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<meta name="keywords" content="C5882698, devdfb, developmental delay, dysmorphic facies, and brain anomalies, disease or syndrome, u2af2, 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="Developmental delay, dysmorphic facies, and brain anomalies (DEVDFB) is characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference. Most affected individuals have early-onset seizures that are variable in severity. Brain imaging typically shows hypoplasia of the corpus callosum and/or delayed myelination (Hiraide et al., 2021; Kuroda et al., 2023)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1847857
|
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ConceptID=C5882698
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental delay, dysmorphic facies, and brain anomalies<span class="h1sub">(DEVDFB)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847857</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:">C5882698</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>DEVDFB; DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES</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="U2AF2 - ID: 11338 - NCBI Gene" href="/gene/11338" class="medgenPMinfo">U2AF2</a> (19q13.42)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0957810" target="_blank">MONDO:0957810</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620535" target="_blank">620535</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Developmental delay, dysmorphic facies, and brain anomalies (DEVDFB) is characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference. Most affected individuals have early-onset seizures that are variable in severity. Brain imaging typically shows hypoplasia of the corpus callosum and/or delayed myelination (Hiraide et al., 2021; Kuroda et al., 2023). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_42034"><div><strong>Pes planus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42034</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.">C0016202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42034">Feature record</a> | <a href="/medgen?term=%22Pes%20planus%22%5BClinical%20Features%5D%20OR%2042034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96108"><div><strong>Single transverse palmar crease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96108</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.">C0424731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96108">Feature record</a> | <a href="/medgen?term=%22Single%20transverse%20palmar%20crease%22%5BClinical%20Features%5D%20OR%2096108%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57535"><div><strong>Microtia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57535</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.">C0152423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the external ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57535">Feature record</a> | <a href="/medgen?term=%22Microtia%22%5BClinical%20Features%5D%20OR%2057535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3420"><div><strong>Chorea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3420</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.">C0008489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3420">Feature record</a> | <a href="/medgen?term=%22Chorea%22%5BClinical%20Features%5D%20OR%203420%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_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</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.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322973"><div><strong>Lower limb hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322973</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.">C1836696</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased intensity of the a reflex in the leg.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322973">Feature record</a> | <a href="/medgen?term=%22Lower%20limb%20hyperreflexia%22%5BClinical%20Features%5D%20OR%20322973%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867393"><div><strong>Delayed CNS myelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867393</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.">C4021758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed myelination in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867393">Feature record</a> | <a href="/medgen?term=%22Delayed%20CNS%20myelination%22%5BClinical%20Features%5D%20OR%20867393%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19766"><div><strong>Retrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19766</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.">C0035353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the mandible is mislocalised posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19766">Feature record</a> | <a href="/medgen?term=%22Retrognathia%22%5BClinical%20Features%5D%20OR%2019766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98316"><div><strong>Mandibular prognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98316</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.">C0399526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal prominence of the chin related to increased length of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98316">Feature record</a> | <a href="/medgen?term=%22Mandibular%20prognathia%22%5BClinical%20Features%5D%20OR%2098316%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98390"><div><strong>Upslanted palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98390</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.">C0423109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98390">Feature record</a> | <a href="/medgen?term=%22Upslanted%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%2098390%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_374311"><div><strong>Deep philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374311</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.">C1839797</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374311">Feature record</a> | <a href="/medgen?term=%22Deep%20philtrum%22%5BClinical%20Features%5D%20OR%20374311%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377914"><div><strong>Thick eyebrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377914</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.">C1853487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased density/number and/or increased diameter of eyebrow hairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377914">Feature record</a> | <a href="/medgen?term=%22Thick%20eyebrow%22%5BClinical%20Features%5D%20OR%20377914%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</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.">C0005745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4613"><div><strong>Exotropia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4613</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.">C0015310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of strabismus with one or both eyes deviated outward.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4613">Feature record</a> | <a href="/medgen?term=%22Exotropia%22%5BClinical%20Features%5D%20OR%204613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75749"><div><strong>Vertical nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75749</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.">C0271386</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75749">Feature record</a> | <a href="/medgen?term=%22Vertical%20nystagmus%22%5BClinical%20Features%5D%20OR%2075749%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_374311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deep philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular prognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick eyebrow</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upslanted palpebral fissure</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes planus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Single transverse palmar crease</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_4613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exotropia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75749" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertical nystagmus</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retrognathia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed CNS myelination</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_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower limb hyperreflexia</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microtia</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/37580113">Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szakszon K,
|
||
Lourenco CM,
|
||
Callewaert BL,
|
||
Geneviève D,
|
||
Rouxel F,
|
||
Morin D,
|
||
Denommé-Pichon AS,
|
||
Vitobello A,
|
||
Patterson WG,
|
||
Louie R,
|
||
Pinto E Vairo F,
|
||
Klee E,
|
||
Kaiwar C,
|
||
Gavrilova RH,
|
||
Agre KE,
|
||
Jacquemont S,
|
||
Khadijé J,
|
||
Giltay J,
|
||
van Gassen K,
|
||
Merő G,
|
||
Gerkes E,
|
||
Van Bon BW,
|
||
Rinne T,
|
||
Pfundt R,
|
||
Brunner HG,
|
||
Caluseriu O,
|
||
Grasshoff U,
|
||
Kehrer M,
|
||
Haack TB,
|
||
Khelifa MM,
|
||
Bergmann AK,
|
||
Cueto-González AM,
|
||
Martorell AC,
|
||
Ramachandrappa S,
|
||
Sawyer LB,
|
||
Fasel P,
|
||
Braun D,
|
||
Isis A,
|
||
Superti-Furga A,
|
||
McNiven V,
|
||
Chitayat D,
|
||
Ahmed SA,
|
||
Brennenstuhl H,
|
||
Schwaibolf EM,
|
||
Battisti G,
|
||
Parmentier B,
|
||
Stevens SJC</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2024 Jan 19;61(2):132-141.
|
||
doi: 10.1136/jmg-2022-109030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37580113" target="_blank">37580113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34386909">Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muhsin E,
|
||
Basak G,
|
||
Banu D,
|
||
Alper G,
|
||
Mustafa S</span><br />
|
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<span class="medgenPMjournal">J Mol Neurosci</span>
|
||
2022 Jan;72(1):149-157.
|
||
Epub 2021 Aug 12
|
||
doi: 10.1007/s12031-021-01897-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34386909" target="_blank">34386909</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29861108">De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reijnders MRF,
|
||
Miller KA,
|
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Alvi M,
|
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Goos JAC,
|
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Lees MM,
|
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de Burca A,
|
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Henderson A,
|
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Kraus A,
|
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Mikat B,
|
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de Vries BBA,
|
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Isidor B,
|
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Kerr B,
|
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Marcelis C,
|
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Schluth-Bolard C,
|
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Deshpande C,
|
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Ruivenkamp CAL,
|
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Wieczorek D;
|
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Deciphering Developmental Disorders Study,
|
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Baralle D,
|
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Blair EM,
|
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Engels H,
|
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Lüdecke HJ,
|
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Eason J,
|
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Santen GWE,
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Clayton-Smith J,
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Chandler K,
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Tatton-Brown K,
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Payne K,
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Helbig K,
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Radtke K,
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Nugent KM,
|
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Cremer K,
|
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Strom TM,
|
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Bird LM,
|
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Sinnema M,
|
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Bitner-Glindzicz M,
|
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van Dooren MF,
|
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Alders M,
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Koopmans M,
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Brick L,
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Kozenko M,
|
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Harline ML,
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Klaassens M,
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Steinraths M,
|
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Cooper NS,
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Edery P,
|
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Yap P,
|
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Terhal PA,
|
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van der Spek PJ,
|
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Lakeman P,
|
||
Taylor RL,
|
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Littlejohn RO,
|
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Pfundt R,
|
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Mercimek-Andrews S,
|
||
Stegmann APA,
|
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Kant SG,
|
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McLean S,
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Joss S,
|
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Swagemakers SMA,
|
||
Douzgou S,
|
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Wall SA,
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Küry S,
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Calpena E,
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Koelling N,
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McGowan SJ,
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Twigg SRF,
|
||
Mathijssen IMJ,
|
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Nellaker C,
|
||
Brunner HG,
|
||
Wilkie AOM</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2018 Jun 7;102(6):1195-1203.
|
||
Epub 2018 May 31
|
||
doi: 10.1016/j.ajhg.2018.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29861108" target="_blank">29861108</a><a href="/pmc/articles/PMC5992133" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20delay%2C%20dysmorphic%20facies%2C%20and%20brain%20anomalies)%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 (7)</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/39355979">Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Sluijs PJ,
|
||
Moutton S,
|
||
Dingemans AJM,
|
||
Weis D,
|
||
Levy MA,
|
||
Boycott KM,
|
||
Arberas C,
|
||
Baldassarri M,
|
||
Beneteau C,
|
||
Brusco A,
|
||
Coutton C,
|
||
Dabir T,
|
||
Dentici ML,
|
||
Devriendt K,
|
||
Faivre L,
|
||
van Haelst MM,
|
||
Jizi K,
|
||
Kempers MJ,
|
||
Kerkhof J,
|
||
Kharbanda M,
|
||
Lachlan K,
|
||
Marle N,
|
||
McConkey H,
|
||
Mencarelli MA,
|
||
Mowat D,
|
||
Niceta M,
|
||
Nicolas C,
|
||
Novelli A,
|
||
Orlando V,
|
||
Pichon O,
|
||
Rankin J,
|
||
Relator R,
|
||
Ropers FG,
|
||
Rosenfeld JA,
|
||
Sachdev R,
|
||
Sandaradura SA,
|
||
Shukarova-Angelovska E,
|
||
Steenbeek D,
|
||
Tartaglia M,
|
||
Tedder MA,
|
||
Trajkova S,
|
||
Winer N,
|
||
Woods J,
|
||
de Vries BBA,
|
||
Sadikovic B,
|
||
Alders M,
|
||
Santen GWE</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2025 Jan;27(1):101283.
|
||
Epub 2024 Sep 28
|
||
doi: 10.1016/j.gim.2024.101283.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39355979" target="_blank">39355979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34863918">Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Boer E,
|
||
Yaldiz B,
|
||
Denommé-Pichon AS,
|
||
Matalonga L,
|
||
Laurie S;
|
||
Solve-RD SNV-indel working group;
|
||
Solve-RD-DITF-ITHACA</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Jan;65(1):104402.
|
||
Epub 2021 Dec 1
|
||
doi: 10.1016/j.ejmg.2021.104402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34863918" target="_blank">34863918</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32452540">Lessons learned from 40 novel PIGA patients and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bayat A,
|
||
Knaus A,
|
||
Pendziwiat M,
|
||
Afenjar A,
|
||
Barakat TS,
|
||
Bosch F,
|
||
Callewaert B,
|
||
Calvas P,
|
||
Ceulemans B,
|
||
Chassaing N,
|
||
Depienne C,
|
||
Endziniene M,
|
||
Ferreira CR,
|
||
Moura de Souza CF,
|
||
Freihuber C,
|
||
Ganesan S,
|
||
Gataullina S,
|
||
Guerrini R,
|
||
Guerrot AM,
|
||
Hansen L,
|
||
Jezela-Stanek A,
|
||
Karsenty C,
|
||
Kievit A,
|
||
Kooy FR,
|
||
Korff CM,
|
||
Kragh Hansen J,
|
||
Larsen M,
|
||
Layet V,
|
||
Lesca G,
|
||
McBride KL,
|
||
Meuwissen M,
|
||
Mignot C,
|
||
Montomoli M,
|
||
Moore H,
|
||
Naudion S,
|
||
Nava C,
|
||
Nougues MC,
|
||
Parrini E,
|
||
Pastore M,
|
||
Schelhaas JH,
|
||
Skinner S,
|
||
Szczałuba K,
|
||
Thomas A,
|
||
Thomassen M,
|
||
Tranebjaerg L,
|
||
van Slegtenhorst M,
|
||
Wolfe LA,
|
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Lal D,
|
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Gardella E,
|
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Bomme Ousager L,
|
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Brünger T,
|
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Helbig I,
|
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Krawitz P,
|
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Møller RS</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 Jun;61(6):1142-1155.
|
||
Epub 2020 May 26
|
||
doi: 10.1111/epi.16545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32452540" target="_blank">32452540</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20687508">Cerebro-oculo-facio-skeletal syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suzumura H,
|
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Arisaka O</span><br />
|
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<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
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2010;685:210-4.
|
||
doi: 10.1007/978-1-4419-6448-9_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20687508" target="_blank">20687508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16939648">Congenital cataracts-facial dysmorphism-neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalaydjieva L</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Aug 29;1:32.
|
||
doi: 10.1186/1750-1172-1-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16939648" target="_blank">16939648</a><a href="/pmc/articles/PMC1563997" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20delay%2C%20dysmorphic%20facies%2C%20and%20brain%20anomalies%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 (29)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36722669">Tethered cord syndrome in KBG syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hills S,
|
||
Pugacheva A,
|
||
Weltin P,
|
||
Maughan A,
|
||
Morton SU,
|
||
Feldman HA,
|
||
Klinge PM,
|
||
Agrawal PB</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 May;191(5):1222-1226.
|
||
Epub 2023 Feb 1
|
||
doi: 10.1002/ajmg.a.63128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36722669" target="_blank">36722669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33522091">Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glinton KE,
|
||
Hurst ACE,
|
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Bowling KM,
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Cristian I,
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Haynes D,
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Adstamongkonkul D,
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Schnappauf O,
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Beck DB,
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Brewer C,
|
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Parikh AS,
|
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Shinde DN,
|
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Donaldson A,
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Brautbar A,
|
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Koene S,
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van Haeringen A,
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Piton A,
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Capri Y,
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Furlan M,
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Gardella E,
|
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Møller RS,
|
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van de Beek I,
|
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Zuurbier L,
|
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Lakeman P,
|
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Bayat A,
|
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Martinez J,
|
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Signer R,
|
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Torring PM,
|
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Engelund MB,
|
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Gripp KW,
|
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Amlie-Wolf L,
|
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Henderson LB,
|
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Midro AT,
|
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Tarasów E,
|
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Stasiewicz-Jarocka B,
|
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Moskal-Jasinska D,
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Vos P,
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Boschann F,
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Stoltenburg C,
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Puk O,
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Mero IL,
|
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Lossius K,
|
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Mignot C,
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Keren B,
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Acosta Guio JC,
|
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Briceño I,
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Gomez A,
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Yang Y,
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Stankiewicz P</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
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2021 May;185(5):1366-1378.
|
||
Epub 2021 Jan 31
|
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doi: 10.1002/ajmg.a.62102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33522091" target="_blank">33522091</a><a href="/pmc/articles/PMC8048530" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23494922">A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shichiji M,
|
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Ito Y,
|
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Shimojima K,
|
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Nakamu H,
|
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Oguni H,
|
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Osawa M,
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Yamamoto T</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
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2013 Apr;161A(4):850-5.
|
||
Epub 2013 Mar 12
|
||
doi: 10.1002/ajmg.a.35768.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23494922" target="_blank">23494922</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17274816">Holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dubourg C,
|
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Bendavid C,
|
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Pasquier L,
|
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Henry C,
|
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Odent S,
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David V</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
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2007 Feb 2;2:8.
|
||
doi: 10.1186/1750-1172-2-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17274816" target="_blank">17274816</a><a href="/pmc/articles/PMC1802747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16939648">Congenital cataracts-facial dysmorphism-neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalaydjieva L</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Aug 29;1:32.
|
||
doi: 10.1186/1750-1172-1-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16939648" target="_blank">16939648</a><a href="/pmc/articles/PMC1563997" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20delay%2C%20dysmorphic%20facies%2C%20and%20brain%20anomalies%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 (110)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33597285">Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Del Borrello G,
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Guardo D,
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Micalizzi C,
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Ceccherini I,
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Miano M,
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Gattorno M,
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Dufour C</span><br />
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<span class="medgenPMjournal">Pediatrics</span>
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2021 Mar;147(3)
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doi: 10.1542/peds.2020-0784.
|
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<span class="bold">PMID: </span><a href="/pubmed/33597285" target="_blank">33597285</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/31243159">Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Melo Gomes S,
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Dias C,
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Omoyinmi E,
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Klein N,
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Sebire NJ,
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Brogan P</span><br />
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<span class="medgenPMjournal">Pediatrics</span>
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<span class="bold">PMID: </span><a href="/pubmed/31243159" target="_blank">31243159</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28302228">Anaesthetic Management in a Child with Goldenhar Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khan WA,
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Salim B,
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Khan AA,
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<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
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2017 Mar;27(3):S6-S7.
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<div class="nl"><a target="_blank" href="/pubmed/26566760">Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Faria ÁC,
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Rabbi-Bortolini E,
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Rebouças MRGO,
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de S Thiago Pereira ALA,
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Frasson MGT,
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Atique R,
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Lourenço NCV,
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Rosenberg C,
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<span class="bold">PMID: </span><a href="/pubmed/26566760" target="_blank">26566760</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12621246">Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bakhshi S,
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Cerosaletti KM,
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Concannon P,
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Bawle EV,
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Fontanesi J,
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2003 Mar;25(3):248-51.
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<span class="bold">PMID: </span><a href="/pubmed/12621246" target="_blank">12621246</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20delay%2C%20dysmorphic%20facies%2C%20and%20brain%20anomalies%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34199024">Neurological Phenotype of Mowat-Wilson Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cordelli DM,
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Di Pisa V,
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Fetta A,
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Ricci E</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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2021 Jun 27;12(7)
|
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doi: 10.3390/genes12070982.
|
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<span class="bold">PMID: </span><a href="/pubmed/34199024" target="_blank">34199024</a><a href="/pmc/articles/PMC8305916" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32452540">Lessons learned from 40 novel PIGA patients and a review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bayat A,
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Knaus A,
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Pendziwiat M,
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Afenjar A,
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Bosch F,
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Callewaert B,
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Freihuber C,
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Kievit A,
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Kooy FR,
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Korff CM,
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Kragh Hansen J,
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Larsen M,
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Layet V,
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Lesca G,
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Mignot C,
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Montomoli M,
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Helbig I,
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<span class="medgenPMjournal">Epilepsia</span>
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2020 Jun;61(6):1142-1155.
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Epub 2020 May 26
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<span class="bold">PMID: </span><a href="/pubmed/32452540" target="_blank">32452540</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/25590404">Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Winter TC,
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Kennedy AM,
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<span class="bold">PMID: </span><a href="/pubmed/25590404" target="_blank">25590404</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17274816">Holoprosencephaly.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dubourg C,
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Bendavid C,
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Pasquier L,
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Henry C,
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Odent S,
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2007 Feb 2;2:8.
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doi: 10.1186/1750-1172-2-8.
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<span class="bold">PMID: </span><a href="/pubmed/17274816" target="_blank">17274816</a><a href="/pmc/articles/PMC1802747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16939648">Congenital cataracts-facial dysmorphism-neuropathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kalaydjieva L</span><br />
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2006 Aug 29;1:32.
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<span class="bold">PMID: </span><a href="/pubmed/16939648" target="_blank">16939648</a><a href="/pmc/articles/PMC1563997" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20delay%2C%20dysmorphic%20facies%2C%20and%20brain%20anomalies%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 (29)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38753057">De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Harel T,
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Spicher C,
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Scheer E,
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Buchan JG,
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Frey T,
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Holtz AM,
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Innes AM,
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Keren B,
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Macken WL,
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Marcelis C,
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Otten CE,
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Paolucci SA,
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Petit F,
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Pfundt R,
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Pitceathly RDS,
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Rauch A,
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Ravenscroft G,
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Sanchev R,
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Steindl K,
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Tammer F,
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Tyndall A,
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Devys D,
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Vincent SD,
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Elpeleg O,
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Tora L</span><br />
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<span class="medgenPMjournal">Brain</span>
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2024 Aug 1;147(8):2732-2744.
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||
doi: 10.1093/brain/awae160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38753057" target="_blank">38753057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25590404">Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winter TC,
|
||
Kennedy AM,
|
||
Woodward PJ</span><br />
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<span class="medgenPMjournal">Radiographics</span>
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2015 Jan-Feb;35(1):275-90.
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doi: 10.1148/rg.351140040.
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<span class="bold">PMID: </span><a href="/pubmed/25590404" target="_blank">25590404</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23494922">A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shichiji M,
|
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Ito Y,
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Shimojima K,
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Nakamu H,
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Oguni H,
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Osawa M,
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Yamamoto T</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2013 Apr;161A(4):850-5.
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Epub 2013 Mar 12
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<span class="bold">PMID: </span><a href="/pubmed/23494922" target="_blank">23494922</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17274816">Holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dubourg C,
|
||
Bendavid C,
|
||
Pasquier L,
|
||
Henry C,
|
||
Odent S,
|
||
David V</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Feb 2;2:8.
|
||
doi: 10.1186/1750-1172-2-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17274816" target="_blank">17274816</a><a href="/pmc/articles/PMC1802747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16939648">Congenital cataracts-facial dysmorphism-neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalaydjieva L</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Aug 29;1:32.
|
||
doi: 10.1186/1750-1172-1-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16939648" target="_blank">16939648</a><a href="/pmc/articles/PMC1563997" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20delay%2C%20dysmorphic%20facies%2C%20and%20brain%20anomalies%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 (46)</a></div></div>
|
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|
||
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