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<meta name="keywords" content="C2675473, autosomal dominant intellectual disability 5, autosomal dominant mental retardation 5, autosomal dominant non-syndromic intellectual disability 5, autosomal dominant non-syndromic intellectual disability caused by mutation in syngap1, intellectual developmental disorder, autosomal dominant 5, intellectual disability, autosomal dominant 5, intellectual disability, autosomal dominant type 5, mental or behavioral dysfunction, mental retardation, autosomal dominant 5, mental retardation, autosomal dominant type 5, mrd5, syngap1, syngap1 autosomal dominant non-syndromic intellectual disability, syngap1 gene mutation linked to intellectual disability, schizophrenia and autism, syngap1 syndrome, syngap1-related developmental and epileptic encephalopathy, syngap1-related non-syndromic intellectual disability, syngap1-related nsid, 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="SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or intellectual disability (ID) (100% of affected individuals), generalized epilepsy (~84%), and autism spectrum disorder (ASD) and other behavioral abnormalities (=50%). To date more than 50 individuals with SYNGAP1-ID have been reported. In the majority DD/ID was moderate to severe; in some it was mild. The epilepsy is generalized; a subset of individuals with epilepsy have myoclonic astatic epilepsy (Doose syndrome) or epilepsy with myoclonic absences. Behavioral abnormalities can include stereotypic behaviors (e.g., hand flapping, obsessions with certain objects) as well as poor social development. Feeding difficulties can be significant in some." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=382611
|
||
ConceptID=C2675473
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, autosomal dominant 5<span class="h1sub">(MRD5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382611</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.">C2675473</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 5; Mental retardation, autosomal dominant 5; MRD5; SYNGAP1-related developmental and epileptic encephalopathy</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="SYNGAP1 - ID: 8831 - NCBI Gene" href="/gene/8831" class="medgenPMinfo">SYNGAP1</a> (6p21.32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012960" target="_blank">MONDO:0012960</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612621" target="_blank">612621</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_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK537721" target="_blank">SYNGAP1-Related Intellectual Disability</a></div><div>SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or intellectual disability (ID) (100% of affected individuals), generalized epilepsy (~84%), and autism spectrum disorder (ASD) and other behavioral abnormalities (≤50%). To date more than 50 individuals with SYNGAP1-ID have been reported. In the majority DD/ID was moderate to severe; in some it was mild. The epilepsy is generalized; a subset of individuals with epilepsy have myoclonic astatic epilepsy (Doose syndrome) or epilepsy with myoclonic absences. Behavioral abnormalities can include stereotypic behaviors (e.g., hand flapping, obsessions with certain objects) as well as poor social development. Feeding difficulties can be significant in some. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK537721#syngap1-id.Summary" target="NBK537721">Summary</a> | <a class="medgenPMinfo" href="/books/NBK537721#syngap1-id.Diagnosis" target="NBK537721">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK537721#syngap1-id.Clinical_Characteristics" target="NBK537721">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK537721#syngap1-id.Genetically_Related_Allelic_D" target="NBK537721">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK537721#syngap1-id.Differential_Diagnosis" target="NBK537721">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK537721#syngap1-id.Management" target="NBK537721">Management</a> | <a class="medgenPMinfo" href="/books/NBK537721#syngap1-id.Genetic_Counseling" target="NBK537721">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK537721#syngap1-id.Resources" target="NBK537721">Resources</a> | <a class="medgenPMinfo" href="/books/NBK537721#syngap1-id.Molecular_Genetics" target="NBK537721">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK537721#syngap1-id.Chapter_Notes" target="NBK537721">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK537721#syngap1-id.References" target="NBK537721">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
J Lloyd Holder | Fadi F Hamdan | Jacques L Michaud <a href="/books/NBK537721" target="NBK537721" title="NCBI Bookshelf: SYNGAP1-Related Intellectual Disability">view full author information</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Intellectual developmental disorder-5 (MRD5) is characterized by moderately to severely impaired intellectual development with delayed psychomotor development apparent in the first years of life. Most patients develop variable types of seizures, some have autism or autism spectrum disorder (see 209850), and some have acquired microcephaly (summary by Berryer et al., 2013). <a target="_blank" href="http://www.omim.org/entry/612621">http://www.omim.org/entry/612621</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder, which is characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have autism spectrum disorder. <a target="_blank" href="https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability">https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_44069"><div><strong>Language disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44069</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.">C0023015</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44069">Feature record</a> | <a href="/medgen?term=%22Language%20disorder%22%5BClinical%20Features%5D%20OR%2044069%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7680"><div><strong>Intellectual disability, moderate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7680</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.">C0026351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7680">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20moderate%22%5BClinical%20Features%5D%20OR%207680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11859"><div><strong>Torticollis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11859</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.">C0040485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11859">Feature record</a> | <a href="/medgen?term=%22Torticollis%22%5BClinical%20Features%5D%20OR%2011859%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56235"><div><strong>EEG abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56235</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.">C0151611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56235">Feature record</a> | <a href="/medgen?term=%22EEG%20abnormality%22%5BClinical%20Features%5D%20OR%2056235%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_452596"><div><strong>Epileptic encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452596</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.">C0543888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452596">Feature record</a> | <a href="/medgen?term=%22Epileptic%20encephalopathy%22%5BClinical%20Features%5D%20OR%20452596%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869094"><div><strong>Myoclonic absence seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869094</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.">C4023512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869094">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20absence%20seizure%22%5BClinical%20Features%5D%20OR%20869094%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1643639"><div><strong>Brain atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643639</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.">C4551584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Partial or complete wasting (loss) of brain tissue that was once present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643639">Feature record</a> | <a href="/medgen?term=%22Brain%20atrophy%22%5BClinical%20Features%5D%20OR%201643639%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8484"><div><strong>Drooling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8484</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Habitual flow of saliva out of the mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8484">Feature record</a> | <a href="/medgen?term=%22Drooling%22%5BClinical%20Features%5D%20OR%208484%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_86902"><div><strong>Congenital muscular torticollis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86902</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.">C0079352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86902">Feature record</a> | <a href="/medgen?term=%22Congenital%20muscular%20torticollis%22%5BClinical%20Features%5D%20OR%2086902%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%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_86902" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital muscular torticollis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8484" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Drooling</a></span></li></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_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1643639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG abnormality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic encephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, moderate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Language disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic absence seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11859" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torticollis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675473[DISCUI]&test_type=Clinical" ref="ncbi_uid=382611">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382611" target="_blank" href="/omim/603384">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK537721/" ref="ncbi_uid=382611">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382611" ref="ncbi_uid=382611">V</a></span></span><span class="TLline">Intellectual disability, autosomal dominant 5</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/453059" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder">Neurodevelopmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/453059" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder">Neurodevelopmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/7544" ref="tree=MeSH" title="MedGen record for Mental Retardation">Mental Retardation</a></span><ul><li><span class="matched_ds">Intellectual disability, autosomal dominant 5</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/37183190">Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Onofrio G,
|
||
Accogli A,
|
||
Severino M,
|
||
Caliskan H,
|
||
Kokotović T,
|
||
Blazekovic A,
|
||
Jercic KG,
|
||
Markovic S,
|
||
Zigman T,
|
||
Goran K,
|
||
Barišić N,
|
||
Duranovic V,
|
||
Ban A,
|
||
Borovecki F,
|
||
Ramadža DP,
|
||
Barić I,
|
||
Fazeli W,
|
||
Herkenrath P,
|
||
Marini C,
|
||
Vittorini R,
|
||
Gowda V,
|
||
Bouman A,
|
||
Rocca C,
|
||
Alkhawaja IA,
|
||
Murtaza BN,
|
||
Rehman MMU,
|
||
Al Alam C,
|
||
Nader G,
|
||
Mancardi MM,
|
||
Giacomini T,
|
||
Srivastava S,
|
||
Alvi JR,
|
||
Tomoum H,
|
||
Matricardi S,
|
||
Iacomino M,
|
||
Riva A,
|
||
Scala M,
|
||
Madia F,
|
||
Pistorio A,
|
||
Salpietro V,
|
||
Minetti C,
|
||
Rivière JB,
|
||
Srour M,
|
||
Efthymiou S,
|
||
Maroofian R,
|
||
Houlden H,
|
||
Vernes SC,
|
||
Zara F,
|
||
Striano P,
|
||
Nagy V</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2023 Jul;142(7):909-925.
|
||
Epub 2023 May 14
|
||
doi: 10.1007/s00439-023-02552-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37183190" target="_blank">37183190</a><a href="/pmc/articles/PMC10329570" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31904124">Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gardella E,
|
||
Møller RS</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2019 Dec;60 Suppl 3:S77-S85.
|
||
doi: 10.1111/epi.16319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31904124" target="_blank">31904124</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20autosomal%20dominant%205)%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 (5)</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/38117302">Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmetz A,
|
||
Lüdecke HJ,
|
||
Surowy H,
|
||
Sivalingam S,
|
||
Bruel AL,
|
||
Caumes R,
|
||
Charles P,
|
||
Chatron N,
|
||
Chrzanowska K,
|
||
Codina-Solà M,
|
||
Colson C,
|
||
Cuscó I,
|
||
Denommé-Pichon AS,
|
||
Edery P,
|
||
Faivre L,
|
||
Green A,
|
||
Heide S,
|
||
Hsieh TC,
|
||
Hustinx A,
|
||
Kleinendorst L,
|
||
Knopp C,
|
||
Kraft F,
|
||
Krawitz PM,
|
||
Lasa-Aranzasti A,
|
||
Lesca G,
|
||
López-González V,
|
||
Maraval J,
|
||
Mignot C,
|
||
Neuhann T,
|
||
Netzer C,
|
||
Oehl-Jaschkowitz B,
|
||
Petit F,
|
||
Philippe C,
|
||
Posmyk R,
|
||
Putoux A,
|
||
Reis A,
|
||
Sánchez-Soler MJ,
|
||
Suh J,
|
||
Tkemaladze T,
|
||
Tran Mau Them F,
|
||
Travessa A,
|
||
Trujillano L,
|
||
Valenzuela I,
|
||
van Haelst MM,
|
||
Vasileiou G,
|
||
Vincent-Delorme C,
|
||
Walther M,
|
||
Verde P,
|
||
Bramswig NC,
|
||
Wieczorek D</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2024 Jan;143(1):71-84.
|
||
Epub 2023 Dec 20
|
||
doi: 10.1007/s00439-023-02622-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38117302" target="_blank">38117302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37183572">Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wojcik MH,
|
||
Srivastava S,
|
||
Agrawal PB,
|
||
Balci TB,
|
||
Callewaert B,
|
||
Calvo PL,
|
||
Carli D,
|
||
Caudle M,
|
||
Colaiacovo S,
|
||
Cross L,
|
||
Demetriou K,
|
||
Drazba K,
|
||
Dutra-Clarke M,
|
||
Edwards M,
|
||
Genetti CA,
|
||
Grange DK,
|
||
Hickey SE,
|
||
Isidor B,
|
||
Küry S,
|
||
Lachman HM,
|
||
Lavillaureix A,
|
||
Lyons MJ,
|
||
Marcelis C,
|
||
Marco EJ,
|
||
Martinez-Agosto JA,
|
||
Nowak C,
|
||
Pizzol A,
|
||
Planes M,
|
||
Prijoles EJ,
|
||
Riberi E,
|
||
Rush ET,
|
||
Russell BE,
|
||
Sachdev R,
|
||
Schmalz B,
|
||
Shears D,
|
||
Stevenson DA,
|
||
Wilson K,
|
||
Jansen S,
|
||
de Vries BBA,
|
||
Curry CJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Jul;191(7):1900-1910.
|
||
Epub 2023 May 14
|
||
doi: 10.1002/ajmg.a.63226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37183572" target="_blank">37183572</a><a href="/pmc/articles/PMC10330231" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34358384">Clinical experience with non-invasive prenatal screening for single-gene disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohan P,
|
||
Lemoine J,
|
||
Trotter C,
|
||
Rakova I,
|
||
Billings P,
|
||
Peacock S,
|
||
Kao CY,
|
||
Wang Y,
|
||
Xia F,
|
||
Eng CM,
|
||
Benn P</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2022 Jan;59(1):33-39.
|
||
doi: 10.1002/uog.23756.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34358384" target="_blank">34358384</a><a href="/pmc/articles/PMC9302116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33944996">Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parenti I,
|
||
Lehalle D,
|
||
Nava C,
|
||
Torti E,
|
||
Leitão E,
|
||
Person R,
|
||
Mizuguchi T,
|
||
Matsumoto N,
|
||
Kato M,
|
||
Nakamura K,
|
||
de Man SA,
|
||
Cope H,
|
||
Shashi V;
|
||
Undiagnosed Diseases Network,
|
||
Friedman J,
|
||
Joset P,
|
||
Steindl K,
|
||
Rauch A,
|
||
Muffels I,
|
||
van Hasselt PM,
|
||
Petit F,
|
||
Smol T,
|
||
Le Guyader G,
|
||
Bilan F,
|
||
Sorlin A,
|
||
Vitobello A,
|
||
Philippe C,
|
||
van de Laar IMBH,
|
||
van Slegtenhorst MA,
|
||
Campeau PM,
|
||
Au PYB,
|
||
Nakashima M,
|
||
Saitsu H,
|
||
Yamamoto T,
|
||
Nomura Y,
|
||
Louie RJ,
|
||
Lyons MJ,
|
||
Dobson A,
|
||
Plomp AS,
|
||
Motazacker MM,
|
||
Kaiser FJ,
|
||
Timberlake AT,
|
||
Fuchs SA,
|
||
Depienne C,
|
||
Mignot C</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2021 Jul;140(7):1109-1120.
|
||
Epub 2021 May 4
|
||
doi: 10.1007/s00439-021-02283-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33944996" target="_blank">33944996</a><a href="/pmc/articles/PMC8197709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10205261">Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones AC,
|
||
Shyamsundar MM,
|
||
Thomas MW,
|
||
Maynard J,
|
||
Idziaszczyk S,
|
||
Tomkins S,
|
||
Sampson JR,
|
||
Cheadle JP</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1999 May;64(5):1305-15.
|
||
doi: 10.1086/302381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10205261" target="_blank">10205261</a><a href="/pmc/articles/PMC1377866" 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%205%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 (60)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38117302">Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmetz A,
|
||
Lüdecke HJ,
|
||
Surowy H,
|
||
Sivalingam S,
|
||
Bruel AL,
|
||
Caumes R,
|
||
Charles P,
|
||
Chatron N,
|
||
Chrzanowska K,
|
||
Codina-Solà M,
|
||
Colson C,
|
||
Cuscó I,
|
||
Denommé-Pichon AS,
|
||
Edery P,
|
||
Faivre L,
|
||
Green A,
|
||
Heide S,
|
||
Hsieh TC,
|
||
Hustinx A,
|
||
Kleinendorst L,
|
||
Knopp C,
|
||
Kraft F,
|
||
Krawitz PM,
|
||
Lasa-Aranzasti A,
|
||
Lesca G,
|
||
López-González V,
|
||
Maraval J,
|
||
Mignot C,
|
||
Neuhann T,
|
||
Netzer C,
|
||
Oehl-Jaschkowitz B,
|
||
Petit F,
|
||
Philippe C,
|
||
Posmyk R,
|
||
Putoux A,
|
||
Reis A,
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%205%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 (120)</a></div><h3 class="subhead">Therapy</h3>
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Altuna M,
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Pegueroles J,
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Wilson LR,
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Annus T,
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Videla S,
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Holland AJ,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%205%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 (39)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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2023 Aug 1;36(4):292-301.
|
||
Epub 2023 May 24
|
||
doi: 10.1097/WCO.0000000000001167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37366140" target="_blank">37366140</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/36757831">The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Saffari A,
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Lau T,
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Tajsharghi H,
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Karimiani EG,
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Kariminejad A,
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Efthymiou S,
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Zifarelli G,
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Sultan T,
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Toosi MB,
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Sedighzadeh S,
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Siu VM,
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Ortigoza-Escobar JD,
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AlShamsi AM,
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Ibrahim S,
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Sandra W,
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Menezes MJ,
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Oppermann H,
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Ghavideldarestani M,
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Herman I,
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Faure J,
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Baker J,
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Calderwood L,
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Akhondian J,
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Imannezhad S,
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Mirzadeh HS,
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Hashemi N,
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Doosti M,
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Safi M,
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Ahangari N,
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Torbati PN,
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Abedini S,
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Salpietro V,
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Gulec EY,
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Eshaghian S,
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Ghazavi M,
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Pascher MT,
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Vogel M,
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Abicht A,
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Moutton S,
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Bruel AL,
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Rieubland C,
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Strom TM,
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Lochmüller H,
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Mohammadi MH,
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Alvi JR,
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Zackai EH,
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Keena BA,
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Skraban CM,
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Berger SI,
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Andrew EH,
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Rahimian E,
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Morrow MM,
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Wentzensen IM,
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Millan F,
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Henderson LB,
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Dafsari HS,
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Jungbluth H,
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Gomez-Ospina N,
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McRae A,
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Peter M,
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Veltra D,
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Marinakis NM,
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Sofocleous C,
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Ashrafzadeh F,
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Pehlivan D,
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Lemke JR,
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Melki J,
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Benezit A,
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Bauer P,
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Weis D,
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Lupski JR,
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Senderek J,
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Christodoulou J,
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Chung WK,
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Goodchild R,
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Offiah AC,
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Moreno-De-Luca A,
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Suri M,
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Ebrahimi-Fakhari D,
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Houlden H,
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Maroofian R</span><br />
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<span class="medgenPMjournal">Brain</span>
|
||
2023 Aug 1;146(8):3273-3288.
|
||
doi: 10.1093/brain/awad039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36757831" target="_blank">36757831</a><a href="/pmc/articles/PMC10393417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34358384">Clinical experience with non-invasive prenatal screening for single-gene disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohan P,
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Lemoine J,
|
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Trotter C,
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Rakova I,
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Billings P,
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Peacock S,
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Kao CY,
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Wang Y,
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Xia F,
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Eng CM,
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Benn P</span><br />
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<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2022 Jan;59(1):33-39.
|
||
doi: 10.1002/uog.23756.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34358384" target="_blank">34358384</a><a href="/pmc/articles/PMC9302116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33944996">Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parenti I,
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Lehalle D,
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Nava C,
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Torti E,
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Leitão E,
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Person R,
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Mizuguchi T,
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Matsumoto N,
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Kato M,
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Nakamura K,
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de Man SA,
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Cope H,
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Shashi V;
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Undiagnosed Diseases Network,
|
||
Friedman J,
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Joset P,
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Steindl K,
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Rauch A,
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Muffels I,
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van Hasselt PM,
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Petit F,
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Smol T,
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Le Guyader G,
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||
Bilan F,
|
||
Sorlin A,
|
||
Vitobello A,
|
||
Philippe C,
|
||
van de Laar IMBH,
|
||
van Slegtenhorst MA,
|
||
Campeau PM,
|
||
Au PYB,
|
||
Nakashima M,
|
||
Saitsu H,
|
||
Yamamoto T,
|
||
Nomura Y,
|
||
Louie RJ,
|
||
Lyons MJ,
|
||
Dobson A,
|
||
Plomp AS,
|
||
Motazacker MM,
|
||
Kaiser FJ,
|
||
Timberlake AT,
|
||
Fuchs SA,
|
||
Depienne C,
|
||
Mignot C</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2021 Jul;140(7):1109-1120.
|
||
Epub 2021 May 4
|
||
doi: 10.1007/s00439-021-02283-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33944996" target="_blank">33944996</a><a href="/pmc/articles/PMC8197709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10205261">Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones AC,
|
||
Shyamsundar MM,
|
||
Thomas MW,
|
||
Maynard J,
|
||
Idziaszczyk S,
|
||
Tomkins S,
|
||
Sampson JR,
|
||
Cheadle JP</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1999 May;64(5):1305-15.
|
||
doi: 10.1086/302381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10205261" target="_blank">10205261</a><a href="/pmc/articles/PMC1377866" 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%205%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 (65)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/35762114">Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simmers R,
|
||
Goodwin A,
|
||
Al Saif H,
|
||
Couser N</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Oct;43(5):699-702.
|
||
Epub 2022 Jun 27
|
||
doi: 10.1080/13816810.2022.2089358.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35762114" target="_blank">35762114</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%205%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>
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||
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|
||
</div></div></div></div></div></div></div>
|
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||
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</div>
|
||
<div class="supplemental col three_col last">
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||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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||
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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=C2675473%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675473%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675473%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675473%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (39)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675473%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2675473%5bDISCUI%5d" target="_blank">See all (43)</a></total></li>
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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=612621" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Intellectual%20disability,%20autosomal%20dominant%205" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20autosomal%20dominant%205)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=603384" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=8831[geneid]" target="_blank">View SYNGAP1 variations in ClinVar</a></li><li><a href="/nuccore/270265813" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=612621" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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||
|
||
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||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Mental+retardation%2C+autosomal+dominant+5/8828" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/intellectual_developmental_disorder_autosomal_dominant_5" 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%205" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/12558/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
||
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|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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<a href="/pubmed/30789692" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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|
||
<li>
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||
<a href="/pubmed/clinical?term=Intellectual%20disability,%20autosomal%20dominant%205" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Intellectual%20disability,%20autosomal%20dominant%205%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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