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<meta name="keywords" content="C5399973, disease or syndrome, periventricular gray matter heterotopia, periventricular gray matter heterotopias, periventricular grey matter heterotopia, periventricular heterotopia, periventricular neuronal heterotopia, subependymal gray matter heterotopia, subependymal grey matter heterotopia, subependymal neuronal heterotopia, 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="A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1766888
|
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ConceptID=C5399973
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Periventricular heterotopia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1766888</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.">C5399973</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Periventricular gray matter heterotopias; Subependymal gray matter heterotopia</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:0007165">HP:0007165</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">A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. [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 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>
|
||
<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=C5399973[DISCUI]&test_type=Clinical" ref="ncbi_uid=1766888">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=1766888" ref="ncbi_uid=1766888">V</a></span></span><span class="TLline">Periventricular heterotopia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/324748" ref="tree=MeSH" title="MedGen record for Abnormality of neuronal migration">Abnormality of neuronal migration</a></span><ul><li><span class="TLline"><a href="/medgen/452349" ref="tree=MeSH" title="MedGen record for Gray matter heterotopia">Gray matter heterotopia</a></span><ul><li><span class="matched_ds">Periventricular heterotopia</span><ul><li><span class="TLline"><a href="/medgen/394736" ref="tree=MeSH" title="MedGen record for Periventricular laminar heterotopia">Periventricular laminar heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/358387" ref="tree=MeSH" title="MedGen record for Periventricular nodular heterotopia">Periventricular nodular heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/442882" ref="tree=MeSH" title="MedGen record for Chromosome 5Q14.3 deletion syndrome, distal">Chromosome 5Q14.3 deletion syndrome, distal</a></span></li><li><span class="TLline"><a href="/medgen/374963" ref="tree=MeSH" title="MedGen record for Heterotopia, periventricular, associated with chromosome 5P anomalies">Heterotopia, periventricular, associated with chromosome 5P anomalies</a></span></li><li><span class="TLline"><a href="/medgen/376309" ref="tree=MeSH" title="MedGen record for Heterotopia, periventricular, X-linked dominant">Heterotopia, periventricular, X-linked dominant</a></span></li><li><span class="TLline"><a href="/medgen/334110" ref="tree=MeSH" title="MedGen record for Periventricular heterotopia with microcephaly, autosomal recessive">Periventricular heterotopia with microcephaly, autosomal recessive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1698492" ref="tree=MeSH" title="MedGen record for Periventricular ribbonlike heterotopia">Periventricular ribbonlike heterotopia</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>
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<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_8912"><div><strong>Fragile X syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8912</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.">C0016667</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. Autism spectrum disorder is present in 50%-70% of individuals with FXS. Affected males may have characteristic craniofacial features (which become more obvious with age) and medical problems including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, pes planus, scoliosis, and recurrent otitis media. Adults may have mitral valve prolapse or aortic root dilatation. The physical and behavioral features seen in males with FXS have been reported in females heterozygous for the FMR1 full mutation, but with lower frequency and milder involvement. FXTAS occurs in individuals who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive impairment. Psychiatric disorders are common. Age of onset is typically between 60 and 65 years and is more common among males who are hemizygous for the premutation (40%) than among females who are heterozygous for the premutation (16%-20%). FXPOI, defined as hypergonadotropic hypogonadism before age 40 years, has been observed in 20% of women who carry a premutation allele compared to 1% in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8912">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_61231"><div><strong>Smith-Lemli-Opitz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61231</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:">C0175694</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61231">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334110"><div><strong>Periventricular heterotopia with microcephaly, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334110</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.">C1842563</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/334110">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381208"><div><strong>Genitopatellar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381208</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.">C1853566</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype intermediate between GPS and SBBYSS have been reported. Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips, and anomalies of the digits, spine, and/or ribs. Congenital heart defects, small bowel malrotation, feeding difficulties, slow growth, cleft palate, hearing loss, and dental anomalies have been observed in individuals with either phenotype.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381208">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394125"><div><strong>Fontaine progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394125</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.">C2676780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SLC25A24 Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time. Characteristic radiographic features include turribrachycephaly with widely open anterior fontanelle, craniosynostosis, and anomalies of the terminal phalanges. Cardiovascular, genitourinary, ocular, and gastrointestinal abnormalities may also occur. To date, 13 individuals with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394125">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481470"><div><strong>Methylmalonate semialdehyde dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481470</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.">C3279840</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Methylmalonate semialdehyde dehydrogenase deficiency is a rare autosomal recessive inborn error of metabolism with a highly variable phenotype. Some patients may be asymptomatic, whereas others show global developmental delay, nonspecific dysmorphic features, and delayed myelination on brain imaging. Laboratory studies typically show increased urinary 3-hydroxyisobutyric acid, although additional metabolic abnormalities may also be observed (summary by Marcadier et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481470">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863825"><div><strong>Microcephaly and chorioretinopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863825</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.">C4015388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014). For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (251270).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863825">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863962"><div><strong>Lissencephaly 6 with microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863962</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.">C4015525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lissencephaly-6 (LIS6) is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863962">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1635470"><div><strong>Orofaciodigital syndrome type 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635470</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.">C4706604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations. The disease has characteristics of severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulum, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign on brain imaging are also associated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635470">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648439"><div><strong>Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648439</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.">C4748927</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities on brain imaging. Affected individuals have enlargement of the corpus callosum, enlarged ventricles, and cerebellar and brainstem hypoplasia. Other features may include lack of speech development, gait instability, and seizures. Some patients with MAST1 mutations may have impaired intellectual development and/or autism spectrum disorder without significant findings on brain imaging (summary by Tripathy et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648439">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1678789"><div><strong>Brain abnormalities, neurodegeneration, and dysosteosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1678789</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.">C5193117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum (summary by Guo et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1678789">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684689"><div><strong>Neuromuscular disease and ocular or auditory anomalies with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684689</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.">C5231483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuromuscular oculoauditory syndrome (NMOAS) is a neurodevelopmental disorder with variable features including hypotonia, nonspecific developmental delay, and ear deformity or sensorineural deafness. Features may be reminiscent of Aicardi syndrome (see 304050), with chorioretinal lacunae, infantile spasms, and agenesis of the corpus callosum (Paine et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684689">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1711043"><div><strong>Skeletal dysplasia, mild, with joint laxity and advanced bone age</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1711043</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.">C5394341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CSGALNACT1 deficiency is characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly. Advanced carpotarsal bone age and monkey-wrench appearance of the femur observed in infancy may disappear with age (Mizumoto et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1711043">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1718475"><div><strong>Agenesis of corpus callosum, cardiac, ocular, and genital syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718475</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.">C5394523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies (Accogli et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1718475">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1763263"><div><strong>Li-Ghorbani-Weisz-Hubshman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1763263</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.">C5436525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is a neurodevelopmental disorder characterized by global developmental delay, mild to moderately impaired intellectual development with language delay, and mild dysmorphic features. Affected individuals may have behavioral abnormalities and difficulties with numbers and understanding certain concepts, such as money. Some patients have seizures. Brain imaging often shows enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia, suggesting abnormal cortical brain development. More variable additional features may be present (summary by Li et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1763263">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803456"><div><strong>Neurodevelopmental disorder with neuromuscular and skeletal abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803456</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.">C5676965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, peripheral neuropathy, behavioral abnormalities, and nonspecific findings on brain imaging (Kurolap et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1803456">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1811868"><div><strong>Holoprosencephaly 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1811868</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.">C5676994</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Holoprosencephaly-14 (HPE14) is an autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum (Drissi et al., 2022). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1811868">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854654"><div><strong>Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854654</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.">C5935628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854654">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718475" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agenesis of corpus callosum, cardiac, ocular, and genital syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1678789" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain abnormalities, neurodegeneration, and dysosteosclerosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fontaine progeroid syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_8912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fragile X syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381208" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genitopatellar syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1811868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1763263" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Li-Ghorbani-Weisz-Hubshman syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly 6 with microcephaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonate semialdehyde dehydrogenase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863825" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly and chorioretinopathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with neuromuscular and skeletal abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuromuscular disease and ocular or auditory anomalies with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1635470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome type 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334110" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periventricular heterotopia with microcephaly, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1711043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skeletal dysplasia, mild, with joint laxity and advanced bone age</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Lemli-Opitz 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/33214065">Cranial ultrasonographic screening findings among healthy neonates and their association with neurodevelopmental outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin YJ,
|
||
Chiu NC,
|
||
Chen HJ,
|
||
Huang JY,
|
||
Ho CS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neonatol</span>
|
||
2021 Mar;62(2):158-164.
|
||
Epub 2020 Nov 2
|
||
doi: 10.1016/j.pedneo.2020.10.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33214065" target="_blank">33214065</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14970044">Early prenatal MR imaging diagnosis of polymicrogyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Righini A,
|
||
Zirpoli S,
|
||
Mrakic F,
|
||
Parazzini C,
|
||
Pogliani L,
|
||
Triulzi F</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2004 Feb;25(2):343-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14970044" target="_blank">14970044</a><a href="/pmc/articles/PMC7974610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22periventricular%20heterotopia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</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/36889877">Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giuliani L,
|
||
Di Toro A,
|
||
Urtis M,
|
||
Narula N,
|
||
Grasso M,
|
||
Pelenghi S,
|
||
Belliato M,
|
||
Bozzani A,
|
||
Arici V,
|
||
Pellegrini C,
|
||
Serio A,
|
||
Pilotto A,
|
||
Fergnani V,
|
||
Antoniazzi E,
|
||
Magrassi L,
|
||
Dore R,
|
||
Valentini A,
|
||
Preda L,
|
||
Calliada F,
|
||
Quaretti P,
|
||
Pirrelli S,
|
||
Kodama T,
|
||
Vricella L,
|
||
Cameron D,
|
||
Arbustini E</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2023 Mar 14;81(10):979-991.
|
||
doi: 10.1016/j.jacc.2023.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36889877" target="_blank">36889877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28951247">Genetics and mechanisms leading to human cortical malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romero DM,
|
||
Bahi-Buisson N,
|
||
Francis F</span><br />
|
||
<span class="medgenPMjournal">Semin Cell Dev Biol</span>
|
||
2018 Apr;76:33-75.
|
||
Epub 2017 Oct 11
|
||
doi: 10.1016/j.semcdb.2017.09.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28951247" target="_blank">28951247</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23831424">Embryonic disruption of the candidate dyslexia susceptibility gene homolog Kiaa0319-like results in neuronal migration disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Platt MP,
|
||
Adler WT,
|
||
Mehlhorn AJ,
|
||
Johnson GC,
|
||
Wright KA,
|
||
Choi RT,
|
||
Tsang WH,
|
||
Poon MW,
|
||
Yeung SY,
|
||
Waye MM,
|
||
Galaburda AM,
|
||
Rosen GD</span><br />
|
||
<span class="medgenPMjournal">Neuroscience</span>
|
||
2013 Sep 17;248:585-93.
|
||
Epub 2013 Jul 3
|
||
doi: 10.1016/j.neuroscience.2013.06.056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23831424" target="_blank">23831424</a><a href="/pmc/articles/PMC3843998" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19245832">Neuronal migration disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Parrini E</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2010 May;38(2):154-66.
|
||
Epub 2009 Feb 23
|
||
doi: 10.1016/j.nbd.2009.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19245832" target="_blank">19245832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11198296">Causes of epilepsies: insights from discordant monozygous twins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Briellmann RS,
|
||
Jackson GD,
|
||
Torn-Broers Y,
|
||
Berkovic SF</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2001 Jan;49(1):45-52.
|
||
doi: 10.1002/1531-8249(200101)49:1<45::aid-ana9>3.0.co;2-f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11198296" target="_blank">11198296</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Periventricular%20heterotopia%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 (34)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36889877">Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giuliani L,
|
||
Di Toro A,
|
||
Urtis M,
|
||
Narula N,
|
||
Grasso M,
|
||
Pelenghi S,
|
||
Belliato M,
|
||
Bozzani A,
|
||
Arici V,
|
||
Pellegrini C,
|
||
Serio A,
|
||
Pilotto A,
|
||
Fergnani V,
|
||
Antoniazzi E,
|
||
Magrassi L,
|
||
Dore R,
|
||
Valentini A,
|
||
Preda L,
|
||
Calliada F,
|
||
Quaretti P,
|
||
Pirrelli S,
|
||
Kodama T,
|
||
Vricella L,
|
||
Cameron D,
|
||
Arbustini E</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2023 Mar 14;81(10):979-991.
|
||
doi: 10.1016/j.jacc.2023.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36889877" target="_blank">36889877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36680497">Periventricular heterotopia in a male child with USP9X missense variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Laurentiis A,
|
||
Ciaccio C,
|
||
Erbetta A,
|
||
Pinelli M,
|
||
Nigro V,
|
||
Pantaleoni C,
|
||
D'Arrigo S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 May;191(5):1350-1354.
|
||
Epub 2023 Jan 21
|
||
doi: 10.1002/ajmg.a.63123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36680497" target="_blank">36680497</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25557968">A brain and heart connection: X-linked periventricular heterotopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naviglio S,
|
||
Bruno I,
|
||
Zanus C,
|
||
Faletra F,
|
||
Ventura A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2015 Mar;166(3):776.
|
||
Epub 2014 Dec 31
|
||
doi: 10.1016/j.jpeds.2014.11.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25557968" target="_blank">25557968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15996530">Periventricular heterotopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu J,
|
||
Sheen V</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2005 Sep;7(2):143-9.
|
||
doi: 10.1016/j.yebeh.2005.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15996530" target="_blank">15996530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8290091">Periventricular heterotopia and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huttenlocher PR,
|
||
Taravath S,
|
||
Mojtahedi S</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1994 Jan;44(1):51-5.
|
||
doi: 10.1212/wnl.44.1.51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8290091" target="_blank">8290091</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Periventricular%20heterotopia%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 (41)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30549340">Role of magnetic resonance imaging in fetuses with mild or moderate ventriculomegaly in the era of fetal neurosonography: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Mascio D,
|
||
Sileo FG,
|
||
Khalil A,
|
||
Rizzo G,
|
||
Persico N,
|
||
Brunelli R,
|
||
Giancotti A,
|
||
Panici PB,
|
||
Acharya G,
|
||
D'Antonio F</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2019 Aug;54(2):164-171.
|
||
Epub 2019 Jul 11
|
||
doi: 10.1002/uog.20197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30549340" target="_blank">30549340</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28114705">Recurrence of Epileptic Spasms as Reflex Seizures Induced by Eating: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kobayashi Y,
|
||
Ishikawa N,
|
||
Tani H,
|
||
Fujii Y,
|
||
Kobayashi M</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2017 Apr;48(2):119-122.
|
||
Epub 2017 Jan 23
|
||
doi: 10.1055/s-0037-1598111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28114705" target="_blank">28114705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27248490">Early-life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Venkatesan C,
|
||
Angle B,
|
||
Millichap JJ</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2016 Jun 1;18(2):195-200.
|
||
doi: 10.1684/epd.2016.0828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27248490" target="_blank">27248490</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20637656">Absence epilepsy and periventricular nodular heterotopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Wit MC,
|
||
Schippers HM,
|
||
de Coo IF,
|
||
Arts WF,
|
||
Lequin MH,
|
||
Brooks A,
|
||
Visser GH,
|
||
Mancini GM</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2010 Sep;19(7):450-2.
|
||
Epub 2010 Jul 15
|
||
doi: 10.1016/j.seizure.2010.06.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20637656" target="_blank">20637656</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15165674">Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheen VL,
|
||
Basel-Vanagaite L,
|
||
Goodman JR,
|
||
Scheffer IE,
|
||
Bodell A,
|
||
Ganesh VS,
|
||
Ravenscroft R,
|
||
Hill RS,
|
||
Cherry TJ,
|
||
Shugart YY,
|
||
Barkovich J,
|
||
Straussberg R,
|
||
Walsh CA</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2004 Aug;26(5):326-34.
|
||
doi: 10.1016/j.braindev.2003.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15165674" target="_blank">15165674</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Periventricular%20heterotopia%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37545378">Stereoelectroencephalography-guided laser ablation in neocortical epilepsy: Electrophysiological correlations and outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aung T,
|
||
Grinenko O,
|
||
Li J,
|
||
Mosher JC,
|
||
Chauvel P,
|
||
Gonzalez-Martinez J</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2023 Nov;64(11):2993-3012.
|
||
Epub 2023 Sep 15
|
||
doi: 10.1111/epi.17739.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37545378" target="_blank">37545378</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36889877">Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giuliani L,
|
||
Di Toro A,
|
||
Urtis M,
|
||
Narula N,
|
||
Grasso M,
|
||
Pelenghi S,
|
||
Belliato M,
|
||
Bozzani A,
|
||
Arici V,
|
||
Pellegrini C,
|
||
Serio A,
|
||
Pilotto A,
|
||
Fergnani V,
|
||
Antoniazzi E,
|
||
Magrassi L,
|
||
Dore R,
|
||
Valentini A,
|
||
Preda L,
|
||
Calliada F,
|
||
Quaretti P,
|
||
Pirrelli S,
|
||
Kodama T,
|
||
Vricella L,
|
||
Cameron D,
|
||
Arbustini E</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2023 Mar 14;81(10):979-991.
|
||
doi: 10.1016/j.jacc.2023.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36889877" target="_blank">36889877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35792848">Magnetic resonance imaging features of isolated periventricular heterotopia in pediatric epilepsy: a comparative study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tittle BJ,
|
||
Maheshwari M,
|
||
Marashly A</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2022 Oct 1;24(5):795-802.
|
||
doi: 10.1684/epd.2022.1450.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35792848" target="_blank">35792848</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14970044">Early prenatal MR imaging diagnosis of polymicrogyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Righini A,
|
||
Zirpoli S,
|
||
Mrakic F,
|
||
Parazzini C,
|
||
Pogliani L,
|
||
Triulzi F</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2004 Feb;25(2):343-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14970044" target="_blank">14970044</a><a href="/pmc/articles/PMC7974610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10029345">Twins with different temporal lobe malformations: schizencephaly and arachnoid cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Briellmann RS,
|
||
Jackson GD,
|
||
Torn-Broers Y,
|
||
Berkovic SF</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1998 Dec;29(6):284-8.
|
||
doi: 10.1055/s-2007-973578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10029345" target="_blank">10029345</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Periventricular%20heterotopia%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 (18)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36889877">Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giuliani L,
|
||
Di Toro A,
|
||
Urtis M,
|
||
Narula N,
|
||
Grasso M,
|
||
Pelenghi S,
|
||
Belliato M,
|
||
Bozzani A,
|
||
Arici V,
|
||
Pellegrini C,
|
||
Serio A,
|
||
Pilotto A,
|
||
Fergnani V,
|
||
Antoniazzi E,
|
||
Magrassi L,
|
||
Dore R,
|
||
Valentini A,
|
||
Preda L,
|
||
Calliada F,
|
||
Quaretti P,
|
||
Pirrelli S,
|
||
Kodama T,
|
||
Vricella L,
|
||
Cameron D,
|
||
Arbustini E</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2023 Mar 14;81(10):979-991.
|
||
doi: 10.1016/j.jacc.2023.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36889877" target="_blank">36889877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35660364">The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu YT,
|
||
Hsu CY,
|
||
Liu YT,
|
||
Chan CK,
|
||
Chuang YC,
|
||
Lin CH,
|
||
Chang KP,
|
||
Ho CJ,
|
||
Ng CC,
|
||
Lim KS,
|
||
Tsai MH</span><br />
|
||
<span class="medgenPMjournal">Biomed J</span>
|
||
2022 Jun;45(3):542-548.
|
||
Epub 2021 May 20
|
||
doi: 10.1016/j.bj.2021.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35660364" target="_blank">35660364</a><a href="/pmc/articles/PMC9421925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34471972">Gray matter heterotopia: clinical and neuroimaging report on 22 children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Nora A,
|
||
Costanza G,
|
||
Pizzo F,
|
||
Oliva CF,
|
||
Di Mari A,
|
||
Greco F,
|
||
Pavone P</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2022 Feb;122(1):153-162.
|
||
Epub 2021 Sep 1
|
||
doi: 10.1007/s13760-021-01774-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34471972" target="_blank">34471972</a><a href="/pmc/articles/PMC8894204" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30517861">A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Neill AC,
|
||
Kyrousi C,
|
||
Klaus J,
|
||
Leventer RJ,
|
||
Kirk EP,
|
||
Fry A,
|
||
Pilz DT,
|
||
Morgan T,
|
||
Jenkins ZA,
|
||
Drukker M,
|
||
Berkovic SF,
|
||
Scheffer IE,
|
||
Guerrini R,
|
||
Markie DM,
|
||
Götz M,
|
||
Cappello S,
|
||
Robertson SP</span><br />
|
||
<span class="medgenPMjournal">Cell Rep</span>
|
||
2018 Dec 4;25(10):2729-2741.e6.
|
||
doi: 10.1016/j.celrep.2018.11.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30517861" target="_blank">30517861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25686753">Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Kogelenberg M,
|
||
Clark AR,
|
||
Jenkins Z,
|
||
Morgan T,
|
||
Anandan A,
|
||
Sawyer GM,
|
||
Edwards M,
|
||
Dudding T,
|
||
Homfray T,
|
||
Castle B,
|
||
Tolmie J,
|
||
Stewart F,
|
||
Kivuva E,
|
||
Pilz DT,
|
||
Gabbett M,
|
||
Sutherland-Smith AJ,
|
||
Robertson SP</span><br />
|
||
<span class="medgenPMjournal">J Mol Med (Berl)</span>
|
||
2015 Jul;93(7):773-82.
|
||
Epub 2015 Feb 18
|
||
doi: 10.1007/s00109-015-1261-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25686753" target="_blank">25686753</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Periventricular%20heterotopia%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 (32)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/30549340">Role of magnetic resonance imaging in fetuses with mild or moderate ventriculomegaly in the era of fetal neurosonography: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Mascio D,
|
||
Sileo FG,
|
||
Khalil A,
|
||
Rizzo G,
|
||
Persico N,
|
||
Brunelli R,
|
||
Giancotti A,
|
||
Panici PB,
|
||
Acharya G,
|
||
D'Antonio F</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2019 Aug;54(2):164-171.
|
||
Epub 2019 Jul 11
|
||
doi: 10.1002/uog.20197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30549340" target="_blank">30549340</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Periventricular%20heterotopia%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
||
|
||
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5399973%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C5399973%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5399973%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Periventricular%20heterotopia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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|
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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=(%22periventricular%20heterotopia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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=Periventricular%20heterotopia" 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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<li>
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<a href="/pubmed/clinical?term=Periventricular%20heterotopia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
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|
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<li>
|
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<a href="/pubmed?term=Periventricular%20heterotopia%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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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1766888" ref="log$=recordlinks">ClinVar</a>
|
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5399973[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5399973[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1766888" ref="log$=recordlinks">PMC Articles</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1766888" ref="log$=recordlinks">PubMed</a>
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|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d55d0784f3725e5951a7b1">Periventricular heterotopia</a>
|
||
<div class="ralinkpop offscreen_noflow">Periventricular heterotopia<div class="brieflinkpopdesc"></div></div>
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