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<!--
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UID=105425
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ConceptID=C0497552
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the nervous system</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105425</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.">C0497552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Congenital nervous system disorder</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital anomaly of nervous system (88425004); Congenital disease of nervous system (88425004); Congenital lesion of nervous system (88425004); Congenital deformity of nervous system (88425004); Congenital malformation of the nervous system (88425004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000707">HP:0000707</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0002320" target="_blank">MONDO:0002320</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">An abnormality of the 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>
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<div class="portlet mgSection" id="ID_118">
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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">Abnormality of the nervous system</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="matched_ds">Abnormality of the nervous system</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="TLline"><a href="/medgen/892700" ref="tree=MeSH" title="MedGen record for Abnormal ganglion morphology">Abnormal ganglion morphology</a></span><ul><li><span class="TLline"><a href="/medgen/893012" ref="tree=MeSH" title="MedGen record for Abnormal cranial ganglion morphology">Abnormal cranial ganglion morphology</a></span></li><li><span class="TLline"><a href="/medgen/893149" ref="tree=MeSH" title="MedGen record for Abnormal peripheral nervous system ganglion morphology">Abnormal peripheral nervous system ganglion morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867607" ref="tree=MeSH" title="MedGen record for Abnormal glial cell morphology">Abnormal glial cell morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867605" ref="tree=MeSH" title="MedGen record for Abnormal astrocyte morphology">Abnormal astrocyte morphology</a></span></li><li><span class="TLline"><a href="/medgen/867604" ref="tree=MeSH" title="MedGen record for Abnormal microglia morphology">Abnormal microglia morphology</a></span></li><li><span class="TLline"><a href="/medgen/867606" ref="tree=MeSH" title="MedGen record for Abnormal oligodendroglia morphology">Abnormal oligodendroglia morphology</a></span></li><li><span class="TLline"><a href="/medgen/1741566" ref="tree=MeSH" title="MedGen record for Abnormal Schwann cell morphology">Abnormal Schwann cell morphology</a></span></li><li><span class="TLline"><a href="/medgen/4899" ref="tree=MeSH" title="MedGen record for Gliosis">Gliosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/347527" ref="tree=MeSH" title="MedGen record for Abnormal myelination">Abnormal myelination</a></span><ul><li><span class="TLline"><a href="/medgen/866800" ref="tree=MeSH" title="MedGen record for Abnormal CNS myelination">Abnormal CNS myelination</a></span></li><li><span class="TLline"><a href="/medgen/871174" ref="tree=MeSH" title="MedGen record for Abnormal peripheral myelination">Abnormal peripheral myelination</a></span></li><li><span class="TLline"><a href="/medgen/224820" ref="tree=MeSH" title="MedGen record for Delayed myelination">Delayed myelination</a></span></li><li><span class="TLline"><a href="/medgen/82859" ref="tree=MeSH" title="MedGen record for Demyelinating peripheral neuropathy">Demyelinating peripheral neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/870461" ref="tree=MeSH" title="MedGen record for Mixed demyelinating and axonal polyneuropathy">Mixed demyelinating and axonal polyneuropathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868345" ref="tree=MeSH" title="MedGen record for Abnormal neuron morphology">Abnormal neuron morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871226" ref="tree=MeSH" title="MedGen record for Abnormal motor neuron morphology">Abnormal motor neuron morphology</a></span></li><li><span class="TLline"><a href="/medgen/1383206" ref="tree=MeSH" title="MedGen record for Abnormal neuron branching">Abnormal neuron branching</a></span></li><li><span class="TLline"><a href="/medgen/479704" ref="tree=MeSH" title="MedGen record for Axonal spheroids">Axonal spheroids</a></span></li><li><span class="TLline"><a href="/medgen/1053951" ref="tree=MeSH" title="MedGen record for Eosinophilic neuronal inclusion bodies">Eosinophilic neuronal inclusion bodies</a></span></li><li><span class="TLline"><a href="/medgen/937793" ref="tree=MeSH" title="MedGen record for Multinucleated neuron">Multinucleated neuron</a></span></li><li><span class="TLline"><a href="/medgen/393211" ref="tree=MeSH" title="MedGen record for Neurite dystrophy">Neurite dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1864206" ref="tree=MeSH" title="MedGen record for Neuronal intranuclear inclusion bodies">Neuronal intranuclear inclusion bodies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892389" ref="tree=MeSH" title="MedGen record for Abnormal peripheral nervous system morphology">Abnormal peripheral nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/344302" ref="tree=MeSH" title="MedGen record for Abnormal cranial nerve morphology">Abnormal cranial nerve morphology</a></span></li><li><span class="TLline"><a href="/medgen/1841528" ref="tree=MeSH" title="MedGen record for Abnormal peripheral nerve morphology by anatomical site">Abnormal peripheral nerve morphology by anatomical site</a></span></li><li><span class="TLline"><a href="/medgen/871144" ref="tree=MeSH" title="MedGen record for Decreased size of nerve terminals">Decreased size of nerve terminals</a></span></li><li><span class="TLline"><a href="/medgen/356274" ref="tree=MeSH" title="MedGen record for Diffuse axonal swelling">Diffuse axonal swelling</a></span></li><li><span class="TLline"><a href="/medgen/871184" ref="tree=MeSH" title="MedGen record for Enhanced neurotoxicity of vincristine">Enhanced neurotoxicity of vincristine</a></span></li><li><span class="TLline"><a href="/medgen/390701" ref="tree=MeSH" title="MedGen record for Enlarged peripheral nerve">Enlarged peripheral nerve</a></span></li><li><span class="TLline"><a href="/medgen/322038" ref="tree=MeSH" title="MedGen record for Hypertrophic nerve changes">Hypertrophic nerve changes</a></span></li><li><span class="TLline"><a href="/medgen/1057425" ref="tree=MeSH" title="MedGen record for Increased peripheral nerve cross sectional area">Increased peripheral nerve cross sectional area</a></span></li><li><span class="TLline"><a href="/medgen/1863973" ref="tree=MeSH" title="MedGen record for Metachromatic intraneuronal lipid deposits">Metachromatic intraneuronal lipid deposits</a></span></li><li><span class="TLline"><a href="/medgen/1382316" ref="tree=MeSH" title="MedGen record for Minifascicle formation">Minifascicle formation</a></span></li><li><span class="TLline"><a href="/medgen/14344" ref="tree=MeSH" title="MedGen record for Neuritis">Neuritis</a></span></li><li><span class="TLline"><a href="/medgen/1841980" ref="tree=MeSH" title="MedGen record for Peripheral axon spheroid formation">Peripheral axon spheroid formation</a></span></li><li><span class="TLline"><a href="/medgen/871339" ref="tree=MeSH" title="MedGen record for Peripheral axonal degeneration">Peripheral axonal degeneration</a></span></li><li><span class="TLline"><a href="/medgen/1841985" ref="tree=MeSH" title="MedGen record for Peripheral axonal distension">Peripheral axonal distension</a></span></li><li><span class="TLline"><a href="/medgen/343565" ref="tree=MeSH" title="MedGen record for Peripheral nerve compression">Peripheral nerve compression</a></span></li><li><span class="TLline"><a href="/medgen/1841731" ref="tree=MeSH" title="MedGen record for Peripheral nerve polyglucosan inclusion bodies">Peripheral nerve polyglucosan inclusion bodies</a></span></li><li><span class="TLline"><a href="/medgen/1841878" ref="tree=MeSH" title="MedGen record for Reduced intraepidermal small nerve fiber density">Reduced intraepidermal small nerve fiber density</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></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></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></li><li><span class="TLline"><a href="/medgen/869332" ref="tree=MeSH" title="MedGen record for Abnormal meningeal morphology">Abnormal meningeal morphology</a></span></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></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></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></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></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></li><li><span class="TLline"><a href="/medgen/1853" ref="tree=MeSH" title="MedGen record for Alzheimer disease">Alzheimer disease</a></span></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></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></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></li></ul></li><li><span class="TLline"><a href="/medgen/45046" ref="tree=MeSH" title="MedGen record for Neoplasm of the nervous system">Neoplasm of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/3263" ref="tree=MeSH" title="MedGen record for Cranial nerve neoplasm">Cranial nerve neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/99231" ref="tree=MeSH" title="MedGen record for Malignant neoplasm of nervous system">Malignant neoplasm of nervous system</a></span></li><li><span class="TLline"><a href="/medgen/88335" ref="tree=MeSH" title="MedGen record for Neoplasm of the central nervous system">Neoplasm of the central nervous system</a></span></li><li><span class="TLline"><a href="/medgen/45817" ref="tree=MeSH" title="MedGen record for Neoplasm of the peripheral nervous system">Neoplasm of the peripheral nervous system</a></span></li><li><span class="TLline"><a href="/medgen/233753" ref="tree=MeSH" title="MedGen record for Nerve root neoplasm">Nerve root neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/99232" ref="tree=MeSH" title="MedGen record for Nervous system benign neoplasm">Nervous system benign neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/277412" ref="tree=MeSH" title="MedGen record for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm">Neuroepithelial, Perineurial, and Schwann Cell Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1642312" ref="tree=MeSH" title="MedGen record for Neurolymphomatosis">Neurolymphomatosis</a></span></li><li><span class="TLline"><a href="/medgen/155656" ref="tree=MeSH" title="MedGen record for Paraneoplastic neurologic syndrome">Paraneoplastic neurologic syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868940" ref="tree=MeSH" title="MedGen record for Abnormal central motor function">Abnormal central motor function</a></span><ul><li><span class="TLline"><a href="/medgen/868654" ref="tree=MeSH" title="MedGen record for Abnormality of central motor conduction">Abnormality of central motor conduction</a></span></li><li><span class="TLline"><a href="/medgen/868939" ref="tree=MeSH" title="MedGen record for Abnormality of coordination">Abnormality of coordination</a></span></li><li><span class="TLline"><a href="/medgen/115941" ref="tree=MeSH" title="MedGen record for Abnormality of extrapyramidal motor function">Abnormality of extrapyramidal motor function</a></span></li><li><span class="TLline"><a href="/medgen/8166" ref="tree=MeSH" title="MedGen record for Apraxia">Apraxia</a></span></li><li><span class="TLline"><a href="/medgen/2862" ref="tree=MeSH" title="MedGen record for Cataplexy">Cataplexy</a></span></li><li><span class="TLline"><a href="/medgen/1053170" ref="tree=MeSH" title="MedGen record for crossed brainstem sign">crossed brainstem sign</a></span></li><li><span class="TLline"><a href="/medgen/1813865" ref="tree=MeSH" title="MedGen record for Involuntary vocalization">Involuntary vocalization</a></span></li><li><span class="TLline"><a href="/medgen/105510" ref="tree=MeSH" title="MedGen record for Paralysis">Paralysis</a></span></li><li><span class="TLline"><a href="/medgen/333241" ref="tree=MeSH" title="MedGen record for Upper motor neuron dysfunction">Upper motor neuron dysfunction</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868805" ref="tree=MeSH" title="MedGen record for Abnormal central sensory function">Abnormal central sensory function</a></span><ul><li><span class="TLline"><a href="/medgen/488967" ref="tree=MeSH" title="MedGen record for Agraphesthesia">Agraphesthesia</a></span></li><li><span class="TLline"><a href="/medgen/866769" ref="tree=MeSH" title="MedGen record for Impaired touch localization">Impaired touch localization</a></span></li><li><span class="TLline"><a href="/medgen/868773" ref="tree=MeSH" title="MedGen record for Impaired two-point discrimination">Impaired two-point discrimination</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1671020" ref="tree=MeSH" title="MedGen record for Abnormal cranial nerve physiology">Abnormal cranial nerve physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1670964" ref="tree=MeSH" title="MedGen record for Abnormal fifth cranial nerve physiology">Abnormal fifth cranial nerve physiology</a></span></li><li><span class="TLline"><a href="/medgen/866868" ref="tree=MeSH" title="MedGen record for Abnormal seventh cranial physiology">Abnormal seventh cranial physiology</a></span></li><li><span class="TLline"><a href="/medgen/57717" ref="tree=MeSH" title="MedGen record for Cranial nerve paralysis">Cranial nerve paralysis</a></span></li><li><span class="TLline"><a href="/medgen/396279" ref="tree=MeSH" title="MedGen record for Gustatory lacrimation">Gustatory lacrimation</a></span></li><li><span class="TLline"><a href="/medgen/1705680" ref="tree=MeSH" title="MedGen record for Lower cranial nerve dysfunction">Lower cranial nerve dysfunction</a></span></li><li><span class="TLline"><a href="/medgen/57605" ref="tree=MeSH" title="MedGen record for Vestibular nystagmus">Vestibular nystagmus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868569" ref="tree=MeSH" title="MedGen record for Abnormal hypothalamus physiology">Abnormal hypothalamus physiology</a></span><ul><li><span class="TLline"><a href="/medgen/113137" ref="tree=MeSH" title="MedGen record for Hypothalamic hypothyroidism">Hypothalamic hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/868568" ref="tree=MeSH" title="MedGen record for Hypothalamic luteinizing hormone-releasing hormone deficiency">Hypothalamic luteinizing hormone-releasing hormone deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867410" ref="tree=MeSH" title="MedGen record for Abnormal nervous system electrophysiology">Abnormal nervous system electrophysiology</a></span><ul><li><span class="TLline"><a href="/medgen/868205" ref="tree=MeSH" title="MedGen record for Abnormality of central nervous system electrophysiology">Abnormality of central nervous system electrophysiology</a></span></li><li><span class="TLline"><a href="/medgen/1054282" ref="tree=MeSH" title="MedGen record for Local anesthetic ineffectiveness">Local anesthetic ineffectiveness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1842046" ref="tree=MeSH" title="MedGen record for Abnormal spinal cord physiology">Abnormal spinal cord physiology</a></span><ul><li><span class="TLline"><a href="/medgen/356397" ref="tree=MeSH" title="MedGen record for Long-tract sign">Long-tract sign</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866736" ref="tree=MeSH" title="MedGen record for Abnormal synaptic transmission">Abnormal synaptic transmission</a></span><ul><li><span class="TLline"><a href="/medgen/866699" ref="tree=MeSH" title="MedGen record for Abnormal peripheral nervous system synaptic transmission">Abnormal peripheral nervous system synaptic transmission</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868415" ref="tree=MeSH" title="MedGen record for Abnormality of intracranial pressure">Abnormality of intracranial pressure</a></span><ul><li><span class="TLline"><a href="/medgen/629644" ref="tree=MeSH" title="MedGen record for Decreased intracranial pressure">Decreased intracranial pressure</a></span></li><li><span class="TLline"><a href="/medgen/56241" ref="tree=MeSH" title="MedGen record for Increased intracranial pressure">Increased intracranial pressure</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/1056192" ref="tree=MeSH" title="MedGen record for Abnormal affect">Abnormal affect</a></span></li><li><span class="TLline"><a href="/medgen/1052794" ref="tree=MeSH" title="MedGen record for Abnormal cognitive process">Abnormal cognitive process</a></span></li><li><span class="TLline"><a href="/medgen/1853246" ref="tree=MeSH" title="MedGen record for Abnormal experience of reality">Abnormal experience of reality</a></span></li><li><span class="TLline"><a href="/medgen/14048" ref="tree=MeSH" title="MedGen record for Atypical behavior">Atypical behavior</a></span></li><li><span class="TLline"><a href="/medgen/90932" ref="tree=MeSH" title="MedGen record for Cognitive impairment">Cognitive impairment</a></span></li><li><span class="TLline"><a href="/medgen/66806" ref="tree=MeSH" title="MedGen record for Micrographia">Micrographia</a></span></li><li><span class="TLline"><a href="/medgen/482519" ref="tree=MeSH" title="MedGen record for Reduced consciousness">Reduced consciousness</a></span></li><li><span class="TLline"><a href="/medgen/52372" ref="tree=MeSH" title="MedGen record for Sleep abnormality">Sleep abnormality</a></span></li><li><span class="TLline"><a href="/medgen/115936" ref="tree=MeSH" title="MedGen record for Synesthesia">Synesthesia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867293" ref="tree=MeSH" title="MedGen record for Abnormality of the sense of smell">Abnormality of the sense of smell</a></span><ul><li><span class="TLline"><a href="/medgen/1950" ref="tree=MeSH" title="MedGen record for Anosmia">Anosmia</a></span></li><li><span class="TLline"><a href="/medgen/473584" ref="tree=MeSH" title="MedGen record for Hyposmia">Hyposmia</a></span></li><li><span class="TLline"><a href="/medgen/307133" ref="tree=MeSH" title="MedGen record for Parosmia">Parosmia</a></span></li><li><span class="TLline"><a href="/medgen/853733" ref="tree=MeSH" title="MedGen record for Phantosmia">Phantosmia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863449" ref="tree=MeSH" title="MedGen record for Autonomic-voluntary dissociation of facial movements">Autonomic-voluntary dissociation of facial movements</a></span></li><li><span class="TLline"><a href="/medgen/751376" ref="tree=MeSH" title="MedGen record for Brain imaging abnormality">Brain imaging abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/868405" ref="tree=MeSH" title="MedGen record for Abnormal brain positron emission tomography">Abnormal brain positron emission tomography</a></span></li><li><span class="TLline"><a href="/medgen/868370" ref="tree=MeSH" title="MedGen record for Abnormal metabolic brain imaging by MRS">Abnormal metabolic brain imaging by MRS</a></span></li><li><span class="TLline"><a href="/medgen/1056611" ref="tree=MeSH" title="MedGen record for Forward displacement of posterior cervical dura mater on neck flexion">Forward displacement of posterior cervical dura mater on neck flexion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/898626" ref="tree=MeSH" title="MedGen record for Bulbar palsy">Bulbar palsy</a></span></li><li><span class="TLline"><a href="/medgen/347246" ref="tree=MeSH" title="MedGen record for Bulbar signs">Bulbar signs</a></span></li><li><span class="TLline"><a href="/medgen/373253" ref="tree=MeSH" title="MedGen record for Easy fatigability">Easy fatigability</a></span></li><li><span class="TLline"><a href="/medgen/39314" ref="tree=MeSH" title="MedGen record for Encephalopathy">Encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/224930" ref="tree=MeSH" title="MedGen record for Acute encephalopathy">Acute encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/14213" ref="tree=MeSH" title="MedGen record for Chronic brain syndrome">Chronic brain syndrome</a></span></li><li><span class="TLline"><a href="/medgen/870471" ref="tree=MeSH" title="MedGen record for Congenital encephalopathy">Congenital encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/815608" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy 94">Developmental and epileptic encephalopathy 94</a></span></li><li><span class="TLline"><a href="/medgen/65124" ref="tree=MeSH" title="MedGen record for Dialysis dementia">Dialysis dementia</a></span></li><li><span class="TLline"><a href="/medgen/124373" ref="tree=MeSH" title="MedGen record for Early myoclonic encephalopathy">Early myoclonic encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/452596" ref="tree=MeSH" title="MedGen record for Epileptic encephalopathy">Epileptic encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/155625" ref="tree=MeSH" title="MedGen record for Glycine encephalopathy">Glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/5513" ref="tree=MeSH" title="MedGen record for Hepatic encephalopathy">Hepatic encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/57726" ref="tree=MeSH" title="MedGen record for Hypertensive encephalopathy">Hypertensive encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/101772" ref="tree=MeSH" title="MedGen record for Hypoglycemic encephalopathy">Hypoglycemic encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/156258" ref="tree=MeSH" title="MedGen record for Hypoxic Ischemic Encephalopathy">Hypoxic Ischemic Encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/343542" ref="tree=MeSH" title="MedGen record for Infantile encephalopathy">Infantile encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1637882" ref="tree=MeSH" title="MedGen record for Infantile epileptic dyskinetic encephalopathy">Infantile epileptic dyskinetic encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/342221" ref="tree=MeSH" title="MedGen record for Mitochondrial encephalopathy">Mitochondrial encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/853253" ref="tree=MeSH" title="MedGen record for Necrotizing encephalopathy">Necrotizing encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/536453" ref="tree=MeSH" title="MedGen record for Neonatal encephalopathy">Neonatal encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/870503" ref="tree=MeSH" title="MedGen record for Nonprogressive encephalopathy">Nonprogressive encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/56445" ref="tree=MeSH" title="MedGen record for Prion disease">Prion disease</a></span></li><li><span class="TLline"><a href="/medgen/333129" ref="tree=MeSH" title="MedGen record for Progressive encephalopathy">Progressive encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/376865" ref="tree=MeSH" title="MedGen record for Recurrent encephalopathy">Recurrent encephalopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9149" ref="tree=MeSH" title="MedGen record for Headache">Headache</a></span><ul><li><span class="TLline"><a href="/medgen/101089" ref="tree=MeSH" title="MedGen record for Benign exertional headache">Benign exertional headache</a></span></li><li><span class="TLline"><a href="/medgen/3503" ref="tree=MeSH" title="MedGen record for Cluster headache">Cluster headache</a></span></li><li><span class="TLline"><a href="/medgen/152960" ref="tree=MeSH" title="MedGen record for Cough headache syndrome">Cough headache syndrome</a></span></li><li><span class="TLline"><a href="/medgen/581558" ref="tree=MeSH" title="MedGen record for Headache due to external compression of head">Headache due to external compression of head</a></span></li><li><span class="TLline"><a href="/medgen/82851" ref="tree=MeSH" title="MedGen record for Headache following lumbar puncture">Headache following lumbar puncture</a></span></li><li><span class="TLline"><a href="/medgen/748511" ref="tree=MeSH" title="MedGen record for Hemicrania continua">Hemicrania continua</a></span></li><li><span class="TLline"><a href="/medgen/156012" ref="tree=MeSH" title="MedGen record for Hypnic headache">Hypnic headache</a></span></li><li><span class="TLline"><a href="/medgen/858160" ref="tree=MeSH" title="MedGen record for Lupus Headache">Lupus Headache</a></span></li><li><span class="TLline"><a href="/medgen/57451" ref="tree=MeSH" title="MedGen record for Migraine">Migraine</a></span></li><li><span class="TLline"><a href="/medgen/781253" ref="tree=MeSH" title="MedGen record for New daily persistent headache">New daily persistent headache</a></span></li><li><span class="TLline"><a href="/medgen/927617" ref="tree=MeSH" title="MedGen record for Recurrent paroxysmal headache">Recurrent paroxysmal headache</a></span></li><li><span class="TLline"><a href="/medgen/389221" ref="tree=MeSH" title="MedGen record for Slit ventricle syndrome">Slit ventricle syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18737" ref="tree=MeSH" title="MedGen record for Tension-type headache">Tension-type headache</a></span></li><li><span class="TLline"><a href="/medgen/105485" ref="tree=MeSH" title="MedGen record for Thunderclap headache">Thunderclap headache</a></span></li><li><span class="TLline"><a href="/medgen/52980" ref="tree=MeSH" title="MedGen record for Vascular headache">Vascular headache</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57499" ref="tree=MeSH" title="MedGen record for Hypocalcemic tetany">Hypocalcemic tetany</a></span></li><li><span class="TLline"><a href="/medgen/108397" ref="tree=MeSH" title="MedGen record for Lhermitte sign">Lhermitte sign</a></span></li><li><span class="TLline"><a href="/medgen/10113" ref="tree=MeSH" title="MedGen record for Movement disorder">Movement disorder</a></span><ul><li><span class="TLline"><a href="/medgen/96905" ref="tree=MeSH" title="MedGen record for Abnormal head movements">Abnormal head movements</a></span></li><li><span class="TLline"><a href="/medgen/66660" ref="tree=MeSH" title="MedGen record for Abnormal posturing">Abnormal posturing</a></span></li><li><span class="TLline"><a href="/medgen/19707" ref="tree=MeSH" title="MedGen record for Abnormal reflex">Abnormal reflex</a></span></li><li><span class="TLline"><a href="/medgen/58144" ref="tree=MeSH" title="MedGen record for Angelman syndrome">Angelman syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1630963" ref="tree=MeSH" title="MedGen record for Astasia">Astasia</a></span></li><li><span class="TLline"><a href="/medgen/115916" ref="tree=MeSH" title="MedGen record for Asterixis">Asterixis</a></span></li><li><span class="TLline"><a href="/medgen/854" ref="tree=MeSH" title="MedGen record for Cerebral palsy">Cerebral palsy</a></span></li><li><span class="TLline"><a href="/medgen/3420" ref="tree=MeSH" title="MedGen record for Chorea">Chorea</a></span></li><li><span class="TLline"><a href="/medgen/40301" ref="tree=MeSH" title="MedGen record for Chronic tic disorder">Chronic tic disorder</a></span></li><li><span class="TLline"><a href="/medgen/871229" ref="tree=MeSH" title="MedGen record for Diminished movement">Diminished movement</a></span></li><li><span class="TLline"><a href="/medgen/57937" ref="tree=MeSH" title="MedGen record for Drug-induced akathisia">Drug-induced akathisia</a></span></li><li><span class="TLline"><a href="/medgen/8514" ref="tree=MeSH" title="MedGen record for Dyskinesia">Dyskinesia</a></span></li><li><span class="TLline"><a href="/medgen/13945" ref="tree=MeSH" title="MedGen record for Dyssynergia">Dyssynergia</a></span></li><li><span class="TLline"><a href="/medgen/140732" ref="tree=MeSH" title="MedGen record for Dystonia">Dystonia</a></span></li><li><span class="TLline"><a href="/medgen/3940" ref="tree=MeSH" title="MedGen record for Dystonic disorder">Dystonic disorder</a></span></li><li><span class="TLline"><a href="/medgen/78725" ref="tree=MeSH" title="MedGen record for Essential tremor">Essential tremor</a></span></li><li><span class="TLline"><a href="/medgen/318834" ref="tree=MeSH" title="MedGen record for Frontal release signs">Frontal release signs</a></span></li><li><span class="TLline"><a href="/medgen/107895" ref="tree=MeSH" title="MedGen record for Gait disturbance">Gait disturbance</a></span></li><li><span class="TLline"><a href="/medgen/854367" ref="tree=MeSH" title="MedGen record for Hyperkinetic movements">Hyperkinetic movements</a></span></li><li><span class="TLline"><a href="/medgen/140884" ref="tree=MeSH" title="MedGen record for Involuntary movements">Involuntary movements</a></span></li><li><span class="TLline"><a href="/medgen/98276" ref="tree=MeSH" title="MedGen record for Multiple system atrophy">Multiple system atrophy</a></span></li><li><span class="TLline"><a href="/medgen/65418" ref="tree=MeSH" title="MedGen record for Muscle fibrillation">Muscle fibrillation</a></span></li><li><span class="TLline"><a href="/medgen/146882" ref="tree=MeSH" title="MedGen record for Myokymia">Myokymia</a></span></li><li><span class="TLline"><a href="/medgen/66079" ref="tree=MeSH" title="MedGen record for Parkinsonian disorder">Parkinsonian disorder</a></span></li><li><span class="TLline"><a href="/medgen/6708" ref="tree=MeSH" title="MedGen record for Pigmentary pallidal degeneration">Pigmentary pallidal degeneration</a></span></li><li><span class="TLline"><a href="/medgen/334529" ref="tree=MeSH" title="MedGen record for Postural instability">Postural instability</a></span></li><li><span class="TLline"><a href="/medgen/21026" ref="tree=MeSH" title="MedGen record for Progressive supranuclear palsy">Progressive supranuclear palsy</a></span></li><li><span class="TLline"><a href="/medgen/1393424" ref="tree=MeSH" title="MedGen record for Stooped posture">Stooped posture</a></span></li><li><span class="TLline"><a href="/medgen/68594" ref="tree=MeSH" title="MedGen record for Synkinesis">Synkinesis</a></span></li><li><span class="TLline"><a href="/medgen/21556" ref="tree=MeSH" title="MedGen record for Tic">Tic</a></span></li><li><span class="TLline"><a href="/medgen/21219" ref="tree=MeSH" title="MedGen record for Tourette syndrome">Tourette syndrome</a></span></li><li><span class="TLline"><a href="/medgen/856944" ref="tree=MeSH" title="MedGen record for Tourettism">Tourettism</a></span></li><li><span class="TLline"><a href="/medgen/52814" ref="tree=MeSH" title="MedGen record for Transient tic disorder">Transient tic disorder</a></span></li><li><span class="TLline"><a href="/medgen/42426" ref="tree=MeSH" title="MedGen record for Wilson disease">Wilson disease</a></span></li><li><span class="TLline"><a href="/medgen/326820" ref="tree=MeSH" title="MedGen record for X-linked dystonia-parkinsonism">X-linked dystonia-parkinsonism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868343" ref="tree=MeSH" title="MedGen record for Neurodevelopmental abnormality">Neurodevelopmental abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/324613" ref="tree=MeSH" title="MedGen record for Developmental regression">Developmental regression</a></span></li><li><span class="TLline"><a href="/medgen/341348" ref="tree=MeSH" title="MedGen record for Developmental stagnation">Developmental stagnation</a></span></li><li><span class="TLline"><a href="/medgen/811461" ref="tree=MeSH" title="MedGen record for Intellectual disability">Intellectual disability</a></span></li><li><span class="TLline"><a href="/medgen/868344" ref="tree=MeSH" title="MedGen record for Neurodevelopmental delay">Neurodevelopmental delay</a></span></li><li><span class="TLline"><a href="/medgen/871302" ref="tree=MeSH" title="MedGen record for Specific learning disability">Specific learning disability</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18386" ref="tree=MeSH" title="MedGen record for Peripheral neuropathy">Peripheral neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/401350" ref="tree=MeSH" title="MedGen record for Acute episodes of neuropathic symptoms">Acute episodes of neuropathic symptoms</a></span></li><li><span class="TLline"><a href="/medgen/871306" ref="tree=MeSH" title="MedGen record for Chronic sensorineural polyneuropathy">Chronic sensorineural polyneuropathy</a></span></li><li><span class="TLline"><a href="/medgen/870519" ref="tree=MeSH" title="MedGen record for Congenital peripheral neuropathy">Congenital peripheral neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/266933" ref="tree=MeSH" title="MedGen record for Entrapment neuropathy">Entrapment neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/338523" ref="tree=MeSH" title="MedGen record for Episodic peripheral neuropathy">Episodic peripheral neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/101790" ref="tree=MeSH" title="MedGen record for Mononeuritis multiplex">Mononeuritis multiplex</a></span></li><li><span class="TLline"><a href="/medgen/99214" ref="tree=MeSH" title="MedGen record for Mononeuropathy">Mononeuropathy</a></span></li><li><span class="TLline"><a href="/medgen/68610" ref="tree=MeSH" title="MedGen record for Motor nerve neuritis">Motor nerve neuritis</a></span></li><li><span class="TLline"><a href="/medgen/82885" ref="tree=MeSH" title="MedGen record for Motor polyneuropathy">Motor polyneuropathy</a></span></li><li><span class="TLline"><a href="/medgen/266071" ref="tree=MeSH" title="MedGen record for Peripheral axonal neuropathy">Peripheral axonal neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/57502" ref="tree=MeSH" title="MedGen record for Polyneuropathy">Polyneuropathy</a></span></li><li><span class="TLline"><a href="/medgen/347816" ref="tree=MeSH" title="MedGen record for Progressive peripheral neuropathy">Progressive peripheral neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/207266" ref="tree=MeSH" title="MedGen record for Sensorimotor neuropathy">Sensorimotor neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/870526" ref="tree=MeSH" title="MedGen record for Sensorimotor polyneuropathy affecting arms more than legs">Sensorimotor polyneuropathy affecting arms more than legs</a></span></li><li><span class="TLline"><a href="/medgen/101791" ref="tree=MeSH" title="MedGen record for Sensory neuropathy">Sensory neuropathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814206" ref="tree=MeSH" title="MedGen record for Perisylvian FDG hypermetabolism">Perisylvian FDG hypermetabolism</a></span></li><li><span class="TLline"><a href="/medgen/374006" ref="tree=MeSH" title="MedGen record for Pseudobulbar signs">Pseudobulbar signs</a></span><ul><li><span class="TLline"><a href="/medgen/747359" ref="tree=MeSH" title="MedGen record for Pseudobulbar affect">Pseudobulbar affect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20693" ref="tree=MeSH" title="MedGen record for Seizure">Seizure</a></span><ul><li><span class="TLline"><a href="/medgen/108446" ref="tree=MeSH" title="MedGen record for Alcohol-induced epilepsy">Alcohol-induced epilepsy</a></span></li><li><span class="TLline"><a href="/medgen/141670" ref="tree=MeSH" title="MedGen record for Bilateral tonic-clonic seizure">Bilateral tonic-clonic seizure</a></span></li><li><span class="TLline"><a href="/medgen/56212" ref="tree=MeSH" title="MedGen record for Complex Partial Seizure">Complex Partial Seizure</a></span></li><li><span class="TLline"><a href="/medgen/869097" ref="tree=MeSH" title="MedGen record for Dialeptic seizure">Dialeptic seizure</a></span></li><li><span class="TLline"><a href="/medgen/3232" ref="tree=MeSH" title="MedGen record for Febrile seizure (within the age range of 3 months to 6 years)">Febrile seizure (within the age range of 3 months to 6 years)</a></span></li><li><span class="TLline"><a href="/medgen/43984" ref="tree=MeSH" title="MedGen record for Focal onset aware motor onset Jacksonian epileptic seizure">Focal onset aware motor onset Jacksonian epileptic seizure</a></span></li><li><span class="TLline"><a href="/medgen/199670" ref="tree=MeSH" title="MedGen record for Focal-onset seizure">Focal-onset seizure</a></span></li><li><span class="TLline"><a href="/medgen/1385688" ref="tree=MeSH" title="MedGen record for Generalized non-motor (absence) seizure">Generalized non-motor (absence) seizure</a></span></li><li><span class="TLline"><a href="/medgen/115963" ref="tree=MeSH" title="MedGen record for Generalized-onset seizure">Generalized-onset seizure</a></span></li><li><span class="TLline"><a href="/medgen/1782123" ref="tree=MeSH" title="MedGen record for Grade 3 Seizure, ASTCT ICANS">Grade 3 Seizure, ASTCT ICANS</a></span></li><li><span class="TLline"><a href="/medgen/1780534" ref="tree=MeSH" title="MedGen record for Grade 4 Seizure, ASTCT ICANS">Grade 4 Seizure, ASTCT ICANS</a></span></li><li><span class="TLline"><a href="/medgen/854616" ref="tree=MeSH" title="MedGen record for Infantile spasms">Infantile spasms</a></span></li><li><span class="TLline"><a href="/medgen/1711430" ref="tree=MeSH" title="MedGen record for Infection-related seizure">Infection-related seizure</a></span></li><li><span class="TLline"><a href="/medgen/853749" ref="tree=MeSH" title="MedGen record for Migraine-Triggered Seizure">Migraine-Triggered Seizure</a></span></li><li><span class="TLline"><a href="/medgen/148322" ref="tree=MeSH" title="MedGen record for Motor seizure">Motor seizure</a></span></li><li><span class="TLline"><a href="/medgen/57864" ref="tree=MeSH" title="MedGen record for Neonatal seizure">Neonatal seizure</a></span></li><li><span class="TLline"><a href="/medgen/581539" ref="tree=MeSH" title="MedGen record for Nocturnal seizures">Nocturnal seizures</a></span></li><li><span class="TLline"><a href="/medgen/1792903" ref="tree=MeSH" title="MedGen record for Non-Febrile Seizure">Non-Febrile Seizure</a></span></li><li><span class="TLline"><a href="/medgen/1780546" ref="tree=MeSH" title="MedGen record for Non-motor seizure">Non-motor seizure</a></span></li><li><span class="TLline"><a href="/medgen/853160" ref="tree=MeSH" title="MedGen record for Psychogenic seizures">Psychogenic seizures</a></span></li><li><span class="TLline"><a href="/medgen/1704882" ref="tree=MeSH" title="MedGen record for Reflex seizure">Reflex seizure</a></span></li><li><span class="TLline"><a href="/medgen/11586" ref="tree=MeSH" title="MedGen record for Status epilepticus">Status epilepticus</a></span></li><li><span class="TLline"><a href="/medgen/199677" ref="tree=MeSH" title="MedGen record for Status epilepticus without prominent motor symptoms">Status epilepticus without prominent motor symptoms</a></span></li><li><span class="TLline"><a href="/medgen/869098" ref="tree=MeSH" title="MedGen record for Symptomatic seizures">Symptomatic seizures</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1790456" ref="tree=MeSH" title="MedGen record for Somatic sensory dysfunction">Somatic sensory dysfunction</a></span><ul><li><span class="TLline"><a href="/medgen/1779297" ref="tree=MeSH" title="MedGen record for Abnormal exteroceptive sensation">Abnormal exteroceptive sensation</a></span></li><li><span class="TLline"><a href="/medgen/451034" ref="tree=MeSH" title="MedGen record for Dissociated sensory loss">Dissociated sensory loss</a></span></li><li><span class="TLline"><a href="/medgen/335722" ref="tree=MeSH" title="MedGen record for Distal sensory impairment">Distal sensory impairment</a></span></li><li><span class="TLline"><a href="/medgen/346424" ref="tree=MeSH" title="MedGen record for Impaired proprioception">Impaired proprioception</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/892810" ref="tree=MeSH" title="MedGen record for Abnormality of the peripheral nervous system">Abnormality of the peripheral nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/1705638" ref="tree=MeSH" title="MedGen record for Abnormal peripheral nervous system physiology">Abnormal peripheral nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/852897" ref="tree=MeSH" title="MedGen record for Abnormality of peripheral nervous system electrophysiology">Abnormality of peripheral nervous system electrophysiology</a></span></li><li><span class="TLline"><a href="/medgen/1863827" ref="tree=MeSH" title="MedGen record for Absent axon flare response after intradermal histamine injection">Absent axon flare response after intradermal histamine injection</a></span></li><li><span class="TLline"><a href="/medgen/713325" ref="tree=MeSH" title="MedGen record for Froment sign">Froment sign</a></span></li><li><span class="TLline"><a href="/medgen/116151" ref="tree=MeSH" title="MedGen record for Isaac syndrome">Isaac syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1779488" ref="tree=MeSH" title="MedGen record for Positive carpal Tinel sign">Positive carpal Tinel sign</a></span></li><li><span class="TLline"><a href="/medgen/660310" ref="tree=MeSH" title="MedGen record for Positive Phalen test">Positive Phalen test</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871233" ref="tree=MeSH" title="MedGen record for Abnormality of the autonomic nervous system">Abnormality of the autonomic nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868554" ref="tree=MeSH" title="MedGen record for Abnormal autonomic nervous system morphology">Abnormal autonomic nervous system morphology</a></span></li><li><span class="TLline"><a href="/medgen/8511" ref="tree=MeSH" title="MedGen record for Abnormal autonomic nervous system physiology">Abnormal autonomic nervous system physiology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892889" ref="tree=MeSH" title="MedGen record for Abnormality of the somatic nervous system">Abnormality of the somatic nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/892692" ref="tree=MeSH" title="MedGen record for Abnormality of somatic nerve plexus">Abnormality of somatic nerve plexus</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/120578" ref="tree=MeSH" title="MedGen record for Cerebellar hypoplasia">Cerebellar hypoplasia</a></span><ul><li><span class="TLline"><a href="/medgen/867764" ref="tree=MeSH" title="MedGen record for Cerebellar hemisphere hypoplasia">Cerebellar hemisphere hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/581580" ref="tree=MeSH" title="MedGen record for Congenital facial nerve palsy">Congenital facial nerve palsy</a></span></li><li><span class="TLline"><a href="/medgen/9336" ref="tree=MeSH" title="MedGen record for Congenital hydrocephalus">Congenital hydrocephalus</a></span><ul><li><span class="TLline"><a href="/medgen/1842324" ref="tree=MeSH" title="MedGen record for Congenital communicating hydrocephalus">Congenital communicating hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/1616373" ref="tree=MeSH" title="MedGen record for Congenital non-communicating hydrocephalus">Congenital non-communicating hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/1648319" ref="tree=MeSH" title="MedGen record for Hydrocephalus, congenital, 3, with brain anomalies">Hydrocephalus, congenital, 3, with brain anomalies</a></span></li><li><span class="TLline"><a href="/medgen/854455" ref="tree=MeSH" title="MedGen record for Hydrocephalus, nonsyndromic, autosomal recessive 1">Hydrocephalus, nonsyndromic, autosomal recessive 1</a></span></li><li><span class="TLline"><a href="/medgen/767605" ref="tree=MeSH" title="MedGen record for Hydrocephalus, nonsyndromic, autosomal recessive 2">Hydrocephalus, nonsyndromic, autosomal recessive 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488957" ref="tree=MeSH" title="MedGen record for Congenital meningocele">Congenital meningocele</a></span><ul><li><span class="TLline"><a href="/medgen/507591" ref="tree=MeSH" title="MedGen record for Congenital cerebral meningocele">Congenital cerebral meningocele</a></span></li><li><span class="TLline"><a href="/medgen/507597" ref="tree=MeSH" title="MedGen record for Congenital spinal meningocele">Congenital spinal meningocele</a></span><ul><li><span class="TLline"><a href="/medgen/768674" ref="tree=MeSH" title="MedGen record for Cervical Meningocele">Cervical Meningocele</a></span></li><li><span class="TLline"><a href="/medgen/768675" ref="tree=MeSH" title="MedGen record for Lumbar Meningocele">Lumbar Meningocele</a></span></li><li><span class="TLline"><a href="/medgen/101069" ref="tree=MeSH" title="MedGen record for Sacral meningocele">Sacral meningocele</a></span></li><li><span class="TLline"><a href="/medgen/768676" ref="tree=MeSH" title="MedGen record for Thoracic Meningocele">Thoracic Meningocele</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/104498" ref="tree=MeSH" title="MedGen record for Corpus callosum, agenesis of">Corpus callosum, agenesis of</a></span><ul><li><span class="TLline"><a href="/medgen/162915" ref="tree=MeSH" title="MedGen record for Acrocallosal syndrome">Acrocallosal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61236" ref="tree=MeSH" title="MedGen record for Aicardi syndrome">Aicardi syndrome</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/98127" ref="tree=MeSH" title="MedGen record for Partial agenesis of the corpus callosum">Partial agenesis of the corpus callosum</a></span></li><li><span class="TLline"><a href="/medgen/90926" ref="tree=MeSH" title="MedGen record for Septo-optic dysplasia sequence">Septo-optic dysplasia sequence</a></span></li></ul></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/4150" ref="tree=MeSH" title="MedGen record for Dandy-Walker syndrome">Dandy-Walker syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842616" ref="tree=MeSH" title="MedGen record for Isolated Dandy-Walker malformation with hydrocephalus">Isolated Dandy-Walker malformation with hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/1842486" ref="tree=MeSH" title="MedGen record for Isolated Dandy-Walker malformation without hydrocephalus">Isolated Dandy-Walker malformation without hydrocephalus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3801" ref="tree=MeSH" title="MedGen record for Diastematomyelia">Diastematomyelia</a></span></li><li><span class="TLline"><a href="/medgen/1646412" ref="tree=MeSH" title="MedGen record for Encephalocele">Encephalocele</a></span><ul><li><span class="TLline"><a href="/medgen/1853830" ref="tree=MeSH" title="MedGen record for Anterior encephalocele">Anterior encephalocele</a></span><ul><li><span class="TLline"><a href="/medgen/342632" ref="tree=MeSH" title="MedGen record for Anterior basal encephalocele">Anterior basal encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/608903" ref="tree=MeSH" title="MedGen record for Frontoethmoidal encephalocele">Frontoethmoidal encephalocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868771" ref="tree=MeSH" title="MedGen record for Basal encephalocele">Basal encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/358250" ref="tree=MeSH" title="MedGen record for Cranium bifidum occultum">Cranium bifidum occultum</a></span><ul><li><span class="TLline"><a href="/medgen/401480" ref="tree=MeSH" title="MedGen record for Parietal foramina 1">Parietal foramina 1</a></span></li><li><span class="TLline"><a href="/medgen/355358" ref="tree=MeSH" title="MedGen record for Parietal foramina 2">Parietal foramina 2</a></span></li><li><span class="TLline"><a href="/medgen/322792" ref="tree=MeSH" title="MedGen record for Parietal foramina 3">Parietal foramina 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82743" ref="tree=MeSH" title="MedGen record for Meningoencephalocele">Meningoencephalocele</a></span></li><li><span class="TLline"><a href="/medgen/4935" ref="tree=MeSH" title="MedGen record for Occipital encephalocele">Occipital encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/488903" ref="tree=MeSH" title="MedGen record for Parietal encephalocele">Parietal encephalocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45066" ref="tree=MeSH" title="MedGen record for Hereditary motor and sensory neuropathy">Hereditary motor and sensory neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/78675" ref="tree=MeSH" title="MedGen record for Alstrom syndrome">Alstrom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2980" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease">Charcot-Marie-Tooth disease</a></span><ul><li><span class="TLline"><a href="/medgen/375064" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2K">Charcot-Marie-Tooth disease axonal type 2K</a></span></li><li><span class="TLline"><a href="/medgen/334023" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease dominant intermediate C">Charcot-Marie-Tooth disease dominant intermediate C</a></span></li><li><span class="TLline"><a href="/medgen/928336" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease dominant intermediate E">Charcot-Marie-Tooth disease dominant intermediate E</a></span></li><li><span class="TLline"><a href="/medgen/1666273" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease dominant intermediate F">Charcot-Marie-Tooth disease dominant intermediate F</a></span></li><li><span class="TLline"><a href="/medgen/124378" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2">Charcot-Marie-Tooth disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/905419" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4">Charcot-Marie-Tooth disease type 4</a></span></li><li><span class="TLline"><a href="/medgen/124377" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 1B">Charcot-Marie-Tooth disease type 1B</a></span></li><li><span class="TLline"><a href="/medgen/350076" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2A1">Charcot-Marie-Tooth disease type 2A1</a></span></li><li><span class="TLline"><a href="/medgen/316946" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2D">Charcot-Marie-Tooth disease type 2D</a></span></li><li><span class="TLline"><a href="/medgen/375127" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2E">Charcot-Marie-Tooth disease type 2E</a></span></li><li><span class="TLline"><a href="/medgen/356581" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4C">Charcot-Marie-Tooth disease type 4C</a></span></li><li><span class="TLline"><a href="/medgen/370808" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4J">Charcot-Marie-Tooth disease type 4J</a></span></li><li><span class="TLline"><a href="/medgen/98290" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease X-linked dominant 1">Charcot-Marie-Tooth disease X-linked dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/389169" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, type 2A">Charcot-Marie-Tooth disease, type 2A</a></span></li><li><span class="TLline"><a href="/medgen/155486" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, type I">Charcot-Marie-Tooth disease, type I</a></span></li><li><span class="TLline"><a href="/medgen/75727" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, type IA">Charcot-Marie-Tooth disease, type IA</a></span></li><li><span class="TLline"><a href="/medgen/468447" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth Neuropathy X">Charcot-Marie-Tooth Neuropathy X</a></span></li><li><span class="TLline"><a href="/medgen/3710" ref="tree=MeSH" title="MedGen record for Dejerine-Sottas disease">Dejerine-Sottas disease</a></span></li><li><span class="TLline"><a href="/medgen/356618" ref="tree=MeSH" title="MedGen record for Neuronopathy, distal hereditary motor, autosomal dominant 1">Neuronopathy, distal hereditary motor, autosomal dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/349240" ref="tree=MeSH" title="MedGen record for Polyneuropathy-hand defect syndrome">Polyneuropathy-hand defect syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1684765" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy">Giant axonal neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/376775" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy 1">Giant axonal neuropathy 1</a></span></li><li><span class="TLline"><a href="/medgen/400593" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy 2">Giant axonal neuropathy 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20844" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia">Hereditary spastic paraplegia</a></span><ul><li><span class="TLline"><a href="/medgen/934734" ref="tree=MeSH" title="MedGen record for Cerebral palsy, spastic quadriplegic, 3">Cerebral palsy, spastic quadriplegic, 3</a></span></li><li><span class="TLline"><a href="/medgen/339552" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 7">Hereditary spastic paraplegia 7</a></span></li><li><span class="TLline"><a href="/medgen/388073" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 11">Hereditary spastic paraplegia 11</a></span></li><li><span class="TLline"><a href="/medgen/419393" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 3A">Hereditary spastic paraplegia 3A</a></span></li><li><span class="TLline"><a href="/medgen/481368" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 47">Hereditary spastic paraplegia 47</a></span></li><li><span class="TLline"><a href="/medgen/376521" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 5A">Hereditary spastic paraplegia 5A</a></span></li><li><span class="TLline"><a href="/medgen/777979" ref="tree=MeSH" title="MedGen record for Spastic Paraplegia 4">Spastic Paraplegia 4</a></span></li><li><span class="TLline"><a href="/medgen/1678550" ref="tree=MeSH" title="MedGen record for Spastic Paraplegia 76">Spastic Paraplegia 76</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11161" ref="tree=MeSH" title="MedGen record for Phytanic acid storage disease">Phytanic acid storage disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/474858" ref="tree=MeSH" title="MedGen record for Hereditary Neurodegenerative Disorder">Hereditary Neurodegenerative Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/482001" ref="tree=MeSH" title="MedGen record for Neurodegeneration with brain iron accumulation 4">Neurodegeneration with brain iron accumulation 4</a></span></li><li><span class="TLline"><a href="/medgen/763887" ref="tree=MeSH" title="MedGen record for Neurodegeneration with brain iron accumulation 5">Neurodegeneration with brain iron accumulation 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14355" ref="tree=MeSH" title="MedGen record for Hereditary sensory and autonomic neuropathy">Hereditary sensory and autonomic neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/1830087" ref="tree=MeSH" title="MedGen record for Congenital insensitivity to pain with hyperhidrosis">Congenital insensitivity to pain with hyperhidrosis</a></span></li><li><span class="TLline"><a href="/medgen/41678" ref="tree=MeSH" title="MedGen record for Familial dysautonomia">Familial dysautonomia</a></span></li><li><span class="TLline"><a href="/medgen/930069" ref="tree=MeSH" title="MedGen record for X-linked hereditary sensory and autonomic neuropathy with hearing loss">X-linked hereditary sensory and autonomic neuropathy with hearing loss</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6937" ref="tree=MeSH" title="MedGen record for Hydranencephaly">Hydranencephaly</a></span></li><li><span class="TLline"><a href="/medgen/364975" ref="tree=MeSH" title="MedGen record for Malformation of cortical development">Malformation of cortical development</a></span><ul><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/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></li><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/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/827134" ref="tree=MeSH" title="MedGen record for Malformations of Cortical Development, Group I">Malformations of Cortical Development, Group I</a></span><ul><li><span class="TLline"><a href="/medgen/44422" ref="tree=MeSH" title="MedGen record for Isolated congenital microcephaly">Isolated congenital microcephaly</a></span></li><li><span class="TLline"><a href="/medgen/65141" ref="tree=MeSH" title="MedGen record for Megalencephaly">Megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/22518" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis syndrome">Tuberous sclerosis syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/827133" ref="tree=MeSH" title="MedGen record for Malformations of Cortical Development, Group III">Malformations of Cortical Development, Group III</a></span><ul><li><span class="TLline"><a href="/medgen/78605" ref="tree=MeSH" title="MedGen record for Polymicrogyria">Polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/901502" ref="tree=MeSH" title="MedGen record for Porencephaly">Porencephaly</a></span></li><li><span class="TLline"><a href="/medgen/78606" ref="tree=MeSH" title="MedGen record for Schizencephaly">Schizencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/336288" ref="tree=MeSH" title="MedGen record for Subcortical band heterotopia">Subcortical band heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/1703799" ref="tree=MeSH" title="MedGen record for Anterior predominant subcortical band heterotopia">Anterior predominant subcortical band heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1689721" ref="tree=MeSH" title="MedGen record for Diffuse subcortical band heterotopia">Diffuse subcortical band heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1691332" ref="tree=MeSH" title="MedGen record for Posterior predominant subcortical band heterotopia">Posterior predominant subcortical band heterotopia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/386642" ref="tree=MeSH" title="MedGen record for microgyria">microgyria</a></span></li><li><span class="TLline"><a href="/medgen/39678" ref="tree=MeSH" title="MedGen record for Myelocele">Myelocele</a></span><ul><li><span class="TLline"><a href="/medgen/473138" ref="tree=MeSH" title="MedGen record for Cervical myelocele">Cervical myelocele</a></span></li><li><span class="TLline"><a href="/medgen/473136" ref="tree=MeSH" title="MedGen record for Lumbar myelocele">Lumbar myelocele</a></span></li><li><span class="TLline"><a href="/medgen/476119" ref="tree=MeSH" title="MedGen record for Sacral Myelocele">Sacral Myelocele</a></span></li><li><span class="TLline"><a href="/medgen/473137" ref="tree=MeSH" title="MedGen record for Thoracic myelocele">Thoracic myelocele</a></span></li></ul></li><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><ul><li><span class="TLline"><a href="/medgen/332248" ref="tree=MeSH" title="MedGen record for Atretic occipital cephalocele">Atretic occipital cephalocele</a></span></li><li><span class="TLline"><a href="/medgen/1830107" ref="tree=MeSH" title="MedGen record for Isolated encephalocele">Isolated encephalocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2065" ref="tree=MeSH" title="MedGen record for Chiari malformation">Chiari malformation</a></span><ul><li><span class="TLline"><a href="/medgen/148202" ref="tree=MeSH" title="MedGen record for Chiari malformation type III">Chiari malformation type III</a></span></li><li><span class="TLline"><a href="/medgen/148203" ref="tree=MeSH" title="MedGen record for Chiari malformation type IV">Chiari malformation type IV</a></span></li><li><span class="TLline"><a href="/medgen/196689" ref="tree=MeSH" title="MedGen record for Chiari type I malformation">Chiari type I malformation</a></span></li><li><span class="TLline"><a href="/medgen/108222" ref="tree=MeSH" title="MedGen record for Chiari type II malformation">Chiari type II malformation</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/1815047" ref="tree=MeSH" title="MedGen record for Dermal sinus tract">Dermal sinus tract</a></span></li><li><span class="TLline"><a href="/medgen/332109" ref="tree=MeSH" title="MedGen record for Lipomyelomeningocele">Lipomyelomeningocele</a></span></li><li><span class="TLline"><a href="/medgen/44356" ref="tree=MeSH" title="MedGen record for Meningocele">Meningocele</a></span></li><li><span class="TLline"><a href="/medgen/11550" ref="tree=MeSH" title="MedGen record for Myelopathy">Myelopathy</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/608901" ref="tree=MeSH" title="MedGen record for Closed iniencephaly">Closed iniencephaly</a></span></li><li><span class="TLline"><a href="/medgen/608900" ref="tree=MeSH" title="MedGen record for Open iniencephaly">Open iniencephaly</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/760704" ref="tree=MeSH" title="MedGen record for Cervical meningomyelocele">Cervical meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/798909" ref="tree=MeSH" title="MedGen record for Cervical spina bifida cystica">Cervical spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/797823" ref="tree=MeSH" title="MedGen record for Cervicothoracic spina bifida cystica">Cervicothoracic spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/760702" ref="tree=MeSH" title="MedGen record for Lumbar meningomyelocele">Lumbar meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/799730" ref="tree=MeSH" title="MedGen record for Lumbosacral spina bifida cystica">Lumbosacral spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/760703" ref="tree=MeSH" title="MedGen record for Thoracic meningomyelocele">Thoracic meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/798744" ref="tree=MeSH" title="MedGen record for Thoracolumbosacral spina bifida cystica">Thoracolumbosacral spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/798852" ref="tree=MeSH" title="MedGen record for Total spina bifida cystica">Total spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/799069" ref="tree=MeSH" title="MedGen record for Upper thoracic spina bifida cystica">Upper thoracic spina bifida cystica</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/120577" ref="tree=MeSH" title="MedGen record for Exencephaly">Exencephaly</a></span></li><li><span class="TLline"><a href="/medgen/539965" ref="tree=MeSH" title="MedGen record for Myeloschisis">Myeloschisis</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/539959" ref="tree=MeSH" title="MedGen record for Cervical spina bifida">Cervical spina bifida</a></span></li><li><span class="TLline"><a href="/medgen/21277" ref="tree=MeSH" title="MedGen record for Spina bifida cystica">Spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/36380" ref="tree=MeSH" title="MedGen record for Spina bifida occulta">Spina bifida occulta</a></span></li></ul></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><li><span class="TLline"><a href="/medgen/137901" ref="tree=MeSH" title="MedGen record for Optic nerve hypoplasia">Optic nerve hypoplasia</a></span><ul><li><span class="TLline"><a href="/medgen/322281" ref="tree=MeSH" title="MedGen record for Isolated optic nerve hypoplasia">Isolated optic nerve hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/768708" ref="tree=MeSH" title="MedGen record for Unilateral Optic Nerve Hypoplasia">Unilateral Optic Nerve Hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/156014" ref="tree=MeSH" title="MedGen record for Vascular malformation of the nervous system">Vascular malformation of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/851" ref="tree=MeSH" title="MedGen record for Arteriovenous Malformation, Intracranial">Arteriovenous Malformation, Intracranial</a></span><ul><li><span class="TLline"><a href="/medgen/287069" ref="tree=MeSH" title="MedGen record for Vein of Galen malformation">Vein of Galen malformation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/199825" ref="tree=MeSH" title="MedGen record for Central Nervous System Cavernous Hemangioma">Central Nervous System Cavernous Hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/232659" ref="tree=MeSH" title="MedGen record for Intracranial cavernous angioma">Intracranial cavernous angioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/156018" ref="tree=MeSH" title="MedGen record for Central Nervous System Venous Angioma">Central Nervous System Venous Angioma</a></span></li><li><span class="TLline"><a href="/medgen/214590" ref="tree=MeSH" title="MedGen record for Cerebral arteriovenous malformation">Cerebral arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/418825" ref="tree=MeSH" title="MedGen record for Cerebral cavernous malformation">Cerebral cavernous malformation</a></span><ul><li><span class="TLline"><a href="/medgen/419031" ref="tree=MeSH" title="MedGen record for Hereditary cavernous hemangioma of brain">Hereditary cavernous hemangioma of brain</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/890255" ref="tree=MeSH" title="MedGen record for Meningioangiomatosis">Meningioangiomatosis</a></span></li><li><span class="TLline"><a href="/medgen/120580" ref="tree=MeSH" title="MedGen record for Sinus pericranii">Sinus pericranii</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_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_3801"><div><strong>Diastematomyelia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3801</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.">C0011999</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/3801">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_44503"><div><strong>Motion sickness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44503</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.">C0026603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/44503">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_10158"><div><strong>Batten-Turner congenital myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10158</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.">C0027127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. Whereas autosomal recessive (AR) myotonia congenita is often associated with more severe manifestations (such as progressive minor distal weakness and attacks of transient weakness brought on by movement after rest), autosomal dominant (AD) myotonia congenita is not. The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. In both AR and AD myotonia congenita onset may be as late as the third or fourth decade of life.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10158">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_102359"><div><strong>Cervical rib</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>102359</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.">C0158779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Presence of rib formation in the cervical region.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/102359">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_61525"><div><strong>Idiopathic hypereosinophilic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61525</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.">C0206141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia.\n\nAnother characteristic feature of PDGFRA-associated chronic eosinophilic leukemia is organ damage caused by the excess eosinophils. Eosinophils release substances to aid in the immune response, but the release of excessive amounts of these substances causes damage to one or more organs, most commonly the heart, skin, lungs, or nervous system. Eosinophil-associated organ damage can lead to a heart condition known as eosinophilic endomyocardial disease, skin rashes, coughing, difficulty breathing, swelling (edema) in the lower limbs, confusion, changes in behavior, or impaired movement or sensations. People with PDGFRA-associated chronic eosinophilic leukemia can also have an enlarged spleen (splenomegaly) and elevated levels of certain chemicals called vitamin B12 and tryptase in the blood.\n\nSome people with PDGFRA-associated chronic eosinophilic leukemia have an increased number of other types of white blood cells, such as neutrophils or mast cells. Occasionally, people with PDGFRA-associated chronic eosinophilic leukemia develop other blood cell cancers, such as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or lymphoblastic lymphoma.\n\nPDGFRA-associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two conditions have very similar signs and symptoms; however, the cause of hypereosinophilic syndrome is unknown.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/61525">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_98032"><div><strong>Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98032</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.">C0406709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/98032">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_98140"><div><strong>Thumbs, congenital Clasped</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98140</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.">C0431886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/98140">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_224824"><div><strong>Jumping Frenchmen of Maine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224824</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.">C1280764</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/224824">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_331770"><div><strong>Myopia 2, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331770</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.">C1834531</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). Genetic Heterogeneity of Susceptibility to Myopia MYP2 maps to chromosome 18p. Other myopia loci include MYP1 (310460) on Xq28; MYP3 (603221) on 12q21-q23; MYP5 (608474) on 17q21-q22; MYP6 (608908), caused by mutation in the SCO2 gene (602474) on 22q13; MYP7 (609256) on 11p13; MYP8 (609257) on 3q26; MYP9 (609258) on 4q12; MYP10 (609259) on 8p23; MYP11 (609994) on 4q22-q27; MYP12 (609995) on 2q37.1; MYP13 (300613) on Xq23-q27; MYP14 (610320) on 1p36; MYP15 (612717) on 10q21.1; MYP16 (612554) on 5p15.33-p15.2; MYP17 (formerly MYP4) (608367) on 7p15; MYP18 (255500) on chromosome 14q22-q24; MYP19 (613969) on 5p15.1-p13.3; MYP20 (614166) on 13q12.12; MYP21 (614167), caused by mutation in the ZNF644 gene (614159) on 1p22; MYP22 (615420), caused by mutation in the CCDC111 gene (615421) on 4q35; MYP23 (615431), caused by mutation in the LRPAP1 gene (104225) on 4p16; MYP24 (615946), caused by mutation in the SLC39A5 gene (608730) on 12q13; MYP25 (617238), caused by mutation in the P4HA2 gene (600608) on 5q31; MYP26 (301010), caused by mutation in the ARR3 gene (301770) on Xq13; MYP27 (618827), caused by mutation in the CPSF1 gene (606027) on 8q24; and MYP28 (619781), caused by mutation in the LOXL3 gene (607163) on 2p13.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/331770">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_322555"><div><strong>Meralgia paraesthetica, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322555</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.">C1835026</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/322555">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_332086"><div><strong>Systemic lupus erythematosus, susceptibility to, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332086</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.">C1835919</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nSystemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332086">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_373124"><div><strong>Griscelli syndrome type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373124</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.">C1836573</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Griscelli syndrome type 3 (GS3) is a rare autosomal recessive disorder that results in a characteristic pigmentary dilution of the skin and hair, which shows a silvery-gray sheen associated with large clumps of pigment in hair shafts and an abnormal accumulation of end-stage melanosomes in the center of melanocytes. There are no immunologic or neurologic manifestations (summary by Menasche et al., 2003). For a discussion of phenotypic and genetic heterogeneity in Griscelli syndrome, see GS1 (214450).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/373124">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_324936"><div><strong>Schizophrenia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324936</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.">C1838069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/324936">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_326850"><div><strong>Spatial visualization, aptitude for</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326850</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.">C1839262</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/326850">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_326945"><div><strong>Modifier, X-linked, for Neurofunctional defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326945</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.">C1839708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/326945">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_374760"><div><strong>Clonic hemifacial spasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374760</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.">C1841639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hemifacial spasm is usually diagnosed in persons in their mid-forties. It often begins with involuntary clonic contractions or twitching of the orbicularis oculi muscle and progresses to involve the entire musculature innervated by the facial nerve (summary by Coad et al., 1991 and Miwa et al., 2002).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/374760">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_336683"><div><strong>Granulomas, congenital cerebral</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336683</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.">C1844406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/336683">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338395"><div><strong>CGF1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338395</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.">C1848140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338395">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376430"><div><strong>Tricarboxylic acid cycle, defect of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376430</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.">C1848746</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376430">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_343713"><div><strong>Discrimination, Two-point, reduction 1N</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343713</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.">C1852074</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/343713">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340942"><div><strong>Intrinsic factor and r binder, combined congenital deficiency of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340942</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.">C1855721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/340942">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_395210"><div><strong>Cerebral sclerosis similar to Pelizaeus-Merzbacher disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395210</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.">C1859258</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395210">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349128"><div><strong>Cerebral angiopathy, dysphoric</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349128</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.">C1859283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349128">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349231"><div><strong>Arthrogryposis multiplex congenita-whistling face syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349231</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.">C1859711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare type of arthrogryposis multiplex congenita with the combination of multiple joint contractures with movement limitation and microstomia with a whistling appearance of the mouth that may cause feeding, swallowing and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction, occasionally Pierre-Robin sequence and lethality generally occurring during the first months of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349231">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348378"><div><strong>Cochleosaccular degeneration-cataract syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348378</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.">C1861512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rare syndrome with manifestation of progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far reported in two families. Transmission is autosomal dominant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348378">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_396196"><div><strong>Klippel-Feil syndrome 1, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396196</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.">C1861689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.\n\nIn people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.\n\nPeople with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.\n\nIn some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396196">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358317"><div><strong>Peroneal nerve, accessory deep</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358317</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.">C1868426</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358317">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436138"><div><strong>Thrombophilia due to protein C deficiency, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436138</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.">C2674321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436138">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419730"><div><strong>Vestibulocochlear dysfunction, progressive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419730</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.">C2931176</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419730">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_764087"><div><strong>UV-sensitive syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>764087</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.">C3551173</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">UV-sensitive syndrome-1 (UVSS1) is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Horibata et al., 2004). Genetic Heterogeneity of UV-Sensitive Syndrome See also UVSS2 (614621), caused by mutation in the ERCC8 gene (609412) on chromosome 5q12, and UVSS3 (614640), caused by mutation in the UVSSA gene (614632) on chromosome 4p16.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/764087">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767041"><div><strong>Ectodermal dysplasia 9, hair/nail type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767041</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.">C3554127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767041">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</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.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis multiplex congenita-whistling face syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Batten-Turner congenital myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral angiopathy, dysphoric</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral sclerosis similar to Pelizaeus-Merzbacher disease</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (32)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_102359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cervical rib</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338395" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CGF1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clonic hemifacial spasm</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348378" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cochleosaccular degeneration-cataract syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_3801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diastematomyelia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Discrimination, Two-point, reduction 1N</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 9, hair/nail type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336683" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Granulomas, congenital cerebral</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Griscelli syndrome type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61525" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Idiopathic hypereosinophilic syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intrinsic factor and r binder, combined congenital deficiency of</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_224824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jumping Frenchmen of Maine</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Klippel-Feil syndrome 1, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meralgia paraesthetica, familial</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Modifier, X-linked, for Neurofunctional defects</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44503" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motion sickness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331770" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia 2, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358317" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroneal nerve, accessory deep</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schizophrenia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326850" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spatial visualization, aptitude for</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus, susceptibility to, 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombophilia due to protein C deficiency, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98140" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thumbs, congenital Clasped</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tricarboxylic acid cycle, defect of</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_764087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">UV-sensitive syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vestibulocochlear dysfunction, progressive</a></div></span></div></div>
|
||
</div>
|
||
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||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37099139">Transitioning care for adolescents with spina bifida in the US: challenges for management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reynolds RA,
|
||
Vance EH,
|
||
Shlobin NA,
|
||
Bowman R,
|
||
Rosseau G</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2023 Nov;39(11):3123-3130.
|
||
Epub 2023 Apr 26
|
||
doi: 10.1007/s00381-023-05955-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37099139" target="_blank">37099139</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormality%20of%20the%20nervous%20system%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/479906">Cutaneous sensory function in diabetes mellitus.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Conomy JP,
|
||
Barnes KL,
|
||
Conomy JM</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
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1979 Jul;42(7):656-61.
|
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doi: 10.1136/jnnp.42.7.656.
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<span class="bold">PMID: </span><a href="/pubmed/479906" target="_blank">479906</a><a href="/pmc/articles/PMC490281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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