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<!--
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UID=892343
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ConceptID=C4021765
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Morphological central nervous system abnormality</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892343</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.">C4021765</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormality of the central nervous system; central nervous disease; Central nervous system disease; central nervous system disease; central nervous system disease or disorder; central nervous system disorder; CNS disorder; disease of central nervous system; disease of the central nervous system; disease or disorder of central nervous system; disorder of central nervous system; Morphological abnormality of the central nervous system; Morphological abnormality of the CNS</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002011">HP:0002011</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0002602" target="_blank">MONDO:0002602</a></td></tr>
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</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>
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<div class="portlet_content ln">A structural abnormality of the central nervous system. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Morphological central nervous system abnormality</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="matched_ds">Morphological central nervous system abnormality</span><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/342543" ref="tree=MeSH" title="MedGen record for Abnormal brainstem morphology">Abnormal brainstem morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868355" ref="tree=MeSH" title="MedGen record for Abnormal brainstem MRI signal intensity">Abnormal brainstem MRI signal intensity</a></span></li><li><span class="TLline"><a href="/medgen/868482" ref="tree=MeSH" title="MedGen record for Abnormal brainstem white matter morphology">Abnormal brainstem white matter morphology</a></span></li><li><span class="TLline"><a href="/medgen/82849" ref="tree=MeSH" title="MedGen record for Brain stem compression">Brain stem compression</a></span></li><li><span class="TLline"><a href="/medgen/383739" ref="tree=MeSH" title="MedGen record for Brainstem dysplasia">Brainstem dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1054319" ref="tree=MeSH" title="MedGen record for Brainstem lucency">Brainstem lucency</a></span></li><li><span class="TLline"><a href="/medgen/868347" ref="tree=MeSH" title="MedGen record for Enlarged brainstem">Enlarged brainstem</a></span></li><li><span class="TLline"><a href="/medgen/1841700" ref="tree=MeSH" title="MedGen record for Enlarged tectum">Enlarged tectum</a></span></li><li><span class="TLline"><a href="/medgen/1842052" ref="tree=MeSH" title="MedGen record for Focal necrotic brainstem lesion">Focal necrotic brainstem lesion</a></span></li><li><span class="TLline"><a href="/medgen/866721" ref="tree=MeSH" title="MedGen record for Kinked brainstem">Kinked brainstem</a></span></li><li><span class="TLline"><a href="/medgen/1374384" ref="tree=MeSH" title="MedGen record for Midline cervical cleft">Midline cervical cleft</a></span></li><li><span 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morphology">Abnormal third ventricle morphology</a></span></li><li><span class="TLline"><a href="/medgen/75614" ref="tree=MeSH" title="MedGen record for Aqueductal stenosis">Aqueductal stenosis</a></span></li><li><span class="TLline"><a href="/medgen/867762" ref="tree=MeSH" title="MedGen record for Cerebral ventricular adhesions">Cerebral ventricular adhesions</a></span></li><li><span class="TLline"><a href="/medgen/867526" ref="tree=MeSH" title="MedGen record for Lateral ventricular asymmetry">Lateral ventricular asymmetry</a></span></li><li><span class="TLline"><a href="/medgen/480553" ref="tree=MeSH" title="MedGen record for Ventriculomegaly">Ventriculomegaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866620" ref="tree=MeSH" title="MedGen record for Abnormal forebrain morphology">Abnormal forebrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867394" ref="tree=MeSH" title="MedGen record for Abnormal cerebral morphology">Abnormal cerebral morphology</a></span></li><li><span class="TLline"><a href="/medgen/869326" ref="tree=MeSH" title="MedGen record for Abnormal diencephalon morphology">Abnormal diencephalon morphology</a></span></li><li><span class="TLline"><a href="/medgen/400282" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the limbic system">Abnormal morphology of the limbic system</a></span></li><li><span class="TLline"><a href="/medgen/1388809" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the olfactory bulb">Abnormal morphology of the olfactory bulb</a></span></li><li><span class="TLline"><a href="/medgen/1369989" ref="tree=MeSH" title="MedGen record for Abnormal olfactory lobe morphology">Abnormal olfactory lobe morphology</a></span></li><li><span class="TLline"><a href="/medgen/1696405" ref="tree=MeSH" title="MedGen record for Aplasia of the olfactory tract">Aplasia of the olfactory tract</a></span></li><li><span class="TLline"><a href="/medgen/36258" ref="tree=MeSH" title="MedGen record for Arrhinencephaly">Arrhinencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866816" ref="tree=MeSH" title="MedGen record for Abnormal hindbrain morphology">Abnormal hindbrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866796" ref="tree=MeSH" title="MedGen record for Abnormal medulla oblongata morphology">Abnormal medulla oblongata morphology</a></span></li><li><span class="TLline"><a href="/medgen/869015" ref="tree=MeSH" title="MedGen record for Abnormal metencephalon morphology">Abnormal metencephalon morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867390" ref="tree=MeSH" title="MedGen record for Abnormal midbrain morphology">Abnormal midbrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1778231" ref="tree=MeSH" title="MedGen record for Abnormal red nucleus morphology">Abnormal red nucleus morphology</a></span></li><li><span class="TLline"><a href="/medgen/868012" ref="tree=MeSH" title="MedGen record for Abnormal substantia nigra morphology">Abnormal substantia nigra morphology</a></span></li><li><span class="TLline"><a href="/medgen/1814399" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the midbrain">Aplasia/Hypoplasia of the midbrain</a></span></li><li><span class="TLline"><a href="/medgen/1814396" ref="tree=MeSH" title="MedGen record for Face of the giant panda sign">Face of the giant panda sign</a></span></li><li><span class="TLline"><a href="/medgen/400670" ref="tree=MeSH" title="MedGen record for Molar tooth sign on MRI">Molar tooth sign on MRI</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1843446" ref="tree=MeSH" title="MedGen record for Abnormal pituitary gland morphology">Abnormal pituitary gland morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868799" ref="tree=MeSH" title="MedGen record for Abnormal posterior pituitary morphogenesis">Abnormal posterior pituitary morphogenesis</a></span></li><li><span class="TLline"><a href="/medgen/868480" ref="tree=MeSH" title="MedGen record for Abnormal size of pituitary gland">Abnormal size of pituitary gland</a></span></li><li><span class="TLline"><a href="/medgen/892315" ref="tree=MeSH" title="MedGen record for Abnormality of the anterior pituitary">Abnormality of the anterior pituitary</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44018" ref="tree=MeSH" title="MedGen record for Bilirubin encephalopathy">Bilirubin encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1808922" ref="tree=MeSH" title="MedGen record for Acute bilirubin encephalopathy">Acute bilirubin encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1806573" ref="tree=MeSH" title="MedGen record for Chronic bilirubin encephalopathy">Chronic bilirubin encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/542597" ref="tree=MeSH" title="MedGen record for Kernicterus due to isoimmunization">Kernicterus due to isoimmunization</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1643639" ref="tree=MeSH" title="MedGen record for Brain atrophy">Brain atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/870452" ref="tree=MeSH" title="MedGen record for Atrophy/Degeneration affecting the cerebrum">Atrophy/Degeneration affecting the cerebrum</a></span></li><li><span class="TLline"><a href="/medgen/66840" ref="tree=MeSH" title="MedGen record for Global brain atrophy">Global brain atrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863714" ref="tree=MeSH" title="MedGen record for Brain parenchymal tuberculoma">Brain parenchymal tuberculoma</a></span></li><li><span class="TLline"><a href="/medgen/1842114" ref="tree=MeSH" title="MedGen record for Brain xanthomatosis">Brain xanthomatosis</a></span></li><li><span class="TLline"><a href="/medgen/38214" ref="tree=MeSH" title="MedGen record for Holoprosencephaly sequence">Holoprosencephaly sequence</a></span><ul><li><span class="TLline"><a href="/medgen/78541" ref="tree=MeSH" title="MedGen record for Agnathia-otocephaly complex">Agnathia-otocephaly complex</a></span></li><li><span class="TLline"><a href="/medgen/140909" ref="tree=MeSH" title="MedGen record for Alobar holoprosencephaly">Alobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/382704" ref="tree=MeSH" title="MedGen record for Chromosome 1q41-q42 deletion syndrome">Chromosome 1q41-q42 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/452352" ref="tree=MeSH" title="MedGen record for Ethmocephaly">Ethmocephaly</a></span></li><li><span class="TLline"><a href="/medgen/335111" ref="tree=MeSH" title="MedGen record for Hartsfield-Bixler-Demyer syndrome">Hartsfield-Bixler-Demyer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78617" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 1">Holoprosencephaly 1</a></span></li><li><span class="TLline"><a href="/medgen/322517" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 2">Holoprosencephaly 2</a></span></li><li><span class="TLline"><a href="/medgen/327125" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 3">Holoprosencephaly 3</a></span></li><li><span class="TLline"><a href="/medgen/374488" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 4">Holoprosencephaly 4</a></span></li><li><span class="TLline"><a href="/medgen/355304" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 5">Holoprosencephaly 5</a></span></li><li><span class="TLline"><a href="/medgen/342979" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 6">Holoprosencephaly 6</a></span></li><li><span class="TLline"><a href="/medgen/372134" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 7">Holoprosencephaly 7</a></span></li><li><span class="TLline"><a href="/medgen/322873" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 8">Holoprosencephaly 8</a></span></li><li><span class="TLline"><a href="/medgen/324369" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 9">Holoprosencephaly 9</a></span></li><li><span class="TLline"><a href="/medgen/441620" ref="tree=MeSH" title="MedGen record for Holoprosencephaly caudal dysgenesis">Holoprosencephaly caudal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/441187" ref="tree=MeSH" title="MedGen record for Holoprosencephaly deletion 2p">Holoprosencephaly deletion 2p</a></span></li><li><span class="TLline"><a href="/medgen/441188" ref="tree=MeSH" title="MedGen record for Holoprosencephaly ectrodactyly cleft lip palate">Holoprosencephaly ectrodactyly cleft lip palate</a></span></li><li><span class="TLline"><a href="/medgen/441189" ref="tree=MeSH" title="MedGen record for Holoprosencephaly radial heart renal anomalies">Holoprosencephaly radial heart renal anomalies</a></span></li><li><span class="TLline"><a href="/medgen/343987" ref="tree=MeSH" title="MedGen record for Holoprosencephaly, recurrent infections, and monocytosis">Holoprosencephaly, recurrent infections, and monocytosis</a></span></li><li><span class="TLline"><a href="/medgen/330464" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-craniosynostosis syndrome">Holoprosencephaly-craniosynostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336097" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-hypokinesia-congenital contractures syndrome">Holoprosencephaly-hypokinesia-congenital contractures syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340382" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-postaxial polydactyly syndrome">Holoprosencephaly-postaxial polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343380" ref="tree=MeSH" title="MedGen record for Lambotte syndrome">Lambotte syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96559" ref="tree=MeSH" title="MedGen record for Lobar holoprosencephaly">Lobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/798407" ref="tree=MeSH" title="MedGen record for Midline interhemispheric variant of holoprosencephaly">Midline interhemispheric variant of holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/468539" ref="tree=MeSH" title="MedGen record for NODAL-Related Holoprosencephaly">NODAL-Related Holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/199694" ref="tree=MeSH" title="MedGen record for Semilobar holoprosencephaly">Semilobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1843386" ref="tree=MeSH" title="MedGen record for Septopreoptic holoprosencephaly">Septopreoptic holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1708682" ref="tree=MeSH" title="MedGen record for Syntelencephaly">Syntelencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866729" ref="tree=MeSH" title="MedGen record for Iron accumulation in brain">Iron accumulation in brain</a></span><ul><li><span class="TLline"><a href="/medgen/871224" ref="tree=MeSH" title="MedGen record for Eye of the tiger anomaly of globus pallidus">Eye of the tiger anomaly of globus pallidus</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/488781" ref="tree=MeSH" title="MedGen record for Abnormal cerebrospinal fluid morphology">Abnormal cerebrospinal fluid morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1841889" ref="tree=MeSH" title="MedGen record for Abnormal CSF ion concentration">Abnormal CSF ion concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1842043" ref="tree=MeSH" title="MedGen record for Decreased CSF copper concentration">Decreased CSF copper concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1385608" ref="tree=MeSH" title="MedGen record for Abnormal CSF metabolite concentration">Abnormal CSF metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1703312" ref="tree=MeSH" title="MedGen record for Abnormal CSF carboxylic acid concentration">Abnormal CSF carboxylic acid concentration</a></span></li><li><span class="TLline"><a href="/medgen/868408" ref="tree=MeSH" title="MedGen record for Abnormal CSF dopamine concentration">Abnormal CSF dopamine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1635041" ref="tree=MeSH" title="MedGen record for Abnormal CSF glucose concentration">Abnormal CSF glucose concentration</a></span></li><li><span class="TLline"><a href="/medgen/1814353" ref="tree=MeSH" title="MedGen record for Abnormal CSF homovanillic acid concentration">Abnormal CSF homovanillic acid concentration</a></span></li><li><span class="TLline"><a href="/medgen/868264" ref="tree=MeSH" title="MedGen record for Abnormal CSF lactate concentration">Abnormal CSF lactate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864423" ref="tree=MeSH" title="MedGen record for Abnormal CSF N-acetylaspartic acid concentration">Abnormal CSF N-acetylaspartic acid concentration</a></span></li><li><span class="TLline"><a href="/medgen/893141" ref="tree=MeSH" title="MedGen record for Abnormal CSF neopterin concentration">Abnormal CSF neopterin concentration</a></span></li><li><span class="TLline"><a href="/medgen/892726" ref="tree=MeSH" title="MedGen record for Abnormal CSF pterin concentration">Abnormal CSF pterin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1671008" ref="tree=MeSH" title="MedGen record for Abnormal CSF urate concentration">Abnormal CSF urate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863850" ref="tree=MeSH" title="MedGen record for Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration">Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration</a></span></li><li><span class="TLline"><a href="/medgen/1377914" ref="tree=MeSH" title="MedGen record for Decreased CSF 5-hydroxyindolacetic acid concentration">Decreased CSF 5-hydroxyindolacetic acid concentration</a></span></li><li><span class="TLline"><a href="/medgen/893131" ref="tree=MeSH" title="MedGen record for Decreased CSF 5-methyltetrahydrofolate concentration">Decreased CSF 5-methyltetrahydrofolate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841821" ref="tree=MeSH" title="MedGen record for Decreased CSF creatinine concentration">Decreased CSF creatinine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841877" ref="tree=MeSH" title="MedGen record for Decreased CSF epinephrine concentration">Decreased CSF epinephrine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1641831" ref="tree=MeSH" title="MedGen record for Decreased CSF erythritol concentration">Decreased CSF erythritol concentration</a></span></li><li><span class="TLline"><a href="/medgen/1842093" ref="tree=MeSH" title="MedGen record for Decreased CSF metanephrine concentration">Decreased CSF metanephrine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864035" ref="tree=MeSH" title="MedGen record for Decreased CSF N-acetylaspartic acid concentration">Decreased CSF N-acetylaspartic acid concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864003" ref="tree=MeSH" title="MedGen record for Elevated CSF 5-amino-4-imidazolecarboxyamide concentration">Elevated CSF 5-amino-4-imidazolecarboxyamide concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864104" ref="tree=MeSH" title="MedGen record for Elevated CSF 5-hydroxymethyluracil concentration">Elevated CSF 5-hydroxymethyluracil concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864420" ref="tree=MeSH" title="MedGen record for Elevated CSF ammonia concentration">Elevated CSF ammonia concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864195" ref="tree=MeSH" title="MedGen record for Elevated CSF apolipoprotein B concentration">Elevated CSF apolipoprotein B concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863532" ref="tree=MeSH" title="MedGen record for Elevated CSF cholestanol concentration">Elevated CSF cholestanol concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864114" ref="tree=MeSH" title="MedGen record for Elevated CSF dihydrothymine concentration">Elevated CSF dihydrothymine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864027" ref="tree=MeSH" title="MedGen record for Elevated CSF dihydrouracil concentration">Elevated CSF dihydrouracil concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841525" ref="tree=MeSH" title="MedGen record for Elevated CSF fumarate concentration">Elevated CSF fumarate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841752" ref="tree=MeSH" title="MedGen record for Elevated CSF hydroxyproline concentration">Elevated CSF hydroxyproline concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864155" ref="tree=MeSH" title="MedGen record for Elevated CSF N-carbamyl-beta-alanine concentration">Elevated CSF N-carbamyl-beta-alanine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864374" ref="tree=MeSH" title="MedGen record for Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration">Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863431" ref="tree=MeSH" title="MedGen record for Elevated CSF thymine concentration">Elevated CSF thymine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1632003" ref="tree=MeSH" title="MedGen record for Increased CSF D-threitol concentration">Increased CSF D-threitol concentration</a></span></li><li><span class="TLline"><a href="/medgen/341667" ref="tree=MeSH" title="MedGen record for Increased CSF interferon alpha">Increased CSF interferon alpha</a></span></li><li><span class="TLline"><a href="/medgen/1841929" ref="tree=MeSH" title="MedGen record for Increased CSF L-alloisoleucine concentration">Increased CSF L-alloisoleucine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1689724" ref="tree=MeSH" title="MedGen record for Increased CSF N-acetylaspartic acid concentration">Increased CSF N-acetylaspartic acid concentration</a></span></li><li><span class="TLline"><a href="/medgen/1645903" ref="tree=MeSH" title="MedGen record for Increased CSF ribitol concentration">Increased CSF ribitol concentration</a></span></li><li><span class="TLline"><a href="/medgen/1638557" ref="tree=MeSH" title="MedGen record for Increased CSF ribose concentration">Increased CSF ribose concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841698" ref="tree=MeSH" title="MedGen record for Increased CSF taurine concentration">Increased CSF taurine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841961" ref="tree=MeSH" title="MedGen record for Increased CSF uracil concentration">Increased CSF uracil concentration</a></span></li><li><span class="TLline"><a href="/medgen/1634037" ref="tree=MeSH" title="MedGen record for Increased CSF xylitol concentration">Increased CSF xylitol concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863896" ref="tree=MeSH" title="MedGen record for Reduced CSF creatine concentration">Reduced CSF creatine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864299" ref="tree=MeSH" title="MedGen record for Reduced CSF pyridoxal-5'-phosphate concentration">Reduced CSF pyridoxal-5'-phosphate concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1380100" ref="tree=MeSH" title="MedGen record for Abnormal CSF protein concentration">Abnormal CSF protein concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1814201" ref="tree=MeSH" title="MedGen record for Abnormal amyloid beta peptide CSF concentration">Abnormal amyloid beta peptide CSF concentration</a></span></li><li><span class="TLline"><a href="/medgen/1685238" ref="tree=MeSH" title="MedGen record for Abnormal CSF albumin concentration">Abnormal CSF albumin concentration</a></span></li><li><span class="TLline"><a href="/medgen/908313" ref="tree=MeSH" title="MedGen record for Abnormal CSF amyloid concentration">Abnormal CSF amyloid concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863921" ref="tree=MeSH" title="MedGen record for CSF oligoclonal immunoglobulin G bands">CSF oligoclonal immunoglobulin G bands</a></span></li><li><span class="TLline"><a href="/medgen/1863979" ref="tree=MeSH" title="MedGen record for Decreased CSF asialotransferrin to transferrin ratio">Decreased CSF asialotransferrin to transferrin ratio</a></span></li><li><span class="TLline"><a href="/medgen/1863697" ref="tree=MeSH" title="MedGen record for Decreased CSF N-acetyl-aspartyl-glutamate concentration">Decreased CSF N-acetyl-aspartyl-glutamate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1387378" ref="tree=MeSH" title="MedGen record for Decreased CSF protein concentration">Decreased CSF protein concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863726" ref="tree=MeSH" title="MedGen record for Elevated CSF alpha-crystallin B chain concentration">Elevated CSF alpha-crystallin B chain concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841616" ref="tree=MeSH" title="MedGen record for Elevated CSF angiotensin-converting enzyme concentration">Elevated CSF angiotensin-converting enzyme concentration</a></span></li><li><span class="TLline"><a href="/medgen/1712808" ref="tree=MeSH" title="MedGen record for Elevated CSF chitinase-3-like protein 1 concentration">Elevated CSF chitinase-3-like protein 1 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1717160" ref="tree=MeSH" title="MedGen record for Elevated CSF chitotriosidase 1 concentration">Elevated CSF chitotriosidase 1 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1708488" ref="tree=MeSH" title="MedGen record for Elevated CSF glial fibrillary acidic protein concentration">Elevated CSF glial fibrillary acidic protein concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863612" ref="tree=MeSH" title="MedGen record for Elevated CSF myelin basic protein concentration">Elevated CSF myelin basic protein concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841530" ref="tree=MeSH" title="MedGen record for Elevated CSF neurofilament light chain concentration">Elevated CSF neurofilament light chain concentration</a></span></li><li><span class="TLline"><a href="/medgen/329971" ref="tree=MeSH" title="MedGen record for Increased CSF protein concentration">Increased CSF protein concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1381163" ref="tree=MeSH" title="MedGen record for Abnormal CSF/serum albumin ratio">Abnormal CSF/serum albumin ratio</a></span><ul><li><span class="TLline"><a href="/medgen/1374729" ref="tree=MeSH" title="MedGen record for Decreased CSF/serum albumin ratio">Decreased CSF/serum albumin ratio</a></span></li><li><span class="TLline"><a href="/medgen/1375860" ref="tree=MeSH" title="MedGen record for Increased CSF/serum albumin ratio">Increased CSF/serum albumin ratio</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1702901" ref="tree=MeSH" title="MedGen record for Abnormality of neutrophil morphology in CSF">Abnormality of neutrophil morphology in CSF</a></span><ul><li><span class="TLline"><a href="/medgen/1688740" ref="tree=MeSH" title="MedGen record for Hypersegmentation of neutrophil nuclei in CSF">Hypersegmentation of neutrophil nuclei in CSF</a></span></li><li><span class="TLline"><a href="/medgen/1685732" ref="tree=MeSH" title="MedGen record for Hyposegmentation of neutrophil nuclei in CSF">Hyposegmentation of neutrophil nuclei in CSF</a></span></li><li><span class="TLline"><a href="/medgen/1705120" ref="tree=MeSH" title="MedGen record for Neutrophil nuclear clefts">Neutrophil nuclear clefts</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863961" ref="tree=MeSH" title="MedGen record for Cerebrospinal fluid erythrocytes">Cerebrospinal fluid erythrocytes</a></span></li><li><span class="TLline"><a href="/medgen/3331" ref="tree=MeSH" title="MedGen record for Cerebrospinal fluid rhinorrhoea">Cerebrospinal fluid rhinorrhoea</a></span></li><li><span class="TLline"><a href="/medgen/1841747" ref="tree=MeSH" title="MedGen record for CSF infectious agent">CSF infectious agent</a></span><ul><li><span class="TLline"><a href="/medgen/1841734" ref="tree=MeSH" title="MedGen record for Bacteria in cerebrospinal fluid">Bacteria in cerebrospinal fluid</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56247" ref="tree=MeSH" title="MedGen record for CSF pleocytosis">CSF pleocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/1863440" ref="tree=MeSH" title="MedGen record for Cerebrospinal fluid eosinophilia">Cerebrospinal fluid eosinophilia</a></span></li><li><span class="TLline"><a href="/medgen/140894" ref="tree=MeSH" title="MedGen record for CSF lymphocytic pleiocytosis">CSF lymphocytic pleiocytosis</a></span></li><li><span class="TLline"><a href="/medgen/868346" ref="tree=MeSH" title="MedGen record for CSF polymorphonuclear pleocytosis">CSF polymorphonuclear pleocytosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868477" ref="tree=MeSH" title="MedGen record for Extra-axial cerebrospinal fluid accumulation">Extra-axial cerebrospinal fluid accumulation</a></span></li><li><span class="TLline"><a href="/medgen/9335" ref="tree=MeSH" title="MedGen record for Hydrocephalus">Hydrocephalus</a></span><ul><li><span class="TLline"><a href="/medgen/1058" ref="tree=MeSH" title="MedGen record for Communicating hydrocephalus">Communicating hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/9336" ref="tree=MeSH" title="MedGen record for Congenital hydrocephalus">Congenital hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/4150" ref="tree=MeSH" title="MedGen record for Dandy-Walker syndrome">Dandy-Walker syndrome</a></span></li><li><span class="TLline"><a href="/medgen/608955" ref="tree=MeSH" title="MedGen record for External hydrocephalus">External hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/108198" ref="tree=MeSH" title="MedGen record for Noncommunicating hydrocephalus">Noncommunicating hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/42526" ref="tree=MeSH" title="MedGen record for Normal pressure hydrocephalus">Normal pressure hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/857470" ref="tree=MeSH" title="MedGen record for Post-Inflammatory Hydrocephalus">Post-Inflammatory Hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/721409" ref="tree=MeSH" title="MedGen record for Posthemorrhagic hydrocephalus">Posthemorrhagic hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/479753" ref="tree=MeSH" title="MedGen record for Severe hydrocephalus">Severe hydrocephalus</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/869332" ref="tree=MeSH" title="MedGen record for Abnormal meningeal morphology">Abnormal meningeal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866609" ref="tree=MeSH" title="MedGen record for Abnormal arachnoid mater morphology">Abnormal arachnoid mater morphology</a></span><ul><li><span class="TLline"><a href="/medgen/86860" ref="tree=MeSH" title="MedGen record for Arachnoid cyst">Arachnoid cyst</a></span></li><li><span class="TLline"><a href="/medgen/65314" ref="tree=MeSH" title="MedGen record for Arachnoid granulation">Arachnoid granulation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869331" ref="tree=MeSH" title="MedGen record for Abnormal dura mater morphology">Abnormal dura mater morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869785" ref="tree=MeSH" title="MedGen record for Abnormal spinal dura mater morphology">Abnormal spinal dura mater morphology</a></span></li><li><span class="TLline"><a href="/medgen/866891" ref="tree=MeSH" title="MedGen record for Abnormality of the falx cerebri">Abnormality of the falx cerebri</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867608" ref="tree=MeSH" title="MedGen record for Abnormal pia mater">Abnormal pia mater</a></span></li><li><span class="TLline"><a href="/medgen/869487" ref="tree=MeSH" title="MedGen record for Abnormal spinal meningeal morphology">Abnormal spinal meningeal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/377094" ref="tree=MeSH" title="MedGen record for Dural ectasia">Dural ectasia</a></span></li><li><span class="TLline"><a href="/medgen/1694876" ref="tree=MeSH" title="MedGen record for Dural tail sign">Dural tail sign</a></span></li><li><span class="TLline"><a href="/medgen/536121" ref="tree=MeSH" title="MedGen record for Empty delta sign">Empty delta sign</a></span></li><li><span class="TLline"><a href="/medgen/869486" ref="tree=MeSH" title="MedGen record for Spinal meningeal diverticulum">Spinal meningeal diverticulum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864327" ref="tree=MeSH" title="MedGen record for Basilar meningeal enhancement">Basilar meningeal enhancement</a></span></li><li><span class="TLline"><a href="/medgen/1671079" ref="tree=MeSH" title="MedGen record for Leptomeningeal enhancement">Leptomeningeal enhancement</a></span></li><li><span class="TLline"><a href="/medgen/827161" ref="tree=MeSH" title="MedGen record for Spontaneous cerebrospinal fluid leak">Spontaneous cerebrospinal fluid leak</a></span></li><li><span class="TLline"><a href="/medgen/155876" ref="tree=MeSH" title="MedGen record for Subdural hygroma">Subdural hygroma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1620065" ref="tree=MeSH" title="MedGen record for Abnormal neural tube morphology">Abnormal neural tube morphology</a></span><ul><li><span class="TLline"><a href="/medgen/18009" ref="tree=MeSH" title="MedGen record for Neural tube defect">Neural tube defect</a></span><ul><li><span class="TLline"><a href="/medgen/8068" ref="tree=MeSH" title="MedGen record for Anencephaly">Anencephaly</a></span></li><li><span class="TLline"><a href="/medgen/4934" ref="tree=MeSH" title="MedGen record for Cephalocele">Cephalocele</a></span></li><li><span class="TLline"><a href="/medgen/2065" ref="tree=MeSH" title="MedGen record for Chiari malformation">Chiari malformation</a></span></li><li><span class="TLline"><a href="/medgen/1814386" ref="tree=MeSH" title="MedGen record for Closed neural tube defect">Closed neural tube defect</a></span></li><li><span class="TLline"><a href="/medgen/488957" ref="tree=MeSH" title="MedGen record for Congenital meningocele">Congenital meningocele</a></span></li><li><span class="TLline"><a href="/medgen/56290" ref="tree=MeSH" title="MedGen record for Craniorachischisis">Craniorachischisis</a></span></li><li><span class="TLline"><a href="/medgen/672791" ref="tree=MeSH" title="MedGen record for Holorachischisis">Holorachischisis</a></span></li><li><span class="TLline"><a href="/medgen/57756" ref="tree=MeSH" title="MedGen record for Iniencephaly">Iniencephaly</a></span></li><li><span class="TLline"><a href="/medgen/903577" ref="tree=MeSH" title="MedGen record for Meningohydroencephalocele">Meningohydroencephalocele</a></span></li><li><span class="TLline"><a href="/medgen/7538" ref="tree=MeSH" title="MedGen record for Myelomeningocele">Myelomeningocele</a></span></li><li><span class="TLline"><a href="/medgen/856010" ref="tree=MeSH" title="MedGen record for Neural tube defects, susceptibility to">Neural tube defects, susceptibility to</a></span></li><li><span class="TLline"><a href="/medgen/1814385" ref="tree=MeSH" title="MedGen record for Open neural tube defect">Open neural tube defect</a></span></li><li><span class="TLline"><a href="/medgen/107540" ref="tree=MeSH" title="MedGen record for Pentalogy of Cantrell">Pentalogy of Cantrell</a></span></li><li><span class="TLline"><a href="/medgen/38283" ref="tree=MeSH" title="MedGen record for Spina bifida">Spina bifida</a></span></li><li><span class="TLline"><a href="/medgen/87487" ref="tree=MeSH" title="MedGen record for Spinal dysraphism">Spinal dysraphism</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/892809" ref="tree=MeSH" title="MedGen record for Abnormal pyramidal tract morphology">Abnormal pyramidal tract morphology</a></span><ul><li><span class="TLline"><a href="/medgen/893081" ref="tree=MeSH" title="MedGen record for Abnormal corticospinal tract morphology">Abnormal corticospinal tract morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870252" ref="tree=MeSH" title="MedGen record for Corticospinal tract pallor">Corticospinal tract pallor</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/892345" ref="tree=MeSH" title="MedGen record for Abnormal spinal cord morphology">Abnormal spinal cord morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1671014" ref="tree=MeSH" title="MedGen record for Abnormal conus terminalis morphology">Abnormal conus terminalis morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1671004" ref="tree=MeSH" title="MedGen record for Conus terminalis arteriovenous malformation">Conus terminalis arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/36387" ref="tree=MeSH" title="MedGen record for Tethered cord">Tethered cord</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868962" ref="tree=MeSH" title="MedGen record for Abnormality of the dorsal column of the spinal cord">Abnormality of the dorsal column of the spinal cord</a></span><ul><li><span class="TLline"><a href="/medgen/870506" ref="tree=MeSH" title="MedGen record for Dorsal column degeneration">Dorsal column degeneration</a></span></li><li><span class="TLline"><a href="/medgen/355986" ref="tree=MeSH" title="MedGen record for Pallor of dorsal columns of the spinal cord">Pallor of dorsal columns of the spinal cord</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871173" ref="tree=MeSH" title="MedGen record for Abnormality of the spinocerebellar tracts">Abnormality of the spinocerebellar tracts</a></span><ul><li><span class="TLline"><a href="/medgen/401075" ref="tree=MeSH" title="MedGen record for Spinocerebellar tract degeneration">Spinocerebellar tract degeneration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868119" ref="tree=MeSH" title="MedGen record for Cervicomedullary schisis">Cervicomedullary schisis</a></span></li><li><span class="TLline"><a href="/medgen/896507" ref="tree=MeSH" title="MedGen record for Hyperintensity of MRI T2 signal of the spinal cord">Hyperintensity of MRI T2 signal of the spinal cord</a></span></li><li><span class="TLline"><a href="/medgen/1841722" ref="tree=MeSH" title="MedGen record for Spinal cord calcifications">Spinal cord calcifications</a></span></li><li><span class="TLline"><a href="/medgen/11549" ref="tree=MeSH" title="MedGen record for Spinal cord compression">Spinal cord compression</a></span><ul><li><span class="TLline"><a href="/medgen/167271" ref="tree=MeSH" title="MedGen record for Cervical cord compression">Cervical cord compression</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864289" ref="tree=MeSH" title="MedGen record for Spinal cord granuloma">Spinal cord granuloma</a></span></li><li><span class="TLline"><a href="/medgen/488805" ref="tree=MeSH" title="MedGen record for Spinal cord lesion">Spinal cord lesion</a></span><ul><li><span class="TLline"><a href="/medgen/451024" ref="tree=MeSH" title="MedGen record for Amyelia">Amyelia</a></span></li><li><span class="TLline"><a href="/medgen/867634" ref="tree=MeSH" title="MedGen record for Diastomatomyelia">Diastomatomyelia</a></span></li><li><span class="TLline"><a href="/medgen/451079" ref="tree=MeSH" title="MedGen record for Diplomyelia">Diplomyelia</a></span></li><li><span class="TLline"><a href="/medgen/450992" ref="tree=MeSH" title="MedGen record for Hydromyelia">Hydromyelia</a></span></li><li><span class="TLline"><a href="/medgen/21449" ref="tree=MeSH" title="MedGen record for Syringomyelia">Syringomyelia</a></span></li><li><span class="TLline"><a href="/medgen/867633" ref="tree=MeSH" title="MedGen record for Triplomyelia">Triplomyelia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841578" ref="tree=MeSH" title="MedGen record for Spinal cord xanthomatosis">Spinal cord xanthomatosis</a></span></li><li><span class="TLline"><a href="/medgen/576303" ref="tree=MeSH" title="MedGen record for Spinal extradural arachnoid cyst">Spinal extradural arachnoid cyst</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868371" ref="tree=MeSH" title="MedGen record for Abnormal subarachnoid space morphology">Abnormal subarachnoid space morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1863446" ref="tree=MeSH" title="MedGen record for Distortion of the anterior part of the interhemispheric fissure">Distortion of the anterior part of the interhemispheric fissure</a></span></li><li><span class="TLline"><a href="/medgen/866574" ref="tree=MeSH" title="MedGen record for Enlarged interhemispheric fissure">Enlarged interhemispheric fissure</a></span></li><li><span class="TLline"><a href="/medgen/339924" ref="tree=MeSH" title="MedGen record for Interhemispheric cyst">Interhemispheric cyst</a></span></li><li><span class="TLline"><a href="/medgen/11625" ref="tree=MeSH" title="MedGen record for Subarachnoid hemorrhage">Subarachnoid hemorrhage</a></span><ul><li><span class="TLline"><a href="/medgen/856649" ref="tree=MeSH" title="MedGen record for Subarachnoid Hemorrhage Related to Birth">Subarachnoid Hemorrhage Related to Birth</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/375826" ref="tree=MeSH" title="MedGen record for Widened subarachnoid space">Widened subarachnoid space</a></span><ul><li><span class="TLline"><a href="/medgen/868340" ref="tree=MeSH" title="MedGen record for Widened cerebellar subarachnoid space">Widened cerebellar subarachnoid space</a></span></li><li><span class="TLline"><a href="/medgen/868339" ref="tree=MeSH" title="MedGen record for Widened cerebral subarachnoid space">Widened cerebral subarachnoid space</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/324748" ref="tree=MeSH" title="MedGen record for Abnormality of neuronal migration">Abnormality of neuronal migration</a></span><ul><li><span class="TLline"><a href="/medgen/408200" ref="tree=MeSH" title="MedGen record for Classical Lissencephalies and Subcortical Band Heterotopias">Classical Lissencephalies and Subcortical Band Heterotopias</a></span></li><li><span class="TLline"><a href="/medgen/96562" ref="tree=MeSH" title="MedGen record for Cobblestone lissencephaly">Cobblestone lissencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/767571" ref="tree=MeSH" title="MedGen record for Cobblestone lissencephaly without muscular or ocular involvement">Cobblestone lissencephaly without muscular or ocular involvement</a></span></li><li><span class="TLline"><a href="/medgen/75553" ref="tree=MeSH" title="MedGen record for Walker-Warburg congenital muscular dystrophy">Walker-Warburg congenital muscular dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/452349" ref="tree=MeSH" title="MedGen record for Gray matter heterotopia">Gray matter heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/1766888" ref="tree=MeSH" title="MedGen record for Periventricular heterotopia">Periventricular heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/766245" ref="tree=MeSH" title="MedGen record for Subcortical heterotopia">Subcortical heterotopia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78604" ref="tree=MeSH" title="MedGen record for Lissencephaly">Lissencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/1693266" ref="tree=MeSH" title="MedGen record for 2-3-layered lissencephaly">2-3-layered lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1696793" ref="tree=MeSH" title="MedGen record for 6-layered lissencephaly">6-layered lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/361827" ref="tree=MeSH" title="MedGen record for Agyria">Agyria</a></span></li><li><span class="TLline"><a href="/medgen/98463" ref="tree=MeSH" title="MedGen record for Classic lissencephaly">Classic lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/344450" ref="tree=MeSH" title="MedGen record for Focal lissencephaly">Focal lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1657090" ref="tree=MeSH" title="MedGen record for Lissencephaly due to LIS1 mutation">Lissencephaly due to LIS1 mutation</a></span></li><li><span class="TLline"><a href="/medgen/930822" ref="tree=MeSH" title="MedGen record for Lissencephaly due to TUBA1A mutation">Lissencephaly due to TUBA1A mutation</a></span></li><li><span class="TLline"><a href="/medgen/369910" ref="tree=MeSH" title="MedGen record for Lissencephaly type 3">Lissencephaly type 3</a></span></li><li><span class="TLline"><a href="/medgen/1644310" ref="tree=MeSH" title="MedGen record for Lissencephaly type 1 due to doublecortin gene mutation">Lissencephaly type 1 due to doublecortin gene mutation</a></span></li><li><span class="TLline"><a href="/medgen/120579" ref="tree=MeSH" title="MedGen record for Macrogyria">Macrogyria</a></span></li><li><span class="TLline"><a href="/medgen/365439" ref="tree=MeSH" title="MedGen record for Microlissencephaly">Microlissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/78538" ref="tree=MeSH" title="MedGen record for Miller Dieker syndrome">Miller Dieker syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163213" ref="tree=MeSH" title="MedGen record for Norman-Roberts syndrome">Norman-Roberts syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1703812" ref="tree=MeSH" title="MedGen record for Unlayered lissencephaly">Unlayered lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/375832" ref="tree=MeSH" title="MedGen record for X-linked lissencephaly with abnormal genitalia">X-linked lissencephaly with abnormal genitalia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/358387" ref="tree=MeSH" title="MedGen record for Periventricular nodular heterotopia">Periventricular nodular heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/442882" ref="tree=MeSH" title="MedGen record for Chromosome 5Q14.3 deletion syndrome, distal">Chromosome 5Q14.3 deletion syndrome, distal</a></span></li><li><span class="TLline"><a href="/medgen/374963" ref="tree=MeSH" title="MedGen record for Heterotopia, periventricular, associated with chromosome 5P anomalies">Heterotopia, periventricular, associated with chromosome 5P anomalies</a></span></li><li><span class="TLline"><a href="/medgen/376309" ref="tree=MeSH" title="MedGen record for Heterotopia, periventricular, X-linked dominant">Heterotopia, periventricular, X-linked dominant</a></span></li><li><span class="TLline"><a href="/medgen/334110" ref="tree=MeSH" title="MedGen record for Periventricular heterotopia with microcephaly, autosomal recessive">Periventricular heterotopia with microcephaly, autosomal recessive</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1853" ref="tree=MeSH" title="MedGen record for Alzheimer disease">Alzheimer disease</a></span><ul><li><span class="TLline"><a href="/medgen/400197" ref="tree=MeSH" title="MedGen record for Alzheimer disease 2">Alzheimer disease 2</a></span></li><li><span class="TLline"><a href="/medgen/334304" ref="tree=MeSH" title="MedGen record for Alzheimer disease 3">Alzheimer disease 3</a></span></li><li><span class="TLline"><a href="/medgen/376072" ref="tree=MeSH" title="MedGen record for Alzheimer disease 4">Alzheimer disease 4</a></span></li><li><span class="TLline"><a href="/medgen/381362" ref="tree=MeSH" title="MedGen record for Alzheimer disease 6">Alzheimer disease 6</a></span></li><li><span class="TLline"><a href="/medgen/342907" ref="tree=MeSH" title="MedGen record for Alzheimer disease 7">Alzheimer disease 7</a></span></li><li><span class="TLline"><a href="/medgen/375956" ref="tree=MeSH" title="MedGen record for Alzheimer disease 8">Alzheimer disease 8</a></span></li><li><span class="TLline"><a href="/medgen/924255" ref="tree=MeSH" title="MedGen record for Alzheimer disease 9">Alzheimer disease 9</a></span></li><li><span class="TLline"><a href="/medgen/351228" ref="tree=MeSH" title="MedGen record for Alzheimer disease 10">Alzheimer disease 10</a></span></li><li><span class="TLline"><a href="/medgen/377886" ref="tree=MeSH" title="MedGen record for Alzheimer disease 11">Alzheimer disease 11</a></span></li><li><span class="TLline"><a href="/medgen/410013" ref="tree=MeSH" title="MedGen record for Alzheimer disease 12">Alzheimer disease 12</a></span></li><li><span class="TLline"><a href="/medgen/370835" ref="tree=MeSH" title="MedGen record for Alzheimer disease 13">Alzheimer disease 13</a></span></li><li><span class="TLline"><a href="/medgen/369666" ref="tree=MeSH" title="MedGen record for Alzheimer disease 14">Alzheimer disease 14</a></span></li><li><span class="TLline"><a href="/medgen/394384" ref="tree=MeSH" title="MedGen record for Alzheimer disease 16">Alzheimer disease 16</a></span></li><li><span class="TLline"><a href="/medgen/767366" ref="tree=MeSH" title="MedGen record for Alzheimer disease 17">Alzheimer disease 17</a></span></li><li><span class="TLline"><a href="/medgen/346983" ref="tree=MeSH" title="MedGen record for Alzheimer disease without neurofibrillary tangles">Alzheimer disease without neurofibrillary tangles</a></span></li><li><span class="TLline"><a href="/medgen/448010" ref="tree=MeSH" title="MedGen record for Early-onset autosomal dominant Alzheimer disease">Early-onset autosomal dominant Alzheimer disease</a></span><ul><li><span class="TLline"><a href="/medgen/354892" ref="tree=MeSH" title="MedGen record for Alzheimer disease type 1">Alzheimer disease type 1</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/871188" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving the central nervous system">Aplasia/Hypoplasia involving the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/870455" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving the corticospinal tracts">Aplasia/Hypoplasia involving the corticospinal tracts</a></span><ul><li><span class="TLline"><a href="/medgen/375336" ref="tree=MeSH" title="MedGen record for Corticospinal tract hypoplasia">Corticospinal tract hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870458" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the brainstem">Aplasia/Hypoplasia of the brainstem</a></span><ul><li><span class="TLline"><a href="/medgen/334226" ref="tree=MeSH" title="MedGen record for Hypoplasia of the brainstem">Hypoplasia of the brainstem</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/480852" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the cerebellum">Aplasia/Hypoplasia of the cerebellum</a></span><ul><li><span class="TLline"><a href="/medgen/340931" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the cerebellar vermis">Aplasia/Hypoplasia of the cerebellar vermis</a></span></li><li><span class="TLline"><a href="/medgen/868414" ref="tree=MeSH" title="MedGen record for Cerebellar agenesis">Cerebellar agenesis</a></span></li><li><span class="TLline"><a href="/medgen/120578" ref="tree=MeSH" title="MedGen record for Cerebellar hypoplasia">Cerebellar hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870456" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the cerebrum">Aplasia/Hypoplasia of the cerebrum</a></span><ul><li><span class="TLline"><a href="/medgen/140908" ref="tree=MeSH" title="MedGen record for Aprosencephaly">Aprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/98461" ref="tree=MeSH" title="MedGen record for Atelencephaly">Atelencephaly</a></span></li><li><span class="TLline"><a href="/medgen/343321" ref="tree=MeSH" title="MedGen record for Cerebral hypoplasia">Cerebral hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869180" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the optic tract">Aplasia/Hypoplasia of the optic tract</a></span><ul><li><span class="TLline"><a href="/medgen/869181" ref="tree=MeSH" title="MedGen record for Aplasia of the optic tract">Aplasia of the optic tract</a></span></li><li><span class="TLline"><a href="/medgen/347279" ref="tree=MeSH" title="MedGen record for Hypoplasia of the optic tract">Hypoplasia of the optic tract</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870457" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the pyramidal tract">Aplasia/Hypoplasia of the pyramidal tract</a></span><ul><li><span class="TLline"><a href="/medgen/867757" ref="tree=MeSH" title="MedGen record for Aplasia of the pyramidal tract">Aplasia of the pyramidal tract</a></span></li><li><span class="TLline"><a href="/medgen/342610" ref="tree=MeSH" title="MedGen record for Hypoplasia of the pyramidal tract">Hypoplasia of the pyramidal tract</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/347280" ref="tree=MeSH" title="MedGen record for Hypoplasia of olfactory tract">Hypoplasia of olfactory tract</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870453" ref="tree=MeSH" title="MedGen record for Atrophy/Degeneration affecting the central nervous system">Atrophy/Degeneration affecting the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/870454" ref="tree=MeSH" title="MedGen record for Atrophy/Degeneration affecting the brainstem">Atrophy/Degeneration affecting the brainstem</a></span></li><li><span class="TLline"><a href="/medgen/870451" ref="tree=MeSH" title="MedGen record for Atrophy/Degeneration involving the corticospinal tracts">Atrophy/Degeneration involving the corticospinal tracts</a></span><ul><li><span class="TLline"><a href="/medgen/325533" ref="tree=MeSH" title="MedGen record for Corticospinal tract atrophy">Corticospinal tract atrophy</a></span></li><li><span class="TLline"><a href="/medgen/375921" ref="tree=MeSH" title="MedGen record for Degeneration of the lateral corticospinal tracts">Degeneration of the lateral corticospinal tracts</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/375304" ref="tree=MeSH" title="MedGen record for Atrophy/Degeneration involving the spinal cord">Atrophy/Degeneration involving the spinal cord</a></span><ul><li><span class="TLline"><a href="/medgen/235592" ref="tree=MeSH" title="MedGen record for Atrophy of the spinal cord">Atrophy of the spinal cord</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/479317" ref="tree=MeSH" title="MedGen record for Central nervous system degeneration">Central nervous system degeneration</a></span></li><li><span class="TLline"><a href="/medgen/868772" ref="tree=MeSH" title="MedGen record for Increased cerebral lipofuscin">Increased cerebral lipofuscin</a></span><ul><li><span class="TLline"><a href="/medgen/347957" ref="tree=MeSH" title="MedGen record for Increased extraneuronal autofluorescent lipopigment">Increased extraneuronal autofluorescent lipopigment</a></span></li><li><span class="TLline"><a href="/medgen/892355" ref="tree=MeSH" title="MedGen record for Increased neuronal autofluorescent lipopigment">Increased neuronal autofluorescent lipopigment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870450" ref="tree=MeSH" title="MedGen record for Motor neuron atrophy">Motor neuron atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/274" ref="tree=MeSH" title="MedGen record for Amyotrophic lateral sclerosis">Amyotrophic lateral sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/375215" ref="tree=MeSH" title="MedGen record for Degeneration of anterior horn cells">Degeneration of anterior horn cells</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/17999" ref="tree=MeSH" title="MedGen record for Neurodegeneration">Neurodegeneration</a></span><ul><li><span class="TLline"><a href="/medgen/87168" ref="tree=MeSH" title="MedGen record for Granulovacuolar degeneration">Granulovacuolar degeneration</a></span></li><li><span class="TLline"><a href="/medgen/11217" ref="tree=MeSH" title="MedGen record for Nissl degeneration">Nissl degeneration</a></span></li><li><span class="TLline"><a href="/medgen/113144" ref="tree=MeSH" title="MedGen record for Subacute combined degeneration of spinal cord">Subacute combined degeneration of spinal cord</a></span></li><li><span class="TLline"><a href="/medgen/12132" ref="tree=MeSH" title="MedGen record for Wallerian degeneration">Wallerian degeneration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/342515" ref="tree=MeSH" title="MedGen record for Neuronal loss in central nervous system">Neuronal loss in central nervous system</a></span></li><li><span class="TLline"><a href="/medgen/83079" ref="tree=MeSH" title="MedGen record for Senile plaques">Senile plaques</a></span><ul><li><span class="TLline"><a href="/medgen/1374975" ref="tree=MeSH" title="MedGen record for Cotton wool plaques">Cotton wool plaques</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1815105" ref="tree=MeSH" title="MedGen record for Central nervous system axonal spheroid">Central nervous system axonal spheroid</a></span></li><li><span class="TLline"><a href="/medgen/138106" ref="tree=MeSH" title="MedGen record for Central nervous system cyst">Central nervous system cyst</a></span><ul><li><span class="TLline"><a href="/medgen/232037" ref="tree=MeSH" title="MedGen record for Central Nervous System Colloid Cyst">Central Nervous System Colloid Cyst</a></span><ul><li><span class="TLline"><a href="/medgen/231361" ref="tree=MeSH" title="MedGen record for Adult Third Ventricle Colloid Cyst">Adult Third Ventricle Colloid Cyst</a></span></li><li><span class="TLline"><a href="/medgen/232071" ref="tree=MeSH" title="MedGen record for Childhood Third Ventricle Colloid Cyst">Childhood Third Ventricle Colloid Cyst</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/163485" ref="tree=MeSH" title="MedGen record for Central Nervous System Epidermoid Cyst">Central Nervous System Epidermoid Cyst</a></span><ul><li><span class="TLline"><a href="/medgen/233857" ref="tree=MeSH" title="MedGen record for Pineal Gland Epidermoid Cyst">Pineal Gland Epidermoid Cyst</a></span></li><li><span class="TLline"><a href="/medgen/138107" ref="tree=MeSH" title="MedGen record for Spinal epidermoid cyst">Spinal epidermoid cyst</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57594" ref="tree=MeSH" title="MedGen record for Cerebral cyst">Cerebral cyst</a></span><ul><li><span class="TLline"><a href="/medgen/232348" ref="tree=MeSH" title="MedGen record for Childhood Cerebral Cyst">Childhood Cerebral Cyst</a></span></li><li><span class="TLline"><a href="/medgen/906044" ref="tree=MeSH" title="MedGen record for Porencephalic cyst">Porencephalic cyst</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87376" ref="tree=MeSH" title="MedGen record for Choroid plexus cyst">Choroid plexus cyst</a></span></li><li><span class="TLline"><a href="/medgen/137679" ref="tree=MeSH" title="MedGen record for Colloid cyst">Colloid cyst</a></span></li><li><span class="TLline"><a href="/medgen/272571" ref="tree=MeSH" title="MedGen record for Endodermal Cyst">Endodermal Cyst</a></span></li><li><span class="TLline"><a href="/medgen/90929" ref="tree=MeSH" title="MedGen record for Ependymal cyst">Ependymal cyst</a></span></li><li><span class="TLline"><a href="/medgen/232661" ref="tree=MeSH" title="MedGen record for Intracranial Colloid Cyst">Intracranial Colloid Cyst</a></span><ul><li><span class="TLline"><a href="/medgen/82744" ref="tree=MeSH" title="MedGen record for Colloid cyst of third ventricle">Colloid cyst of third ventricle</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866894" ref="tree=MeSH" title="MedGen record for Intracranial cystic lesion">Intracranial cystic lesion</a></span><ul><li><span class="TLline"><a href="/medgen/332402" ref="tree=MeSH" title="MedGen record for Basal ganglia cysts">Basal ganglia cysts</a></span></li><li><span class="TLline"><a href="/medgen/339835" ref="tree=MeSH" title="MedGen record for Cerebellar cyst">Cerebellar cyst</a></span></li><li><span class="TLline"><a href="/medgen/868643" ref="tree=MeSH" title="MedGen record for Intracranial dermoid cyst">Intracranial dermoid cyst</a></span></li><li><span class="TLline"><a href="/medgen/868644" ref="tree=MeSH" title="MedGen record for Intracranial epidermoid cyst">Intracranial epidermoid cyst</a></span></li><li><span class="TLline"><a href="/medgen/326980" ref="tree=MeSH" title="MedGen record for Periventricular cysts">Periventricular cysts</a></span></li><li><span class="TLline"><a href="/medgen/87441" ref="tree=MeSH" title="MedGen record for Pituitary gland cyst">Pituitary gland cyst</a></span></li><li><span class="TLline"><a href="/medgen/341753" ref="tree=MeSH" title="MedGen record for Posterior fossa cyst">Posterior fossa cyst</a></span></li><li><span class="TLline"><a href="/medgen/318876" ref="tree=MeSH" title="MedGen record for Subependymal cysts">Subependymal cysts</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/235227" ref="tree=MeSH" title="MedGen record for Intraspinal Cyst">Intraspinal Cyst</a></span><ul><li><span class="TLline"><a href="/medgen/82850" ref="tree=MeSH" title="MedGen record for Cyst of spinal meninges">Cyst of spinal meninges</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87578" ref="tree=MeSH" title="MedGen record for Meningeal cyst">Meningeal cyst</a></span></li><li><span class="TLline"><a href="/medgen/14343" ref="tree=MeSH" title="MedGen record for Neurenteric cyst">Neurenteric cyst</a></span><ul><li><span class="TLline"><a href="/medgen/894940" ref="tree=MeSH" title="MedGen record for Intracranial neurenteric cyst">Intracranial neurenteric cyst</a></span></li><li><span class="TLline"><a href="/medgen/895415" ref="tree=MeSH" title="MedGen record for Spinal neurenteric cyst">Spinal neurenteric cyst</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/105457" ref="tree=MeSH" title="MedGen record for Perineural cyst">Perineural cyst</a></span></li><li><span class="TLline"><a href="/medgen/235476" ref="tree=MeSH" title="MedGen record for Pineal cyst">Pineal cyst</a></span><ul><li><span class="TLline"><a href="/medgen/235477" ref="tree=MeSH" title="MedGen record for Pineal Gland Glial Cyst">Pineal Gland Glial Cyst</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/156245" ref="tree=MeSH" title="MedGen record for Rathke pouch cyst">Rathke pouch cyst</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_120612"><div><strong>Xeroderma pigmentosum, group F</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120612</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.">C0268140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120612">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355268"><div><strong>Microphthalmia with brain and digit anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355268</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.">C1864689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355268">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355853"><div><strong>Koolen-de Vries syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355853</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:">C1864871</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Koolen-de Vries syndrome (KdVS) is characterized by congenital malformations, developmental delay / intellectual disability, neonatal/childhood hypotonia, epilepsy, dysmorphisms, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability. Other findings include speech and language delay (100%), epilepsy (~33%), congenital heart defects (25%-50%), renal and urologic anomalies (25%-50%), and cryptorchidism. Behavior in most is described as friendly, amiable, and cooperative.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355853">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_408255"><div><strong>4p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408255</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.">C1956097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/408255">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_444010"><div><strong>Potocki-Lupski syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444010</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.">C2931246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Potocki-Lupski syndrome (PTLS) is characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental delay, later meeting criteria for moderate intellectual disability. Behaviorally, issues with attention, hyperactivity, withdrawal, and anxiety may be seen. Some individuals meet criteria for autism spectrum disorder. Medically, hypotonia, oropharyngeal dysphagia leading to failure to thrive, congenital heart disease, hypoglycemia associated with growth hormone deficiency, and mildly dysmorphic facial features are observed. Medical manifestations typically lead to identification of PTLS in infancy; however, those with only behavioral and cognitive manifestations may be identified in later childhood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/444010">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1726802"><div><strong>Chromosome 17q11.2 deletion syndrome, 1.4Mb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1726802</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.">C5401456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1726802">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_408255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">4p partial monosomy syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1726802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 17q11.2 deletion syndrome, 1.4Mb</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Koolen-de Vries syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355268" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia with brain and digit anomalies</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Potocki-Lupski syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120612" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum, group F</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/35331309">Current clinical management of constitutional delay of growth and puberty.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gaudino R,
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De Filippo G,
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Bozzola E,
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Gasparri M,
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Bozzola M,
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Villani A,
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Radetti G</span><br />
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<span class="medgenPMjournal">Ital J Pediatr</span>
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2022 Mar 24;48(1):45.
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doi: 10.1186/s13052-022-01242-5.
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<span class="bold">PMID: </span><a href="/pubmed/35331309" target="_blank">35331309</a><a href="/pmc/articles/PMC8944060" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19780807">Management of mitochondrial stroke-like-episodes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
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<span class="medgenPMjournal">Eur J Neurol</span>
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2009 Nov;16(11):1178-84.
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Epub 2009 Sep 23
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doi: 10.1111/j.1468-1331.2009.02789.x.
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<span class="bold">PMID: </span><a href="/pubmed/19780807" target="_blank">19780807</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11589314">A new classification of malformations of the nervous system: an integration of morphological and molecular genetic criteria as patterns of genetic expression.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sarnat HB,
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Flores-Sarnat L</span><br />
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<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
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2001;5(2):57-64.
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doi: 10.1053/ejpn.2001.0466.
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<span class="bold">PMID: </span><a href="/pubmed/11589314" target="_blank">11589314</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(morphological%20central%20nervous%20system%20abnormality)%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 (47)</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/31704113">Glial cells in schizophrenia: a unified hypothesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietz AG,
|
||
Goldman SA,
|
||
Nedergaard M</span><br />
|
||
<span class="medgenPMjournal">Lancet Psychiatry</span>
|
||
2020 Mar;7(3):272-281.
|
||
Epub 2019 Nov 6
|
||
doi: 10.1016/S2215-0366(19)30302-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31704113" target="_blank">31704113</a><a href="/pmc/articles/PMC7267935" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30963251">An update on the central nervous system manifestations of neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nix JS,
|
||
Blakeley J,
|
||
Rodriguez FJ</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2020 Apr;139(4):625-641.
|
||
Epub 2019 Apr 8
|
||
doi: 10.1007/s00401-019-02002-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30963251" target="_blank">30963251</a><a href="/pmc/articles/PMC6819239" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30516692">Tubulinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gonçalves FG,
|
||
Freddi TAL,
|
||
Taranath A,
|
||
Lakshmanan R,
|
||
Goetti R,
|
||
Feltrin FS,
|
||
Mankad K,
|
||
Teixeira SR,
|
||
Hanagandi PB,
|
||
Arrigoni F</span><br />
|
||
<span class="medgenPMjournal">Top Magn Reson Imaging</span>
|
||
2018 Dec;27(6):395-408.
|
||
doi: 10.1097/RMR.0000000000000188.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30516692" target="_blank">30516692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27050382">Neuroradiological findings in hypogonadotropic hypogonadism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salvalaggio A,
|
||
Elefante A,
|
||
Manara R</span><br />
|
||
<span class="medgenPMjournal">Minerva Endocrinol</span>
|
||
2016 Jun;41(2):211-22.
|
||
Epub 2016 Apr 6
|
||
<span class="bold">PMID: </span><a href="/pubmed/27050382" target="_blank">27050382</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25032496">Neural tube defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greene ND,
|
||
Copp AJ</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Neurosci</span>
|
||
2014;37:221-42.
|
||
doi: 10.1146/annurev-neuro-062012-170354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25032496" target="_blank">25032496</a><a href="/pmc/articles/PMC4486472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Morphological%20central%20nervous%20system%20abnormality%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 (1016)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35331309">Current clinical management of constitutional delay of growth and puberty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaudino R,
|
||
De Filippo G,
|
||
Bozzola E,
|
||
Gasparri M,
|
||
Bozzola M,
|
||
Villani A,
|
||
Radetti G</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2022 Mar 24;48(1):45.
|
||
doi: 10.1186/s13052-022-01242-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35331309" target="_blank">35331309</a><a href="/pmc/articles/PMC8944060" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30963251">An update on the central nervous system manifestations of neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nix JS,
|
||
Blakeley J,
|
||
Rodriguez FJ</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2020 Apr;139(4):625-641.
|
||
Epub 2019 Apr 8
|
||
doi: 10.1007/s00401-019-02002-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30963251" target="_blank">30963251</a><a href="/pmc/articles/PMC6819239" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25213662">Giant axonal neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vijaykumar K,
|
||
Bindu PS,
|
||
Taly AB,
|
||
Mahadevan A,
|
||
Bharath RD,
|
||
Gayathri N,
|
||
Nagappa M,
|
||
Sinha S</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2015 Jun;30(7):912-5.
|
||
Epub 2014 Sep 11
|
||
doi: 10.1177/0883073814547721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25213662" target="_blank">25213662</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25032496">Neural tube defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greene ND,
|
||
Copp AJ</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Neurosci</span>
|
||
2014;37:221-42.
|
||
doi: 10.1146/annurev-neuro-062012-170354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25032496" target="_blank">25032496</a><a href="/pmc/articles/PMC4486472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/397413">Congenital hypotonia revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brooke MH,
|
||
Carroll JE,
|
||
Ringel SP</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
1979 Mar-Apr;2(2):84-100.
|
||
doi: 10.1002/mus.880020203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/397413" target="_blank">397413</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Morphological%20central%20nervous%20system%20abnormality%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 (969)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33477371">Pathological Mechanisms of Bortezomib-Induced Peripheral Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamoto S,
|
||
Egashira N</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Jan 17;22(2)
|
||
doi: 10.3390/ijms22020888.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33477371" target="_blank">33477371</a><a href="/pmc/articles/PMC7830235" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28196954">Metformin and thyroid disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meng X,
|
||
Xu S,
|
||
Chen G,
|
||
Derwahl M,
|
||
Liu C</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol</span>
|
||
2017 Apr;233(1):R43-R51.
|
||
Epub 2017 Feb 14
|
||
doi: 10.1530/JOE-16-0450.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28196954" target="_blank">28196954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25032496">Neural tube defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greene ND,
|
||
Copp AJ</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Neurosci</span>
|
||
2014;37:221-42.
|
||
doi: 10.1146/annurev-neuro-062012-170354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25032496" target="_blank">25032496</a><a href="/pmc/articles/PMC4486472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19782411">Molecular dissection of reactive astrogliosis and glial scar formation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sofroniew MV</span><br />
|
||
<span class="medgenPMjournal">Trends Neurosci</span>
|
||
2009 Dec;32(12):638-47.
|
||
Epub 2009 Sep 24
|
||
doi: 10.1016/j.tins.2009.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19782411" target="_blank">19782411</a><a href="/pmc/articles/PMC2787735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17006758">Possible mechanisms of neurodegeneration in schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Neri I,
|
||
Ramírez-Bermúdez J,
|
||
Montes S,
|
||
Ríos C</span><br />
|
||
<span class="medgenPMjournal">Neurochem Res</span>
|
||
2006 Oct;31(10):1279-94.
|
||
Epub 2006 Sep 28
|
||
doi: 10.1007/s11064-006-9162-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17006758" target="_blank">17006758</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Morphological%20central%20nervous%20system%20abnormality%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 (272)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30843003">More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pianou NK,
|
||
Stavrou PZ,
|
||
Vlontzou E,
|
||
Rondogianni P,
|
||
Exarhos DN,
|
||
Datseris IE</span><br />
|
||
<span class="medgenPMjournal">Hell J Nucl Med</span>
|
||
2019 Jan-Apr;22(1):6-9.
|
||
Epub 2019 Mar 7
|
||
doi: 10.1967/s002449910952.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30843003" target="_blank">30843003</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17140292">Neurosonography in the second half of fetal life: a neonatologist's point of view.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amiel-Tison C,
|
||
Gosselin J,
|
||
Kurjak A</span><br />
|
||
<span class="medgenPMjournal">J Perinat Med</span>
|
||
2006;34(6):437-46.
|
||
doi: 10.1515/JPM.2006.088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17140292" target="_blank">17140292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17006758">Possible mechanisms of neurodegeneration in schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Neri I,
|
||
Ramírez-Bermúdez J,
|
||
Montes S,
|
||
Ríos C</span><br />
|
||
<span class="medgenPMjournal">Neurochem Res</span>
|
||
2006 Oct;31(10):1279-94.
|
||
Epub 2006 Sep 28
|
||
doi: 10.1007/s11064-006-9162-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17006758" target="_blank">17006758</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9068885">Epilepsy surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wieser HG</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Neurol</span>
|
||
1996 Dec;5(4):849-75.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9068885" target="_blank">9068885</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8656712">Magnetic resonance imaging in epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jack CR Jr</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
1996 Jul;71(7):695-711.
|
||
doi: 10.1016/S0025-6196(11)63008-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8656712" target="_blank">8656712</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Morphological%20central%20nervous%20system%20abnormality%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 (431)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39160281">White matter brain-age in diverse forms of epilepsy and interictal psychosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sone D,
|
||
Beheshti I,
|
||
Shigemoto Y,
|
||
Kimura Y,
|
||
Sato N,
|
||
Matsuda H</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Aug 19;14(1):19156.
|
||
doi: 10.1038/s41598-024-70313-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39160281" target="_blank">39160281</a><a href="/pmc/articles/PMC11333615" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35285332">Impact of Congenital Heart Defects on the Developing Brain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xavier N,
|
||
Mubina J,
|
||
Marie-Ange D,
|
||
Nicolas VD,
|
||
Dorothée DS,
|
||
Catherine FB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2022 Jul-Aug;25(4):419-434.
|
||
Epub 2022 Mar 12
|
||
doi: 10.1177/10935266211045365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35285332" target="_blank">35285332</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31634787">Associations between brain structural networks and neurological soft signs in healthy adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang X,
|
||
Herold CJ,
|
||
Kong L,
|
||
Schroeder J</span><br />
|
||
<span class="medgenPMjournal">Psychiatry Res Neuroimaging</span>
|
||
2019 Nov 30;293:110989.
|
||
Epub 2019 Oct 12
|
||
doi: 10.1016/j.pscychresns.2019.110989.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31634787" target="_blank">31634787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9551491">The neuroanatomy and neurochemistry of schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weickert CS,
|
||
Kleinman JE</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Clin North Am</span>
|
||
1998 Mar;21(1):57-75.
|
||
doi: 10.1016/s0193-953x(05)70361-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9551491" target="_blank">9551491</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7566445">The neuropathology of Rett syndrome--overview 1994.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Armstrong DD</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1995 Apr;26(2):100-4.
|
||
doi: 10.1055/s-2007-979736.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7566445" target="_blank">7566445</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Morphological%20central%20nervous%20system%20abnormality%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 (910)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/38253437">Heterogeneous Brain Abnormalities in Schizophrenia Converge on a Common Network Associated With Symptom Remission.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Yang Y,
|
||
Xu W,
|
||
Yao X,
|
||
Xie X,
|
||
Zhang L,
|
||
Sun J,
|
||
Wang L,
|
||
Hua Q,
|
||
He K,
|
||
Tian Y,
|
||
Wang K,
|
||
Ji GJ</span><br />
|
||
<span class="medgenPMjournal">Schizophr Bull</span>
|
||
2024 Apr 30;50(3):545-556.
|
||
doi: 10.1093/schbul/sbae003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38253437" target="_blank">38253437</a><a href="/pmc/articles/PMC11059819" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/35533776">The effect of polygenic risk scores for major depressive disorder, bipolar disorder and schizophrenia on morphological brain measures: A systematic review of the evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cattarinussi G,
|
||
Delvecchio G,
|
||
Sambataro F,
|
||
Brambilla P</span><br />
|
||
<span class="medgenPMjournal">J Affect Disord</span>
|
||
2022 Aug 1;310:213-222.
|
||
Epub 2022 May 6
|
||
doi: 10.1016/j.jad.2022.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35533776" target="_blank">35533776</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32201890">Central Nervous System Reorganization and Pain After Spinal Cord Injury: Possible Targets for Physical Therapy-A Systematic Review of Neuroimaging Studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osinski T,
|
||
Acapo S,
|
||
Bensmail D,
|
||
Bouhassira D,
|
||
Martinez V</span><br />
|
||
<span class="medgenPMjournal">Phys Ther</span>
|
||
2020 Jun 23;100(6):946-962.
|
||
doi: 10.1093/ptj/pzaa043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32201890" target="_blank">32201890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31027677">Motoric cognitive risk syndrome, incident cognitive impairment and morphological brain abnormalities: Systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sekhon H,
|
||
Allali G,
|
||
Launay CP,
|
||
Barden J,
|
||
Szturm T,
|
||
Liu-Ambrose T,
|
||
Chester VL,
|
||
Wong CH,
|
||
Beauchet O;
|
||
Canadian Gait Consortium</span><br />
|
||
<span class="medgenPMjournal">Maturitas</span>
|
||
2019 May;123:45-54.
|
||
Epub 2019 Feb 18
|
||
doi: 10.1016/j.maturitas.2019.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31027677" target="_blank">31027677</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/27000827">Intra-Renal Hemodynamic Changes After Habitual Physical Activity in Patients with Chronic Kidney Disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaltsatou A,
|
||
Karatzaferi C,
|
||
Mitrou GI,
|
||
Poulianiti KP,
|
||
Sakkas GK</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2016;22(24):3700-14.
|
||
doi: 10.2174/1381612822666160322144936.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27000827" target="_blank">27000827</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Morphological%20central%20nervous%20system%20abnormality%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (22)</a></div></div>
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