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<meta name="keywords" content="C5676998, disease or syndrome, nedlds, neurodevelopmental disorder with language delay and seizures, tiam1, 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="Neurodevelopmental disorder with language delay and seizures (NEDLDS) is an autosomal recessive disorder characterized by global developmental delay with mild to severely impaired intellectual development and speech delay with poor or absent language. Affected individuals develop early-onset seizures that are usually well-controlled with medication. Additional features may include axial hypotonia, peripheral hypertonia, hypothyroidism, and nonspecific dysmorphic features or brain imaging abnormalities (Lu et al., 2022)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1805816
|
||
ConceptID=C5676998
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with language delay and seizures<span class="h1sub">(NEDLDS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1805816</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:">C5676998</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>NEDLDS</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="TIAM1 - ID: 7074 - NCBI Gene" href="/gene/7074" class="medgenPMinfo">TIAM1</a> (21q22.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0859256" target="_blank">MONDO:0859256</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619908" target="_blank">619908</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">Neurodevelopmental disorder with language delay and seizures (NEDLDS) is an autosomal recessive disorder characterized by global developmental delay with mild to severely impaired intellectual development and speech delay with poor or absent language. Affected individuals develop early-onset seizures that are usually well-controlled with medication. Additional features may include axial hypotonia, peripheral hypertonia, hypothyroidism, and nonspecific dysmorphic features or brain imaging abnormalities (Lu et al., 2022). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</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_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</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.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</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.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</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.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%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_137970"><div><strong>Hamartoma of hypothalamus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137970</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.">C0342418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pallister-Hall-like syndrome (PHLS) is a pleiotropic autosomal recessive disorder characterized by phenotypic variability. Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. Hirschsprung disease has also been observed (Rubino et al., 2018; Le et al., 2020). Pallister-Hall syndrome (146510) is an autosomal dominant disorder with features overlapping those of PHLS, caused by mutation in the GLI3 gene (165240).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137970">Feature record</a> | <a href="/medgen?term=%22Hamartoma%20of%20hypothalamus%22%5BClinical%20Features%5D%20OR%20137970%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108958"><div><strong>Diffuse cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108958</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.">C0598275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diffuse unlocalised atrophy affecting the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108958">Feature record</a> | <a href="/medgen?term=%22Diffuse%20cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20108958%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_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322417"><div><strong>Obsessive-compulsive trait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322417</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.">C1834433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322417">Feature record</a> | <a href="/medgen?term=%22Obsessive-compulsive%20trait%22%5BClinical%20Features%5D%20OR%20322417%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_892446"><div><strong>CNS hypomyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892446</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.">C4025616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892446">Feature record</a> | <a href="/medgen?term=%22CNS%20hypomyelination%22%5BClinical%20Features%5D%20OR%20892446%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1785336"><div><strong>Thin corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785336</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5441562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785336">Feature record</a> | <a href="/medgen?term=%22Thin%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%201785336%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342959"><div><strong>Axial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342959</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.">C1853743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342959">Feature record</a> | <a href="/medgen?term=%22Axial%20hypotonia%22%5BClinical%20Features%5D%20OR%20342959%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57481"><div><strong>Hypomagnesemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57481</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.">C0151723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased magnesium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57481">Feature record</a> | <a href="/medgen?term=%22Hypomagnesemia%22%5BClinical%20Features%5D%20OR%2057481%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6991"><div><strong>Hypothyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6991</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.">C0020676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deficiency of thyroid hormone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6991">Feature record</a> | <a href="/medgen?term=%22Hypothyroidism%22%5BClinical%20Features%5D%20OR%206991%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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57481" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomagnesemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypothyroidism</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</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_342959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial hypotonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CNS hypomyelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108958" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diffuse cerebral atrophy</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_137970" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hamartoma of hypothalamus</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_322417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obsessive-compulsive trait</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_1785336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin corpus callosum</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37791592">Caffeine versus other methylxanthines for the prevention and treatment of apnea in preterm infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moresco L,
|
||
Sjögren A,
|
||
Marques KA,
|
||
Soll R,
|
||
Bruschettini M</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2023 Oct 4;10(10):CD015462.
|
||
doi: 10.1002/14651858.CD015462.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37791592" target="_blank">37791592</a><a href="/pmc/articles/PMC10548499" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35150089">A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duis J,
|
||
Nespeca M,
|
||
Summers J,
|
||
Bird L,
|
||
Bindels-de Heus KGCB,
|
||
Valstar MJ,
|
||
de Wit MY,
|
||
Navis C,
|
||
Ten Hooven-Radstaake M,
|
||
van Iperen-Kolk BM,
|
||
Ernst S,
|
||
Dendrinos M,
|
||
Katz T,
|
||
Diaz-Medina G,
|
||
Katyayan A,
|
||
Nangia S,
|
||
Thibert R,
|
||
Glaze D,
|
||
Keary C,
|
||
Pelc K,
|
||
Simon N,
|
||
Sadhwani A,
|
||
Heussler H,
|
||
Wheeler A,
|
||
Woeber C,
|
||
DeRamus M,
|
||
Thomas A,
|
||
Kertcher E,
|
||
DeValk L,
|
||
Kalemeris K,
|
||
Arps K,
|
||
Baym C,
|
||
Harris N,
|
||
Gorham JP,
|
||
Bohnsack BL,
|
||
Chambers RC,
|
||
Harris S,
|
||
Chambers HG,
|
||
Okoniewski K,
|
||
Jalazo ER,
|
||
Berent A,
|
||
Bacino CA,
|
||
Williams C,
|
||
Anderson A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2022 Mar;10(3):e1843.
|
||
Epub 2022 Feb 11
|
||
doi: 10.1002/mgg3.1843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35150089" target="_blank">35150089</a><a href="/pmc/articles/PMC8922964" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34882995">Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cardenal-Muñoz E,
|
||
Auvin S,
|
||
Villanueva V,
|
||
Cross JH,
|
||
Zuberi SM,
|
||
Lagae L,
|
||
Aibar JÁ</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2022 Mar;7(1):11-26.
|
||
Epub 2021 Dec 19
|
||
doi: 10.1002/epi4.12569.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34882995" target="_blank">34882995</a><a href="/pmc/articles/PMC8886070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodevelopmental%20disorder%20with%20language%20delay%20and%20seizures)%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 (24)</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/36194365">Psychobehavioural and Cognitive Adverse Events of Anti-Seizure Medications for the Treatment of Developmental and Epileptic Encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
|
||
Schubert-Bast S</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2022 Oct;36(10):1079-1111.
|
||
Epub 2022 Oct 4
|
||
doi: 10.1007/s40263-022-00955-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36194365" target="_blank">36194365</a><a href="/pmc/articles/PMC9531646" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35150089">A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duis J,
|
||
Nespeca M,
|
||
Summers J,
|
||
Bird L,
|
||
Bindels-de Heus KGCB,
|
||
Valstar MJ,
|
||
de Wit MY,
|
||
Navis C,
|
||
Ten Hooven-Radstaake M,
|
||
van Iperen-Kolk BM,
|
||
Ernst S,
|
||
Dendrinos M,
|
||
Katz T,
|
||
Diaz-Medina G,
|
||
Katyayan A,
|
||
Nangia S,
|
||
Thibert R,
|
||
Glaze D,
|
||
Keary C,
|
||
Pelc K,
|
||
Simon N,
|
||
Sadhwani A,
|
||
Heussler H,
|
||
Wheeler A,
|
||
Woeber C,
|
||
DeRamus M,
|
||
Thomas A,
|
||
Kertcher E,
|
||
DeValk L,
|
||
Kalemeris K,
|
||
Arps K,
|
||
Baym C,
|
||
Harris N,
|
||
Gorham JP,
|
||
Bohnsack BL,
|
||
Chambers RC,
|
||
Harris S,
|
||
Chambers HG,
|
||
Okoniewski K,
|
||
Jalazo ER,
|
||
Berent A,
|
||
Bacino CA,
|
||
Williams C,
|
||
Anderson A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2022 Mar;10(3):e1843.
|
||
Epub 2022 Feb 11
|
||
doi: 10.1002/mgg3.1843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35150089" target="_blank">35150089</a><a href="/pmc/articles/PMC8922964" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33232677">Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duncan AR,
|
||
Vitobello A,
|
||
Collins SC,
|
||
Vancollie VE,
|
||
Lelliott CJ,
|
||
Rodan L,
|
||
Shi J,
|
||
Seman AR,
|
||
Agolini E,
|
||
Novelli A,
|
||
Prontera P,
|
||
Guillen Sacoto MJ,
|
||
Santiago-Sim T,
|
||
Trimouille A,
|
||
Goizet C,
|
||
Nizon M,
|
||
Bruel AL,
|
||
Philippe C,
|
||
Grant PE,
|
||
Wojcik MH,
|
||
Stoler J,
|
||
Genetti CA,
|
||
van Dooren MF,
|
||
Maas SM,
|
||
Alders M,
|
||
Faivre L,
|
||
Sorlin A,
|
||
Yoon G,
|
||
Yalcin B,
|
||
Agrawal PB</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2020 Dec 3;107(6):1170-1177.
|
||
Epub 2020 Nov 23
|
||
doi: 10.1016/j.ajhg.2020.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33232677" target="_blank">33232677</a><a href="/pmc/articles/PMC7820620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30031152">NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Shehhi M,
|
||
Forman EB,
|
||
Fitzgerald JE,
|
||
McInerney V,
|
||
Krawczyk J,
|
||
Shen S,
|
||
Betts DR,
|
||
Ardle LM,
|
||
Gorman KM,
|
||
King MD,
|
||
Green A,
|
||
Gallagher L,
|
||
Lynch SA</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2019 Mar;62(3):204-209.
|
||
Epub 2018 Jul 18
|
||
doi: 10.1016/j.ejmg.2018.07.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30031152" target="_blank">30031152</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25689425">The 15q11.2 BP1-BP2 microdeletion syndrome: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox DM,
|
||
Butler MG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2015 Feb 13;16(2):4068-82.
|
||
doi: 10.3390/ijms16024068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25689425" target="_blank">25689425</a><a href="/pmc/articles/PMC4346944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20seizures%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 (151)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35150089">A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duis J,
|
||
Nespeca M,
|
||
Summers J,
|
||
Bird L,
|
||
Bindels-de Heus KGCB,
|
||
Valstar MJ,
|
||
de Wit MY,
|
||
Navis C,
|
||
Ten Hooven-Radstaake M,
|
||
van Iperen-Kolk BM,
|
||
Ernst S,
|
||
Dendrinos M,
|
||
Katz T,
|
||
Diaz-Medina G,
|
||
Katyayan A,
|
||
Nangia S,
|
||
Thibert R,
|
||
Glaze D,
|
||
Keary C,
|
||
Pelc K,
|
||
Simon N,
|
||
Sadhwani A,
|
||
Heussler H,
|
||
Wheeler A,
|
||
Woeber C,
|
||
DeRamus M,
|
||
Thomas A,
|
||
Kertcher E,
|
||
DeValk L,
|
||
Kalemeris K,
|
||
Arps K,
|
||
Baym C,
|
||
Harris N,
|
||
Gorham JP,
|
||
Bohnsack BL,
|
||
Chambers RC,
|
||
Harris S,
|
||
Chambers HG,
|
||
Okoniewski K,
|
||
Jalazo ER,
|
||
Berent A,
|
||
Bacino CA,
|
||
Williams C,
|
||
Anderson A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2022 Mar;10(3):e1843.
|
||
Epub 2022 Feb 11
|
||
doi: 10.1002/mgg3.1843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35150089" target="_blank">35150089</a><a href="/pmc/articles/PMC8922964" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34882995">Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cardenal-Muñoz E,
|
||
Auvin S,
|
||
Villanueva V,
|
||
Cross JH,
|
||
Zuberi SM,
|
||
Lagae L,
|
||
Aibar JÁ</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2022 Mar;7(1):11-26.
|
||
Epub 2021 Dec 19
|
||
doi: 10.1002/epi4.12569.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34882995" target="_blank">34882995</a><a href="/pmc/articles/PMC8886070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34345025">Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weerts MJA,
|
||
Lanko K,
|
||
Guzmán-Vega FJ,
|
||
Jackson A,
|
||
Ramakrishnan R,
|
||
Cardona-Londoño KJ,
|
||
Peña-Guerra KA,
|
||
van Bever Y,
|
||
van Paassen BW,
|
||
Kievit A,
|
||
van Slegtenhorst M,
|
||
Allen NM,
|
||
Kehoe CM,
|
||
Robinson HK,
|
||
Pang L,
|
||
Banu SH,
|
||
Zaman M,
|
||
Efthymiou S,
|
||
Houlden H,
|
||
Järvelä I,
|
||
Lauronen L,
|
||
Määttä T,
|
||
Schrauwen I,
|
||
Leal SM,
|
||
Ruivenkamp CAL,
|
||
Barge-Schaapveld DQCM,
|
||
Peeters-Scholte CMPCD,
|
||
Galehdari H,
|
||
Mazaheri N,
|
||
Sisodiya SM,
|
||
Harrison V,
|
||
Sun A,
|
||
Thies J,
|
||
Pedroza LA,
|
||
Lara-Taranchenko Y,
|
||
Chinn IK,
|
||
Lupski JR,
|
||
Garza-Flores A,
|
||
McGlothlin J,
|
||
Yang L,
|
||
Huang S,
|
||
Wang X,
|
||
Jewett T,
|
||
Rosso G,
|
||
Lin X,
|
||
Mohammed S,
|
||
Merritt JL 2nd,
|
||
Mirzaa GM,
|
||
Timms AE,
|
||
Scheck J,
|
||
Elting MW,
|
||
Polstra AM,
|
||
Schenck L,
|
||
Ruzhnikov MRZ,
|
||
Vetro A,
|
||
Montomoli M,
|
||
Guerrini R,
|
||
Koboldt DC,
|
||
Mosher TM,
|
||
Pastore MT,
|
||
McBride KL,
|
||
Peng J,
|
||
Pan Z,
|
||
Willemsen M,
|
||
Koning S,
|
||
Turnpenny PD,
|
||
de Vries BBA,
|
||
Gilissen C,
|
||
Pfundt R,
|
||
Lees M,
|
||
Braddock SR,
|
||
Klemp KC,
|
||
Vansenne F,
|
||
van Gijn ME,
|
||
Quindipan C,
|
||
Deardorff MA,
|
||
Hamm JA,
|
||
Putnam AM,
|
||
Baud R,
|
||
Walsh L,
|
||
Lynch SA,
|
||
Baptista J,
|
||
Person RE,
|
||
Monaghan KG,
|
||
Crunk A,
|
||
Keller-Ramey J,
|
||
Reich A,
|
||
Elloumi HZ,
|
||
Alders M,
|
||
Kerkhof J,
|
||
McConkey H,
|
||
Haghshenas S;
|
||
Genomics England Research Consortium,
|
||
Maroofian R,
|
||
Sadikovic B,
|
||
Banka S,
|
||
Arold ST,
|
||
Barakat TS</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Nov;23(11):2122-2137.
|
||
Epub 2021 Aug 3
|
||
doi: 10.1038/s41436-021-01246-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34345025" target="_blank">34345025</a><a href="/pmc/articles/PMC8553606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34211179">Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cousin MA,
|
||
Creighton BA,
|
||
Breau KA,
|
||
Spillmann RC,
|
||
Torti E,
|
||
Dontu S,
|
||
Tripathi S,
|
||
Ajit D,
|
||
Edwards RJ,
|
||
Afriyie S,
|
||
Bay JC,
|
||
Harper KM,
|
||
Beltran AA,
|
||
Munoz LJ,
|
||
Falcon Rodriguez L,
|
||
Stankewich MC,
|
||
Person RE,
|
||
Si Y,
|
||
Normand EA,
|
||
Blevins A,
|
||
May AS,
|
||
Bier L,
|
||
Aggarwal V,
|
||
Mancini GMS,
|
||
van Slegtenhorst MA,
|
||
Cremer K,
|
||
Becker J,
|
||
Engels H,
|
||
Aretz S,
|
||
MacKenzie JJ,
|
||
Brilstra E,
|
||
van Gassen KLI,
|
||
van Jaarsveld RH,
|
||
Oegema R,
|
||
Parsons GM,
|
||
Mark P,
|
||
Helbig I,
|
||
McKeown SE,
|
||
Stratton R,
|
||
Cogne B,
|
||
Isidor B,
|
||
Cacheiro P,
|
||
Smedley D,
|
||
Firth HV,
|
||
Bierhals T,
|
||
Kloth K,
|
||
Weiss D,
|
||
Fairley C,
|
||
Shieh JT,
|
||
Kritzer A,
|
||
Jayakar P,
|
||
Kurtz-Nelson E,
|
||
Bernier RA,
|
||
Wang T,
|
||
Eichler EE,
|
||
van de Laar IMBH,
|
||
McConkie-Rosell A,
|
||
McDonald MT,
|
||
Kemppainen J,
|
||
Lanpher BC,
|
||
Schultz-Rogers LE,
|
||
Gunderson LB,
|
||
Pichurin PN,
|
||
Yoon G,
|
||
Zech M,
|
||
Jech R,
|
||
Winkelmann J;
|
||
Undiagnosed Diseases Network;
|
||
Genomics England Research Consortium,
|
||
Beltran AS,
|
||
Zimmermann MT,
|
||
Temple B,
|
||
Moy SS,
|
||
Klee EW,
|
||
Tan QK,
|
||
Lorenzo DN</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2021 Jul;53(7):1006-1021.
|
||
Epub 2021 Jul 1
|
||
doi: 10.1038/s41588-021-00886-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34211179" target="_blank">34211179</a><a href="/pmc/articles/PMC8273149" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33522091">Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glinton KE,
|
||
Hurst ACE,
|
||
Bowling KM,
|
||
Cristian I,
|
||
Haynes D,
|
||
Adstamongkonkul D,
|
||
Schnappauf O,
|
||
Beck DB,
|
||
Brewer C,
|
||
Parikh AS,
|
||
Shinde DN,
|
||
Donaldson A,
|
||
Brautbar A,
|
||
Koene S,
|
||
van Haeringen A,
|
||
Piton A,
|
||
Capri Y,
|
||
Furlan M,
|
||
Gardella E,
|
||
Møller RS,
|
||
van de Beek I,
|
||
Zuurbier L,
|
||
Lakeman P,
|
||
Bayat A,
|
||
Martinez J,
|
||
Signer R,
|
||
Torring PM,
|
||
Engelund MB,
|
||
Gripp KW,
|
||
Amlie-Wolf L,
|
||
Henderson LB,
|
||
Midro AT,
|
||
Tarasów E,
|
||
Stasiewicz-Jarocka B,
|
||
Moskal-Jasinska D,
|
||
Vos P,
|
||
Boschann F,
|
||
Stoltenburg C,
|
||
Puk O,
|
||
Mero IL,
|
||
Lossius K,
|
||
Mignot C,
|
||
Keren B,
|
||
Acosta Guio JC,
|
||
Briceño I,
|
||
Gomez A,
|
||
Yang Y,
|
||
Stankiewicz P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 May;185(5):1366-1378.
|
||
Epub 2021 Jan 31
|
||
doi: 10.1002/ajmg.a.62102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33522091" target="_blank">33522091</a><a href="/pmc/articles/PMC8048530" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20seizures%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 (198)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38636407">Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang C,
|
||
Yang L,
|
||
Xiao F,
|
||
Yan K,
|
||
Zhou W</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2024 May;202:107363.
|
||
Epub 2024 Apr 17
|
||
doi: 10.1016/j.eplepsyres.2024.107363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38636407" target="_blank">38636407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29873961">Valproate in Pregnancy: Recent Research and Regulatory Responses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrade C</span><br />
|
||
<span class="medgenPMjournal">J Clin Psychiatry</span>
|
||
2018 May/Jun;79(3)
|
||
doi: 10.4088/JCP.18f12351.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29873961" target="_blank">29873961</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28729328">Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veroniki AA,
|
||
Rios P,
|
||
Cogo E,
|
||
Straus SE,
|
||
Finkelstein Y,
|
||
Kealey R,
|
||
Reynen E,
|
||
Soobiah C,
|
||
Thavorn K,
|
||
Hutton B,
|
||
Hemmelgarn BR,
|
||
Yazdi F,
|
||
D'Souza J,
|
||
MacDonald H,
|
||
Tricco AC</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2017 Jul 20;7(7):e017248.
|
||
doi: 10.1136/bmjopen-2017-017248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28729328" target="_blank">28729328</a><a href="/pmc/articles/PMC5642793" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23450537">Treatment of Lennox-Gastaut syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hancock EC,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Feb 28;2013(2):CD003277.
|
||
doi: 10.1002/14651858.CD003277.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23450537" target="_blank">23450537</a><a href="/pmc/articles/PMC7144815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12449265">Autism: a medical primer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prater CD,
|
||
Zylstra RG</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2002 Nov 1;66(9):1667-74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12449265" target="_blank">12449265</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20seizures%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 (51)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38636407">Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang C,
|
||
Yang L,
|
||
Xiao F,
|
||
Yan K,
|
||
Zhou W</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2024 May;202:107363.
|
||
Epub 2024 Apr 17
|
||
doi: 10.1016/j.eplepsyres.2024.107363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38636407" target="_blank">38636407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36323681">Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leitão E,
|
||
Schröder C,
|
||
Parenti I,
|
||
Dalle C,
|
||
Rastetter A,
|
||
Kühnel T,
|
||
Kuechler A,
|
||
Kaya S,
|
||
Gérard B,
|
||
Schaefer E,
|
||
Nava C,
|
||
Drouot N,
|
||
Engel C,
|
||
Piard J,
|
||
Duban-Bedu B,
|
||
Villard L,
|
||
Stegmann APA,
|
||
Vanhoutte EK,
|
||
Verdonschot JAJ,
|
||
Kaiser FJ,
|
||
Tran Mau-Them F,
|
||
Scala M,
|
||
Striano P,
|
||
Frints SGM,
|
||
Argilli E,
|
||
Sherr EH,
|
||
Elder F,
|
||
Buratti J,
|
||
Keren B,
|
||
Mignot C,
|
||
Héron D,
|
||
Mandel JL,
|
||
Gecz J,
|
||
Kalscheuer VM,
|
||
Horsthemke B,
|
||
Piton A,
|
||
Depienne C</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2022 Nov 2;13(1):6570.
|
||
doi: 10.1038/s41467-022-34264-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36323681" target="_blank">36323681</a><a href="/pmc/articles/PMC9630267" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35098539">Predictors of language regression and its association with subsequent communication development in children with autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pickles A,
|
||
Wright N,
|
||
Bedford R,
|
||
Steiman M,
|
||
Duku E,
|
||
Bennett T,
|
||
Georgiades S,
|
||
Kerns CM,
|
||
Mirenda P,
|
||
Smith IM,
|
||
Ungar WJ,
|
||
Vaillancourt T,
|
||
Waddell C,
|
||
Zaidman-Zait A,
|
||
Zwaigenbaum L,
|
||
Szatmari P,
|
||
Elsabbagh M;
|
||
Pathways in ASD Study Team</span><br />
|
||
<span class="medgenPMjournal">J Child Psychol Psychiatry</span>
|
||
2022 Nov;63(11):1243-1251.
|
||
Epub 2022 Jan 30
|
||
doi: 10.1111/jcpp.13565.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35098539" target="_blank">35098539</a><a href="/pmc/articles/PMC9786608" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33513338">Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">den Hoed J,
|
||
de Boer E,
|
||
Voisin N,
|
||
Dingemans AJM,
|
||
Guex N,
|
||
Wiel L,
|
||
Nellaker C,
|
||
Amudhavalli SM,
|
||
Banka S,
|
||
Bena FS,
|
||
Ben-Zeev B,
|
||
Bonagura VR,
|
||
Bruel AL,
|
||
Brunet T,
|
||
Brunner HG,
|
||
Chew HB,
|
||
Chrast J,
|
||
Cimbalistienė L,
|
||
Coon H;
|
||
DDD Study,
|
||
Délot EC,
|
||
Démurger F,
|
||
Denommé-Pichon AS,
|
||
Depienne C,
|
||
Donnai D,
|
||
Dyment DA,
|
||
Elpeleg O,
|
||
Faivre L,
|
||
Gilissen C,
|
||
Granger L,
|
||
Haber B,
|
||
Hachiya Y,
|
||
Abedi YH,
|
||
Hanebeck J,
|
||
Hehir-Kwa JY,
|
||
Horist B,
|
||
Itai T,
|
||
Jackson A,
|
||
Jewell R,
|
||
Jones KL,
|
||
Joss S,
|
||
Kashii H,
|
||
Kato M,
|
||
Kattentidt-Mouravieva AA,
|
||
Kok F,
|
||
Kotzaeridou U,
|
||
Krishnamurthy V,
|
||
Kučinskas V,
|
||
Kuechler A,
|
||
Lavillaureix A,
|
||
Liu P,
|
||
Manwaring L,
|
||
Matsumoto N,
|
||
Mazel B,
|
||
McWalter K,
|
||
Meiner V,
|
||
Mikati MA,
|
||
Miyatake S,
|
||
Mizuguchi T,
|
||
Moey LH,
|
||
Mohammed S,
|
||
Mor-Shaked H,
|
||
Mountford H,
|
||
Newbury-Ecob R,
|
||
Odent S,
|
||
Orec L,
|
||
Osmond M,
|
||
Palculict TB,
|
||
Parker M,
|
||
Petersen AK,
|
||
Pfundt R,
|
||
Preikšaitienė E,
|
||
Radtke K,
|
||
Ranza E,
|
||
Rosenfeld JA,
|
||
Santiago-Sim T,
|
||
Schwager C,
|
||
Sinnema M,
|
||
Snijders Blok L,
|
||
Spillmann RC,
|
||
Stegmann APA,
|
||
Thiffault I,
|
||
Tran L,
|
||
Vaknin-Dembinsky A,
|
||
Vedovato-Dos-Santos JH,
|
||
Schrier Vergano SA,
|
||
Vilain E,
|
||
Vitobello A,
|
||
Wagner M,
|
||
Waheeb A,
|
||
Willing M,
|
||
Zuccarelli B,
|
||
Kini U,
|
||
Newbury DF,
|
||
Kleefstra T,
|
||
Reymond A,
|
||
Fisher SE,
|
||
Vissers LELM</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2021 Feb 4;108(2):346-356.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1016/j.ajhg.2021.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33513338" target="_blank">33513338</a><a href="/pmc/articles/PMC7895900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23450537">Treatment of Lennox-Gastaut syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hancock EC,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Feb 28;2013(2):CD003277.
|
||
doi: 10.1002/14651858.CD003277.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23450537" target="_blank">23450537</a><a href="/pmc/articles/PMC7144815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20seizures%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 (86)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35979925">CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pavinato L,
|
||
Delle Vedove A,
|
||
Carli D,
|
||
Ferrero M,
|
||
Carestiato S,
|
||
Howe JL,
|
||
Agolini E,
|
||
Coviello DA,
|
||
van de Laar I,
|
||
Au PYB,
|
||
Di Gregorio E,
|
||
Fabbiani A,
|
||
Croci S,
|
||
Mencarelli MA,
|
||
Bruno LP,
|
||
Renieri A,
|
||
Veltra D,
|
||
Sofocleous C,
|
||
Faivre L,
|
||
Mazel B,
|
||
Safraou H,
|
||
Denommé-Pichon AS,
|
||
van Slegtenhorst MA,
|
||
Giesbertz N,
|
||
van Jaarsveld RH,
|
||
Childers A,
|
||
Rogers RC,
|
||
Novelli A,
|
||
De Rubeis S,
|
||
Buxbaum JD,
|
||
Scherer SW,
|
||
Ferrero GB,
|
||
Wirth B,
|
||
Brusco A</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Feb 13;146(2):534-548.
|
||
doi: 10.1093/brain/awac278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35979925" target="_blank">35979925</a><a href="/pmc/articles/PMC10169411" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34211179">Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cousin MA,
|
||
Creighton BA,
|
||
Breau KA,
|
||
Spillmann RC,
|
||
Torti E,
|
||
Dontu S,
|
||
Tripathi S,
|
||
Ajit D,
|
||
Edwards RJ,
|
||
Afriyie S,
|
||
Bay JC,
|
||
Harper KM,
|
||
Beltran AA,
|
||
Munoz LJ,
|
||
Falcon Rodriguez L,
|
||
Stankewich MC,
|
||
Person RE,
|
||
Si Y,
|
||
Normand EA,
|
||
Blevins A,
|
||
May AS,
|
||
Bier L,
|
||
Aggarwal V,
|
||
Mancini GMS,
|
||
van Slegtenhorst MA,
|
||
Cremer K,
|
||
Becker J,
|
||
Engels H,
|
||
Aretz S,
|
||
MacKenzie JJ,
|
||
Brilstra E,
|
||
van Gassen KLI,
|
||
van Jaarsveld RH,
|
||
Oegema R,
|
||
Parsons GM,
|
||
Mark P,
|
||
Helbig I,
|
||
McKeown SE,
|
||
Stratton R,
|
||
Cogne B,
|
||
Isidor B,
|
||
Cacheiro P,
|
||
Smedley D,
|
||
Firth HV,
|
||
Bierhals T,
|
||
Kloth K,
|
||
Weiss D,
|
||
Fairley C,
|
||
Shieh JT,
|
||
Kritzer A,
|
||
Jayakar P,
|
||
Kurtz-Nelson E,
|
||
Bernier RA,
|
||
Wang T,
|
||
Eichler EE,
|
||
van de Laar IMBH,
|
||
McConkie-Rosell A,
|
||
McDonald MT,
|
||
Kemppainen J,
|
||
Lanpher BC,
|
||
Schultz-Rogers LE,
|
||
Gunderson LB,
|
||
Pichurin PN,
|
||
Yoon G,
|
||
Zech M,
|
||
Jech R,
|
||
Winkelmann J;
|
||
Undiagnosed Diseases Network;
|
||
Genomics England Research Consortium,
|
||
Beltran AS,
|
||
Zimmermann MT,
|
||
Temple B,
|
||
Moy SS,
|
||
Klee EW,
|
||
Tan QK,
|
||
Lorenzo DN</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2021 Jul;53(7):1006-1021.
|
||
Epub 2021 Jul 1
|
||
doi: 10.1038/s41588-021-00886-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34211179" target="_blank">34211179</a><a href="/pmc/articles/PMC8273149" 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/33513338">Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">den Hoed J,
|
||
de Boer E,
|
||
Voisin N,
|
||
Dingemans AJM,
|
||
Guex N,
|
||
Wiel L,
|
||
Nellaker C,
|
||
Amudhavalli SM,
|
||
Banka S,
|
||
Bena FS,
|
||
Ben-Zeev B,
|
||
Bonagura VR,
|
||
Bruel AL,
|
||
Brunet T,
|
||
Brunner HG,
|
||
Chew HB,
|
||
Chrast J,
|
||
Cimbalistienė L,
|
||
Coon H;
|
||
DDD Study,
|
||
Délot EC,
|
||
Démurger F,
|
||
Denommé-Pichon AS,
|
||
Depienne C,
|
||
Donnai D,
|
||
Dyment DA,
|
||
Elpeleg O,
|
||
Faivre L,
|
||
Gilissen C,
|
||
Granger L,
|
||
Haber B,
|
||
Hachiya Y,
|
||
Abedi YH,
|
||
Hanebeck J,
|
||
Hehir-Kwa JY,
|
||
Horist B,
|
||
Itai T,
|
||
Jackson A,
|
||
Jewell R,
|
||
Jones KL,
|
||
Joss S,
|
||
Kashii H,
|
||
Kato M,
|
||
Kattentidt-Mouravieva AA,
|
||
Kok F,
|
||
Kotzaeridou U,
|
||
Krishnamurthy V,
|
||
Kučinskas V,
|
||
Kuechler A,
|
||
Lavillaureix A,
|
||
Liu P,
|
||
Manwaring L,
|
||
Matsumoto N,
|
||
Mazel B,
|
||
McWalter K,
|
||
Meiner V,
|
||
Mikati MA,
|
||
Miyatake S,
|
||
Mizuguchi T,
|
||
Moey LH,
|
||
Mohammed S,
|
||
Mor-Shaked H,
|
||
Mountford H,
|
||
Newbury-Ecob R,
|
||
Odent S,
|
||
Orec L,
|
||
Osmond M,
|
||
Palculict TB,
|
||
Parker M,
|
||
Petersen AK,
|
||
Pfundt R,
|
||
Preikšaitienė E,
|
||
Radtke K,
|
||
Ranza E,
|
||
Rosenfeld JA,
|
||
Santiago-Sim T,
|
||
Schwager C,
|
||
Sinnema M,
|
||
Snijders Blok L,
|
||
Spillmann RC,
|
||
Stegmann APA,
|
||
Thiffault I,
|
||
Tran L,
|
||
Vaknin-Dembinsky A,
|
||
Vedovato-Dos-Santos JH,
|
||
Schrier Vergano SA,
|
||
Vilain E,
|
||
Vitobello A,
|
||
Wagner M,
|
||
Waheeb A,
|
||
Willing M,
|
||
Zuccarelli B,
|
||
Kini U,
|
||
Newbury DF,
|
||
Kleefstra T,
|
||
Reymond A,
|
||
Fisher SE,
|
||
Vissers LELM</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2021 Feb 4;108(2):346-356.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1016/j.ajhg.2021.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33513338" target="_blank">33513338</a><a href="/pmc/articles/PMC7895900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25689425">The 15q11.2 BP1-BP2 microdeletion syndrome: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox DM,
|
||
Butler MG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2015 Feb 13;16(2):4068-82.
|
||
doi: 10.3390/ijms16024068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25689425" target="_blank">25689425</a><a href="/pmc/articles/PMC4346944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20seizures%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 (132)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38636407">Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang C,
|
||
Yang L,
|
||
Xiao F,
|
||
Yan K,
|
||
Zhou W</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2024 May;202:107363.
|
||
Epub 2024 Apr 17
|
||
doi: 10.1016/j.eplepsyres.2024.107363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38636407" target="_blank">38636407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38238638">Brain development in newborns and infants after ECMO.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yan K,
|
||
Tang LK,
|
||
Xiao FF,
|
||
Zhang P,
|
||
Cheng GQ,
|
||
Wang LS,
|
||
Lu CM,
|
||
Ge MM,
|
||
Hu LY,
|
||
Zhou YF,
|
||
Xiao TT,
|
||
Xu Y,
|
||
Yin ZQ,
|
||
Yan GF,
|
||
Lu GP,
|
||
Li Q,
|
||
Zhou WH</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2024 Jun;20(6):556-568.
|
||
Epub 2024 Jan 19
|
||
doi: 10.1007/s12519-023-00768-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38238638" target="_blank">38238638</a><a href="/pmc/articles/PMC11239726" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28729328">Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veroniki AA,
|
||
Rios P,
|
||
Cogo E,
|
||
Straus SE,
|
||
Finkelstein Y,
|
||
Kealey R,
|
||
Reynen E,
|
||
Soobiah C,
|
||
Thavorn K,
|
||
Hutton B,
|
||
Hemmelgarn BR,
|
||
Yazdi F,
|
||
D'Souza J,
|
||
MacDonald H,
|
||
Tricco AC</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2017 Jul 20;7(7):e017248.
|
||
doi: 10.1136/bmjopen-2017-017248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28729328" target="_blank">28729328</a><a href="/pmc/articles/PMC5642793" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23450537">Treatment of Lennox-Gastaut syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hancock EC,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Feb 28;2013(2):CD003277.
|
||
doi: 10.1002/14651858.CD003277.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23450537" target="_blank">23450537</a><a href="/pmc/articles/PMC7144815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19588340">Treatment of Lennox-Gastaut syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hancock EC,
|
||
Cross HH</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2009 Jul 8;(3):CD003277.
|
||
doi: 10.1002/14651858.CD003277.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19588340" target="_blank">19588340</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20seizures%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 (10)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
||
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|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
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|
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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=(neurodevelopmental%20disorder%20with%20language%20delay%20and%20seizures)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20seizures%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600687" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7074[geneid]" target="_blank">View TIAM1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=619908" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/neurodevelopmental_disorder_with_language_delay_and_seizures" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Neurodevelopmental%20disorder%20with%20language%20delay%20and%20seizures" target="_blank">MedlinePlus</a></li></ul></div>
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<h3>Reviews</h3>
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<li>
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<a href="/pubmed?term=Neurodevelopmental%20disorder%20with%20language%20delay%20and%20seizures%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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</li>
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<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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<h3>Related information</h3>
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||
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
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<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1805816" ref="log$=recordlinks">ClinVar</a>
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||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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||
</li>
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<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1805816" ref="log$=recordlinks">Gene</a>
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||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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||
</li>
|
||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1805816" ref="log$=recordlinks">OMIM</a>
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