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<meta name="keywords" content="C3278322, cerebellar dysplasia, finding, 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="Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=479952
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ConceptID=C3278322
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cerebellar dysplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>479952</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:">C3278322</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><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:0007033">HP:0007033</a></td></tr>
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<div class="portlet_content ln">Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3278322[DISCUI]&test_type=Clinical" ref="ncbi_uid=479952">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=479952" ref="ncbi_uid=479952">V</a></span></span><span class="TLline">Cerebellar dysplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/400925" ref="tree=MeSH" title="MedGen record for Abnormal cerebellum morphology">Abnormal cerebellum morphology</a></span><ul><li><span class="matched_ds">Cerebellar dysplasia</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></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_167082"><div><strong>Cataract-nephropathy-encephalopathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167082</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.">C0795914</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits and postmortem confirmation of nephropathy (renal tubular necrosis). The combination has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167082">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_330459"><div><strong>Aprosencephaly cerebellar dysgenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330459</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.">C1832412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic non-syndromic central nervous system malformation with characteristics of absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330459">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344425"><div><strong>3-methylglutaconic aciduria type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344425</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.">C1855126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The category of 3-methylglutaconic aciduria type IV (MGCA4) represents a heterogeneous unclassified group of patients who share mild or intermittent urinary excretion of 3-methylglutaconic acid. MGCA excretion is a nonspecific finding observed in many other disorders caused by defects in mitochondrial energy metabolism (Gunay-Aygun, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (250950)</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344425">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347699"><div><strong>Chudley-McCullough syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347699</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.">C1858695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by Alrashdi et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347699">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461761"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461761</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.">C3150411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461761">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461763"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461763</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.">C3150413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461763">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462869"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462869</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.">C3151519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462869">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767295"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767295</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.">C3554381</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Vuillaumier-Barrot et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767295">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767552"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767552</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.">C3554638</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767552">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816615"><div><strong>Proximal myopathy with extrapyramidal signs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816615</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.">C3810285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by Logan et al., 2014). Brain MRI in 1 patient showed congenital malformations, including polymicrogyria and cerebellar dysplasia (Wilton et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816615">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863258"><div><strong>Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863258</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.">C4014821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. Affected individuals have delayed motor development and often have speech delay. Cognitive function can range from normal to intellectually disabled (summary by Aldinger et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863258">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_900119"><div><strong>Joubert syndrome 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>900119</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.">C4084822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/900119">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_899982"><div><strong>Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899982</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.">C4225295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/899982">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924974"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924974</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.">C4284790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A) Muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 (613150), caused by mutation in the POMT2 gene (607439); MDDGA3 (253280), caused by mutation in the POMGNT1 gene (606822); MDDGA4 (253800), caused by mutation in the FKTN gene (607440); MDDGA5 (613153), caused by mutation in the FKRP gene (606596); MDDGA6 (613154), caused by mutation in the LARGE gene (603590); MDDGA7 (614643), caused by mutation in the ISPD gene (CRPPA; 614631); MDDGA8 (614830) caused by mutation in the GTDC2 gene (POMGNT2; 614828); MDDGA9 (616538), caused by mutation in the DAG1 gene (128239); MDDGA10 (615041), caused by mutation in the TMEM5 gene (RXYLT1; 605862); MDDGA11 (615181), caused by mutation in the B3GALNT2 gene (610194); MDDGA12 (615249), caused by mutation in the SGK196 gene (POMK; 615247); MDDGA13 (615287), caused by mutation in the B3GNT1 gene (B4GAT1; 605517); and MDDGA14 (615350), caused by mutation in the GMPPB gene (615320).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924974">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1619532"><div><strong>Intellectual disability, autosomal dominant 48</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1619532</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.">C4540321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1619532">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1634304"><div><strong>Alkuraya-Kucinskas syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634304</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.">C4693347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634304">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1774807"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1774807</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.">C5436962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; intellectual disability mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without impaired intellectual development (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, 609308). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Impaired Intellectual Development (Type B) Congenital muscular dystrophy with impaired intellectual development due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (613156), caused by mutation in the POMT2 gene (607439); MDDGB3 (613151), caused by mutation in the POMGNT1 gene (606822); MDDGB4 (613152), caused by mutation in the FKTN gene (607440); MDDGB5 (616612), caused by mutation in the FKRP gene (606596); MDDGB6 (608840), caused by mutation in the LARGE gene (603590); MDDGB14 (615351), caused by mutation in the GMPPB gene (615320); and MDDGB15 (618992), caused by mutation in the DPM3 gene (605951).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1774807">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-methylglutaconic aciduria type 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alkuraya-Kucinskas syndrome</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aprosencephaly cerebellar dysgenesis</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167082" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract-nephropathy-encephalopathy syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347699" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chudley-McCullough syndrome</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1619532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 48</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_900119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 23</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461761" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461763" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1774807" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal myopathy with extrapyramidal signs</a></div></span></div></div>
|
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</div>
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|
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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>
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||
<div class="nl"><a target="_blank" href="/pubmed/32037567">Agenesis of the septum pellucidum: Prenatal diagnosis and outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borkowski-Tillman T,
|
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Garcia-Rodriguez R,
|
||
Viñals F,
|
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Branco M,
|
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Kradjen-Haratz K,
|
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Ben-Sira L,
|
||
Lerman-Sagie T,
|
||
Malinger G</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2020 May;40(6):674-680.
|
||
Epub 2020 Mar 31
|
||
doi: 10.1002/pd.5663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32037567" target="_blank">32037567</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24839100">Cerebellar hypoplasia: differential diagnosis and diagnostic approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poretti A,
|
||
Boltshauser E,
|
||
Doherty D</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Jun;166C(2):211-26.
|
||
Epub 2014 May 16
|
||
doi: 10.1002/ajmg.c.31398.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24839100" target="_blank">24839100</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17389183">Meckel syndrome: genetics, perinatal findings, and differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen CP</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2007 Mar;46(1):9-14.
|
||
doi: 10.1016/S1028-4559(08)60100-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17389183" target="_blank">17389183</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cerebellar%20dysplasia)%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 (15)</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/37735380">Novel variants identified in five Chinese families with Joubert Syndrome: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang L,
|
||
Wang L,
|
||
Yang L,
|
||
Xu X,
|
||
Pei S,
|
||
Wu D</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2023 Sep 21;16(1):221.
|
||
doi: 10.1186/s12920-023-01669-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37735380" target="_blank">37735380</a><a href="/pmc/articles/PMC10512497" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34675124">SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serpieri V,
|
||
D'Abrusco F,
|
||
Dempsey JC,
|
||
Cheng YH,
|
||
Arrigoni F,
|
||
Baker J,
|
||
Battini R,
|
||
Bertini ES,
|
||
Borgatti R,
|
||
Christman AK,
|
||
Curry C,
|
||
D'Arrigo S,
|
||
Fluss J,
|
||
Freilinger M,
|
||
Gana S,
|
||
Ishak GE,
|
||
Leuzzi V,
|
||
Loucks H,
|
||
Manti F,
|
||
Mendelsohn N,
|
||
Merlini L,
|
||
Miller CV,
|
||
Muhammad A,
|
||
Nuovo S,
|
||
Romaniello R,
|
||
Schmidt W,
|
||
Signorini S,
|
||
Siliquini S,
|
||
Szczałuba K,
|
||
Vasco G,
|
||
Wilson M,
|
||
Zanni G,
|
||
Boltshauser E,
|
||
Doherty D,
|
||
Valente EM;
|
||
University of Washington Center for Mendelian Genomics (UW-CMG) group</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Sep;59(9):888-894.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1136/jmedgenet-2021-108114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34675124" target="_blank">34675124</a><a href="/pmc/articles/PMC9411896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31595598">Quantitative fetal magnetic resonance imaging assessment of cystic posterior fossa malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dovjak GO,
|
||
Diogo MC,
|
||
Brugger PC,
|
||
Gruber GM,
|
||
Weber M,
|
||
Glatter S,
|
||
Seidl R,
|
||
Bettelheim D,
|
||
Prayer D,
|
||
Kasprian GJ</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2020 Jul;56(1):78-85.
|
||
doi: 10.1002/uog.21890.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31595598" target="_blank">31595598</a><a href="/pmc/articles/PMC7384051" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26130693">Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oegema R,
|
||
Cushion TD,
|
||
Phelps IG,
|
||
Chung SK,
|
||
Dempsey JC,
|
||
Collins S,
|
||
Mullins JG,
|
||
Dudding T,
|
||
Gill H,
|
||
Green AJ,
|
||
Dobyns WB,
|
||
Ishak GE,
|
||
Rees MI,
|
||
Doherty D</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2015 Sep 15;24(18):5313-25.
|
||
Epub 2015 Jun 30
|
||
doi: 10.1093/hmg/ddv250.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26130693" target="_blank">26130693</a><a href="/pmc/articles/PMC4550818" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19337779">Malformations of the midbrain and hindbrain: a retrospective study and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alkan O,
|
||
Kizilkilic O,
|
||
Yildirim T</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2009 Sep;8(3):355-65.
|
||
Epub 2009 Apr 1
|
||
doi: 10.1007/s12311-009-0104-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19337779" target="_blank">19337779</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebellar%20dysplasia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37735380">Novel variants identified in five Chinese families with Joubert Syndrome: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang L,
|
||
Wang L,
|
||
Yang L,
|
||
Xu X,
|
||
Pei S,
|
||
Wu D</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2023 Sep 21;16(1):221.
|
||
doi: 10.1186/s12920-023-01669-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37735380" target="_blank">37735380</a><a href="/pmc/articles/PMC10512497" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34675124">SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serpieri V,
|
||
D'Abrusco F,
|
||
Dempsey JC,
|
||
Cheng YH,
|
||
Arrigoni F,
|
||
Baker J,
|
||
Battini R,
|
||
Bertini ES,
|
||
Borgatti R,
|
||
Christman AK,
|
||
Curry C,
|
||
D'Arrigo S,
|
||
Fluss J,
|
||
Freilinger M,
|
||
Gana S,
|
||
Ishak GE,
|
||
Leuzzi V,
|
||
Loucks H,
|
||
Manti F,
|
||
Mendelsohn N,
|
||
Merlini L,
|
||
Miller CV,
|
||
Muhammad A,
|
||
Nuovo S,
|
||
Romaniello R,
|
||
Schmidt W,
|
||
Signorini S,
|
||
Siliquini S,
|
||
Szczałuba K,
|
||
Vasco G,
|
||
Wilson M,
|
||
Zanni G,
|
||
Boltshauser E,
|
||
Doherty D,
|
||
Valente EM;
|
||
University of Washington Center for Mendelian Genomics (UW-CMG) group</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Sep;59(9):888-894.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1136/jmedgenet-2021-108114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34675124" target="_blank">34675124</a><a href="/pmc/articles/PMC9411896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33534089">Diagnostic Approach to Cerebellar Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Accogli A,
|
||
Addour-Boudrahem N,
|
||
Srour M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2021 Aug;20(4):631-658.
|
||
Epub 2021 Feb 3
|
||
doi: 10.1007/s12311-020-01224-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33534089" target="_blank">33534089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32901329">Cerebellar dysplasia related to PIK3CA mutation: a three-case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Stasi M,
|
||
Izzo G,
|
||
Cattaneo E,
|
||
Baraldini V,
|
||
Doneda C,
|
||
Righini A,
|
||
Graziani D,
|
||
Toto V,
|
||
Parazzini C</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2021 Mar;22(1):27-32.
|
||
Epub 2020 Sep 8
|
||
doi: 10.1007/s10048-020-00628-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32901329" target="_blank">32901329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26614131">Fetal Brain Magnetic Resonance Imaging Findings In Congenital Cytomegalovirus Infection With Postnatal Imaging Correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Averill LW,
|
||
Kandula VV,
|
||
Akyol Y,
|
||
Epelman M</span><br />
|
||
<span class="medgenPMjournal">Semin Ultrasound CT MR</span>
|
||
2015 Dec;36(6):476-86.
|
||
Epub 2015 Apr 3
|
||
doi: 10.1053/j.sult.2015.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26614131" target="_blank">26614131</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebellar%20dysplasia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (34)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29519789">Congenital Aqueductal Stenosis: Findings at Fetal MRI That Accurately Predict a Postnatal Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heaphy-Henault KJ,
|
||
Guimaraes CV,
|
||
Mehollin-Ray AR,
|
||
Cassady CI,
|
||
Zhang W,
|
||
Desai NK,
|
||
Paldino MJ</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2018 May;39(5):942-948.
|
||
Epub 2018 Mar 8
|
||
doi: 10.3174/ajnr.A5590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29519789" target="_blank">29519789</a><a href="/pmc/articles/PMC7410663" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27095636">Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vilboux T,
|
||
Malicdan MC,
|
||
Chang YM,
|
||
Guo J,
|
||
Zerfas PM,
|
||
Stephen J,
|
||
Cullinane AR,
|
||
Bryant J,
|
||
Fischer R,
|
||
Brooks BP,
|
||
Zein WM,
|
||
Wiggs EA,
|
||
Zalewski CK,
|
||
Poretti A,
|
||
Bryan MM,
|
||
Vemulapalli M,
|
||
Mullikin JC,
|
||
Kirby M,
|
||
Anderson SM;
|
||
NISC Comparative Sequencing Program,
|
||
Huizing M,
|
||
Toro C,
|
||
Gahl WA,
|
||
Gunay-Aygun M</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2016 May;53(5):318-29.
|
||
Epub 2016 Jan 13
|
||
doi: 10.1136/jmedgenet-2015-103416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27095636" target="_blank">27095636</a><a href="/pmc/articles/PMC8378307" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebellar%20dysplasia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34675124">SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serpieri V,
|
||
D'Abrusco F,
|
||
Dempsey JC,
|
||
Cheng YH,
|
||
Arrigoni F,
|
||
Baker J,
|
||
Battini R,
|
||
Bertini ES,
|
||
Borgatti R,
|
||
Christman AK,
|
||
Curry C,
|
||
D'Arrigo S,
|
||
Fluss J,
|
||
Freilinger M,
|
||
Gana S,
|
||
Ishak GE,
|
||
Leuzzi V,
|
||
Loucks H,
|
||
Manti F,
|
||
Mendelsohn N,
|
||
Merlini L,
|
||
Miller CV,
|
||
Muhammad A,
|
||
Nuovo S,
|
||
Romaniello R,
|
||
Schmidt W,
|
||
Signorini S,
|
||
Siliquini S,
|
||
Szczałuba K,
|
||
Vasco G,
|
||
Wilson M,
|
||
Zanni G,
|
||
Boltshauser E,
|
||
Doherty D,
|
||
Valente EM;
|
||
University of Washington Center for Mendelian Genomics (UW-CMG) group</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Sep;59(9):888-894.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1136/jmedgenet-2021-108114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34675124" target="_blank">34675124</a><a href="/pmc/articles/PMC9411896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33534089">Diagnostic Approach to Cerebellar Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Accogli A,
|
||
Addour-Boudrahem N,
|
||
Srour M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2021 Aug;20(4):631-658.
|
||
Epub 2021 Feb 3
|
||
doi: 10.1007/s12311-020-01224-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33534089" target="_blank">33534089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26614131">Fetal Brain Magnetic Resonance Imaging Findings In Congenital Cytomegalovirus Infection With Postnatal Imaging Correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Averill LW,
|
||
Kandula VV,
|
||
Akyol Y,
|
||
Epelman M</span><br />
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<span class="medgenPMjournal">Semin Ultrasound CT MR</span>
|
||
2015 Dec;36(6):476-86.
|
||
Epub 2015 Apr 3
|
||
doi: 10.1053/j.sult.2015.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26614131" target="_blank">26614131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23899771">Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okamoto N,
|
||
Yamagata T,
|
||
Yada Y,
|
||
Ichihashi K,
|
||
Matsumoto N,
|
||
Momoi MY,
|
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Mizuguchi T</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2014 Jun;36(6):523-7.
|
||
Epub 2013 Jul 27
|
||
doi: 10.1016/j.braindev.2013.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23899771" target="_blank">23899771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19337779">Malformations of the midbrain and hindbrain: a retrospective study and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alkan O,
|
||
Kizilkilic O,
|
||
Yildirim T</span><br />
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<span class="medgenPMjournal">Cerebellum</span>
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||
2009 Sep;8(3):355-65.
|
||
Epub 2009 Apr 1
|
||
doi: 10.1007/s12311-009-0104-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19337779" target="_blank">19337779</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebellar%20dysplasia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34675124">SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serpieri V,
|
||
D'Abrusco F,
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||
Dempsey JC,
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||
Cheng YH,
|
||
Arrigoni F,
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||
Baker J,
|
||
Battini R,
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||
Bertini ES,
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||
Borgatti R,
|
||
Christman AK,
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||
Curry C,
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||
D'Arrigo S,
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||
Fluss J,
|
||
Freilinger M,
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||
Gana S,
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||
Ishak GE,
|
||
Leuzzi V,
|
||
Loucks H,
|
||
Manti F,
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||
Mendelsohn N,
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||
Merlini L,
|
||
Miller CV,
|
||
Muhammad A,
|
||
Nuovo S,
|
||
Romaniello R,
|
||
Schmidt W,
|
||
Signorini S,
|
||
Siliquini S,
|
||
Szczałuba K,
|
||
Vasco G,
|
||
Wilson M,
|
||
Zanni G,
|
||
Boltshauser E,
|
||
Doherty D,
|
||
Valente EM;
|
||
University of Washington Center for Mendelian Genomics (UW-CMG) group</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Sep;59(9):888-894.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1136/jmedgenet-2021-108114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34675124" target="_blank">34675124</a><a href="/pmc/articles/PMC9411896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34863467">Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zulfiqar S,
|
||
Tariq M,
|
||
Ramzan S,
|
||
Khan A,
|
||
Sher M,
|
||
Ali Z,
|
||
Dahl N,
|
||
Abdullah U,
|
||
Mahmood Baig S</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2021 Dec;94:8-12.
|
||
Epub 2021 Sep 30
|
||
doi: 10.1016/j.jocn.2021.09.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34863467" target="_blank">34863467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26614131">Fetal Brain Magnetic Resonance Imaging Findings In Congenital Cytomegalovirus Infection With Postnatal Imaging Correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Averill LW,
|
||
Kandula VV,
|
||
Akyol Y,
|
||
Epelman M</span><br />
|
||
<span class="medgenPMjournal">Semin Ultrasound CT MR</span>
|
||
2015 Dec;36(6):476-86.
|
||
Epub 2015 Apr 3
|
||
doi: 10.1053/j.sult.2015.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26614131" target="_blank">26614131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26130693">Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oegema R,
|
||
Cushion TD,
|
||
Phelps IG,
|
||
Chung SK,
|
||
Dempsey JC,
|
||
Collins S,
|
||
Mullins JG,
|
||
Dudding T,
|
||
Gill H,
|
||
Green AJ,
|
||
Dobyns WB,
|
||
Ishak GE,
|
||
Rees MI,
|
||
Doherty D</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2015 Sep 15;24(18):5313-25.
|
||
Epub 2015 Jun 30
|
||
doi: 10.1093/hmg/ddv250.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26130693" target="_blank">26130693</a><a href="/pmc/articles/PMC4550818" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23472759">Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radmanesh F,
|
||
Caglayan AO,
|
||
Silhavy JL,
|
||
Yilmaz C,
|
||
Cantagrel V,
|
||
Omar T,
|
||
Rosti B,
|
||
Kaymakcalan H,
|
||
Gabriel S,
|
||
Li M,
|
||
Sestan N,
|
||
Bilguvar K,
|
||
Dobyns WB,
|
||
Zaki MS,
|
||
Gunel M,
|
||
Gleeson JG</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2013 Mar 7;92(3):468-74.
|
||
doi: 10.1016/j.ajhg.2013.02.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23472759" target="_blank">23472759</a><a href="/pmc/articles/PMC3591846" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebellar%20dysplasia%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 (14)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3278322%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C3278322%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3278322%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
|
||
</ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Cerebellar%20dysplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cerebellar%20dysplasia)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Cerebellar%20dysplasia" target="_blank">MedlinePlus</a></li></ul></div>
|
||
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|
||
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|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Reviews</h3>
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<ul>
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<li>
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||
<a href="/pubmed/clinical?term=Cerebellar%20dysplasia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
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</li>
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<li>
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<a href="/pubmed?term=Cerebellar%20dysplasia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
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|
||
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||
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||
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||
<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=479952" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3278322[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3278322[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=479952" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=479952" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
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||
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||
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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Turn Off
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Turn On
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<ul id="activity">
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<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cf8c1da68b6b5afc975dd2">Cerebellar dysplasia</a>
|
||
<div class="ralinkpop offscreen_noflow">Cerebellar dysplasia<div class="brieflinkpopdesc"></div></div>
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