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<meta name="keywords" content="C5882689, disease or syndrome, gabbr1, nedlc, neurodevelopmental disorder with language delay and variable cognitive abnormalities, 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="Neurodevelopmental disorder with language delay and variable cognitive abnormalities (NEDLC) is a phenotypically heterogeneous neurologic disorder. Affected individuals may show early motor delay, speech and language delay, impaired intellectual development, learning disabilities, and/or behavioral abnormalities, although the severity and manifestations vary widely. Repetitive behavior and sleep difficulties are commonly present. More severe features include seizures, hypotonia, ocular abnormalities, dysmorphic features, and psychiatric comorbidities (Cediel et al., 2022)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1850358
|
||
ConceptID=C5882689
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with language delay and variable cognitive abnormalities<span class="h1sub">(NEDLC)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1850358</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:">C5882689</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>NEDLC</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GABBR1 - ID: 2550 - NCBI Gene" href="/gene/2550" class="medgenPMinfo">GABBR1</a> (6p22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0957779" target="_blank">MONDO:0957779</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620502" target="_blank">620502</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Neurodevelopmental disorder with language delay and variable cognitive abnormalities (NEDLC) is a phenotypically heterogeneous neurologic disorder. Affected individuals may show early motor delay, speech and language delay, impaired intellectual development, learning disabilities, and/or behavioral abnormalities, although the severity and manifestations vary widely. Repetitive behavior and sleep difficulties are commonly present. More severe features include seizures, hypotonia, ocular abnormalities, dysmorphic features, and psychiatric comorbidities (Cediel et al., 2022). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_754509"><div><strong>Encopresis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>754509</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.">C2945606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/754509">Feature record</a> | <a href="/medgen?term=%22Encopresis%22%5BClinical%20Features%5D%20OR%20754509%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340456"><div><strong>Clinodactyly of the 5th finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340456</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.">C1850049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340456">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%20of%20the%205th%20finger%22%5BClinical%20Features%5D%20OR%20340456%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868511"><div><strong>Increased femoral anteversion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868511</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.">C4022909</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868511">Feature record</a> | <a href="/medgen?term=%22Increased%20femoral%20anteversion%22%5BClinical%20Features%5D%20OR%20868511%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52372"><div><strong>Sleep abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52372</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.">C0037317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal pattern in the quality, quantity, or characteristics of sleep.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52372">Feature record</a> | <a href="/medgen?term=%22Sleep%20abnormality%22%5BClinical%20Features%5D%20OR%2052372%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</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.">C0038271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</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.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341441"><div><strong>Wide nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341441</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.">C1849367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased breadth of the nasal bridge (and with it, the nasal root).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341441">Feature record</a> | <a href="/medgen?term=%22Wide%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20341441%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351278"><div><strong>Long philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351278</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.">C1865014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351278">Feature record</a> | <a href="/medgen?term=%22Long%20philtrum%22%5BClinical%20Features%5D%20OR%20351278%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56250"><div><strong>Dry skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56250</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.">C0151908</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Skin characterized by the lack of natural or normal moisture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56250">Feature record</a> | <a href="/medgen?term=%22Dry%20skin%22%5BClinical%20Features%5D%20OR%2056250%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66368"><div><strong>Nail dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66368</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.">C0221260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66368">Feature record</a> | <a href="/medgen?term=%22Nail%20dystrophy%22%5BClinical%20Features%5D%20OR%2066368%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_137901"><div><strong>Optic nerve hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137901</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.">C0338502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the optic nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137901">Feature record</a> | <a href="/medgen?term=%22Optic%20nerve%20hypoplasia%22%5BClinical%20Features%5D%20OR%20137901%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nasal bridge</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly of the 5th finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased femoral anteversion</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_137901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic nerve hypoplasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56250" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dry skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dystrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sleep abnormality</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_754509" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encopresis</a></span></li></ul></li></ul></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/36293418">Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miroševič Š,
|
||
Khandelwal S,
|
||
Sušjan P,
|
||
Žakelj N,
|
||
Gosar D,
|
||
Forstnerič V,
|
||
Lainšček D,
|
||
Jerala R,
|
||
Osredkar D</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Oct 19;23(20)
|
||
doi: 10.3390/ijms232012564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36293418" target="_blank">36293418</a><a href="/pmc/articles/PMC9604177" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17389127">A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ousley O,
|
||
Rockers K,
|
||
Dell ML,
|
||
Coleman K,
|
||
Cubells JF</span><br />
|
||
<span class="medgenPMjournal">Curr Psychiatry Rep</span>
|
||
2007 Apr;9(2):148-58.
|
||
doi: 10.1007/s11920-007-0085-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17389127" target="_blank">17389127</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodevelopmental%20disorder%20with%20language%20delay%20and%20variable%20cognitive%20abnormalities)%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/38703861">Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frye RE,
|
||
Rincon N,
|
||
McCarty PJ,
|
||
Brister D,
|
||
Scheck AC,
|
||
Rossignol DA</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2024 Jul;197:106520.
|
||
Epub 2024 May 3
|
||
doi: 10.1016/j.nbd.2024.106520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38703861" target="_blank">38703861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36293418">Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miroševič Š,
|
||
Khandelwal S,
|
||
Sušjan P,
|
||
Žakelj N,
|
||
Gosar D,
|
||
Forstnerič V,
|
||
Lainšček D,
|
||
Jerala R,
|
||
Osredkar D</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Oct 19;23(20)
|
||
doi: 10.3390/ijms232012564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36293418" target="_blank">36293418</a><a href="/pmc/articles/PMC9604177" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30348076">Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joseph L,
|
||
Farmer C,
|
||
Chlebowski C,
|
||
Henry L,
|
||
Fish A,
|
||
Mankiw C,
|
||
Xenophontos A,
|
||
Clasen L,
|
||
Sauls B,
|
||
Seidlitz J,
|
||
Blumenthal J,
|
||
Torres E,
|
||
Thurm A,
|
||
Raznahan A</span><br />
|
||
<span class="medgenPMjournal">J Neurodev Disord</span>
|
||
2018 Oct 22;10(1):30.
|
||
doi: 10.1186/s11689-018-9248-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30348076" target="_blank">30348076</a><a href="/pmc/articles/PMC6198503" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30005318">Atypical language characteristics and trajectories in children with 22q11.2 deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Den Heuvel E,
|
||
Manders E,
|
||
Swillen A,
|
||
Zink I</span><br />
|
||
<span class="medgenPMjournal">J Commun Disord</span>
|
||
2018 Sep-Oct;75:37-56.
|
||
Epub 2018 Jun 5
|
||
doi: 10.1016/j.jcomdis.2018.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30005318" target="_blank">30005318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25989227">Developmental trajectories in 22q11.2 deletion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swillen A,
|
||
McDonald-McGinn D</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2015 Jun;169(2):172-81.
|
||
Epub 2015 May 18
|
||
doi: 10.1002/ajmg.c.31435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25989227" target="_blank">25989227</a><a href="/pmc/articles/PMC5061035" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20variable%20cognitive%20abnormalities%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 (54)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38703861">Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frye RE,
|
||
Rincon N,
|
||
McCarty PJ,
|
||
Brister D,
|
||
Scheck AC,
|
||
Rossignol DA</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2024 Jul;197:106520.
|
||
Epub 2024 May 3
|
||
doi: 10.1016/j.nbd.2024.106520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38703861" target="_blank">38703861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33045862">Bilingualism in children with a dual diagnosis of Down syndrome and Autism Spectrum Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ward R,
|
||
Sanoudaki E</span><br />
|
||
<span class="medgenPMjournal">Clin Linguist Phon</span>
|
||
2021 Jul 3;35(7):663-689.
|
||
Epub 2020 Oct 12
|
||
doi: 10.1080/02699206.2020.1818288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33045862" target="_blank">33045862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31579823">Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo H,
|
||
Li Y,
|
||
Shen L,
|
||
Wang T,
|
||
Jia X,
|
||
Liu L,
|
||
Xu T,
|
||
Ou M,
|
||
Hoekzema K,
|
||
Wu H,
|
||
Gillentine MA,
|
||
Liu C,
|
||
Ni H,
|
||
Peng P,
|
||
Zhao R,
|
||
Zhang Y,
|
||
Phornphutkul C,
|
||
Stegmann APA,
|
||
Prada CE,
|
||
Hopkin RJ,
|
||
Shieh JT,
|
||
McWalter K,
|
||
Monaghan KG,
|
||
van Hasselt PM,
|
||
van Gassen K,
|
||
Bai T,
|
||
Long M,
|
||
Han L,
|
||
Quan Y,
|
||
Chen M,
|
||
Zhang Y,
|
||
Li K,
|
||
Zhang Q,
|
||
Tan J,
|
||
Zhu T,
|
||
Liu Y,
|
||
Pang N,
|
||
Peng J,
|
||
Scott DA,
|
||
Lalani SR,
|
||
Azamian M,
|
||
Mancini GMS,
|
||
Adams DJ,
|
||
Kvarnung M,
|
||
Lindstrand A,
|
||
Nordgren A,
|
||
Pevsner J,
|
||
Osei-Owusu IA,
|
||
Romano C,
|
||
Calabrese G,
|
||
Galesi O,
|
||
Gecz J,
|
||
Haan E,
|
||
Ranells J,
|
||
Racobaldo M,
|
||
Nordenskjold M,
|
||
Madan-Khetarpal S,
|
||
Sebastian J,
|
||
Ball S,
|
||
Zou X,
|
||
Zhao J,
|
||
Hu Z,
|
||
Xia F,
|
||
Liu P,
|
||
Rosenfeld JA,
|
||
de Vries BBA,
|
||
Bernier RA,
|
||
Xu ZD,
|
||
Li H,
|
||
Xie W,
|
||
Hufnagel RB,
|
||
Eichler EE,
|
||
Xia K</span><br />
|
||
<span class="medgenPMjournal">Sci Adv</span>
|
||
2019 Sep;5(9):eaax2166.
|
||
Epub 2019 Sep 25
|
||
doi: 10.1126/sciadv.aax2166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31579823" target="_blank">31579823</a><a href="/pmc/articles/PMC6760934" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31189616">Neurodevelopmental and Academic Outcomes in Children With Orofacial Clefts: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gallagher ER,
|
||
Collett BR</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2019 Jul;144(1)
|
||
Epub 2019 Jun 12
|
||
doi: 10.1542/peds.2018-4027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31189616" target="_blank">31189616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15823980">22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Antshel KM,
|
||
Kates WR,
|
||
Roizen N,
|
||
Fremont W,
|
||
Shprintzen RJ</span><br />
|
||
<span class="medgenPMjournal">Child Neuropsychol</span>
|
||
2005 Feb;11(1):5-19.
|
||
doi: 10.1080/09297040590911185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15823980" target="_blank">15823980</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20variable%20cognitive%20abnormalities%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 (47)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35076652">Pre-operative neurodevelopmental assessment in young children undergoing cardiac surgery in central South Africa: feasibility and clinical value.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith R,
|
||
Ntsiea V,
|
||
Brown S,
|
||
Potterton J</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc J Afr</span>
|
||
2022 May-Jun 23;33(3):145-152.
|
||
Epub 2022 Jan 13
|
||
doi: 10.5830/CVJA-2021-057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35076652" target="_blank">35076652</a><a href="/pmc/articles/PMC9540317" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32220052">Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Samango-Sprouse CA,
|
||
Tran SL,
|
||
Lasutschinkow PC,
|
||
Sadeghin T,
|
||
Powell S,
|
||
Mitchell FL,
|
||
Gropman A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Aug;182(8):1881-1889.
|
||
Epub 2020 Mar 27
|
||
doi: 10.1002/ajmg.a.61561.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32220052" target="_blank">32220052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30348076">Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joseph L,
|
||
Farmer C,
|
||
Chlebowski C,
|
||
Henry L,
|
||
Fish A,
|
||
Mankiw C,
|
||
Xenophontos A,
|
||
Clasen L,
|
||
Sauls B,
|
||
Seidlitz J,
|
||
Blumenthal J,
|
||
Torres E,
|
||
Thurm A,
|
||
Raznahan A</span><br />
|
||
<span class="medgenPMjournal">J Neurodev Disord</span>
|
||
2018 Oct 22;10(1):30.
|
||
doi: 10.1186/s11689-018-9248-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30348076" target="_blank">30348076</a><a href="/pmc/articles/PMC6198503" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21718458">Implementation of a routine developmental follow-up program for children with congenital heart disease: early results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soto CB,
|
||
Olude O,
|
||
Hoffmann RG,
|
||
Bear L,
|
||
Chin A,
|
||
Dasgupta M,
|
||
Mussatto K</span><br />
|
||
<span class="medgenPMjournal">Congenit Heart Dis</span>
|
||
2011 Sep-Oct;6(5):451-60.
|
||
Epub 2011 Jul 1
|
||
doi: 10.1111/j.1747-0803.2011.00546.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21718458" target="_blank">21718458</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21557785">Severity of hyperacusis predicts individual differences in speech perception in Williams Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elsabbagh M,
|
||
Cohen H,
|
||
Cohen M,
|
||
Rosen S,
|
||
Karmiloff-Smith A</span><br />
|
||
<span class="medgenPMjournal">J Intellect Disabil Res</span>
|
||
2011 Jun;55(6):563-71.
|
||
Epub 2011 Mar 15
|
||
doi: 10.1111/j.1365-2788.2011.01411.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21557785" target="_blank">21557785</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20variable%20cognitive%20abnormalities%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38703861">Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frye RE,
|
||
Rincon N,
|
||
McCarty PJ,
|
||
Brister D,
|
||
Scheck AC,
|
||
Rossignol DA</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2024 Jul;197:106520.
|
||
Epub 2024 May 3
|
||
doi: 10.1016/j.nbd.2024.106520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38703861" target="_blank">38703861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35561519">Scoring of brain magnetic resonance imaging and neurodevelopmental outcomes in infants with congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhattacharjee I,
|
||
Mohamed MA,
|
||
Nandakumar V,
|
||
Friedman NR,
|
||
Ruggieri P,
|
||
Aly H</span><br />
|
||
<span class="medgenPMjournal">Early Hum Dev</span>
|
||
2022 Jun;169:105574.
|
||
Epub 2022 Apr 25
|
||
doi: 10.1016/j.earlhumdev.2022.105574.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35561519" target="_blank">35561519</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34548125">Predictors of behavioural and emotional outcomes in toddlers with congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jilek E,
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Shields A,
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Zhang L,
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Simpson P,
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Bear L,
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Martins SA,
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Mussatto KA,
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<span class="medgenPMjournal">Cardiol Young</span>
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2022 Aug;32(8):1216-1221.
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Epub 2021 Sep 22
|
||
doi: 10.1017/S1047951121003942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34548125" target="_blank">34548125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33513338">Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">den Hoed J,
|
||
de Boer E,
|
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Voisin N,
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||
Dingemans AJM,
|
||
Guex N,
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Wiel L,
|
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Nellaker C,
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Amudhavalli SM,
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Banka S,
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Bena FS,
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Ben-Zeev B,
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Bonagura VR,
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Bruel AL,
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Brunet T,
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Brunner HG,
|
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Chew HB,
|
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Chrast J,
|
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Cimbalistienė L,
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Coon H;
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DDD Study,
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Délot EC,
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Démurger F,
|
||
Denommé-Pichon AS,
|
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Depienne C,
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Donnai D,
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Dyment DA,
|
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Elpeleg O,
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Faivre L,
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Gilissen C,
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Granger L,
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||
Haber B,
|
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Hachiya Y,
|
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Abedi YH,
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Hanebeck J,
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Hehir-Kwa JY,
|
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Horist B,
|
||
Itai T,
|
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Jackson A,
|
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Jewell R,
|
||
Jones KL,
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Joss S,
|
||
Kashii H,
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||
Kato M,
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||
Kattentidt-Mouravieva AA,
|
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Kok F,
|
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Kotzaeridou U,
|
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Krishnamurthy V,
|
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Kučinskas V,
|
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Kuechler A,
|
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Lavillaureix A,
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Liu P,
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Manwaring L,
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Matsumoto N,
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Mazel B,
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McWalter K,
|
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Meiner V,
|
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Mikati MA,
|
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Miyatake S,
|
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Mizuguchi T,
|
||
Moey LH,
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Mohammed S,
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Mor-Shaked H,
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Mountford H,
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Newbury-Ecob R,
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Odent S,
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Orec L,
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Osmond M,
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Palculict TB,
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||
Parker M,
|
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Petersen AK,
|
||
Pfundt R,
|
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Preikšaitienė E,
|
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Radtke K,
|
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Ranza E,
|
||
Rosenfeld JA,
|
||
Santiago-Sim T,
|
||
Schwager C,
|
||
Sinnema M,
|
||
Snijders Blok L,
|
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Spillmann RC,
|
||
Stegmann APA,
|
||
Thiffault I,
|
||
Tran L,
|
||
Vaknin-Dembinsky A,
|
||
Vedovato-Dos-Santos JH,
|
||
Schrier Vergano SA,
|
||
Vilain E,
|
||
Vitobello A,
|
||
Wagner M,
|
||
Waheeb A,
|
||
Willing M,
|
||
Zuccarelli B,
|
||
Kini U,
|
||
Newbury DF,
|
||
Kleefstra T,
|
||
Reymond A,
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||
Fisher SE,
|
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Vissers LELM</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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||
2021 Feb 4;108(2):346-356.
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||
Epub 2021 Jan 28
|
||
doi: 10.1016/j.ajhg.2021.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33513338" target="_blank">33513338</a><a href="/pmc/articles/PMC7895900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25989227">Developmental trajectories in 22q11.2 deletion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swillen A,
|
||
McDonald-McGinn D</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2015 Jun;169(2):172-81.
|
||
Epub 2015 May 18
|
||
doi: 10.1002/ajmg.c.31435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25989227" target="_blank">25989227</a><a href="/pmc/articles/PMC5061035" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20variable%20cognitive%20abnormalities%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 (30)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38703861">Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frye RE,
|
||
Rincon N,
|
||
McCarty PJ,
|
||
Brister D,
|
||
Scheck AC,
|
||
Rossignol DA</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2024 Jul;197:106520.
|
||
Epub 2024 May 3
|
||
doi: 10.1016/j.nbd.2024.106520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38703861" target="_blank">38703861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36293418">Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miroševič Š,
|
||
Khandelwal S,
|
||
Sušjan P,
|
||
Žakelj N,
|
||
Gosar D,
|
||
Forstnerič V,
|
||
Lainšček D,
|
||
Jerala R,
|
||
Osredkar D</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Oct 19;23(20)
|
||
doi: 10.3390/ijms232012564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36293418" target="_blank">36293418</a><a href="/pmc/articles/PMC9604177" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33513338">Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">den Hoed J,
|
||
de Boer E,
|
||
Voisin N,
|
||
Dingemans AJM,
|
||
Guex N,
|
||
Wiel L,
|
||
Nellaker C,
|
||
Amudhavalli SM,
|
||
Banka S,
|
||
Bena FS,
|
||
Ben-Zeev B,
|
||
Bonagura VR,
|
||
Bruel AL,
|
||
Brunet T,
|
||
Brunner HG,
|
||
Chew HB,
|
||
Chrast J,
|
||
Cimbalistienė L,
|
||
Coon H;
|
||
DDD Study,
|
||
Délot EC,
|
||
Démurger F,
|
||
Denommé-Pichon AS,
|
||
Depienne C,
|
||
Donnai D,
|
||
Dyment DA,
|
||
Elpeleg O,
|
||
Faivre L,
|
||
Gilissen C,
|
||
Granger L,
|
||
Haber B,
|
||
Hachiya Y,
|
||
Abedi YH,
|
||
Hanebeck J,
|
||
Hehir-Kwa JY,
|
||
Horist B,
|
||
Itai T,
|
||
Jackson A,
|
||
Jewell R,
|
||
Jones KL,
|
||
Joss S,
|
||
Kashii H,
|
||
Kato M,
|
||
Kattentidt-Mouravieva AA,
|
||
Kok F,
|
||
Kotzaeridou U,
|
||
Krishnamurthy V,
|
||
Kučinskas V,
|
||
Kuechler A,
|
||
Lavillaureix A,
|
||
Liu P,
|
||
Manwaring L,
|
||
Matsumoto N,
|
||
Mazel B,
|
||
McWalter K,
|
||
Meiner V,
|
||
Mikati MA,
|
||
Miyatake S,
|
||
Mizuguchi T,
|
||
Moey LH,
|
||
Mohammed S,
|
||
Mor-Shaked H,
|
||
Mountford H,
|
||
Newbury-Ecob R,
|
||
Odent S,
|
||
Orec L,
|
||
Osmond M,
|
||
Palculict TB,
|
||
Parker M,
|
||
Petersen AK,
|
||
Pfundt R,
|
||
Preikšaitienė E,
|
||
Radtke K,
|
||
Ranza E,
|
||
Rosenfeld JA,
|
||
Santiago-Sim T,
|
||
Schwager C,
|
||
Sinnema M,
|
||
Snijders Blok L,
|
||
Spillmann RC,
|
||
Stegmann APA,
|
||
Thiffault I,
|
||
Tran L,
|
||
Vaknin-Dembinsky A,
|
||
Vedovato-Dos-Santos JH,
|
||
Schrier Vergano SA,
|
||
Vilain E,
|
||
Vitobello A,
|
||
Wagner M,
|
||
Waheeb A,
|
||
Willing M,
|
||
Zuccarelli B,
|
||
Kini U,
|
||
Newbury DF,
|
||
Kleefstra T,
|
||
Reymond A,
|
||
Fisher SE,
|
||
Vissers LELM</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2021 Feb 4;108(2):346-356.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1016/j.ajhg.2021.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33513338" target="_blank">33513338</a><a href="/pmc/articles/PMC7895900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31189616">Neurodevelopmental and Academic Outcomes in Children With Orofacial Clefts: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gallagher ER,
|
||
Collett BR</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2019 Jul;144(1)
|
||
Epub 2019 Jun 12
|
||
doi: 10.1542/peds.2018-4027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31189616" target="_blank">31189616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25989227">Developmental trajectories in 22q11.2 deletion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swillen A,
|
||
McDonald-McGinn D</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2015 Jun;169(2):172-81.
|
||
Epub 2015 May 18
|
||
doi: 10.1002/ajmg.c.31435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25989227" target="_blank">25989227</a><a href="/pmc/articles/PMC5061035" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20variable%20cognitive%20abnormalities%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 (47)</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/38703861">Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frye RE,
|
||
Rincon N,
|
||
McCarty PJ,
|
||
Brister D,
|
||
Scheck AC,
|
||
Rossignol DA</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2024 Jul;197:106520.
|
||
Epub 2024 May 3
|
||
doi: 10.1016/j.nbd.2024.106520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38703861" target="_blank">38703861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36293418">Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miroševič Š,
|
||
Khandelwal S,
|
||
Sušjan P,
|
||
Žakelj N,
|
||
Gosar D,
|
||
Forstnerič V,
|
||
Lainšček D,
|
||
Jerala R,
|
||
Osredkar D</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Oct 19;23(20)
|
||
doi: 10.3390/ijms232012564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36293418" target="_blank">36293418</a><a href="/pmc/articles/PMC9604177" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31189616">Neurodevelopmental and Academic Outcomes in Children With Orofacial Clefts: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gallagher ER,
|
||
Collett BR</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2019 Jul;144(1)
|
||
Epub 2019 Jun 12
|
||
doi: 10.1542/peds.2018-4027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31189616" target="_blank">31189616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23311314">Neuropsychological profile of agenesis of the corpus callosum: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siffredi V,
|
||
Anderson V,
|
||
Leventer RJ,
|
||
Spencer-Smith MM</span><br />
|
||
<span class="medgenPMjournal">Dev Neuropsychol</span>
|
||
2013;38(1):36-57.
|
||
doi: 10.1080/87565641.2012.721421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23311314" target="_blank">23311314</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20language%20delay%20and%20variable%20cognitive%20abnormalities%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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="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://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=620502" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Neurodevelopmental%20disorder%20with%20language%20delay%20and%20variable%20cognitive%20abnormalities" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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