nih-gov/www.ncbi.nlm.nih.gov/gtr/conditions/C5193040
2025-03-17 02:05:34 +00:00

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<span>Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome</span>
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<div><div class="rprt"><div class="page_header"><h1 class="margin_b0 margin_t0">Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome</h1></div><div class="rprt-section definition"><div class="rprt-section-header"><h2>Summary</h2></div><p class="rprt-section-body margin_t0"><Definition source="OMIM">Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by Vandervore et al., 2017).</Definition> [from <a href="http://www.omim.org" title="Online Mendelian Inheritance in Man" class="external-link" target="blank">OMIM</a>]</p></div><div class="rprt-section available-tests"><div class="rprt-section-header"><h2>Available tests</h2><div class="header-extra">23 tests are in the database for this condition. </div></div><div class="rprt-section-body ui-helper-clearfix"><h3>Clinical tests <a href="/gtr/all/tests/?term=C5193040&amp;filter=testtype:clinical">(23 available)</a></h3><div class="available-tests-1"><h4>Molecular Genetics Tests</h4><ul class="gtr-reset-list"><li><a href="/gtr/all/tests/?term=C5193040[DISCUI]&amp;filter=method:2_8;testtype:clinical" ref="ncbi_uid=1675672">Deletion/duplication analysis (20) </a></li><li><a href="/gtr/all/tests/?term=C5193040[DISCUI]&amp;filter=method:2_19;testtype:clinical" ref="ncbi_uid=1675672">Targeted variant analysis (4) </a></li><li><a href="/gtr/all/tests/?term=C5193040[DISCUI]&amp;filter=method:2_7;testtype:clinical" ref="ncbi_uid=1675672">Sequence analysis of the entire coding region (18) </a></li></ul></div></div></div><div class="rprt-section associated-genes" id="associated-genes"><h2>Genes <a href="/gtr/all/tests/?term=COL3A1[sym]">See tests for all associated and related genes</a></h2><div data-jig="ncbitabs"><ul><li><a href="#associated">Associated genes
<a class="jig-ncbipopper ui-corner-all ui-icon ui-icon-help question-button " href="#associated-genes-tab" title="" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Help</a><div id="associated-genes-tab" class="help-tooltip" style=" display: none;"><ToolTips>Genes reported to contribute to the condition.</ToolTips></div></a></li></ul><div id="associated"><ul class="associate_genes gtr-reset-list"><li><div><h3><a href="/gtr/genes/1281" ref="ncbi_uid=1675672&amp;link_uid=1281">COL3A1</a></h3><a href="/gtr/all/tests/?term=1281[geneid]">186 tests</a></div><p class="margin_t0 associate_genes_det"><strong>Also known as: </strong><span>EDS4A, EDSVASC, PMGEDSV, COL3A1</span><br /><strong>Summary: </strong>collagen type III alpha 1 chain</p></li></ul></div></div></div><div class="rprt-section"><div class="rprt-section-header"><div class="tooltip-wr"><h2 id="clinical-features">Clinical features</h2><a class="jig-ncbipopper ui-corner-all ui-icon ui-icon-help question-button " href="#clinicalfeatures" title="" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Help</a><span id="clinicalfeatures" class="help-tooltip hidden">List of clinical features of the condition/phenotype displayed from sources such as the Human Phenotype Ontology (HPO) and OMIM. For more information about the disease, please go to the disease information page.</span></div><div class="header-extra cf_disclaimer"><a href="https://hpo.jax.org/app/" class="external-link" target="_blank">Imported from Human Phenotype Ontology (HPO)</a></div></div><div class="rprt-section-body cft-container"><p class="cf-tools"><a href="#show-all-cf">Show all</a><a href="#hide-all-cf">Hide all</a></p><ul class="cf-cat gtr-reset-list"><li><a href="#cf-list-cat-1" class="jig-ncbitoggler">Abnormality of head or neck</a><ul class="cf-list-cat-item" id="cf-list-cat-1"><li><a href="#cf-list-cat-1-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Dental crowding</a><div id="cf-list-cat-1-1" class="hidden cf-popper-item-info"><h3>Dental crowding</h3><ul><li>MedGen UID: 11850</li><li>Concept ID: C0040433</li><li>Finding: Finding</li></ul><p>Abnormality of head or neck</p><p>See: <a href="/medgen/11850">Feature record</a> | <a href="/medgen/?term=&quot;Dental crowding&quot;[Clinical Features] OR 11850[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-1-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Gingival recession</a><div id="cf-list-cat-1-2" class="hidden cf-popper-item-info"><h3>Gingival recession</h3><ul><li>MedGen UID: 6607</li><li>Concept ID: C0017572</li><li>Finding: Finding</li></ul><p>Abnormality of head or neck</p><p>See: <a href="/medgen/6607">Feature record</a> | <a href="/medgen/?term=&quot;Gingival recession&quot;[Clinical Features] OR 6607[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-1-3" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Long face</a><div id="cf-list-cat-1-3" class="hidden cf-popper-item-info"><h3>Long face</h3><ul><li>MedGen UID: 324419</li><li>Concept ID: C1836047</li><li>Finding: Finding</li></ul><p>Abnormality of head or neck</p><p>See: <a href="/medgen/324419">Feature record</a> | <a href="/medgen/?term=&quot;Long face&quot;[Clinical Features] OR 324419[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-1-4" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Narrow nasal ridge</a><div id="cf-list-cat-1-4" class="hidden cf-popper-item-info"><h3>Narrow nasal ridge</h3><ul><li>MedGen UID: 373404</li><li>Concept ID: C1837761</li><li>Finding: Finding</li></ul><p>Abnormality of head or neck</p><p>See: <a href="/medgen/373404">Feature record</a> | <a href="/medgen/?term=&quot;Narrow nasal ridge&quot;[Clinical Features] OR 373404[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-1-5" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Short philtrum</a><div id="cf-list-cat-1-5" class="hidden cf-popper-item-info"><h3>Short philtrum</h3><ul><li>MedGen UID: 350006</li><li>Concept ID: C1861324</li><li>Finding: Finding</li></ul><p>Abnormality of head or neck</p><p>See: <a href="/medgen/350006">Feature record</a> | <a href="/medgen/?term=&quot;Short philtrum&quot;[Clinical Features] OR 350006[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-1-6" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Smooth philtrum</a><div id="cf-list-cat-1-6" class="hidden cf-popper-item-info"><h3>Smooth philtrum</h3><ul><li>MedGen UID: 222980</li><li>Concept ID: C1142533</li><li>Finding: Finding</li></ul><p>Abnormality of head or neck</p><p>See: <a href="/medgen/222980">Feature record</a> | <a href="/medgen/?term=&quot;Smooth philtrum&quot;[Clinical Features] OR 222980[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-1-7" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Thin vermilion border</a><div id="cf-list-cat-1-7" class="hidden cf-popper-item-info"><h3>Thin vermilion border</h3><ul><li>MedGen UID: 108294</li><li>Concept ID: C0578038</li><li>Finding: Finding</li></ul><p>Abnormality of head or neck</p><p>See: <a href="/medgen/108294">Feature record</a> | <a href="/medgen/?term=&quot;Thin vermilion border&quot;[Clinical Features] OR 108294[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-1-8" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Underdeveloped nasal alae</a><div id="cf-list-cat-1-8" class="hidden cf-popper-item-info"><h3>Underdeveloped nasal alae</h3><ul><li>MedGen UID: 322332</li><li>Concept ID: C1834055</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of head or neck</p><p>See: <a href="/medgen/322332">Feature record</a> | <a href="/medgen/?term=&quot;Underdeveloped nasal alae&quot;[Clinical Features] OR 322332[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-1-9" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Upslanted palpebral fissure</a><div id="cf-list-cat-1-9" class="hidden cf-popper-item-info"><h3>Upslanted palpebral fissure</h3><ul><li>MedGen UID: 98390</li><li>Concept ID: C0423109</li><li>Finding: Finding</li></ul><p>Abnormality of head or neck</p><p>See: <a href="/medgen/98390">Feature record</a> | <a href="/medgen/?term=&quot;Upslanted palpebral fissure&quot;[Clinical Features] OR 98390[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-2" class="jig-ncbitoggler">Abnormality of limbs</a><ul class="cf-list-cat-item" id="cf-list-cat-2"><li><a href="#cf-list-cat-2-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Bilateral talipes equinovarus</a><div id="cf-list-cat-2-1" class="hidden cf-popper-item-info"><h3>Bilateral talipes equinovarus</h3><ul><li>MedGen UID: 332956</li><li>Concept ID: C1837835</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/332956">Feature record</a> | <a href="/medgen/?term=&quot;Bilateral talipes equinovarus&quot;[Clinical Features] OR 332956[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Clubfoot</a><div id="cf-list-cat-2-2" class="hidden cf-popper-item-info"><h3>Clubfoot</h3><ul><li>MedGen UID: 3130</li><li>Concept ID: C0009081</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/3130">Feature record</a> | <a href="/medgen/?term=&quot;Clubfoot&quot;[Clinical Features] OR 3130[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-3" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Long fingers</a><div id="cf-list-cat-2-3" class="hidden cf-popper-item-info"><h3>Long fingers</h3><ul><li>MedGen UID: 346836</li><li>Concept ID: C1858091</li><li>Finding: Finding</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/346836">Feature record</a> | <a href="/medgen/?term=&quot;Long fingers&quot;[Clinical Features] OR 346836[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-4" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Slender finger</a><div id="cf-list-cat-2-4" class="hidden cf-popper-item-info"><h3>Slender finger</h3><ul><li>MedGen UID: 387832</li><li>Concept ID: C1857482</li><li>Finding: Finding</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/387832">Feature record</a> | <a href="/medgen/?term=&quot;Slender finger&quot;[Clinical Features] OR 387832[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-3" class="jig-ncbitoggler">Abnormality of prenatal development or birth</a><ul class="cf-list-cat-item" id="cf-list-cat-3"><li><a href="#cf-list-cat-3-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Premature rupture of membranes</a><div id="cf-list-cat-3-1" class="hidden cf-popper-item-info"><h3>Premature rupture of membranes</h3><ul><li>MedGen UID: 8826</li><li>Concept ID: C0015944</li><li>Finding: Pathologic Function</li></ul><p>Abnormality of prenatal development or birth</p><p>See: <a href="/medgen/8826">Feature record</a> | <a href="/medgen/?term=&quot;Premature rupture of membranes&quot;[Clinical Features] OR 8826[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-4" class="jig-ncbitoggler">Abnormality of the cardiovascular system</a><ul class="cf-list-cat-item" id="cf-list-cat-4"><li><a href="#cf-list-cat-4-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Aortic dissection</a><div id="cf-list-cat-4-1" class="hidden cf-popper-item-info"><h3>Aortic dissection</h3><ul><li>MedGen UID: 83315</li><li>Concept ID: C0340643</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the cardiovascular system</p><p>See: <a href="/medgen/83315">Feature record</a> | <a href="/medgen/?term=&quot;Aortic dissection&quot;[Clinical Features] OR 83315[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-4-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Pulmonic stenosis</a><div id="cf-list-cat-4-2" class="hidden cf-popper-item-info"><h3>Pulmonic stenosis</h3><ul><li>MedGen UID: 408291</li><li>Concept ID: C1956257</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the cardiovascular system</p><p>See: <a href="/medgen/408291">Feature record</a> | <a href="/medgen/?term=&quot;Pulmonic stenosis&quot;[Clinical Features] OR 408291[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-4-3" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Varicose disease</a><div id="cf-list-cat-4-3" class="hidden cf-popper-item-info"><h3>Varicose disease</h3><ul><li>MedGen UID: 21827</li><li>Concept ID: C0042345</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the cardiovascular system</p><p>See: <a href="/medgen/21827">Feature record</a> | <a href="/medgen/?term=&quot;Varicose disease&quot;[Clinical Features] OR 21827[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-4-4" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Vascular dilatation</a><div id="cf-list-cat-4-4" class="hidden cf-popper-item-info"><h3>Vascular dilatation</h3><ul><li>MedGen UID: 8076</li><li>Concept ID: C0002940</li><li>Finding: Pathologic Function</li></ul><p>Abnormality of the cardiovascular system</p><p>See: <a href="/medgen/8076">Feature record</a> | <a href="/medgen/?term=&quot;Vascular dilatation&quot;[Clinical Features] OR 8076[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-5" class="jig-ncbitoggler">Abnormality of the eye</a><ul class="cf-list-cat-item" id="cf-list-cat-5"><li><a href="#cf-list-cat-5-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Abnormality of eye movement</a><div id="cf-list-cat-5-1" class="hidden cf-popper-item-info"><h3>Abnormality of eye movement</h3><ul><li>MedGen UID: 99227</li><li>Concept ID: C0497202</li><li>Finding: Finding</li></ul><p>Abnormality of the eye</p><p>See: <a href="/medgen/99227">Feature record</a> | <a href="/medgen/?term=&quot;Abnormality of eye movement&quot;[Clinical Features] OR 99227[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-5-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Deeply set eye</a><div id="cf-list-cat-5-2" class="hidden cf-popper-item-info"><h3>Deeply set eye</h3><ul><li>MedGen UID: 473112</li><li>Concept ID: C0423224</li><li>Finding: Finding</li></ul><p>Abnormality of the eye</p><p>See: <a href="/medgen/473112">Feature record</a> | <a href="/medgen/?term=&quot;Deeply set eye&quot;[Clinical Features] OR 473112[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-5-3" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Hypermetropia</a><div id="cf-list-cat-5-3" class="hidden cf-popper-item-info"><h3>Hypermetropia</h3><ul><li>MedGen UID: 43780</li><li>Concept ID: C0020490</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the eye</p><p>See: <a href="/medgen/43780">Feature record</a> | <a href="/medgen/?term=&quot;Hypermetropia&quot;[Clinical Features] OR 43780[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-6" class="jig-ncbitoggler">Abnormality of the integument</a><ul class="cf-list-cat-item" id="cf-list-cat-6"><li><a href="#cf-list-cat-6-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Atrophic scars</a><div id="cf-list-cat-6-1" class="hidden cf-popper-item-info"><h3>Atrophic scars</h3><ul><li>MedGen UID: 57875</li><li>Concept ID: C0162154</li><li>Finding: Pathologic Function</li></ul><p>Abnormality of the integument</p><p>See: <a href="/medgen/57875">Feature record</a> | <a href="/medgen/?term=&quot;Atrophic scars&quot;[Clinical Features] OR 57875[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-6-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Bruising susceptibility</a><div id="cf-list-cat-6-2" class="hidden cf-popper-item-info"><h3>Bruising susceptibility</h3><ul><li>MedGen UID: 140849</li><li>Concept ID: C0423798</li><li>Finding: Finding</li></ul><p>Abnormality of the integument</p><p>See: <a href="/medgen/140849">Feature record</a> | <a href="/medgen/?term=&quot;Bruising susceptibility&quot;[Clinical Features] OR 140849[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-6-3" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Dermal translucency</a><div id="cf-list-cat-6-3" class="hidden cf-popper-item-info"><h3>Dermal translucency</h3><ul><li>MedGen UID: 373141</li><li>Concept ID: C1836646</li><li>Finding: Finding</li></ul><p>Abnormality of the integument</p><p>See: <a href="/medgen/373141">Feature record</a> | <a href="/medgen/?term=&quot;Dermal translucency&quot;[Clinical Features] OR 373141[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-7" class="jig-ncbitoggler">Abnormality of the musculoskeletal system</a><ul class="cf-list-cat-item" id="cf-list-cat-7"><li><a href="#cf-list-cat-7-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Atypical scarring of skin</a><div id="cf-list-cat-7-1" class="hidden cf-popper-item-info"><h3>Atypical scarring of skin</h3><ul><li>MedGen UID: 867415</li><li>Concept ID: C4021786</li><li>Finding: Pathologic Function</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/867415">Feature record</a> | <a href="/medgen/?term=&quot;Atypical scarring of skin&quot;[Clinical Features] OR 867415[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Camptodactyly</a><div id="cf-list-cat-7-2" class="hidden cf-popper-item-info"><h3>Camptodactyly</h3><ul><li>MedGen UID: 195780</li><li>Concept ID: C0685409</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/195780">Feature record</a> | <a href="/medgen/?term=&quot;Camptodactyly&quot;[Clinical Features] OR 195780[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-3" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Joint hypermobility</a><div id="cf-list-cat-7-3" class="hidden cf-popper-item-info"><h3>Joint hypermobility</h3><ul><li>MedGen UID: 336793</li><li>Concept ID: C1844820</li><li>Finding: Finding</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen/?term=&quot;Joint hypermobility&quot;[Clinical Features] OR 336793[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-4" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Micrognathia</a><div id="cf-list-cat-7-4" class="hidden cf-popper-item-info"><h3>Micrognathia</h3><ul><li>MedGen UID: 44428</li><li>Concept ID: C0025990</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen/?term=&quot;Micrognathia&quot;[Clinical Features] OR 44428[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-5" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Retrognathia</a><div id="cf-list-cat-7-5" class="hidden cf-popper-item-info"><h3>Retrognathia</h3><ul><li>MedGen UID: 19766</li><li>Concept ID: C0035353</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/19766">Feature record</a> | <a href="/medgen/?term=&quot;Retrognathia&quot;[Clinical Features] OR 19766[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-8" class="jig-ncbitoggler">Abnormality of the nervous system</a><ul class="cf-list-cat-item" id="cf-list-cat-8"><li><a href="#cf-list-cat-8-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Cerebellar cyst</a><div id="cf-list-cat-8-1" class="hidden cf-popper-item-info"><h3>Cerebellar cyst</h3><ul><li>MedGen UID: 339835</li><li>Concept ID: C1847762</li><li>Finding: Finding</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/339835">Feature record</a> | <a href="/medgen/?term=&quot;Cerebellar cyst&quot;[Clinical Features] OR 339835[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-8-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Cerebellar hypoplasia</a><div id="cf-list-cat-8-2" class="hidden cf-popper-item-info"><h3>Cerebellar hypoplasia</h3><ul><li>MedGen UID: 120578</li><li>Concept ID: C0266470</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/120578">Feature record</a> | <a href="/medgen/?term=&quot;Cerebellar hypoplasia&quot;[Clinical Features] OR 120578[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-8-3" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Cortical dysplasia</a><div id="cf-list-cat-8-3" class="hidden cf-popper-item-info"><h3>Cortical dysplasia</h3><ul><li>MedGen UID: 98129</li><li>Concept ID: C0431380</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/98129">Feature record</a> | <a href="/medgen/?term=&quot;Cortical dysplasia&quot;[Clinical Features] OR 98129[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-8-4" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Delayed ability to sit</a><div id="cf-list-cat-8-4" class="hidden cf-popper-item-info"><h3>Delayed ability to sit</h3><ul><li>MedGen UID: 1368737</li><li>Concept ID: C4476710</li><li>Finding: Finding</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/1368737">Feature record</a> | <a href="/medgen/?term=&quot;Delayed ability to sit&quot;[Clinical Features] OR 1368737[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-8-5" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Delayed ability to walk</a><div id="cf-list-cat-8-5" class="hidden cf-popper-item-info"><h3>Delayed ability to walk</h3><ul><li>MedGen UID: 66034</li><li>Concept ID: C0241726</li><li>Finding: Finding</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen/?term=&quot;Delayed ability to walk&quot;[Clinical Features] OR 66034[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-8-6" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Delayed speech and language development</a><div id="cf-list-cat-8-6" class="hidden cf-popper-item-info"><h3>Delayed speech and language development</h3><ul><li>MedGen UID: 105318</li><li>Concept ID: C0454644</li><li>Finding: Finding</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen/?term=&quot;Delayed speech and language development&quot;[Clinical Features] OR 105318[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-8-7" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Hypoplasia of the brainstem</a><div id="cf-list-cat-8-7" class="hidden cf-popper-item-info"><h3>Hypoplasia of the brainstem</h3><ul><li>MedGen UID: 334226</li><li>Concept ID: C1842688</li><li>Finding: Finding</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/334226">Feature record</a> | <a href="/medgen/?term=&quot;Hypoplasia of the brainstem&quot;[Clinical Features] OR 334226[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-8-8" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Motor delay</a><div id="cf-list-cat-8-8" class="hidden cf-popper-item-info"><h3>Motor delay</h3><ul><li>MedGen UID: 381392</li><li>Concept ID: C1854301</li><li>Finding: Finding</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen/?term=&quot;Motor delay&quot;[Clinical Features] OR 381392[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-8-9" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Polymicrogyria</a><div id="cf-list-cat-8-9" class="hidden cf-popper-item-info"><h3>Polymicrogyria</h3><ul><li>MedGen UID: 78605</li><li>Concept ID: C0266464</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/78605">Feature record</a> | <a href="/medgen/?term=&quot;Polymicrogyria&quot;[Clinical Features] OR 78605[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-8-10" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Seizure</a><div id="cf-list-cat-8-10" class="hidden cf-popper-item-info"><h3>Seizure</h3><ul><li>MedGen UID: 20693</li><li>Concept ID: C0036572</li><li>Finding: Sign or Symptom</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen/?term=&quot;Seizure&quot;[Clinical Features] OR 20693[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-8-11" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Typical absence seizure</a><div id="cf-list-cat-8-11" class="hidden cf-popper-item-info"><h3>Typical absence seizure</h3><ul><li>MedGen UID: 1790454</li><li>Concept ID: C5551411</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/1790454">Feature record</a> | <a href="/medgen/?term=&quot;Typical absence seizure&quot;[Clinical Features] OR 1790454[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-8-12" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Ventriculomegaly</a><div id="cf-list-cat-8-12" class="hidden cf-popper-item-info"><h3>Ventriculomegaly</h3><ul><li>MedGen UID: 480553</li><li>Concept ID: C3278923</li><li>Finding: Finding</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen/?term=&quot;Ventriculomegaly&quot;[Clinical Features] OR 480553[uid]">Search on this feature</a></p></div></li></ul></li></ul></div></div></div></div>
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