854"><div><strong>Cerebral palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854</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.">C0007789</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854">Feature record</a> | <a href="/medgen?term=%22Cerebral%20palsy%22%5BClinical%20Features%5D%20OR%20854%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%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_68544"><div><strong>Unsteady gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68544</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.">C0231686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A shaky or wobbly manner of walking.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68544">Feature record</a> | <a href="/medgen?term=%22Unsteady%20gait%22%5BClinical%20Features%5D%20OR%2068544%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_96560"><div><strong>Corpus callosum atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96560</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.">C0431370</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of atrophy (wasting) of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96560">Feature record</a> | <a href="/medgen?term=%22Corpus%20callosum%20atrophy%22%5BClinical%20Features%5D%20OR%2096560%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_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_109373"><div><strong>Compulsive behaviors</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>109373</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0600104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/109373">Feature record</a> | <a href="/medgen?term=%22Compulsive%20behaviors%22%5BClinical%20Features%5D%20OR%20109373%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155955"><div><strong>Phonic tics</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155955</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.">C0751901</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155955">Feature record</a> | <a href="/medgen?term=%22Phonic%20tics%22%5BClinical%20Features%5D%20OR%20155955%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</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.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_939097"><div><strong>Hippocampal atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>939097</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.">C4315130</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Partial or complete wasting (loss) of hippocampus tissue that was once present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/939097">Feature record</a> | <a href="/medgen?term=%22Hippocampal%20atrophy%22%5BClinical%20Features%5D%20OR%20939097%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1785336"><div><strong>Thin corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785336</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.">C5441562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785336">Feature record</a> | <a href="/medgen?term=%22Thin%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%201785336%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1815057"><div><strong>Reduced cerebral white matter volume</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1815057</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.">C5706151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally low volume of the white matter of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1815057">Feature record</a> | <a href="/medgen?term=%22Reduced%20cerebral%20white%20matter%20volume%22%5BClinical%20Features%5D%20OR%201815057%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154361"><div><strong>Kyphoscoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154361</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.">C0575158</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154361">Feature record</a> | <a href="/medgen?term=%22Kyphoscoliosis%22%5BClinical%20Features%5D%20OR%20154361%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 the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</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_154361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphoscoliosis</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_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><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_1613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anxiety</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral palsy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_109373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Compulsive behaviors</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corpus callosum atrophy</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_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</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_939097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hippocampal atrophy</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_155955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phonic tics</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1815057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced cerebral white matter volume</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_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1785336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68544" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unsteady gait</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</a></span></li></ul></li></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/33176815">Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin L,
|
||
Zhang Y,
|
||
Pan H,
|
||
Wang J,
|
||
Qi Y,
|
||
Ma Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Nov 11;15(1):317.
|
||
doi: 10.1186/s13023-020-01599-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33176815" target="_blank">33176815</a><a href="/pmc/articles/PMC7656751" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25425167">Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nizon M,
|
||
Andrieux J,
|
||
Rooryck C,
|
||
de Blois MC,
|
||
Bourel-Ponchel E,
|
||
Bourgois B,
|
||
Boute O,
|
||
David A,
|
||
Delobel B,
|
||
Duban-Bedu B,
|
||
Giuliano F,
|
||
Goldenberg A,
|
||
Grotto S,
|
||
Héron D,
|
||
Karmous-Benailly H,
|
||
Keren B,
|
||
Lacombe D,
|
||
Lapierre JM,
|
||
Le Caignec C,
|
||
Le Galloudec E,
|
||
Le Merrer M,
|
||
Le Moing AG,
|
||
Mathieu-Dramard M,
|
||
Nusbaum S,
|
||
Pichon O,
|
||
Pinson L,
|
||
Raoul O,
|
||
Rio M,
|
||
Romana S,
|
||
Roubertie A,
|
||
Colleaux L,
|
||
Turleau C,
|
||
Vekemans M,
|
||
Nabbout R,
|
||
Malan V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2015 Jan;167A(1):111-22.
|
||
Epub 2014 Nov 25
|
||
doi: 10.1002/ajmg.a.36807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25425167" target="_blank">25425167</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24268529">Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Theda C,
|
||
Gibbons K,
|
||
Defor TE,
|
||
Donohue PK,
|
||
Golden WC,
|
||
Kline AD,
|
||
Gulamali-Majid F,
|
||
Panny SR,
|
||
Hubbard WC,
|
||
Jones RO,
|
||
Liu AK,
|
||
Moser AB,
|
||
Raymond GV</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2014 Jan;111(1):55-7.
|
||
Epub 2013 Nov 9
|
||
doi: 10.1016/j.ymgme.2013.10.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24268529" target="_blank">24268529</a><a href="/pmc/articles/PMC3935823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20developmental%20disorder%2C%20x-linked%20111)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (6)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38452609">ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldstein J,
|
||
Thomas-Wilson A,
|
||
Groopman E,
|
||
Aggarwal V,
|
||
Bianconi S,
|
||
Fernandez R,
|
||
Hart K,
|
||
Longo N,
|
||
Liang N,
|
||
Reich D,
|
||
Wallis H,
|
||
Weaver M,
|
||
Young S,
|
||
Mercimek-Andrews S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2024 May;142(1):108362.
|
||
Epub 2024 Mar 2
|
||
doi: 10.1016/j.ymgme.2024.108362.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38452609" target="_blank">38452609</a><a href="/pmc/articles/PMC11874059" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38325380">Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shepherdson JL,
|
||
Hutchison K,
|
||
Don DW,
|
||
McGillivray G,
|
||
Choi TI,
|
||
Allan CA,
|
||
Amor DJ,
|
||
Banka S,
|
||
Basel DG,
|
||
Buch LD,
|
||
Carere DA,
|
||
Carroll R,
|
||
Clayton-Smith J,
|
||
Crawford A,
|
||
Dunø M,
|
||
Faivre L,
|
||
Gilfillan CP,
|
||
Gold NB,
|
||
Gripp KW,
|
||
Hobson E,
|
||
Holtz AM,
|
||
Innes AM,
|
||
Isidor B,
|
||
Jackson A,
|
||
Katsonis P,
|
||
Amel Riazat Kesh L;
|
||
Genomics England Research Consortium,
|
||
Küry S,
|
||
Lecoquierre F,
|
||
Lockhart P,
|
||
Maraval J,
|
||
Matsumoto N,
|
||
McCarrier J,
|
||
McCarthy J,
|
||
Miyake N,
|
||
Moey LH,
|
||
Németh AH,
|
||
Østergaard E,
|
||
Patel R,
|
||
Pope K,
|
||
Posey JE,
|
||
Schnur RE,
|
||
Shaw M,
|
||
Stolerman E,
|
||
Taylor JP,
|
||
Wadman E,
|
||
Wakeling E,
|
||
White SM,
|
||
Wong LC,
|
||
Lupski JR,
|
||
Lichtarge O,
|
||
Corbett MA,
|
||
Gecz J,
|
||
Nicolet CM,
|
||
Farnham PJ,
|
||
Kim CH,
|
||
Shinawi M</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2024 Mar 7;111(3):487-508.
|
||
Epub 2024 Feb 6
|
||
doi: 10.1016/j.ajhg.2024.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38325380" target="_blank">38325380</a><a href="/pmc/articles/PMC10940019" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24268529">Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Theda C,
|
||
Gibbons K,
|
||
Defor TE,
|
||
Donohue PK,
|
||
Golden WC,
|
||
Kline AD,
|
||
Gulamali-Majid F,
|
||
Panny SR,
|
||
Hubbard WC,
|
||
Jones RO,
|
||
Liu AK,
|
||
Moser AB,
|
||
Raymond GV</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2014 Jan;111(1):55-7.
|
||
Epub 2013 Nov 9
|
||
doi: 10.1016/j.ymgme.2013.10.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24268529" target="_blank">24268529</a><a href="/pmc/articles/PMC3935823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18310361">Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cronister A,
|
||
Teicher J,
|
||
Rohlfs EM,
|
||
Donnenfeld A,
|
||
Hallam S</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2008 Mar;111(3):596-601.
|
||
doi: 10.1097/AOG.0b013e318163be0b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18310361" target="_blank">18310361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3289682">Clinical concepts of Duchenne muscular dystrophy. The impact of molecular genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rowland LP</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
1988 Jun;111 ( Pt 3):479-95.
|
||
doi: 10.1093/brain/111.3.479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3289682" target="_blank">3289682</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2C%20X-linked%20111%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38452609">ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldstein J,
|
||
Thomas-Wilson A,
|
||
Groopman E,
|
||
Aggarwal V,
|
||
Bianconi S,
|
||
Fernandez R,
|
||
Hart K,
|
||
Longo N,
|
||
Liang N,
|
||
Reich D,
|
||
Wallis H,
|
||
Weaver M,
|
||
Young S,
|
||
Mercimek-Andrews S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2024 May;142(1):108362.
|
||
Epub 2024 Mar 2
|
||
doi: 10.1016/j.ymgme.2024.108362.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38452609" target="_blank">38452609</a><a href="/pmc/articles/PMC11874059" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33176815">Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin L,
|
||
Zhang Y,
|
||
Pan H,
|
||
Wang J,
|
||
Qi Y,
|
||
Ma Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Nov 11;15(1):317.
|
||
doi: 10.1186/s13023-020-01599-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33176815" target="_blank">33176815</a><a href="/pmc/articles/PMC7656751" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24268529">Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Theda C,
|
||
Gibbons K,
|
||
Defor TE,
|
||
Donohue PK,
|
||
Golden WC,
|
||
Kline AD,
|
||
Gulamali-Majid F,
|
||
Panny SR,
|
||
Hubbard WC,
|
||
Jones RO,
|
||
Liu AK,
|
||
Moser AB,
|
||
Raymond GV</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2014 Jan;111(1):55-7.
|
||
Epub 2013 Nov 9
|
||
doi: 10.1016/j.ymgme.2013.10.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24268529" target="_blank">24268529</a><a href="/pmc/articles/PMC3935823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622180">X-linked mental deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">des Portes V</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;111:297-306.
|
||
doi: 10.1016/B978-0-444-52891-9.00035-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622180" target="_blank">23622180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3289682">Clinical concepts of Duchenne muscular dystrophy. The impact of molecular genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rowland LP</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
1988 Jun;111 ( Pt 3):479-95.
|
||
doi: 10.1093/brain/111.3.479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3289682" target="_blank">3289682</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2C%20X-linked%20111%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 (10)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26994527">X inactivation and reactivation in X-linked diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vacca M,
|
||
Della Ragione F,
|
||
Scalabrì F,
|
||
D'Esposito M</span><br />
|
||
<span class="medgenPMjournal">Semin Cell Dev Biol</span>
|
||
2016 Aug;56:78-87.
|
||
Epub 2016 Mar 17
|
||
doi: 10.1016/j.semcdb.2016.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26994527" target="_blank">26994527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25136103">Genetic and pharmacological reactivation of the mammalian inactive X chromosome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatnagar S,
|
||
Zhu X,
|
||
Ou J,
|
||
Lin L,
|
||
Chamberlain L,
|
||
Zhu LJ,
|
||
Wajapeyee N,
|
||
Green MR</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2014 Sep 2;111(35):12591-8.
|
||
Epub 2014 Aug 18
|
||
doi: 10.1073/pnas.1413620111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25136103" target="_blank">25136103</a><a href="/pmc/articles/PMC4156765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24958891">Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castro J,
|
||
Garcia RI,
|
||
Kwok S,
|
||
Banerjee A,
|
||
Petravicz J,
|
||
Woodson J,
|
||
Mellios N,
|
||
Tropea D,
|
||
Sur M</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2014 Jul 8;111(27):9941-6.
|
||
Epub 2014 Jun 23
|
||
doi: 10.1073/pnas.1311685111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24958891" target="_blank">24958891</a><a href="/pmc/articles/PMC4103342" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24623853">Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khwaja OS,
|
||
Ho E,
|
||
Barnes KV,
|
||
O'Leary HM,
|
||
Pereira LM,
|
||
Finkelstein Y,
|
||
Nelson CA 3rd,
|
||
Vogel-Farley V,
|
||
DeGregorio G,
|
||
Holm IA,
|
||
Khatwa U,
|
||
Kapur K,
|
||
Alexander ME,
|
||
Finnegan DM,
|
||
Cantwell NG,
|
||
Walco AC,
|
||
Rappaport L,
|
||
Gregas M,
|
||
Fichorova RN,
|
||
Shannon MW,
|
||
Sur M,
|
||
Kaufmann WE</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2014 Mar 25;111(12):4596-601.
|
||
Epub 2014 Mar 12
|
||
doi: 10.1073/pnas.1311141111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24623853" target="_blank">24623853</a><a href="/pmc/articles/PMC3970488" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2C%20X-linked%20111%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33176815">Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin L,
|
||
Zhang Y,
|
||
Pan H,
|
||
Wang J,
|
||
Qi Y,
|
||
Ma Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Nov 11;15(1):317.
|
||
doi: 10.1186/s13023-020-01599-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33176815" target="_blank">33176815</a><a href="/pmc/articles/PMC7656751" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10493832">Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sossey-Alaoui K,
|
||
Lyon JA,
|
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Jones L,
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Abidi FE,
|
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Hartung AJ,
|
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Hane B,
|
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Schwartz CE,
|
||
Stevenson RE,
|
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Srivastava AK</span><br />
|
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<span class="medgenPMjournal">Genomics</span>
|
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1999 Sep 15;60(3):330-40.
|
||
doi: 10.1006/geno.1999.5924.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10493832" target="_blank">10493832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5283930">Expression of two X-linked genes in human hair follicles of double heterozygotes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldstein JL,
|
||
Marks JF,
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Gartler SM</span><br />
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<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
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|
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<span class="bold">PMID: </span><a href="/pubmed/5283930" target="_blank">5283930</a><a href="/pmc/articles/PMC389209" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2C%20X-linked%20111%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38325380">Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shepherdson JL,
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Hutchison K,
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||
Don DW,
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McGillivray G,
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||
Choi TI,
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Allan CA,
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Amor DJ,
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Banka S,
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Basel DG,
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Buch LD,
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||
Carere DA,
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||
Carroll R,
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||
Clayton-Smith J,
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||
Crawford A,
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||
Dunø M,
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||
Faivre L,
|
||
Gilfillan CP,
|
||
Gold NB,
|
||
Gripp KW,
|
||
Hobson E,
|
||
Holtz AM,
|
||
Innes AM,
|
||
Isidor B,
|
||
Jackson A,
|
||
Katsonis P,
|
||
Amel Riazat Kesh L;
|
||
Genomics England Research Consortium,
|
||
Küry S,
|
||
Lecoquierre F,
|
||
Lockhart P,
|
||
Maraval J,
|
||
Matsumoto N,
|
||
McCarrier J,
|
||
McCarthy J,
|
||
Miyake N,
|
||
Moey LH,
|
||
Németh AH,
|
||
Østergaard E,
|
||
Patel R,
|
||
Pope K,
|
||
Posey JE,
|
||
Schnur RE,
|
||
Shaw M,
|
||
Stolerman E,
|
||
Taylor JP,
|
||
Wadman E,
|
||
Wakeling E,
|
||
White SM,
|
||
Wong LC,
|
||
Lupski JR,
|
||
Lichtarge O,
|
||
Corbett MA,
|
||
Gecz J,
|
||
Nicolet CM,
|
||
Farnham PJ,
|
||
Kim CH,
|
||
Shinawi M</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2024 Mar 7;111(3):487-508.
|
||
Epub 2024 Feb 6
|
||
doi: 10.1016/j.ajhg.2024.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38325380" target="_blank">38325380</a><a href="/pmc/articles/PMC10940019" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24268529">Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Theda C,
|
||
Gibbons K,
|
||
Defor TE,
|
||
Donohue PK,
|
||
Golden WC,
|
||
Kline AD,
|
||
Gulamali-Majid F,
|
||
Panny SR,
|
||
Hubbard WC,
|
||
Jones RO,
|
||
Liu AK,
|
||
Moser AB,
|
||
Raymond GV</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2014 Jan;111(1):55-7.
|
||
Epub 2013 Nov 9
|
||
doi: 10.1016/j.ymgme.2013.10.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24268529" target="_blank">24268529</a><a href="/pmc/articles/PMC3935823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24120688">Myelin peroxisomes - essential organelles for the maintenance of white matter in the nervous system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kassmann CM</span><br />
|
||
<span class="medgenPMjournal">Biochimie</span>
|
||
2014 Mar;98:111-8.
|
||
Epub 2013 Oct 9
|
||
doi: 10.1016/j.biochi.2013.09.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24120688" target="_blank">24120688</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17618155">HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang SY,
|
||
He XY,
|
||
Miller D</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2007 Sep-Oct;92(1-2):36-42.
|
||
Epub 2007 Jul 6
|
||
doi: 10.1016/j.ymgme.2007.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17618155" target="_blank">17618155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1094758">X-linked hydrocephalus. Further observations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viseskul C,
|
||
Gilbert EF,
|
||
Opitz JM</span><br />
|
||
<span class="medgenPMjournal">Z Kinderheilkd</span>
|
||
1975;119(2):111-21.
|
||
doi: 10.1007/BF00443565.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1094758" target="_blank">1094758</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2C%20X-linked%20111%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 (11)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
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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=301107" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Intellectual%20developmental%20disorder,%20X-linked%20111" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20developmental%20disorder%2C%20x-linked%20111)%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>
|
||
<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=300561" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=84631[geneid]" target="_blank">View SLITRK2 variations in ClinVar</a></li><li><a href="/nuccore/288872209" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=301107" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
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|
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|
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/intellectual_developmental_disorder_x_linked_111" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Intellectual%20developmental%20disorder,%20X-linked%20111" target="_blank">MedlinePlus</a></li></ul></div>
|
||
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|
||
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|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<div class="portlet_title">
|
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<h3>Reviews</h3>
|
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|
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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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<ul>
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||
<li>
|
||
<a href="/pubmed/clinical?term=Intellectual%20developmental%20disorder,%20X-linked%20111" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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||
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|
||
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|
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<a href="/pubmed?term=Intellectual%20developmental%20disorder,%20X-linked%20111%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
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|
||
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|
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|
||
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|
||
|
||
<!-- MedGen supplemental column ends here -->
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||
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|
||
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|
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<h3>Related information</h3>
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||
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|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1840204" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1840204" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1840204" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1840204" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1840204" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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</li>
|
||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1840204" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
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||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1840204" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
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|
||
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|
||
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|
||
|
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|
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<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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<h3>Recent activity</h3>
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|
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<div class="action">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
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|
||
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|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
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