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<meta name="keywords" content="C1866129, abnormal cerebellum morphology, abnormality of the cerebellum, anatomical abnormality, cerebellar abnormalities, cerebellar abnormality, cerebellar anomalies, cerebellar anomaly, cerebellar signs, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Any structural abnormality of the cerebellum." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=400925
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ConceptID=C1866129
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal cerebellum morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400925</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1866129</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormality of the cerebellum; Cerebellar abnormalities; Cerebellar abnormality; Cerebellar anomaly; Cerebellar signs</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001317">HP:0001317</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Any structural abnormality of the cerebellum. [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">Abnormal cerebellum morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="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><ul><li><span class="TLline"><a href="/medgen/866816" ref="tree=MeSH" title="MedGen record for Abnormal hindbrain morphology">Abnormal hindbrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869015" ref="tree=MeSH" title="MedGen record for Abnormal metencephalon morphology">Abnormal metencephalon morphology</a></span><ul><li><span class="matched_ds">Abnormal cerebellum morphology</span><ul><li><span class="TLline"><a href="/medgen/1620725" ref="tree=MeSH" title="MedGen record for Abnormal cerebellar cortex morphology">Abnormal cerebellar cortex morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1622266" ref="tree=MeSH" title="MedGen record for Small cerebellar cortex">Small cerebellar cortex</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871231" ref="tree=MeSH" title="MedGen record for Abnormal cerebellar vermis morphology">Abnormal cerebellar vermis morphology</a></span><ul><li><span class="TLline"><a href="/medgen/149271" ref="tree=MeSH" title="MedGen record for Cerebellar vermis atrophy">Cerebellar vermis atrophy</a></span></li><li><span class="TLline"><a href="/medgen/335171" ref="tree=MeSH" title="MedGen record for Disorganization of the anterior cerebellar vermis">Disorganization of the anterior cerebellar vermis</a></span></li><li><span class="TLline"><a href="/medgen/871238" ref="tree=MeSH" title="MedGen record for Dysgenesis of the cerebellar vermis">Dysgenesis of the cerebellar vermis</a></span></li><li><span class="TLline"><a href="/medgen/868499" ref="tree=MeSH" title="MedGen record for Dysmorphic inferior cerebellar vermis">Dysmorphic inferior cerebellar vermis</a></span></li><li><span class="TLline"><a href="/medgen/336510" ref="tree=MeSH" title="MedGen record for Loss of Purkinje cells in the cerebellar vermis">Loss of Purkinje cells in the cerebellar vermis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867758" ref="tree=MeSH" title="MedGen record for Abnormal dentate nucleus morphology">Abnormal dentate nucleus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/341848" ref="tree=MeSH" title="MedGen record for Atrophy of the dentate nucleus">Atrophy of the dentate nucleus</a></span></li><li><span class="TLline"><a href="/medgen/395215" ref="tree=MeSH" title="MedGen record for Cerebellar dentate nucleus calcification">Cerebellar dentate nucleus calcification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/196624" ref="tree=MeSH" title="MedGen record for Cerebellar atrophy">Cerebellar atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/870270" ref="tree=MeSH" title="MedGen record for Cerebellar cortical atrophy">Cerebellar cortical atrophy</a></span></li><li><span class="TLline"><a href="/medgen/868653" ref="tree=MeSH" title="MedGen record for Cerebellar granular layer atrophy">Cerebellar granular layer atrophy</a></span></li><li><span class="TLline"><a href="/medgen/868652" ref="tree=MeSH" title="MedGen record for Cerebellar Purkinje layer atrophy">Cerebellar Purkinje layer atrophy</a></span></li><li><span class="TLline"><a href="/medgen/343184" ref="tree=MeSH" title="MedGen record for Diffuse cerebellar atrophy">Diffuse cerebellar atrophy</a></span></li><li><span class="TLline"><a href="/medgen/39733" ref="tree=MeSH" title="MedGen record for Spinocerebellar atrophy">Spinocerebellar atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/767604" ref="tree=MeSH" title="MedGen record for Ataxia with oculomotor apraxia type 3">Ataxia with oculomotor apraxia type 3</a></span></li><li><span class="TLline"><a href="/medgen/395301" ref="tree=MeSH" title="MedGen record for Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia">Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia</a></span></li><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1684639" ref="tree=MeSH" title="MedGen record for Autosomal dominant cerebellar ataxia">Autosomal dominant cerebellar ataxia</a></span></li><li><span class="TLline"><a href="/medgen/1843058" ref="tree=MeSH" title="MedGen record for Autosomal recessive cerebellar ataxia">Autosomal recessive cerebellar ataxia</a></span></li><li><span class="TLline"><a href="/medgen/9841" ref="tree=MeSH" title="MedGen record for Azorean disease">Azorean disease</a></span></li><li><span class="TLline"><a href="/medgen/341248" ref="tree=MeSH" title="MedGen record for Familial isolated deficiency of vitamin E">Familial isolated deficiency of vitamin E</a></span></li><li><span class="TLline"><a href="/medgen/156006" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia 7">Spinocerebellar ataxia 7</a></span></li><li><span class="TLline"><a href="/medgen/155703" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 1">Spinocerebellar ataxia type 1</a></span></li><li><span class="TLline"><a href="/medgen/155704" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 2">Spinocerebellar ataxia type 2</a></span></li><li><span class="TLline"><a href="/medgen/148458" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 6">Spinocerebellar ataxia type 6</a></span></li><li><span class="TLline"><a href="/medgen/347653" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 12">Spinocerebellar ataxia type 12</a></span></li><li><span class="TLline"><a href="/medgen/337637" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 17">Spinocerebellar ataxia type 17</a></span></li><li><span class="TLline"><a href="/medgen/1711119" ref="tree=MeSH" title="MedGen record for Spinocerebellar Ataxia Type 19/22">Spinocerebellar Ataxia Type 19/22</a></span></li><li><span class="TLline"><a href="/medgen/348439" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 31">Spinocerebellar ataxia type 31</a></span></li><li><span class="TLline"><a href="/medgen/483339" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 36">Spinocerebellar ataxia type 36</a></span></li><li><span class="TLline"><a href="/medgen/902592" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 42">Spinocerebellar ataxia type 42</a></span></li><li><span class="TLline"><a href="/medgen/340052" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2">Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/479952" ref="tree=MeSH" title="MedGen record for Cerebellar dysplasia">Cerebellar dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1614217" ref="tree=MeSH" title="MedGen record for Dysplasia of the superior cerebellar vermis">Dysplasia of the superior cerebellar vermis</a></span></li><li><span class="TLline"><a href="/medgen/1787651" ref="tree=MeSH" title="MedGen record for Global cerebellar dysplasia">Global cerebellar dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1704218" ref="tree=MeSH" title="MedGen record for Superior cerebellar dysplasia">Superior cerebellar dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1375706" ref="tree=MeSH" title="MedGen record for Cerebellar edema">Cerebellar edema</a></span></li><li><span class="TLline"><a href="/medgen/871227" ref="tree=MeSH" title="MedGen record for Cerebellar malformation">Cerebellar malformation</a></span><ul><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/356456" ref="tree=MeSH" title="MedGen record for Rhombencephalosynapsis">Rhombencephalosynapsis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140251" ref="tree=MeSH" title="MedGen record for Dysplastic gangliocytoma of the cerebellum">Dysplastic gangliocytoma of the cerebellum</a></span></li><li><span class="TLline"><a href="/medgen/479654" ref="tree=MeSH" title="MedGen record for Enlarged cerebellum">Enlarged cerebellum</a></span></li><li><span class="TLline"><a href="/medgen/356159" ref="tree=MeSH" title="MedGen record for Fusion of the cerebellar hemispheres">Fusion of the cerebellar hemispheres</a></span></li><li><span class="TLline"><a href="/medgen/10435" ref="tree=MeSH" title="MedGen record for Olivopontocerebellar atrophy">Olivopontocerebellar atrophy</a></span></li><li><span class="TLline"><a href="/medgen/1864276" ref="tree=MeSH" title="MedGen record for T2 hyperintense cerebellar lesion">T2 hyperintense cerebellar lesion</a></span></li><li><span class="TLline"><a href="/medgen/1815092" ref="tree=MeSH" title="MedGen record for White cerebellum sign">White cerebellum sign</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_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_97950"><div><strong>Troyer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97950</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.">C0393559</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Troyer syndrome is characterized by progressive spastic paraparesis, dysarthria, pseudobulbar palsy, distal amyotrophy, short stature, and subtle skeletal abnormalities. Most affected children exhibit delays in walking and speech and difficulty in managing oral secretions, followed by increased lower-limb spasticity and slow deterioration in both gait and speech. Mild cerebellar signs are common. The most severely affected individuals have choreoathetosis. Emotional lability / difficulty in controlling emotions and affective disorders, such as inappropriate euphoria and/or crying, are frequently described. Life expectancy is normal.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/97950">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_155837"><div><strong>Inherited Creutzfeldt-Jakob disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155837</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.">C0751254</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/155837">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_155549"><div><strong>Neuronal ceroid lipofuscinosis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155549</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.">C0751383</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 neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/155549">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_901885"><div><strong>X-linked intellectual disability-short stature-overweight syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901885</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.">C0796218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Kumar-type X-linked syndromic intellectual developmental disorder (MRXSK) is an X-linked recessive disorder that shows phenotypic variability and multisystem involvement apparent from birth or early infancy. Most affected individuals are male, although 1 severely affected girl with a de novo THOC2 mutation has been reported. At the severe end of the spectrum, affected individuals have hypotonia, neonatal difficulties, failure to thrive with poor overall growth, feeding difficulties, respiratory insufficiency, visual impairment, profoundly impaired intellectual development with poor or absent speech, and motor abnormalities, such as inability to walk and hyperkinetic movements. Less severely affected individuals have mildly to moderately impaired intellectual development and speech delay. Additional features include behavioral abnormalities, hearing or visual defects, seizures, dysmorphic facial features, and brain imaging abnormalities (Kumar et al., 2015; Kumar et al., 2018; Kumar et al., 2020).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/901885">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_163239"><div><strong>Brown-Vialetto-van Laere syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163239</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.">C0796274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/163239">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_320287"><div><strong>Ceroid lipofuscinosis, neuronal, 4 (Kufs type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320287</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.">C1834207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Neuronal ceroid lipofuscinosis-4 (CLN4) is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, 204200). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/320287">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_332346"><div><strong>Autosomal dominant sensory ataxia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332346</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.">C1837015</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal dominant sensory ataxia-1 (SNAX1) is a peripheral neuropathy resulting from the degeneration of dorsal root ganglia that affects both central and peripheral neurites of sensory neurons. Affected individuals show adult onset of slowly progressive clumsiness, gait ataxia, walking difficulties, and distal sensory loss which may be associated with abnormal sensory nerve conduction values. Some patients have vestibular ocular dysfunction. Muscle weakness and atrophy are not observed, and brain imaging is normal (summary by Cortese et al., 2020).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332346">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_374177"><div><strong>Hereditary spastic paraplegia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374177</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.">C1839264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/374177">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376521"><div><strong>Hereditary spastic paraplegia 5A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376521</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.">C1849115</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spastic paraplegia-5A (SPG5A) is an autosomal recessive neurologic disorder with a wide phenotypic spectrum. Some patients have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia (summary by Arnoldi et al., 2012). The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Inheritance is most often autosomal dominant (see 182600), but X-linked (see 303350) and autosomal recessive forms also occur. Genetic Heterogeneity of Autosomal Recessive Spastic Paraplegia Autosomal recessive forms of SPG include SPG7 (607259), caused by mutation in the paraplegin gene (602783) on chromosome 16q24; SPG9B (616586), caused by mutation in the ALDH18A1 gene (138250) on 10q24; SPG11 (604360), caused by mutation in the spatacsin gene (610844) on 15q21; SPG15 (270700), caused by mutation in the ZFYVE26 gene (612012) on 14q24; SPG18 (611225), caused by mutation in the ERLIN2 gene (611605) on 8p11; SPG20 (275900), caused by mutation in the spartin gene (607111) on 13q12; SPG21 (248900), caused by mutation in the maspardin gene (608181) on 15q21; SPG26 (609195), caused by mutation in the B4GALNT1 gene (601873) on 12q13; SPG28 (609340), caused by mutation in the DDHD1 gene (614603) on 14q22; SPG30 (610357), caused by mutation in the KIF1A gene (601255) on 2q37; SPG35 (612319), caused by mutation in the FA2H gene (611026) on 16q23; SPG39 (612020), caused by mutation in the PNPLA6 gene (603197) on 19p13; SPG43 (615043), caused by mutation in the C19ORF12 gene (614297) on 19q12; SPG44 (613206), caused by mutation in the GJC2 gene (608803) on 1q42; SPG45 (613162), caused by mutation in the NT5C2 gene (600417) on 10q24; SPG46 (614409), caused by mutation in the GBA2 gene (609471) on 9p13; SPG48 (613647), caused by mutation in the KIAA0415 gene (613653) on 7p22; SPG50 (612936), caused by mutation in the AP4M1 gene (602296) on 7q22; SPG51 (613744), caused by mutation in the AP4E1 gene (607244) on 15q21; SPG52 (614067), caused by mutation in the AP4S1 gene (607243) on 14q12; SPG53 (614898), caused by mutation in the VPS37A gene (609927) on 8p22; SPG54 (615033), caused by mutation in the DDHD2 gene (615003) on 8p11; SPG55 (615035), caused by mutation in the MTRFR gene on 12q24; SPG56 (615030), caused by mutation in the CYP2U1 gene (610670) on 4q25; SPG57 (615658), caused by mutation in the TFG gene (602498) on 3q12; SPG61 (615685), caused by mutation in the ARL6IP1 gene (607669) on 1p12; SPG62 (615681), caused by mutation in the ERLIN1 gene on 10q24; SPG63 (615686), caused by mutation in the AMPD2 gene (102771) on 1p13; SPG64 (615683), caused by mutation in the ENTPD1 gene (601752) on 10q24; SPG72 (615625), caused by mutation in the REEP2 gene (609347) on 5q31; SPG74 (616451), caused by mutation in the IBA57 gene (615316) on 1q42; SPG75 (616680), caused by mutation in the MAG gene (159460) on 19q13; SPG76 (616907), caused by mutation in the CAPN1 gene (114220) on 11q13; SPG77 (617046), caused by mutation in the FARS2 gene (611592) on 6p25; SPG78 (617225), caused by mutation in the ATP13A2 gene (610513) on 1p36; SPG79 (615491), caused by mutation in the UCHL1 gene (191342) on 4p13; SPG81 (618768), caused by mutation in the SELENOI gene (607915) on 2p23; SPG82 (618770), caused by mutation in the PCYT2 gene (602679) on 17q25; SPG83 (619027), caused by mutation in the HPDL gene (618994) on 1p34; SPG84 (619621), caused by mutation in the PI4KA gene (600286) on 22q11; SPG85 (619686), caused by mutation in the RNF170 gene (614649) on 8p11; SPG86 (619735), caused by mutation in the ABHD16A gene (142620) on 6p21; SPG87 (619966), caused by mutation in the TMEM63C gene (619953) on 14q24; SPG89 (620379), caused by mutation in the AMFR gene (603243) on 16q13; SPG90B (620417), caused by mutation in the SPTSSA gene (613540) on 14q13; SPG92 (620911), caused by mutation in the FICD gene (620875) on chromosome 12q23; and SPG93 (620938), caused by mutation in the NFU1 gene (608100) on chromosome 2p13. Additional autosomal recessive forms of SPG have been mapped to chromosomes 3q (SPG14; 605229), 13q14 (SPG24; 607584), 6q (SPG25; 608220), and 10q22 (SPG27; 609041). A disorder that was formerly designated SPG49 has been reclassified as hereditary sensory and autonomic neuropathy-9 with developmental delay (HSAN9; 615031).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376521">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_341387"><div><strong>Hereditary spastic paraplegia 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341387</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.">C1849128</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spastic paraplegia 15 (SPG15), typically an early-onset complex hereditary spastic paraplegia, is characterized by progressive spasticity that begins in the lower extremities and is associated with several manifestations resulting from central and peripheral nervous system dysfunction. While onset of spasticity is typically in mid- to late childhood or adolescence (i.e., between ages 5 and 18 years), other manifestations, such as developmental delay or learning disability, may be present earlier, often preceding motor involvement. Individuals with adult onset have also been reported.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/341387">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376775"><div><strong>Giant axonal neuropathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376775</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.">C1850386</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">GAN-related neurodegeneration comprises a phenotypic continuum ranging from severe (sometimes called classic giant axonal neuropathy) to milder pure early-onset peripheral motor and sensory neuropathies. The classic giant axonal neuropathy phenotype typically manifests as an infantile-onset neurodegenerative disorder, starting as a severe peripheral motor and sensory neuropathy and evolving into central nervous system impairment (intellectual disability, seizures, cerebellar signs, and pyramidal tract signs). Most affected individuals become wheelchair dependent in the second decade of life and eventually bedridden with severe polyneuropathy, ataxia, and dementia. Death usually occurs in the third decade. At the milder end of the spectrum are predominantly motor and sensory neuropathies (with little to no CNS involvement) that overlap with the axonal form of Charcot-Marie-Tooth neuropathies.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376775">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_349198"><div><strong>Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349198</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.">C1859596</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 rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/349198">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_349908"><div><strong>Tremor-nystagmus-duodenal ulcer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349908</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.">C1860860</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 rare hyperkinetic movement disorder with characteristics of mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs such as gait ataxia and adiadochokinesia may be associated. There have been no further descriptions in the literature since 1976.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/349908">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_501134"><div><strong>Hypomyelination and Congenital Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501134</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.">C1864663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor or only mildly delayed development in the first year of life, followed by slowly progressive neurologic impairment manifest as ataxia, spasticity (brisk tendon reflexes and bilateral extensor plantar responses), and mild-to-moderate cognitive impairment. Dysarthria and truncal hypotonia are observed. Cerebellar signs (truncal titubation and intention tremor) and peripheral neuropathy (muscle weakness and wasting of the legs) are present in the majority of affected individuals. Seizures can occur. Cataracts may be absent in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501134">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355548"><div><strong>Cerebellar degeneration-related autoantigen-3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355548</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.">C1865782</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355548">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356995"><div><strong>Adult-onset autosomal dominant demyelinating leukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356995</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.">C1868512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">LMNB1-related autosomal dominant leukodystrophy (ADLD) is a slowly progressive disorder of central nervous system white matter characterized by onset of autonomic dysfunction in the fourth to fifth decade, followed by pyramidal and cerebellar abnormalities resulting in spasticity, ataxia, and tremor. Autonomic dysfunction can include bladder dysfunction, constipation, postural hypotension, erectile dysfunction, and (less often) impaired sweating. Pyramidal signs are often more prominent in the lower extremities (e.g., spastic weakness, hypertonia, clonus, brisk deep tendon reflexes, and bilateral Babinski signs). Cerebellar signs typically appear at the same time as the pyramidal signs and include gait ataxia, dysdiadochokinesia, intention tremor, dysmetria, and nystagmus. Many individuals have sensory deficits starting in the lower limbs. Pseudobulbar palsy with dysarthria, dysphagia, and forced crying and laughing may appear in the seventh or eighth decade. Although cognitive function is usually preserved or only mildly impaired early in the disease course, dementia and psychiatric manifestations can occur as late manifestations. Affected individuals may survive for decades after onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356995">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924879"><div><strong>Hereditary spastic paraplegia 62</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924879</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.">C4284588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A pure or complex form of hereditary spastic paraplegia with characteristics of onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia and flexion contractures of the knees in some.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924879">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1626697"><div><strong>Joubert syndrome 32</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1626697</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.">C4540342</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joubert syndrome-32 (JBTS32) is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017). For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1626697">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648373"><div><strong>Neurodevelopmental disorder with cerebellar atrophy and with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648373</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.">C4748032</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) is an autosomal recessive disorder characterized by intellectual disability associated with ataxia (summary by Engel et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648373">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648383"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648383</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.">C4748792</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/1648383">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1675829"><div><strong>Galloway-Mowat syndrome 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675829</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.">C5193045</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Galloway-Mowat syndrome-8 (GAMOS8) is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood (summary by Fujita et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1675829">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684841"><div><strong>Neurooculocardiogenitourinary syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684841</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.">C5231443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurooculocardiogenitourinary syndrome (NOCGUS) is a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. Lethality before 2 years of age has been observed (Reis et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684841">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356995" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adult-onset autosomal dominant demyelinating leukodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant sensory ataxia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brown-Vialetto-van Laere syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355548" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar degeneration-related autoantigen-3</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (22)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ceroid lipofuscinosis, neuronal, 4 (Kufs type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Galloway-Mowat syndrome 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Giant axonal neuropathy 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376521" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 5A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924879" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 62</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501134" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelination and Congenital Cataract</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inherited Creutzfeldt-Jakob disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1626697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 32</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with cerebellar atrophy and with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurooculocardiogenitourinary syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349908" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor-nystagmus-duodenal ulcer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_97950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Troyer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_901885" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability-short stature-overweight syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
|
||
Behluli E,
|
||
Grajçevci-Uka V,
|
||
Liehr T,
|
||
Temaj G</span><br />
|
||
<span class="medgenPMjournal">J Mother Child</span>
|
||
2022 Mar 1;26(1):118-123.
|
||
Epub 2023 Feb 22
|
||
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35238134">Genotype-phenotype correlates in Joubert syndrome: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gana S,
|
||
Serpieri V,
|
||
Valente EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Mar;190(1):72-88.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1002/ajmg.c.31963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35238134" target="_blank">35238134</a><a href="/pmc/articles/PMC9314610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3905154">Ultrasonic diagnosis of fetal and neonatal hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manco-Johnson ML,
|
||
Pretorius DH</span><br />
|
||
<span class="medgenPMjournal">Clin Neurosurg</span>
|
||
1985;32:574-92.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3905154" target="_blank">3905154</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20cerebellum%20morphology)%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 (107)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36137655">Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bachmann-Gagescu R,
|
||
Dempsey JC,
|
||
Phelps IG,
|
||
O'Roak BJ,
|
||
Knutzen DM,
|
||
Rue TC,
|
||
Ishak GE,
|
||
Isabella CR,
|
||
Gorden N,
|
||
Adkins J,
|
||
Boyle EA,
|
||
de Lacy N,
|
||
O'Day D,
|
||
Alswaid A,
|
||
Ramadevi A R,
|
||
Lingappa L,
|
||
Lourenço C,
|
||
Martorell L,
|
||
Garcia-Cazorla À,
|
||
Ozyürek H,
|
||
Haliloğlu G,
|
||
Tuysuz B,
|
||
Topçu M;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Chance P,
|
||
Parisi MA,
|
||
Glass IA,
|
||
Shendure J,
|
||
Doherty D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Aug;52(8):514-22.
|
||
Epub 2015 Jun 19
|
||
doi: 10.1136/jmedgenet-2015-103087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26092869" target="_blank">26092869</a><a href="/pmc/articles/PMC5082428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebellum%20morphology%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1599)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/36129066">Spontaneous brain activity abnormalities in migraine: A meta-analysis of functional neuroimaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cai M,
|
||
Liu J,
|
||
Wang X,
|
||
Ma J,
|
||
Ma L,
|
||
Liu M,
|
||
Zhao Y,
|
||
Wang H,
|
||
Fu D,
|
||
Wang W,
|
||
Xu Q,
|
||
Guo L,
|
||
Liu F</span><br />
|
||
<span class="medgenPMjournal">Hum Brain Mapp</span>
|
||
2023 Feb 1;44(2):571-584.
|
||
Epub 2022 Sep 21
|
||
doi: 10.1002/hbm.26085.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36129066" target="_blank">36129066</a><a href="/pmc/articles/PMC9842892" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35970833">Gray and white matter abnormality in patients with T2DM-related cognitive dysfunction: a systemic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma T,
|
||
Li ZY,
|
||
Yu Y,
|
||
Hu B,
|
||
Han Y,
|
||
Ni MH,
|
||
Huang YX,
|
||
Chen HH,
|
||
Wang W,
|
||
Yan LF,
|
||
Cui GB</span><br />
|
||
<span class="medgenPMjournal">Nutr Diabetes</span>
|
||
2022 Aug 15;12(1):39.
|
||
doi: 10.1038/s41387-022-00214-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35970833" target="_blank">35970833</a><a href="/pmc/articles/PMC9378704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25860561">Biomarkers and staging of bipolar disorder: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roda Â,
|
||
Chendo I,
|
||
Kunz M</span><br />
|
||
<span class="medgenPMjournal">Trends Psychiatry Psychother</span>
|
||
2015 Jan-Mar;37(1):3-11.
|
||
Epub 2014 Dec 9
|
||
doi: 10.1590/2237-6089-2014-0002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25860561" target="_blank">25860561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19517204">A rare variant of persistent trigeminal artery: cavernous carotid-cerebellar artery anastomosis--a case report and a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raphaeli G,
|
||
Bandeira A,
|
||
Mine B,
|
||
Brisbois D,
|
||
Lubicz B</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2009 Dec;8(4):445-7.
|
||
Epub 2009 Jun 11
|
||
doi: 10.1007/s12311-009-0120-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19517204" target="_blank">19517204</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18833430">Cerebellum and psychiatric disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldaçara L,
|
||
Borgio JG,
|
||
Lacerda AL,
|
||
Jackowski AP</span><br />
|
||
<span class="medgenPMjournal">Braz J Psychiatry</span>
|
||
2008 Sep;30(3):281-9.
|
||
doi: 10.1590/s1516-44462008000300016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18833430" target="_blank">18833430</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebellum%20morphology%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (37)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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