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<meta name="keywords" content="C3280285, autosomal dominant intellectual disability 11, autosomal dominant mental retardation 11, autosomal dominant non-syndromic intellectual disability 11, autosomal dominant non-syndromic intellectual disability caused by mutation in epb41l1, chromosome 20q11-q12 deletion syndrome, disease or syndrome, epb41l1, epb41l1 autosomal dominant non-syndromic intellectual disability, intellectual developmental disorder, autosomal dominant 11, intellectual disability, autosomal dominant 11, intellectual disability, autosomal dominant type 11, mental retardation, autosomal dominant 11, mental retardation, autosomal dominant type 11, mrd11, 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="Chromosome 20q11-q12 deletion syndrome is characterized by global developmental delay, poor overall growth, sometimes with severe feeding difficulties, facial dysmorphism, and distal skeletal anomalies. Some patients may have hearing impairment, retinopathy, or cardiac defects. It is a multisystemic disorder with variable features (summary by Loddo et al., 2018)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=481915
|
||
ConceptID=C3280285
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, autosomal dominant 11<span class="h1sub">(MRD11)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481915</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:">C3280285</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>CHROMOSOME 20q11-q12 DELETION SYNDROME; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 11; MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11</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="EPB41L1 - ID: 2036 - NCBI Gene" href="/gene/2036" class="medgenPMinfo">EPB41L1</a> (20q11.23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013658" target="_blank">MONDO:0013658</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614257" target="_blank">614257</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">Chromosome 20q11-q12 deletion syndrome is characterized by global developmental delay, poor overall growth, sometimes with severe feeding difficulties, facial dysmorphism, and distal skeletal anomalies. Some patients may have hearing impairment, retinopathy, or cardiac defects. It is a multisystemic disorder with variable features (summary by Loddo et al., 2018). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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||
|
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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_67454"><div><strong>Brachydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67454</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.">C0221357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67454">Feature record</a> | <a href="/medgen?term=%22Brachydactyly%22%5BClinical%20Features%5D%20OR%2067454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120550"><div><strong>Finger clinodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120550</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.">C0265610</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120550">Feature record</a> | <a href="/medgen?term=%22Finger%20clinodactyly%22%5BClinical%20Features%5D%20OR%20120550%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98140"><div><strong>Thumbs, congenital Clasped</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98140</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.">C0431886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98140">Feature record</a> | <a href="/medgen?term=%22Thumbs%2C%20congenital%20Clasped%22%5BClinical%20Features%5D%20OR%2098140%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871263"><div><strong>Tarsal osteovalgus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871263</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.">C4025748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871263">Feature record</a> | <a href="/medgen?term=%22Tarsal%20osteovalgus%22%5BClinical%20Features%5D%20OR%20871263%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_436211"><div><strong>Feeding difficulties in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436211</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.">C2674608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436211">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%20in%20infancy%22%5BClinical%20Features%5D%20OR%20436211%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_235586"><div><strong>Hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235586</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.">C1384666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased magnitude of the sensory perception of sound.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235586">Feature record</a> | <a href="/medgen?term=%22Hearing%20impairment%22%5BClinical%20Features%5D%20OR%20235586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14048"><div><strong>Atypical behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14048</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.">C0004941</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14048">Feature record</a> | <a href="/medgen?term=%22Atypical%20behavior%22%5BClinical%20Features%5D%20OR%2014048%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_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_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_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195780"><div><strong>Camptodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195780</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.">C0685409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195780">Feature record</a> | <a href="/medgen?term=%22Camptodactyly%22%5BClinical%20Features%5D%20OR%20195780%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65991"><div><strong>High forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65991</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.">C0239676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased height of the forehead.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65991">Feature record</a> | <a href="/medgen?term=%22High%20forehead%22%5BClinical%20Features%5D%20OR%2065991%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339938"><div><strong>Midface retrusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339938</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.">C1853242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339938">Feature record</a> | <a href="/medgen?term=%22Midface%20retrusion%22%5BClinical%20Features%5D%20OR%20339938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_350006"><div><strong>Short philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350006</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.">C1861324</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350006">Feature record</a> | <a href="/medgen?term=%22Short%20philtrum%22%5BClinical%20Features%5D%20OR%20350006%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="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_65991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface retrusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_350006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short philtrum</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Finger clinodactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871263" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tarsal osteovalgus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98140" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thumbs, congenital Clasped</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_436211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties in infancy</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li></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_14048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atypical behavior</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_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></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_235586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hearing impairment</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_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</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/38256219">Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vetri L,
|
||
Calì F,
|
||
Saccone S,
|
||
Vinci M,
|
||
Chiavetta NV,
|
||
Carotenuto M,
|
||
Roccella M,
|
||
Costanza C,
|
||
Elia M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Jan 17;25(2)
|
||
doi: 10.3390/ijms25021146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38256219" target="_blank">38256219</a><a href="/pmc/articles/PMC10816140" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34740132">Epilepsy Management in Tuberous Sclerosis Complex: Existing and Evolving Therapies and Future Considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nabavi Nouri M,
|
||
Zak M,
|
||
Jain P,
|
||
Whitney R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2022 Jan;126:11-19.
|
||
Epub 2021 Sep 30
|
||
doi: 10.1016/j.pediatrneurol.2021.09.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34740132" target="_blank">34740132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33908178">Sleep-disordered breathing and its management in children with rare skeletal dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen DB,
|
||
Khirani S,
|
||
Griffon L,
|
||
Baujat G,
|
||
Michot C,
|
||
Marzin P,
|
||
Rondeau S,
|
||
Luscan R,
|
||
Couloigner V,
|
||
Pejin Z,
|
||
Zerah M,
|
||
Cormier-Daire V,
|
||
Fauroux B</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Jul;185(7):2108-2118.
|
||
Epub 2021 Apr 28
|
||
doi: 10.1002/ajmg.a.62236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33908178" target="_blank">33908178</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20autosomal%20dominant%2011)%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/39336782">Transient Myeloproliferative Disorder (TMD), Acute Lymphoblastic Leukemia (ALL), and Juvenile Myelomonocytic Leukemia (JMML) in a Child with Noonan Syndrome: Sequential Occurrence, Single Center Experience, and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arrabito M,
|
||
Li Volsi N,
|
||
La Rosa M,
|
||
Samperi P,
|
||
Pulvirenti G,
|
||
Cannata E,
|
||
Russo G,
|
||
Di Cataldo A,
|
||
Lo Nigro L</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Sep 10;15(9)
|
||
doi: 10.3390/genes15091191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39336782" target="_blank">39336782</a><a href="/pmc/articles/PMC11431238" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38779990">Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin AE,
|
||
Scimone ER,
|
||
Thom RP,
|
||
Balaguru D,
|
||
Kinane TB,
|
||
Moschovis PP,
|
||
Cohen MS,
|
||
Tan W,
|
||
Hague CD,
|
||
Dannheim K,
|
||
Levitsky LL,
|
||
Lilly E,
|
||
DiGiacomo DV,
|
||
Masse KM,
|
||
Kadzielski SM,
|
||
Zar-Kessler CA,
|
||
Ginns LC,
|
||
Neumeyer AM,
|
||
Colvin MK,
|
||
Elder JS,
|
||
Learn CP,
|
||
Mou H,
|
||
Weagle KM,
|
||
Buch KA,
|
||
Butler WE,
|
||
Alhadid K,
|
||
Musolino PL,
|
||
Sultana S,
|
||
Bandyopadhyay D,
|
||
Rapalino O,
|
||
Peacock ZS,
|
||
Chou EL,
|
||
Heidary G,
|
||
Dorfman AT,
|
||
Morris SA,
|
||
Bergin JD,
|
||
Rayment JH,
|
||
Schimmenti LA,
|
||
Lindsay ME;
|
||
MGH Myhre Syndrome Study Group</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Oct;194(10):e63638.
|
||
Epub 2024 May 23
|
||
doi: 10.1002/ajmg.a.63638.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38779990" target="_blank">38779990</a><a href="/pmc/articles/PMC11586855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37658610">Clinical heterogeneity of polish patients with KAT6B-related disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klaniewska M,
|
||
Bolanowska-Tyszko A,
|
||
Latos-Bielenska A,
|
||
Jezela-Stanek A,
|
||
Szczaluba K,
|
||
Krajewska-Walasek M,
|
||
Ciara E,
|
||
Pelc M,
|
||
Jurkiewicz D,
|
||
Stawinski P,
|
||
Zubkiewicz-Kucharska A,
|
||
Rydzanicz M,
|
||
Ploski R,
|
||
Smigiel R</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2023 Dec;11(12):e2265.
|
||
Epub 2023 Sep 1
|
||
doi: 10.1002/mgg3.2265.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37658610" target="_blank">37658610</a><a href="/pmc/articles/PMC10724496" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35130400">TP63-related disorders: two case reports and a brief review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nanda A,
|
||
AlLafi A,
|
||
Wolf S,
|
||
AlMasry IM,
|
||
Betz R</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2021 Nov 15;27(11)
|
||
doi: 10.5070/D3271156088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35130400" target="_blank">35130400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34687637">Alzheimer's disease associated with Down syndrome: a genetic form of dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortea J,
|
||
Zaman SH,
|
||
Hartley S,
|
||
Rafii MS,
|
||
Head E,
|
||
Carmona-Iragui M</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2021 Nov;20(11):930-942.
|
||
doi: 10.1016/S1474-4422(21)00245-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34687637" target="_blank">34687637</a><a href="/pmc/articles/PMC9387748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2011%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 (44)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38779990">Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin AE,
|
||
Scimone ER,
|
||
Thom RP,
|
||
Balaguru D,
|
||
Kinane TB,
|
||
Moschovis PP,
|
||
Cohen MS,
|
||
Tan W,
|
||
Hague CD,
|
||
Dannheim K,
|
||
Levitsky LL,
|
||
Lilly E,
|
||
DiGiacomo DV,
|
||
Masse KM,
|
||
Kadzielski SM,
|
||
Zar-Kessler CA,
|
||
Ginns LC,
|
||
Neumeyer AM,
|
||
Colvin MK,
|
||
Elder JS,
|
||
Learn CP,
|
||
Mou H,
|
||
Weagle KM,
|
||
Buch KA,
|
||
Butler WE,
|
||
Alhadid K,
|
||
Musolino PL,
|
||
Sultana S,
|
||
Bandyopadhyay D,
|
||
Rapalino O,
|
||
Peacock ZS,
|
||
Chou EL,
|
||
Heidary G,
|
||
Dorfman AT,
|
||
Morris SA,
|
||
Bergin JD,
|
||
Rayment JH,
|
||
Schimmenti LA,
|
||
Lindsay ME;
|
||
MGH Myhre Syndrome Study Group</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Oct;194(10):e63638.
|
||
Epub 2024 May 23
|
||
doi: 10.1002/ajmg.a.63638.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38779990" target="_blank">38779990</a><a href="/pmc/articles/PMC11586855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35130400">TP63-related disorders: two case reports and a brief review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nanda A,
|
||
AlLafi A,
|
||
Wolf S,
|
||
AlMasry IM,
|
||
Betz R</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2021 Nov 15;27(11)
|
||
doi: 10.5070/D3271156088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35130400" target="_blank">35130400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34687637">Alzheimer's disease associated with Down syndrome: a genetic form of dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortea J,
|
||
Zaman SH,
|
||
Hartley S,
|
||
Rafii MS,
|
||
Head E,
|
||
Carmona-Iragui M</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2021 Nov;20(11):930-942.
|
||
doi: 10.1016/S1474-4422(21)00245-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34687637" target="_blank">34687637</a><a href="/pmc/articles/PMC9387748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34374989">Spectrum of neuro-genetic disorders in the United Arab Emirates national population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saleh S,
|
||
Beyyumi E,
|
||
Al Kaabi A,
|
||
Hertecant J,
|
||
Barakat D,
|
||
Al Dhaheri NS,
|
||
Al-Gazali L,
|
||
Al Shamsi A</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Nov;100(5):573-600.
|
||
Epub 2021 Aug 19
|
||
doi: 10.1111/cge.14044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34374989" target="_blank">34374989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16163268">Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riveiro-Alvarez R,
|
||
Trujillo-Tiebas MJ,
|
||
Gimenez-Pardo A,
|
||
Garcia-Hoyos M,
|
||
Cantalapiedra D,
|
||
Lorda-Sanchez I,
|
||
Rodriguez de Alba M,
|
||
Ramos C,
|
||
Ayuso C</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2005 Sep 2;11:705-12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16163268" target="_blank">16163268</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2011%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 (73)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30359879">Comparison of longitudinal Aβ in nondemented elderly and Down syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tudorascu DL,
|
||
Anderson SJ,
|
||
Minhas DS,
|
||
Yu Z,
|
||
Comer D,
|
||
Lao P,
|
||
Hartley S,
|
||
Laymon CM,
|
||
Snitz BE,
|
||
Lopresti BJ,
|
||
Johnson S,
|
||
Price JC,
|
||
Mathis CA,
|
||
Aizenstein HJ,
|
||
Klunk WE,
|
||
Handen BL,
|
||
Christian BT,
|
||
Cohen AD</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Aging</span>
|
||
2019 Jan;73:171-176.
|
||
Epub 2018 Sep 27
|
||
doi: 10.1016/j.neurobiolaging.2018.09.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30359879" target="_blank">30359879</a><a href="/pmc/articles/PMC6251757" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30053089">IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
|
||
Xu DD,
|
||
Sun CJ,
|
||
Wu J,
|
||
Wei HY,
|
||
Liu Y,
|
||
Zhang MY,
|
||
Luo FH</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2018 Nov 1;103(11):3939-3944.
|
||
doi: 10.1210/jc.2017-02782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30053089" target="_blank">30053089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26063342">Court orders on procreation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matevosyan NR</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2016 Jan;293(1):87-99.
|
||
Epub 2015 Jun 11
|
||
doi: 10.1007/s00404-015-3770-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26063342" target="_blank">26063342</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25413698">Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walz K,
|
||
Cohen D,
|
||
Neilsen PM,
|
||
Foster J 2nd,
|
||
Brancati F,
|
||
Demir K,
|
||
Fisher R,
|
||
Moffat M,
|
||
Verbeek NE,
|
||
Bjørgo K,
|
||
Lo Castro A,
|
||
Curatolo P,
|
||
Novelli G,
|
||
Abad C,
|
||
Lei C,
|
||
Zhang L,
|
||
Diaz-Horta O,
|
||
Young JI,
|
||
Callen DF,
|
||
Tekin M</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2015 Feb;134(2):181-90.
|
||
Epub 2014 Nov 21
|
||
doi: 10.1007/s00439-014-1509-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25413698" target="_blank">25413698</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25131622">Clinical whole exome sequencing in child neurology practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srivastava S,
|
||
Cohen JS,
|
||
Vernon H,
|
||
Barañano K,
|
||
McClellan R,
|
||
Jamal L,
|
||
Naidu S,
|
||
Fatemi A</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2014 Oct;76(4):473-83.
|
||
Epub 2014 Aug 30
|
||
doi: 10.1002/ana.24251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25131622" target="_blank">25131622</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2011%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39336782">Transient Myeloproliferative Disorder (TMD), Acute Lymphoblastic Leukemia (ALL), and Juvenile Myelomonocytic Leukemia (JMML) in a Child with Noonan Syndrome: Sequential Occurrence, Single Center Experience, and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arrabito M,
|
||
Li Volsi N,
|
||
La Rosa M,
|
||
Samperi P,
|
||
Pulvirenti G,
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Di Cataldo A,
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Lo Nigro L</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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2024 Sep 10;15(9)
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|
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<span class="bold">PMID: </span><a href="/pubmed/39336782" target="_blank">39336782</a><a href="/pmc/articles/PMC11431238" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/39033379">Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alstrup M,
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Cesca F,
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Krawczun-Rygmaczewska A,
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Bjerager MO,
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Finnila C,
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Kruer MC,
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Bakhtiari S,
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Padilla-Lopez S,
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Manwaring L,
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Keren B,
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Afenjar A,
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Galatolo D,
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Scalise R,
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Santorelli FM,
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Shillington A,
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Vezain M,
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Martinovic J,
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Stevens C,
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Gowda VK,
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Srinivasan VM,
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Thiffault I,
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Pastinen T,
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Baranano K,
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Lee A,
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Granadillo J,
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Glassford MR,
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Keegan CE,
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Matthews N,
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Saugier-Veber P,
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Iglesias T,
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Østergaard E</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2024 Nov;26(11):101219.
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Epub 2024 Jul 18
|
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doi: 10.1016/j.gim.2024.101219.
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<span class="bold">PMID: </span><a href="/pubmed/39033379" target="_blank">39033379</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37883978">An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mah-Som AY,
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Daw J,
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Huynh D,
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Wu M,
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Creekmore BC,
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Burns W,
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Skinner SA,
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Holla ØL,
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Smeland MF,
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Planes M,
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Uguen K,
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Redon S,
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Bierhals T,
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Scholz T,
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Denecke J,
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Mensah MA,
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Sczakiel HL,
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Tichy H,
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Verheyen S,
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Blatterer J,
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Schreiner E,
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Thies J,
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Lam C,
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Spaeth CG,
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Pena L,
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Ramsey K,
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Narayanan V,
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Seaver LH,
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Rodriguez D,
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Afenjar A,
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Burglen L,
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Lee EB,
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Chou TF,
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Weihl CC,
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Shinawi MS</span><br />
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2023 Nov 2;110(11):1959-1975.
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Epub 2023 Oct 25
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<span class="bold">PMID: </span><a href="/pubmed/37883978" target="_blank">37883978</a><a href="/pmc/articles/PMC10645565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37658610">Clinical heterogeneity of polish patients with KAT6B-related disorder.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Klaniewska M,
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Bolanowska-Tyszko A,
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Latos-Bielenska A,
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Jezela-Stanek A,
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Szczaluba K,
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Krajewska-Walasek M,
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Ciara E,
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Pelc M,
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Jurkiewicz D,
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Stawinski P,
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Rydzanicz M,
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Ploski R,
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Smigiel R</span><br />
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<span class="medgenPMjournal">Mol Genet Genomic Med</span>
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2023 Dec;11(12):e2265.
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Epub 2023 Sep 1
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<span class="bold">PMID: </span><a href="/pubmed/37658610" target="_blank">37658610</a><a href="/pmc/articles/PMC10724496" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/32031333">De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chilton I,
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Okur V,
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Vitiello G,
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Selicorni A,
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Mariani M,
|
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Goldenberg A,
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Husson T,
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Campion D,
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Lichtenbelt KD,
|
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van Gassen K,
|
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Steinraths M,
|
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Rice J,
|
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Roeder ER,
|
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Littlejohn RO,
|
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Srour M,
|
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Sebire G,
|
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Accogli A,
|
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Héron D,
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Heide S,
|
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Nava C,
|
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Depienne C,
|
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Larson A,
|
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Niyazov D,
|
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Azage M,
|
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Hoganson G,
|
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Burton J,
|
||
Rush ET,
|
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Jenkins JL,
|
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Saunders CJ,
|
||
Thiffault I,
|
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Alaimo JT,
|
||
Fleischer J,
|
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Groepper D,
|
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Gripp KW,
|
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Chung WK</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2020 May;182(5):962-973.
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Epub 2020 Feb 7
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doi: 10.1002/ajmg.a.61505.
|
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<span class="bold">PMID: </span><a href="/pubmed/32031333" target="_blank">32031333</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2011%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (23)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39033379">Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alstrup M,
|
||
Cesca F,
|
||
Krawczun-Rygmaczewska A,
|
||
López-Menéndez C,
|
||
Pose-Utrilla J,
|
||
Castberg FC,
|
||
Bjerager MO,
|
||
Finnila C,
|
||
Kruer MC,
|
||
Bakhtiari S,
|
||
Padilla-Lopez S,
|
||
Manwaring L,
|
||
Keren B,
|
||
Afenjar A,
|
||
Galatolo D,
|
||
Scalise R,
|
||
Santorelli FM,
|
||
Shillington A,
|
||
Vezain M,
|
||
Martinovic J,
|
||
Stevens C,
|
||
Gowda VK,
|
||
Srinivasan VM,
|
||
Thiffault I,
|
||
Pastinen T,
|
||
Baranano K,
|
||
Lee A,
|
||
Granadillo J,
|
||
Glassford MR,
|
||
Keegan CE,
|
||
Matthews N,
|
||
Saugier-Veber P,
|
||
Iglesias T,
|
||
Østergaard E</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2024 Nov;26(11):101219.
|
||
Epub 2024 Jul 18
|
||
doi: 10.1016/j.gim.2024.101219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39033379" target="_blank">39033379</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38779990">Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Lin AE,
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Scimone ER,
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Thom RP,
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Balaguru D,
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Kinane TB,
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Moschovis PP,
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Cohen MS,
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Tan W,
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Hague CD,
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Dannheim K,
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Levitsky LL,
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Lilly E,
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DiGiacomo DV,
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Masse KM,
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Kadzielski SM,
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Zar-Kessler CA,
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Ginns LC,
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Neumeyer AM,
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Colvin MK,
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Elder JS,
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Learn CP,
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Mou H,
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Weagle KM,
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Buch KA,
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Butler WE,
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Alhadid K,
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Musolino PL,
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Sultana S,
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Bandyopadhyay D,
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Rapalino O,
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Peacock ZS,
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Chou EL,
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Heidary G,
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Dorfman AT,
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Morris SA,
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Bergin JD,
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Rayment JH,
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Schimmenti LA,
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Lindsay ME;
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MGH Myhre Syndrome Study Group</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Oct;194(10):e63638.
|
||
Epub 2024 May 23
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doi: 10.1002/ajmg.a.63638.
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<span class="bold">PMID: </span><a href="/pubmed/38779990" target="_blank">38779990</a><a href="/pmc/articles/PMC11586855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37883978">An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mah-Som AY,
|
||
Daw J,
|
||
Huynh D,
|
||
Wu M,
|
||
Creekmore BC,
|
||
Burns W,
|
||
Skinner SA,
|
||
Holla ØL,
|
||
Smeland MF,
|
||
Planes M,
|
||
Uguen K,
|
||
Redon S,
|
||
Bierhals T,
|
||
Scholz T,
|
||
Denecke J,
|
||
Mensah MA,
|
||
Sczakiel HL,
|
||
Tichy H,
|
||
Verheyen S,
|
||
Blatterer J,
|
||
Schreiner E,
|
||
Thies J,
|
||
Lam C,
|
||
Spaeth CG,
|
||
Pena L,
|
||
Ramsey K,
|
||
Narayanan V,
|
||
Seaver LH,
|
||
Rodriguez D,
|
||
Afenjar A,
|
||
Burglen L,
|
||
Lee EB,
|
||
Chou TF,
|
||
Weihl CC,
|
||
Shinawi MS</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2023 Nov 2;110(11):1959-1975.
|
||
Epub 2023 Oct 25
|
||
doi: 10.1016/j.ajhg.2023.10.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37883978" target="_blank">37883978</a><a href="/pmc/articles/PMC10645565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32031333">De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chilton I,
|
||
Okur V,
|
||
Vitiello G,
|
||
Selicorni A,
|
||
Mariani M,
|
||
Goldenberg A,
|
||
Husson T,
|
||
Campion D,
|
||
Lichtenbelt KD,
|
||
van Gassen K,
|
||
Steinraths M,
|
||
Rice J,
|
||
Roeder ER,
|
||
Littlejohn RO,
|
||
Srour M,
|
||
Sebire G,
|
||
Accogli A,
|
||
Héron D,
|
||
Heide S,
|
||
Nava C,
|
||
Depienne C,
|
||
Larson A,
|
||
Niyazov D,
|
||
Azage M,
|
||
Hoganson G,
|
||
Burton J,
|
||
Rush ET,
|
||
Jenkins JL,
|
||
Saunders CJ,
|
||
Thiffault I,
|
||
Alaimo JT,
|
||
Fleischer J,
|
||
Groepper D,
|
||
Gripp KW,
|
||
Chung WK</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 May;182(5):962-973.
|
||
Epub 2020 Feb 7
|
||
doi: 10.1002/ajmg.a.61505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32031333" target="_blank">32031333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10353782">X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strømme P,
|
||
Sundet K,
|
||
Mørk C,
|
||
Cassiman JJ,
|
||
Fryns JP,
|
||
Claes S</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1999 May;36(5):374-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10353782" target="_blank">10353782</a><a href="/pmc/articles/PMC1734364" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2011%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 (38)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39001623">Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Novelli M,
|
||
Tolve M,
|
||
Quiroz V,
|
||
Carducci C,
|
||
Bove R,
|
||
Ricciardi G,
|
||
Yang K,
|
||
Manti F,
|
||
Pisani F,
|
||
Ebrahimi-Fakhari D,
|
||
Galosi S,
|
||
Leuzzi V</span><br />
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||
<span class="medgenPMjournal">Mov Disord Clin Pract</span>
|
||
2024 Sep;11(9):1072-1084.
|
||
Epub 2024 Jul 12
|
||
doi: 10.1002/mdc3.14157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39001623" target="_blank">39001623</a><a href="/pmc/articles/PMC11452796" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2011%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<!-- 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 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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3280285%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280285%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280285%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3280285%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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</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=614257" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Intellectual%20disability,%20autosomal%20dominant%2011" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20autosomal%20dominant%2011)%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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cca945b15b832ebc51a438">Intellectual disability, autosomal dominant 11</a>
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