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<meta name="keywords" content="C4225343, autosomal dominant intellectual disability 38, autosomal dominant mental retardation 38, autosomal dominant non-syndromic intellectual disability 38, autosomal dominant non-syndromic intellectual disability caused by mutation in eef1a2, eef1a2, eef1a2 autosomal dominant non-syndromic intellectual disability, intellectual developmental disorder, autosomal dominant 38, intellectual disability, autosomal dominant 38, intellectual disability, autosomal dominant type 38, mental or behavioral dysfunction, mental retardation, autosomal dominant 38, mental retardation, autosomal dominant type 38, mrd38, prelds, psychomotor retardation, epilepsy, and language disability syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=895359
|
||
ConceptID=C4225343
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, autosomal dominant 38<span class="h1sub">(MRD38)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895359</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:">C4225343</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38; MRD38; PSYCHOMOTOR RETARDATION, EPILEPSY, AND LANGUAGE DISABILITY SYNDROME</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="EEF1A2 - ID: 1917 - NCBI Gene" href="/gene/1917" class="medgenPMinfo">EEF1A2</a> (20q13.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014617" target="_blank">MONDO:0014617</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616393" target="_blank">616393</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">Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_3130"><div><strong>Clubfoot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3130</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.">C0009081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3130">Feature record</a> | <a href="/medgen?term=%22Clubfoot%22%5BClinical%20Features%5D%20OR%203130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%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_676"><div><strong>Bruxism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>676</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.">C0006325</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/676">Feature record</a> | <a href="/medgen?term=%22Bruxism%22%5BClinical%20Features%5D%20OR%20676%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%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_52372"><div><strong>Sleep abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52372</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.">C0037317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal pattern in the quality, quantity, or characteristics of sleep.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52372">Feature record</a> | <a href="/medgen?term=%22Sleep%20abnormality%22%5BClinical%20Features%5D%20OR%2052372%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21654"><div><strong>Trichotillomania</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21654</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.">C0040953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Trichotillomania (TTM) is a neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. The activity causes distress to the individual and often interferes with functioning. Affected individuals may develop physical complications and often have overlapping psychologic disorders, such as Tourette syndrome (GTS; 137580) or obsessive-compulsive disorder (OCD; 164230) (review by Novak et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21654">Feature record</a> | <a href="/medgen?term=%22Trichotillomania%22%5BClinical%20Features%5D%20OR%2021654%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88371"><div><strong>Self-injurious behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88371</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0085271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Self-aggression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Self-injurious%20behavior%22%5BClinical%20Features%5D%20OR%2088371%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116012"><div><strong>Cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116012</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.">C0235946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116012">Feature record</a> | <a href="/medgen?term=%22Cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20116012%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_322935"><div><strong>Generalized tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322935</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.">C1836508</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322935">Feature record</a> | <a href="/medgen?term=%22Generalized%20tonic%20seizure%22%5BClinical%20Features%5D%20OR%20322935%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_854616"><div><strong>Infantile spasms</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854616</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.">C3887898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854616">Feature record</a> | <a href="/medgen?term=%22Infantile%20spasms%22%5BClinical%20Features%5D%20OR%20854616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336857"><div><strong>Generalized neonatal hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336857</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.">C1845123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336857">Feature record</a> | <a href="/medgen?term=%22Generalized%20neonatal%20hypotonia%22%5BClinical%20Features%5D%20OR%20336857%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_151862"><div><strong>Epicanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151862</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.">C0678230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/151862">Feature record</a> | <a href="/medgen?term=%22Epicanthus%22%5BClinical%20Features%5D%20OR%20151862%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326574"><div><strong>Tented upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326574</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.">C1839767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326574">Feature record</a> | <a href="/medgen?term=%22Tented%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20326574%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344003"><div><strong>Everted lower lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344003</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.">C1853246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344003">Feature record</a> | <a href="/medgen?term=%22Everted%20lower%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20344003%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356471"><div><strong>Downturned corners of mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356471</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.">C1866195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356471">Feature record</a> | <a href="/medgen?term=%22Downturned%20corners%20of%20mouth%22%5BClinical%20Features%5D%20OR%20356471%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355661"><div><strong>Full cheeks</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355661</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.">C1866231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased prominence or roundness of soft tissues between zygomata and mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355661">Feature record</a> | <a href="/medgen?term=%22Full%20cheeks%22%5BClinical%20Features%5D%20OR%20355661%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853319"><div><strong>Ventouse delivery</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853319</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.">C1456852</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853319">Feature record</a> | <a href="/medgen?term=%22Ventouse%20delivery%22%5BClinical%20Features%5D%20OR%20853319%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_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356471" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downturned corners of mouth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_151862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epicanthus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Everted lower lip vermilion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Full cheeks</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tented upper lip vermilion</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_3130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clubfoot</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853319" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventouse delivery</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deeply set eye</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336857" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized neonatal hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruxism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized tonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile spasms</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Self-injurious behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sleep abnormality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichotillomania</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_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li></ul></li></ul></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/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/38631766">Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wisch JK,
|
||
McKay NS,
|
||
Boerwinkle AH,
|
||
Kennedy J,
|
||
Flores S,
|
||
Handen BL,
|
||
Christian BT,
|
||
Head E,
|
||
Mapstone M,
|
||
Rafii MS,
|
||
O'Bryant SE,
|
||
Price JC,
|
||
Laymon CM,
|
||
Krinsky-McHale SJ,
|
||
Lai F,
|
||
Rosas HD,
|
||
Hartley SL,
|
||
Zaman S,
|
||
Lott IT,
|
||
Tudorascu D,
|
||
Zammit M,
|
||
Brickman AM,
|
||
Lee JH,
|
||
Bird TD,
|
||
Cohen A,
|
||
Chrem P,
|
||
Daniels A,
|
||
Chhatwal JP,
|
||
Cruchaga C,
|
||
Ibanez L,
|
||
Jucker M,
|
||
Karch CM,
|
||
Day GS,
|
||
Lee JH,
|
||
Levin J,
|
||
Llibre-Guerra J,
|
||
Li Y,
|
||
Lopera F,
|
||
Roh JH,
|
||
Ringman JM,
|
||
Supnet-Bell C,
|
||
van Dyck CH,
|
||
Xiong C,
|
||
Wang G,
|
||
Morris JC,
|
||
McDade E,
|
||
Bateman RJ,
|
||
Benzinger TLS,
|
||
Gordon BA,
|
||
Ances BM;
|
||
Alzheimer's Biomarker Consortium-Down syndrome;
|
||
Dominantly Inherited Alzheimer Network</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2024 May;23(5):500-510.
|
||
doi: 10.1016/S1474-4422(24)00084-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38631766" target="_blank">38631766</a><a href="/pmc/articles/PMC11209765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32985117">Rubinstein-Taybi syndrome in diverse populations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tekendo-Ngongang C,
|
||
Owosela B,
|
||
Fleischer N,
|
||
Addissie YA,
|
||
Malonga B,
|
||
Badoe E,
|
||
Gupta N,
|
||
Moresco A,
|
||
Huckstadt V,
|
||
Ashaat EA,
|
||
Hussen DF,
|
||
Luk HM,
|
||
Lo IFM,
|
||
Hon-Yin Chung B,
|
||
Fung JLF,
|
||
Moretti-Ferreira D,
|
||
Batista LC,
|
||
Lotz-Esquivel S,
|
||
Saborio-Rocafort M,
|
||
Badilla-Porras R,
|
||
Penon Portmann M,
|
||
Jones KL,
|
||
Abdul-Rahman OA,
|
||
Uwineza A,
|
||
Prijoles EJ,
|
||
Ifeorah IK,
|
||
Llamos Paneque A,
|
||
Sirisena ND,
|
||
Dowsett L,
|
||
Lee S,
|
||
Cappuccio G,
|
||
Kitchin CS,
|
||
Diaz-Kuan A,
|
||
Thong MK,
|
||
Obregon MG,
|
||
Mutesa L,
|
||
Dissanayake VHW,
|
||
El Ruby MO,
|
||
Brunetti-Pierri N,
|
||
Ekure EN,
|
||
Stevenson RE,
|
||
Muenke M,
|
||
Kruszka P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Dec;182(12):2939-2950.
|
||
Epub 2020 Sep 27
|
||
doi: 10.1002/ajmg.a.61888.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32985117" target="_blank">32985117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30581057">Diagnostic Yield of Intellectual Disability Gene Panels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pekeles H,
|
||
Accogli A,
|
||
Boudrahem-Addour N,
|
||
Russell L,
|
||
Parente F,
|
||
Srour M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2019 Mar;92:32-36.
|
||
Epub 2018 Nov 22
|
||
doi: 10.1016/j.pediatrneurol.2018.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30581057" target="_blank">30581057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28463681">Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carmona-Iragui M,
|
||
Balasa M,
|
||
Benejam B,
|
||
Alcolea D,
|
||
Fernández S,
|
||
Videla L,
|
||
Sala I,
|
||
Sánchez-Saudinós MB,
|
||
Morenas-Rodriguez E,
|
||
Ribosa-Nogué R,
|
||
Illán-Gala I,
|
||
Gonzalez-Ortiz S,
|
||
Clarimón J,
|
||
Schmitt F,
|
||
Powell DK,
|
||
Bosch B,
|
||
Lladó A,
|
||
Rafii MS,
|
||
Head E,
|
||
Molinuevo JL,
|
||
Blesa R,
|
||
Videla S,
|
||
Lleó A,
|
||
Sánchez-Valle R,
|
||
Fortea J</span><br />
|
||
<span class="medgenPMjournal">Alzheimers Dement</span>
|
||
2017 Nov;13(11):1251-1260.
|
||
Epub 2017 Apr 29
|
||
doi: 10.1016/j.jalz.2017.03.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28463681" target="_blank">28463681</a><a href="/pmc/articles/PMC5660938" 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%2038%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 (11)</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/34321323">O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velmans C,
|
||
O'Donnell-Luria AH,
|
||
Argilli E,
|
||
Tran Mau-Them F,
|
||
Vitobello A,
|
||
Chan MC,
|
||
Fung JL,
|
||
Rech M,
|
||
Abicht A,
|
||
Aubert Mucca M,
|
||
Carmichael J,
|
||
Chassaing N,
|
||
Clark R,
|
||
Coubes C,
|
||
Denommé-Pichon AS,
|
||
de Dios JK,
|
||
England E,
|
||
Funalot B,
|
||
Gerard M,
|
||
Joseph M,
|
||
Kennedy C,
|
||
Kumps C,
|
||
Willems M,
|
||
van de Laar IMBH,
|
||
Aarts-Tesselaar C,
|
||
van Slegtenhorst M,
|
||
Lehalle D,
|
||
Leppig K,
|
||
Lessmeier L,
|
||
Pais LS,
|
||
Paterson H,
|
||
Ramanathan S,
|
||
Rodan LH,
|
||
Superti-Furga A,
|
||
Chung BHY,
|
||
Sherr E,
|
||
Netzer C,
|
||
Schaaf CP,
|
||
Erger F</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Jul;59(7):697-705.
|
||
Epub 2021 Jul 28
|
||
doi: 10.1136/jmedgenet-2020-107470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34321323" target="_blank">34321323</a><a href="/pmc/articles/PMC10256139" 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/32985117">Rubinstein-Taybi syndrome in diverse populations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tekendo-Ngongang C,
|
||
Owosela B,
|
||
Fleischer N,
|
||
Addissie YA,
|
||
Malonga B,
|
||
Badoe E,
|
||
Gupta N,
|
||
Moresco A,
|
||
Huckstadt V,
|
||
Ashaat EA,
|
||
Hussen DF,
|
||
Luk HM,
|
||
Lo IFM,
|
||
Hon-Yin Chung B,
|
||
Fung JLF,
|
||
Moretti-Ferreira D,
|
||
Batista LC,
|
||
Lotz-Esquivel S,
|
||
Saborio-Rocafort M,
|
||
Badilla-Porras R,
|
||
Penon Portmann M,
|
||
Jones KL,
|
||
Abdul-Rahman OA,
|
||
Uwineza A,
|
||
Prijoles EJ,
|
||
Ifeorah IK,
|
||
Llamos Paneque A,
|
||
Sirisena ND,
|
||
Dowsett L,
|
||
Lee S,
|
||
Cappuccio G,
|
||
Kitchin CS,
|
||
Diaz-Kuan A,
|
||
Thong MK,
|
||
Obregon MG,
|
||
Mutesa L,
|
||
Dissanayake VHW,
|
||
El Ruby MO,
|
||
Brunetti-Pierri N,
|
||
Ekure EN,
|
||
Stevenson RE,
|
||
Muenke M,
|
||
Kruszka P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Dec;182(12):2939-2950.
|
||
Epub 2020 Sep 27
|
||
doi: 10.1002/ajmg.a.61888.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32985117" target="_blank">32985117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28229513">Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carlston CM,
|
||
O'Donnell-Luria AH,
|
||
Underhill HR,
|
||
Cummings BB,
|
||
Weisburd B,
|
||
Minikel EV,
|
||
Birnbaum DP;
|
||
Exome Aggregation Consortium,
|
||
Tvrdik T,
|
||
MacArthur DG,
|
||
Mao R</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2017 May;38(5):517-523.
|
||
Epub 2017 Mar 21
|
||
doi: 10.1002/humu.23203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28229513" target="_blank">28229513</a><a href="/pmc/articles/PMC5487276" 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%2038%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 (17)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35430095">Kidney Transplantation in a Patient With Tuberous Sclerosis Complex: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kluz A,
|
||
Gozdowska J,
|
||
Domagała P,
|
||
Durlik M</span><br />
|
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<span class="medgenPMjournal">Transplant Proc</span>
|
||
2022 May;54(4):1148-1151.
|
||
Epub 2022 Apr 14
|
||
doi: 10.1016/j.transproceed.2022.02.055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35430095" target="_blank">35430095</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2038%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39941075">ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hossain WA,
|
||
St Peter C,
|
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Lovell S,
|
||
Rafi SK,
|
||
Butler MG</span><br />
|
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<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2025 Feb 3;26(3)
|
||
doi: 10.3390/ijms26031307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39941075" target="_blank">39941075</a><a href="/pmc/articles/PMC11818587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32985117">Rubinstein-Taybi syndrome in diverse populations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tekendo-Ngongang C,
|
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Owosela B,
|
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Fleischer N,
|
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Addissie YA,
|
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Malonga B,
|
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Badoe E,
|
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Gupta N,
|
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Moresco A,
|
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Huckstadt V,
|
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Ashaat EA,
|
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Hussen DF,
|
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Luk HM,
|
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Lo IFM,
|
||
Hon-Yin Chung B,
|
||
Fung JLF,
|
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Moretti-Ferreira D,
|
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Batista LC,
|
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Lotz-Esquivel S,
|
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Saborio-Rocafort M,
|
||
Badilla-Porras R,
|
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Penon Portmann M,
|
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Jones KL,
|
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Abdul-Rahman OA,
|
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Uwineza A,
|
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Prijoles EJ,
|
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Ifeorah IK,
|
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Llamos Paneque A,
|
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Sirisena ND,
|
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Dowsett L,
|
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Lee S,
|
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Cappuccio G,
|
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Kitchin CS,
|
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Diaz-Kuan A,
|
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Thong MK,
|
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Obregon MG,
|
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Mutesa L,
|
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Dissanayake VHW,
|
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El Ruby MO,
|
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Brunetti-Pierri N,
|
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Ekure EN,
|
||
Stevenson RE,
|
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Muenke M,
|
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Kruszka P</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Dec;182(12):2939-2950.
|
||
Epub 2020 Sep 27
|
||
doi: 10.1002/ajmg.a.61888.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32985117" target="_blank">32985117</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2038%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39941075">ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hossain WA,
|
||
St Peter C,
|
||
Lovell S,
|
||
Rafi SK,
|
||
Butler MG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2025 Feb 3;26(3)
|
||
doi: 10.3390/ijms26031307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39941075" target="_blank">39941075</a><a href="/pmc/articles/PMC11818587" 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,
|
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Sultana S,
|
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Bandyopadhyay D,
|
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Rapalino O,
|
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Peacock ZS,
|
||
Chou EL,
|
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Heidary G,
|
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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/38631766">Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wisch JK,
|
||
McKay NS,
|
||
Boerwinkle AH,
|
||
Kennedy J,
|
||
Flores S,
|
||
Handen BL,
|
||
Christian BT,
|
||
Head E,
|
||
Mapstone M,
|
||
Rafii MS,
|
||
O'Bryant SE,
|
||
Price JC,
|
||
Laymon CM,
|
||
Krinsky-McHale SJ,
|
||
Lai F,
|
||
Rosas HD,
|
||
Hartley SL,
|
||
Zaman S,
|
||
Lott IT,
|
||
Tudorascu D,
|
||
Zammit M,
|
||
Brickman AM,
|
||
Lee JH,
|
||
Bird TD,
|
||
Cohen A,
|
||
Chrem P,
|
||
Daniels A,
|
||
Chhatwal JP,
|
||
Cruchaga C,
|
||
Ibanez L,
|
||
Jucker M,
|
||
Karch CM,
|
||
Day GS,
|
||
Lee JH,
|
||
Levin J,
|
||
Llibre-Guerra J,
|
||
Li Y,
|
||
Lopera F,
|
||
Roh JH,
|
||
Ringman JM,
|
||
Supnet-Bell C,
|
||
van Dyck CH,
|
||
Xiong C,
|
||
Wang G,
|
||
Morris JC,
|
||
McDade E,
|
||
Bateman RJ,
|
||
Benzinger TLS,
|
||
Gordon BA,
|
||
Ances BM;
|
||
Alzheimer's Biomarker Consortium-Down syndrome;
|
||
Dominantly Inherited Alzheimer Network</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2024 May;23(5):500-510.
|
||
doi: 10.1016/S1474-4422(24)00084-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38631766" target="_blank">38631766</a><a href="/pmc/articles/PMC11209765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34321323">O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velmans C,
|
||
O'Donnell-Luria AH,
|
||
Argilli E,
|
||
Tran Mau-Them F,
|
||
Vitobello A,
|
||
Chan MC,
|
||
Fung JL,
|
||
Rech M,
|
||
Abicht A,
|
||
Aubert Mucca M,
|
||
Carmichael J,
|
||
Chassaing N,
|
||
Clark R,
|
||
Coubes C,
|
||
Denommé-Pichon AS,
|
||
de Dios JK,
|
||
England E,
|
||
Funalot B,
|
||
Gerard M,
|
||
Joseph M,
|
||
Kennedy C,
|
||
Kumps C,
|
||
Willems M,
|
||
van de Laar IMBH,
|
||
Aarts-Tesselaar C,
|
||
van Slegtenhorst M,
|
||
Lehalle D,
|
||
Leppig K,
|
||
Lessmeier L,
|
||
Pais LS,
|
||
Paterson H,
|
||
Ramanathan S,
|
||
Rodan LH,
|
||
Superti-Furga A,
|
||
Chung BHY,
|
||
Sherr E,
|
||
Netzer C,
|
||
Schaaf CP,
|
||
Erger F</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Jul;59(7):697-705.
|
||
Epub 2021 Jul 28
|
||
doi: 10.1136/jmedgenet-2020-107470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34321323" target="_blank">34321323</a><a href="/pmc/articles/PMC10256139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28229513">Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carlston CM,
|
||
O'Donnell-Luria AH,
|
||
Underhill HR,
|
||
Cummings BB,
|
||
Weisburd B,
|
||
Minikel EV,
|
||
Birnbaum DP;
|
||
Exome Aggregation Consortium,
|
||
Tvrdik T,
|
||
MacArthur DG,
|
||
Mao R</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2017 May;38(5):517-523.
|
||
Epub 2017 Mar 21
|
||
doi: 10.1002/humu.23203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28229513" target="_blank">28229513</a><a href="/pmc/articles/PMC5487276" 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%2038%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 (8)</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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4225343%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225343%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225343%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225343%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<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=616393" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Intellectual%20disability,%20autosomal%20dominant%2038" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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=602959" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1917[geneid]" target="_blank">View EEF1A2 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=616393" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/intellectual_developmental_disorder_autosomal_dominant_38" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Intellectual%20disability,%20autosomal%20dominant%2038" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16469/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<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>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Intellectual%20disability,%20autosomal%20dominant%2038" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Intellectual%20disability,%20autosomal%20dominant%2038%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=895359" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=895359" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4225343[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4225343[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=895359" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=895359" ref="log$=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=895359" ref="log$=recordlinks">PMC Articles</a>
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