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<meta name="keywords" content="C1836806, congenital abnormality, microcephaly, mild, mild microcephaly, 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="Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD &lt;= OFC &lt; -2 SD)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Mild microcephaly (Concept Id: C1836806)
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<!--
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-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mild microcephaly</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332294</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)&#10;Click for more information."><span class="highlight" style="background-color:">C1836806</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Microcephaly, mild</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0040196">HP:0040196</a></td></tr>
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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">Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD &lt;= OFC &lt; -2 SD). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Mild microcephaly</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488801" ref="tree=MeSH" title="MedGen record for Abnormal skull morphology">Abnormal skull morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871378" ref="tree=MeSH" title="MedGen record for Abnormality of skull size">Abnormality of skull size</a></span><ul><li><span class="TLline"><a href="/medgen/473122" ref="tree=MeSH" title="MedGen record for Decreased head circumference">Decreased head circumference</a></span><ul><li><span class="matched_ds">Mild microcephaly</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_374113"><div><strong>Striatonigral degeneration, infantile, mitochondrial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374113</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)&#10;Click for more information.">C1839022</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/374113">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343844"><div><strong>Arthrogryposis, distal, type 2E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343844</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)&#10;Click for more information.">C1852597</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343844">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_442564"><div><strong>Intellectual disability, autosomal recessive 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442564</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)&#10;Click for more information.">C2750791</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/442564">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863738"><div><strong>Autosomal recessive spinocerebellar ataxia 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863738</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)&#10;Click for more information.">C4015301</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-17 (SCAR17) is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variably impaired intellectual development (summary by Evers et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863738">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863753"><div><strong>Developmental and epileptic encephalopathy, 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863753</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)&#10;Click for more information.">C4015316</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">GRIN2B-related neurodevelopmental disorder is characterized by mild to profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Muscle tone abnormalities (spasticity and/or hypotonia, occasionally associated with feeding difficulties), as well as epilepsy and autism spectrum disorder (ASD) / behavioral issues, are common. Other infantile- or childhood-onset findings include microcephaly; dystonic, dyskinetic, or choreiform movement disorder; and/or cortical visual impairment. Brain MRI reveals a malformation of cortical development in a minority of affected individuals. To date, fewer than 100 individuals with GRIN2B-related neurodevelopmental disorder have been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863753">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684686"><div><strong>Catifa syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684686</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)&#10;Click for more information.">C5231492</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CATIFA syndrome is characterized by global developmental delay and impaired intellectual development ranging from mild to severe, with most patients exhibiting attention-deficit hyperactivity disorder (ADHD). Patients show an elongated face with long philtrum and small ears. Ocular anomalies include congenital cataracts, strabismus, and amblyopia, which may be associated with reduced vision; other anomalies include cleft lip and/or palate and misaligned teeth with extensive caries (Unlu et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684686">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1719546"><div><strong>Lissencephaly 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1719546</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)&#10;Click for more information.">C5394354</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Lissencephaly-10 (LIS10) is a neurologic disorder characterized by variably delayed development with mildly to moderately impaired intellectual development and language delay, as well as seizures, which are often intractable. There is a spectrum of severity, with some patients having normal early development and only borderline to mild cognitive impairment. Brain imaging shows features consistent with neuronal migration defects, including posterior-predominant lissencephaly, pachygyria, agyria, and subcortical band heterotopia (summary by Tsai et al., 2020).&#13; For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1719546">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1712866"><div><strong>Silver-russell syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1712866</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)&#10;Click for more information.">C5394450</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Silver-Russell Syndrome (SRS) is typically characterized by gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference =1.5 standard deviations [SD] above birth weight and/or length), prominent forehead with frontal bossing, and frequently body asymmetry. This is typically followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, growth failure is proportionate and head growth typically normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings and in whom other disorders have been ruled out.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1712866">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, distal, type 2E</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive spinocerebellar ataxia 17</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Catifa syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 27</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442564" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal recessive 13</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1719546" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly 10</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1712866" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Silver-russell syndrome 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374113" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Striatonigral degeneration, infantile, mitochondrial</a></div></div>
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<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/21505449">Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mitter D,
Ullmann R,
Muradyan A,
Klein-Hitpass L,
Kanber D,
Ounap K,
Kaulisch M,
Lohmann D</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2011 Sep;19(9):947-58.
Epub 2011 Apr 20
doi: 10.1038/ejhg.2011.58.
<span class="bold">PMID: </span><a href="/pubmed/21505449" target="_blank">21505449</a><a href="/pmc/articles/PMC3179359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mild%20microcephaly%22%5Btiab%3A~0%5D)%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 (1)</a></div></div>
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<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/32844907">Congenital Zika syndrome: association between the gestational trimester of maternal infection, severity of brain computed tomography findings and microcephaly at birth.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mendes AKT,
Ribeiro MRC,
Lamy-Filho F,
Amaral GA,
Borges MCR,
Costa LC,
Cavalcante TB,
Batista RFL,
Sousa PDS,
Silva AAMD</span><br />
<span class="medgenPMjournal">Rev Inst Med Trop Sao Paulo</span>
2020;62:e56.
Epub 2020 Aug 21
doi: 10.1590/s1678-9946202062056.
<span class="bold">PMID: </span><a href="/pubmed/32844907" target="_blank">32844907</a><a href="/pmc/articles/PMC7447234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27491635">Associated ultrasonographic findings in fetuses with microcephaly because of suspected Zika virus (ZIKV) infection during pregnancy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Carvalho FH,
Cordeiro KM,
Peixoto AB,
Tonni G,
Moron AF,
Feitosa FE,
Feitosa HN,
Araujo Júnior E</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
2016 Sep;36(9):882-7.
Epub 2016 Aug 23
doi: 10.1002/pd.4882.
<span class="bold">PMID: </span><a href="/pubmed/27491635" target="_blank">27491635</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26364901">Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gossai N,
Biegel JA,
Messiaen L,
Berry SA,
Moertel CL</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2015 Dec;167A(12):3186-91.
Epub 2015 Sep 14
doi: 10.1002/ajmg.a.37356.
<span class="bold">PMID: </span><a href="/pubmed/26364901" target="_blank">26364901</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15663580">Pre- and periconceptional primary cytomegalovirus infection: risk of vertical transmission and congenital disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Daiminger A,
Bäder U,
Enders G</span><br />
<span class="medgenPMjournal">BJOG</span>
2005 Feb;112(2):166-72.
doi: 10.1111/j.1471-0528.2004.00328.x.
<span class="bold">PMID: </span><a href="/pubmed/15663580" target="_blank">15663580</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2165585">D(+)-glyceric aciduria: etiology and clinical consequences.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bonham JR,
Stephenson TJ,
Carpenter KH,
Rattenbury JM,
Cromby CH,
Pollitt RJ,
Hull D</span><br />
<span class="medgenPMjournal">Pediatr Res</span>
1990 Jul;28(1):38-41.
doi: 10.1203/00006450-199007000-00009.
<span class="bold">PMID: </span><a href="/pubmed/2165585" target="_blank">2165585</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20microcephaly%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38113221">Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pekpak Sahinoglu E,
Oren AC,
Sahinoglu B,
Gumus U,
Akbayram S</span><br />
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
2024 Mar 1;46(2):e199-e201.
Epub 2023 Dec 18
doi: 10.1097/MPH.0000000000002798.
<span class="bold">PMID: </span><a href="/pubmed/38113221" target="_blank">38113221</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30238602">Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Accogli A,
Scala M,
Calcagno A,
Castello R,
Torella A,
Musacchia F,
Allegri AME,
Mancardi MM,
Maghnie M,
Severino M;
Telethon Undiagnosed Diseases Program,
Nigro V,
Capra V</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2018 Dec;176(12):2835-2840.
Epub 2018 Sep 20
doi: 10.1002/ajmg.a.40534.
<span class="bold">PMID: </span><a href="/pubmed/30238602" target="_blank">30238602</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28119487">STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lehalle D,
Mosca-Boidron AL,
Begtrup A,
Boute-Benejean O,
Charles P,
Cho MT,
Clarkson A,
Devinsky O,
Duffourd Y,
Duplomb-Jego L,
Gérard B,
Jacquette A,
Kuentz P,
Masurel-Paulet A,
McDougall C,
Moutton S,
Olivié H,
Park SM,
Rauch A,
Revencu N,
Rivière JB,
Rubin K,
Simonic I,
Shears DJ,
Smol T,
Taylor Tavares AL,
Terhal P,
Thevenon J,
Van Gassen K,
Vincent-Delorme C,
Willemsen MH,
Wilson GN,
Zackai E,
Zweier C,
Callier P,
Thauvin-Robinet C,
Faivre L</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2017 Jul;54(7):479-488.
Epub 2017 Jan 24
doi: 10.1136/jmedgenet-2016-104468.
<span class="bold">PMID: </span><a href="/pubmed/28119487" target="_blank">28119487</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27491635">Associated ultrasonographic findings in fetuses with microcephaly because of suspected Zika virus (ZIKV) infection during pregnancy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Carvalho FH,
Cordeiro KM,
Peixoto AB,
Tonni G,
Moron AF,
Feitosa FE,
Feitosa HN,
Araujo Júnior E</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
2016 Sep;36(9):882-7.
Epub 2016 Aug 23
doi: 10.1002/pd.4882.
<span class="bold">PMID: </span><a href="/pubmed/27491635" target="_blank">27491635</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27410998">Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Haye D,
Dridi H,
Levy J,
Lambert V,
Lambert M,
Agha M,
Adjimi F,
Kohlhase J,
Lipsker D,
Verloes A</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2016 Oct;170(10):2750-5.
Epub 2016 Jul 13
doi: 10.1002/ajmg.a.37825.
<span class="bold">PMID: </span><a href="/pubmed/27410998" target="_blank">27410998</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20microcephaly%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 (15)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/19441125">Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Anderka MT,
Lin AE,
Abuelo DN,
Mitchell AA,
Rasmussen SA</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2009 Jun;149A(6):1241-8.
doi: 10.1002/ajmg.a.32685.
<span class="bold">PMID: </span><a href="/pubmed/19441125" target="_blank">19441125</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2165585">D(+)-glyceric aciduria: etiology and clinical consequences.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bonham JR,
Stephenson TJ,
Carpenter KH,
Rattenbury JM,
Cromby CH,
Pollitt RJ,
Hull D</span><br />
<span class="medgenPMjournal">Pediatr Res</span>
1990 Jul;28(1):38-41.
doi: 10.1203/00006450-199007000-00009.
<span class="bold">PMID: </span><a href="/pubmed/2165585" target="_blank">2165585</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20microcephaly%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/37437665">Allogeneic hematopoietic stem cell transplantation corrects ligase IV deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">He J,
Tian X,
Luo T,
Zou R,
Yin Z,
Chen K,
Zhu C,
He X</span><br />
<span class="medgenPMjournal">Transpl Immunol</span>
2023 Oct;80:101897.
Epub 2023 Jul 10
doi: 10.1016/j.trim.2023.101897.
<span class="bold">PMID: </span><a href="/pubmed/37437665" target="_blank">37437665</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31710135">Zika virus infection: A correlation between prenatal ultrasonographic and postmortem neuropathologic changes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gutiérrez Sánchez LA,
Sandoval Martínez DK,
Díaz-Martínez LA,
Becerra Mojica CH</span><br />
<span class="medgenPMjournal">Neuropathology</span>
2019 Dec;39(6):434-440.
Epub 2019 Nov 11
doi: 10.1111/neup.12603.
<span class="bold">PMID: </span><a href="/pubmed/31710135" target="_blank">31710135</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29648665">Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El-Saafin F,
Curry C,
Ye T,
Garnier JM,
Kolb-Cheynel I,
Stierle M,
Downer NL,
Dixon MP,
Negroni L,
Berger I,
Thomas T,
Voss AK,
Dobyns W,
Devys D,
Tora L</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
2018 Jun 15;27(12):2171-2186.
doi: 10.1093/hmg/ddy126.
<span class="bold">PMID: </span><a href="/pubmed/29648665" target="_blank">29648665</a><a href="/pmc/articles/PMC5985725" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19441125">Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Anderka MT,
Lin AE,
Abuelo DN,
Mitchell AA,
Rasmussen SA</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2009 Jun;149A(6):1241-8.
doi: 10.1002/ajmg.a.32685.
<span class="bold">PMID: </span><a href="/pubmed/19441125" target="_blank">19441125</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18046072">Prenatal diagnosis of abnormal course of umbilical vein and absent ductus venosus--report of three cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hajdú J,
Marton T,
Kozsurek M,
Pete B,
Csapó Z,
Beke A,
Papp Z</span><br />
<span class="medgenPMjournal">Fetal Diagn Ther</span>
2008;23(2):136-9.
Epub 2007 Nov 26
doi: 10.1159/000111594.
<span class="bold">PMID: </span><a href="/pubmed/18046072" target="_blank">18046072</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20microcephaly%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/32844907">Congenital Zika syndrome: association between the gestational trimester of maternal infection, severity of brain computed tomography findings and microcephaly at birth.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mendes AKT,
Ribeiro MRC,
Lamy-Filho F,
Amaral GA,
Borges MCR,
Costa LC,
Cavalcante TB,
Batista RFL,
Sousa PDS,
Silva AAMD</span><br />
<span class="medgenPMjournal">Rev Inst Med Trop Sao Paulo</span>
2020;62:e56.
Epub 2020 Aug 21
doi: 10.1590/s1678-9946202062056.
<span class="bold">PMID: </span><a href="/pubmed/32844907" target="_blank">32844907</a><a href="/pmc/articles/PMC7447234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29648665">Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El-Saafin F,
Curry C,
Ye T,
Garnier JM,
Kolb-Cheynel I,
Stierle M,
Downer NL,
Dixon MP,
Negroni L,
Berger I,
Thomas T,
Voss AK,
Dobyns W,
Devys D,
Tora L</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
2018 Jun 15;27(12):2171-2186.
doi: 10.1093/hmg/ddy126.
<span class="bold">PMID: </span><a href="/pubmed/29648665" target="_blank">29648665</a><a href="/pmc/articles/PMC5985725" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27410998">Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Haye D,
Dridi H,
Levy J,
Lambert V,
Lambert M,
Agha M,
Adjimi F,
Kohlhase J,
Lipsker D,
Verloes A</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2016 Oct;170(10):2750-5.
Epub 2016 Jul 13
doi: 10.1002/ajmg.a.37825.
<span class="bold">PMID: </span><a href="/pubmed/27410998" target="_blank">27410998</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19546099">A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar RA,
Sudi J,
Babatz TD,
Brune CW,
Oswald D,
Yen M,
Nowak NJ,
Cook EH,
Christian SL,
Dobyns WB</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2010 Feb;47(2):81-90.
Epub 2009 Jun 21
doi: 10.1136/jmg.2008.065821.
<span class="bold">PMID: </span><a href="/pubmed/19546099" target="_blank">19546099</a><a href="/pmc/articles/PMC2921284" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9450856">Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Flejter WL,
Issa B,
Sullivan BA,
Carey JC,
Brothman AR</span><br />
<span class="medgenPMjournal">Am J Med Genet</span>
1998 Jan 6;75(1):45-51.
<span class="bold">PMID: </span><a href="/pubmed/9450856" target="_blank">9450856</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20microcephaly%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 (6)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mild%20microcephaly%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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