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<meta name="keywords" content="C5543268, disease or syndrome, emc10, neddfas, neurodevelopmental disorder with dysmorphic facies and variable seizures, 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="EMC10-related neurodevelopmental disorder (EMC10-NDD) is characterized by moderate-to-severe developmental delay and mild-to-severe intellectual disability. Seizures, speech delay, poor weight gain, and growth deficiency are common in individuals with EMC10-NDD. Neurobehavioral manifestations, microcephaly, kidney and urinary tract abnormalities (nephrocalcinosis, renal cysts, and hydronephrosis), and upper limb anomalies (cubitus valgus, arachnodactyly, and bilateral fifth digit clinodactyly) have been reported in a few individuals." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1784197
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ConceptID=C5543268
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with dysmorphic facies and variable seizures<span class="h1sub">(NEDDFAS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784197</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:">C5543268</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>NEDDFAS</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="EMC10 - ID: 284361 - NCBI Gene" href="/gene/284361" class="medgenPMinfo">EMC10</a> (19q13.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0031011" target="_blank">MONDO:0031011</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619264" target="_blank">619264</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/NBK592645" target="_blank">EMC10-Related Neurodevelopmental Disorder</a></div><div>EMC10-related neurodevelopmental disorder (EMC10-NDD) is characterized by moderate-to-severe developmental delay and mild-to-severe intellectual disability. Seizures, speech delay, poor weight gain, and growth deficiency are common in individuals with EMC10-NDD. Neurobehavioral manifestations, microcephaly, kidney and urinary tract abnormalities (nephrocalcinosis, renal cysts, and hydronephrosis), and upper limb anomalies (cubitus valgus, arachnodactyly, and bilateral fifth digit clinodactyly) have been reported in a few individuals. [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/NBK592645#emc10-ndd.Summary" target="NBK592645">Summary</a> | <a class="medgenPMinfo" href="/books/NBK592645#emc10-ndd.Diagnosis" target="NBK592645">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK592645#emc10-ndd.Clinical_Characteristics" target="NBK592645">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK592645#emc10-ndd.Genetically_Related_Allelic_Di" target="NBK592645">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK592645#emc10-ndd.Differential_Diagnosis" target="NBK592645">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK592645#emc10-ndd.Management" target="NBK592645">Management</a> | <a class="medgenPMinfo" href="/books/NBK592645#emc10-ndd.Genetic_Counseling" target="NBK592645">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK592645#emc10-ndd.Resources" target="NBK592645">Resources</a> | <a class="medgenPMinfo" href="/books/NBK592645#emc10-ndd.Molecular_Genetics" target="NBK592645">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK592645#emc10-ndd.Chapter_Notes" target="NBK592645">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK592645#emc10-ndd.References" target="NBK592645">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Muhammad Umair | Majid Alfadhel <a href="/books/NBK592645" target="NBK592645" title="NCBI Bookshelf: EMC10-Related Neurodevelopmental Disorder">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</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 />Neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS) is an autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Patients have mildly impaired intellectual development, often with speech delay or behavioral abnormalities. Some may have seizures. Most have nonspecific dysmorphic facial features. Additional findings may include brain imaging abnormalities, mild skeletal defects, and renal abnormalities, although the renal anomalies may be unrelated (summary by Shao et al., 2021). <a target="_blank" href="http://www.omim.org/entry/619264">http://www.omim.org/entry/619264</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_1613"><div><strong>Anxiety</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003467</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1613">Feature record</a> | <a href="/medgen?term=%22Anxiety%22%5BClinical%20Features%5D%20OR%201613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3232"><div><strong>Febrile seizure (within the age range of 3 months to 6 years)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3232</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.">C0009952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3232">Feature record</a> | <a href="/medgen?term=%22Febrile%20seizure%20(within%20the%20age%20range%20of%203%20months%20to%206%20years)%22%5BClinical%20Features%5D%20OR%203232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</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.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52372"><div><strong>Sleep abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52372</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0037317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal pattern in the quality, quantity, or characteristics of sleep.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52372">Feature record</a> | <a href="/medgen?term=%22Sleep%20abnormality%22%5BClinical%20Features%5D%20OR%2052372%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65900"><div><strong>Diminished ability to concentrate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65900</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.">C0235198</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The inability to focus or concentrate on a specific task, activity, or object. The subject may find themselves unable to grasp or understand written text and re-reads frequently without understanding. Familiar tasks or activities are severely compromised due to the lack of ability to concentrate. Thinking through multi-step problems is typically very difficult or impossible, leading to avoidance of such activities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65900">Feature record</a> | <a href="/medgen?term=%22Diminished%20ability%20to%20concentrate%22%5BClinical%20Features%5D%20OR%2065900%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_853666"><div><strong>Tics</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853666</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.">C2169806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853666">Feature record</a> | <a href="/medgen?term=%22Tics%22%5BClinical%20Features%5D%20OR%20853666%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78562"><div><strong>Plagiocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78562</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.">C0265529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78562">Feature record</a> | <a href="/medgen?term=%22Plagiocephaly%22%5BClinical%20Features%5D%20OR%2078562%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11850"><div><strong>Dental crowding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11850</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.">C0040433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Changes in alignment of teeth in the dental arch</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11850">Feature record</a> | <a href="/medgen?term=%22Dental%20crowding%22%5BClinical%20Features%5D%20OR%2011850%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324383"><div><strong>Triangular face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324383</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.">C1835884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324383">Feature record</a> | <a href="/medgen?term=%22Triangular%20face%22%5BClinical%20Features%5D%20OR%20324383%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338610"><div><strong>Broad forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338610</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.">C1849089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338610">Feature record</a> | <a href="/medgen?term=%22Broad%20forehead%22%5BClinical%20Features%5D%20OR%20338610%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42461"><div><strong>Hirsutism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42461</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.">C0019572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42461">Feature record</a> | <a href="/medgen?term=%22Hirsutism%22%5BClinical%20Features%5D%20OR%2042461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98132"><div><strong>Synophrys</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98132</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.">C0431447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Meeting of the medial eyebrows in the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98132">Feature record</a> | <a href="/medgen?term=%22Synophrys%22%5BClinical%20Features%5D%20OR%2098132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5164"><div><strong>Fetal distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5164</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.">C0015930</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5164">Feature record</a> | <a href="/medgen?term=%22Fetal%20distress%22%5BClinical%20Features%5D%20OR%205164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%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_338610" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11850" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dental crowding</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triangular face</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal distress</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_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hirsutism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Synophrys</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_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Plagiocephaly</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_1613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anxiety</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_65900" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diminished ability to concentrate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Febrile seizure (within the age range of 3 months to 6 years)</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_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sleep abnormality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tics</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/36446582">Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Cayuelas E,
|
||
Blanco-Kelly F,
|
||
Lopez-Grondona F,
|
||
Swafiri ST,
|
||
Lopez-Rodriguez R,
|
||
Losada-Del Pozo R,
|
||
Mahillo-Fernandez I,
|
||
Moreno B,
|
||
Rodrigo-Moreno M,
|
||
Casas-Alba D,
|
||
Lopez-Gonzalez A,
|
||
García-Miñaúr S,
|
||
Ángeles Mori M,
|
||
Pacio-Minguez M,
|
||
Rikeros-Orozco E,
|
||
Santos-Simarro F,
|
||
Cruz-Rojo J,
|
||
Quesada-Espinosa JF,
|
||
Sanchez-Calvin MT,
|
||
Sanchez-Del Pozo J,
|
||
Bernado Fonz R,
|
||
Isidoro-Garcia M,
|
||
Ruiz-Ayucar I,
|
||
Alvarez-Mora MI,
|
||
Blanco-Lago R,
|
||
De Azua B,
|
||
Eiris J,
|
||
Garcia-Peñas JJ,
|
||
Gil-Fournier B,
|
||
Gomez-Lado C,
|
||
Irazabal N,
|
||
Lopez-Gonzalez V,
|
||
Madrigal I,
|
||
Malaga I,
|
||
Martinez-Menendez B,
|
||
Ramiro-Leon S,
|
||
Garcia-Hoyos M,
|
||
Prieto-Matos P,
|
||
Lopez-Pison J,
|
||
Aguilera-Albesa S,
|
||
Alvarez S,
|
||
Fernández-Jaén A,
|
||
Llano-Rivas I,
|
||
Gener-Querol B,
|
||
Ayuso C,
|
||
Arteche-Lopez A,
|
||
Palomares-Bralo M,
|
||
Cueto-González A,
|
||
Valenzuela I,
|
||
Martinez-Monseny A,
|
||
Lorda-Sanchez I,
|
||
Almoguera B</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Jul;60(7):644-654.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1136/jmg-2022-108632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36446582" target="_blank">36446582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33674768">Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faundes V,
|
||
Goh S,
|
||
Akilapa R,
|
||
Bezuidenhout H,
|
||
Bjornsson HT,
|
||
Bradley L,
|
||
Brady AF,
|
||
Brischoux-Boucher E,
|
||
Brunner H,
|
||
Bulk S,
|
||
Canham N,
|
||
Cody D,
|
||
Dentici ML,
|
||
Digilio MC,
|
||
Elmslie F,
|
||
Fry AE,
|
||
Gill H,
|
||
Hurst J,
|
||
Johnson D,
|
||
Julia S,
|
||
Lachlan K,
|
||
Lebel RR,
|
||
Byler M,
|
||
Gershon E,
|
||
Lemire E,
|
||
Gnazzo M,
|
||
Lepri FR,
|
||
Marchese A,
|
||
McEntagart M,
|
||
McGaughran J,
|
||
Mizuno S,
|
||
Okamoto N,
|
||
Rieubland C,
|
||
Rodgers J,
|
||
Sasaki E,
|
||
Scalais E,
|
||
Scurr I,
|
||
Suri M,
|
||
van der Burgt I,
|
||
Matsumoto N,
|
||
Miyake N,
|
||
Benoit V,
|
||
Lederer D,
|
||
Banka S</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Jul;23(7):1202-1210.
|
||
Epub 2021 Mar 5
|
||
doi: 10.1038/s41436-021-01119-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33674768" target="_blank">33674768</a><a href="/pmc/articles/PMC8257478" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25169058">Phenotype and genotype in Nicolaides-Baraitser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sousa SB,
|
||
Hennekam RC;
|
||
Nicolaides-Baraitser Syndrome International Consortium</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Sep;166C(3):302-14.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1002/ajmg.c.31409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25169058" target="_blank">25169058</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodevelopmental%20disorder%20with%20dysmorphic%20facies%20and%20variable%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 (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/36196002">Epilepsy in KBG syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auconi M,
|
||
Serino D,
|
||
Digilio MC,
|
||
Gnazzo M,
|
||
Conti M,
|
||
Vigevano F,
|
||
Fusco L</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2023 May;65(5):712-720.
|
||
Epub 2022 Oct 4
|
||
doi: 10.1111/dmcn.15428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36196002" target="_blank">36196002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29053855">Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niturad CE,
|
||
Lev D,
|
||
Kalscheuer VM,
|
||
Charzewska A,
|
||
Schubert J,
|
||
Lerman-Sagie T,
|
||
Kroes HY,
|
||
Oegema R,
|
||
Traverso M,
|
||
Specchio N,
|
||
Lassota M,
|
||
Chelly J,
|
||
Bennett-Back O,
|
||
Carmi N,
|
||
Koffler-Brill T,
|
||
Iacomino M,
|
||
Trivisano M,
|
||
Capovilla G,
|
||
Striano P,
|
||
Nawara M,
|
||
Rzonca S,
|
||
Fischer U,
|
||
Bienek M,
|
||
Jensen C,
|
||
Hu H,
|
||
Thiele H,
|
||
Altmüller J,
|
||
Krause R,
|
||
May P,
|
||
Becker F;
|
||
EuroEPINOMICS Consortium,
|
||
Balling R,
|
||
Biskup S,
|
||
Haas SA,
|
||
Nürnberg P,
|
||
van Gassen KLI,
|
||
Lerche H,
|
||
Zara F,
|
||
Maljevic S,
|
||
Leshinsky-Silver E</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2017 Nov 1;140(11):2879-2894.
|
||
doi: 10.1093/brain/awx236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29053855" target="_blank">29053855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27644018">Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wigby K,
|
||
D'Epagnier C,
|
||
Howell S,
|
||
Reicks A,
|
||
Wilson R,
|
||
Cordeiro L,
|
||
Tartaglia N</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Nov;170(11):2870-2881.
|
||
Epub 2016 Sep 19
|
||
doi: 10.1002/ajmg.a.37688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27644018" target="_blank">27644018</a><a href="/pmc/articles/PMC6501572" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27149079">Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pierpont EI,
|
||
Wolford M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Aug;170(8):1974-88.
|
||
Epub 2016 May 5
|
||
doi: 10.1002/ajmg.a.37725.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27149079" target="_blank">27149079</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25169058">Phenotype and genotype in Nicolaides-Baraitser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sousa SB,
|
||
Hennekam RC;
|
||
Nicolaides-Baraitser Syndrome International Consortium</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Sep;166C(3):302-14.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1002/ajmg.c.31409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25169058" target="_blank">25169058</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20dysmorphic%20facies%20and%20variable%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36446582">Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Cayuelas E,
|
||
Blanco-Kelly F,
|
||
Lopez-Grondona F,
|
||
Swafiri ST,
|
||
Lopez-Rodriguez R,
|
||
Losada-Del Pozo R,
|
||
Mahillo-Fernandez I,
|
||
Moreno B,
|
||
Rodrigo-Moreno M,
|
||
Casas-Alba D,
|
||
Lopez-Gonzalez A,
|
||
García-Miñaúr S,
|
||
Ángeles Mori M,
|
||
Pacio-Minguez M,
|
||
Rikeros-Orozco E,
|
||
Santos-Simarro F,
|
||
Cruz-Rojo J,
|
||
Quesada-Espinosa JF,
|
||
Sanchez-Calvin MT,
|
||
Sanchez-Del Pozo J,
|
||
Bernado Fonz R,
|
||
Isidoro-Garcia M,
|
||
Ruiz-Ayucar I,
|
||
Alvarez-Mora MI,
|
||
Blanco-Lago R,
|
||
De Azua B,
|
||
Eiris J,
|
||
Garcia-Peñas JJ,
|
||
Gil-Fournier B,
|
||
Gomez-Lado C,
|
||
Irazabal N,
|
||
Lopez-Gonzalez V,
|
||
Madrigal I,
|
||
Malaga I,
|
||
Martinez-Menendez B,
|
||
Ramiro-Leon S,
|
||
Garcia-Hoyos M,
|
||
Prieto-Matos P,
|
||
Lopez-Pison J,
|
||
Aguilera-Albesa S,
|
||
Alvarez S,
|
||
Fernández-Jaén A,
|
||
Llano-Rivas I,
|
||
Gener-Querol B,
|
||
Ayuso C,
|
||
Arteche-Lopez A,
|
||
Palomares-Bralo M,
|
||
Cueto-González A,
|
||
Valenzuela I,
|
||
Martinez-Monseny A,
|
||
Lorda-Sanchez I,
|
||
Almoguera B</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Jul;60(7):644-654.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1136/jmg-2022-108632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36446582" target="_blank">36446582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36196002">Epilepsy in KBG syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auconi M,
|
||
Serino D,
|
||
Digilio MC,
|
||
Gnazzo M,
|
||
Conti M,
|
||
Vigevano F,
|
||
Fusco L</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2023 May;65(5):712-720.
|
||
Epub 2022 Oct 4
|
||
doi: 10.1111/dmcn.15428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36196002" target="_blank">36196002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28733757">The clinico-radiological spectrum of Dyke-Davidoff-Masson syndrome in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ayas ZÖ,
|
||
Asil K,
|
||
Öcal R</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2017 Oct;38(10):1823-1828.
|
||
Epub 2017 Jul 21
|
||
doi: 10.1007/s10072-017-3074-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28733757" target="_blank">28733757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26686679">Sleep disturbance in Mowat-Wilson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans E,
|
||
Mowat D,
|
||
Wilson M,
|
||
Einfeld S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Mar;170(3):654-60.
|
||
Epub 2015 Dec 21
|
||
doi: 10.1002/ajmg.a.37502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26686679" target="_blank">26686679</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25169058">Phenotype and genotype in Nicolaides-Baraitser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sousa SB,
|
||
Hennekam RC;
|
||
Nicolaides-Baraitser Syndrome International Consortium</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Sep;166C(3):302-14.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1002/ajmg.c.31409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25169058" target="_blank">25169058</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20dysmorphic%20facies%20and%20variable%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 (16)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23322667">Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cordelli DM,
|
||
Garavelli L,
|
||
Savasta S,
|
||
Guerra A,
|
||
Pellicciari A,
|
||
Giordano L,
|
||
Bonetti S,
|
||
Cecconi I,
|
||
Wischmeijer A,
|
||
Seri M,
|
||
Rosato S,
|
||
Gelmini C,
|
||
Della Giustina E,
|
||
Ferrari AR,
|
||
Zanotta N,
|
||
Epifanio R,
|
||
Grioni D,
|
||
Malbora B,
|
||
Mammi I,
|
||
Mari F,
|
||
Buoni S,
|
||
Mostardini R,
|
||
Grosso S,
|
||
Pantaleoni C,
|
||
Doz M,
|
||
Poch-Olivé ML,
|
||
Rivieri F,
|
||
Sorge G,
|
||
Simonte G,
|
||
Licata F,
|
||
Tarani L,
|
||
Terazzi E,
|
||
Mazzanti L,
|
||
Cerruti Mainardi P,
|
||
Boni A,
|
||
Faravelli F,
|
||
Grasso M,
|
||
Bianchi P,
|
||
Zollino M,
|
||
Franzoni E</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2013 Feb;161A(2):273-84.
|
||
Epub 2013 Jan 15
|
||
doi: 10.1002/ajmg.a.35717.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23322667" target="_blank">23322667</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/186565">The tuberous sclerosis syndrome: clinical and EEG studies in 100 children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pampiglione G,
|
||
Moynahan EJ</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1976 Jul;39(7):666-73.
|
||
doi: 10.1136/jnnp.39.7.666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/186565" target="_blank">186565</a><a href="/pmc/articles/PMC492399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20dysmorphic%20facies%20and%20variable%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38958169">Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erdal İ,
|
||
Yıldız Y,
|
||
Kuseyri Hübschmann O,
|
||
Haas D,
|
||
Günbey C,
|
||
Ertuğrul İ,
|
||
Yalnızoğlu D</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2024 Aug 27;37(8):741-744.
|
||
Epub 2024 Jul 4
|
||
doi: 10.1515/jpem-2023-0518.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38958169" target="_blank">38958169</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38740982">FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pan X,
|
||
Liu L,
|
||
Zhang X,
|
||
Tang X,
|
||
Qian G,
|
||
Qiu H,
|
||
Lin S,
|
||
Yao H,
|
||
Dong X,
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Tan B</span><br />
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|
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2024 Aug;69(8):391-400.
|
||
Epub 2024 May 13
|
||
doi: 10.1038/s10038-024-01255-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38740982" target="_blank">38740982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35430327">Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cingöz S,
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Soydemir D,
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Öner TÖ,
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Karaca E,
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Özden B,
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Kurul SH,
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Bayram E;
|
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University of Washington Center for Mendelian Genomics,
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Coe BP,
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Nickerson DA,
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Eichler EE</span><br />
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2022 Jun;65(6):104497.
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Epub 2022 Apr 14
|
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doi: 10.1016/j.ejmg.2022.104497.
|
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<span class="bold">PMID: </span><a href="/pubmed/35430327" target="_blank">35430327</a><a href="/pmc/articles/PMC9448893" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27900361">KBG syndrome involving a single-nucleotide duplication in ANKRD11.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kleyner R,
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Malcolmson J,
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2016 Nov;2(6):a001131.
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doi: 10.1101/mcs.a001131.
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<span class="bold">PMID: </span><a href="/pubmed/27900361" target="_blank">27900361</a><a href="/pmc/articles/PMC5111005" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/23322667">Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cordelli DM,
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Garavelli L,
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Savasta S,
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Guerra A,
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Mammi I,
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Pantaleoni C,
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Doz M,
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Poch-Olivé ML,
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Rivieri F,
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Sorge G,
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Simonte G,
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Licata F,
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Tarani L,
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Terazzi E,
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Mazzanti L,
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2013 Feb;161A(2):273-84.
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Epub 2013 Jan 15
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<span class="bold">PMID: </span><a href="/pubmed/23322667" target="_blank">23322667</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20dysmorphic%20facies%20and%20variable%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38740982">FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pan X,
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Liu L,
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Zhang X,
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Tang X,
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Qian G,
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Qiu H,
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Lin S,
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Yao H,
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Dong X,
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Tan B</span><br />
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<span class="medgenPMjournal">J Hum Genet</span>
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||
2024 Aug;69(8):391-400.
|
||
Epub 2024 May 13
|
||
doi: 10.1038/s10038-024-01255-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38740982" target="_blank">38740982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36446582">Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Cayuelas E,
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Blanco-Kelly F,
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Lopez-Grondona F,
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Swafiri ST,
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Lopez-Rodriguez R,
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Losada-Del Pozo R,
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Mahillo-Fernandez I,
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Moreno B,
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Rodrigo-Moreno M,
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Casas-Alba D,
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Lopez-Gonzalez A,
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García-Miñaúr S,
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Ángeles Mori M,
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Pacio-Minguez M,
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Rikeros-Orozco E,
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Santos-Simarro F,
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Cruz-Rojo J,
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Quesada-Espinosa JF,
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Sanchez-Calvin MT,
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Sanchez-Del Pozo J,
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Bernado Fonz R,
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Isidoro-Garcia M,
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Ruiz-Ayucar I,
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Alvarez-Mora MI,
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Blanco-Lago R,
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De Azua B,
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Eiris J,
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Garcia-Peñas JJ,
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Gil-Fournier B,
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Gomez-Lado C,
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Irazabal N,
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Lopez-Gonzalez V,
|
||
Madrigal I,
|
||
Malaga I,
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||
Martinez-Menendez B,
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Ramiro-Leon S,
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||
Garcia-Hoyos M,
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Prieto-Matos P,
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||
Lopez-Pison J,
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Aguilera-Albesa S,
|
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Alvarez S,
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Fernández-Jaén A,
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||
Llano-Rivas I,
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Gener-Querol B,
|
||
Ayuso C,
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Arteche-Lopez A,
|
||
Palomares-Bralo M,
|
||
Cueto-González A,
|
||
Valenzuela I,
|
||
Martinez-Monseny A,
|
||
Lorda-Sanchez I,
|
||
Almoguera B</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Jul;60(7):644-654.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1136/jmg-2022-108632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36446582" target="_blank">36446582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36216271">STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gokce-Samar Z,
|
||
de Bellescize J,
|
||
Arzimanoglou A,
|
||
Putoux A,
|
||
Chatron N,
|
||
Lesca G,
|
||
Portes VD</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Dec;65(12):104636.
|
||
Epub 2022 Oct 7
|
||
doi: 10.1016/j.ejmg.2022.104636.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36216271" target="_blank">36216271</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27900361">KBG syndrome involving a single-nucleotide duplication in ANKRD11.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kleyner R,
|
||
Malcolmson J,
|
||
Tegay D,
|
||
Ward K,
|
||
Maughan A,
|
||
Maughan G,
|
||
Nelson L,
|
||
Wang K,
|
||
Robison R,
|
||
Lyon GJ</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2016 Nov;2(6):a001131.
|
||
doi: 10.1101/mcs.a001131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27900361" target="_blank">27900361</a><a href="/pmc/articles/PMC5111005" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26686679">Sleep disturbance in Mowat-Wilson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans E,
|
||
Mowat D,
|
||
Wilson M,
|
||
Einfeld S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Mar;170(3):654-60.
|
||
Epub 2015 Dec 21
|
||
doi: 10.1002/ajmg.a.37502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26686679" target="_blank">26686679</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20dysmorphic%20facies%20and%20variable%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 (13)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5543268%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C5543268%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C5543268%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5543268%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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