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<meta name="keywords" content="C5562024, afg2b, disease or syndrome, nedhls, neurodevelopmental disorder with hearing loss and spasticity, 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 hearing loss and spasticity (NEDHLS) is characterized by hearing loss, global developmental delay/impaired intellectual development, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly. Some children present with hypotonia (Richard et al., 2021)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1794234
|
||
ConceptID=C5562024
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with hearing loss and spasticity<span class="h1sub">(NEDHLS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794234</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:">C5562024</span></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>NEDHLS; NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY</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="AFG2B - ID: 79029 - NCBI Gene" href="/gene/79029" class="medgenPMinfo">AFG2B</a> (15q21.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0859206" target="_blank">MONDO:0859206</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619616" target="_blank">619616</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>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) is characterized by hearing loss, global developmental delay/impaired intellectual development, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly. Some children present with hypotonia (Richard et al., 2021). [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">
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<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_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6072"><div><strong>Periventricular leukomalacia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6072</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.">C0023529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6072">Feature record</a> | <a href="/medgen?term=%22Periventricular%20leukomalacia%22%5BClinical%20Features%5D%20OR%206072%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%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_56345"><div><strong>Spastic hemiparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56345</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.">C0154694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56345">Feature record</a> | <a href="/medgen?term=%22Spastic%20hemiparesis%22%5BClinical%20Features%5D%20OR%2056345%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</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.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98433"><div><strong>Spastic tetraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98433</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.">C0426970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paralysis affecting all four limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98433">Feature record</a> | <a href="/medgen?term=%22Spastic%20tetraplegia%22%5BClinical%20Features%5D%20OR%2098433%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</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.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_199670"><div><strong>Focal-onset seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199670</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.">C0751495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/199670">Feature record</a> | <a href="/medgen?term=%22Focal-onset%20seizure%22%5BClinical%20Features%5D%20OR%20199670%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_854616"><div><strong>Infantile spasms</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854616</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.">C3887898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854616">Feature record</a> | <a href="/medgen?term=%22Infantile%20spasms%22%5BClinical%20Features%5D%20OR%20854616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866575"><div><strong>Enlarged sylvian cistern</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866575</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.">C4020921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866575">Feature record</a> | <a href="/medgen?term=%22Enlarged%20sylvian%20cistern%22%5BClinical%20Features%5D%20OR%20866575%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385688"><div><strong>Generalized non-motor (absence) seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385688</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.">C4316903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385688">Feature record</a> | <a href="/medgen?term=%22Generalized%20non-motor%20(absence)%20seizure%22%5BClinical%20Features%5D%20OR%201385688%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</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.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%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_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</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.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140836"><div><strong>Telecanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140836</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.">C0423113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140836">Feature record</a> | <a href="/medgen?term=%22Telecanthus%22%5BClinical%20Features%5D%20OR%20140836%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326956"><div><strong>Narrow forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326956</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.">C1839758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326956">Feature record</a> | <a href="/medgen?term=%22Narrow%20forehead%22%5BClinical%20Features%5D%20OR%20326956%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_331280"><div><strong>Low anterior hairline</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331280</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.">C1842366</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331280">Feature record</a> | <a href="/medgen?term=%22Low%20anterior%20hairline%22%5BClinical%20Features%5D%20OR%20331280%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339521"><div><strong>Thick upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339521</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.">C1846423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339521">Feature record</a> | <a href="/medgen?term=%22Thick%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20339521%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_890568"><div><strong>Cerebral visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>890568</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.">C4048268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/890568">Feature record</a> | <a href="/medgen?term=%22Cerebral%20visual%20impairment%22%5BClinical%20Features%5D%20OR%20890568%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_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low anterior hairline</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telecanthus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339521" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick upper lip vermilion</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_890568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral visual impairment</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_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</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_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866575" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enlarged sylvian cistern</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_199670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal-onset seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized non-motor (absence) seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile spasms</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_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periventricular leukomalacia</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_56345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic hemiparesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraplegia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li></ul></li></ul></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/38959649">A Clinical Neurological Approach to the Child With Adenosine Deaminase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ivarola P,
|
||
Urdinez L,
|
||
Oleastro M,
|
||
Labonia D,
|
||
Roizen M,
|
||
Caraballo R,
|
||
Tenembaum S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2024 Sep;158:49-56.
|
||
Epub 2024 Jun 8
|
||
doi: 10.1016/j.pediatrneurol.2024.05.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38959649" target="_blank">38959649</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38118446">Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salpietro V,
|
||
Maroofian R,
|
||
Zaki MS,
|
||
Wangen J,
|
||
Ciolfi A,
|
||
Barresi S,
|
||
Efthymiou S,
|
||
Lamaze A,
|
||
Aughey GN,
|
||
Al Mutairi F,
|
||
Rad A,
|
||
Rocca C,
|
||
Calì E,
|
||
Accogli A,
|
||
Zara F,
|
||
Striano P,
|
||
Mojarrad M,
|
||
Tariq H,
|
||
Giacopuzzi E,
|
||
Taylor JC,
|
||
Oprea G,
|
||
Skrahina V,
|
||
Rehman KU,
|
||
Abd Elmaksoud M,
|
||
Bassiony M,
|
||
El Said HG,
|
||
Abdel-Hamid MS,
|
||
Al Shalan M,
|
||
Seo G,
|
||
Kim S,
|
||
Lee H,
|
||
Khang R,
|
||
Issa MY,
|
||
Elbendary HM,
|
||
Rafat K,
|
||
Marinakis NM,
|
||
Traeger-Synodinos J,
|
||
Ververi A,
|
||
Sourmpi M,
|
||
Eslahi A,
|
||
Khadivi Zand F,
|
||
Beiraghi Toosi M,
|
||
Babaei M,
|
||
Jackson A;
|
||
SYNAPS Study Group,
|
||
Bertoli-Avella A,
|
||
Pagnamenta AT,
|
||
Niceta M,
|
||
Battini R,
|
||
Corsello A,
|
||
Leoni C,
|
||
Chiarelli F,
|
||
Dallapiccola B,
|
||
Faqeih EA,
|
||
Tallur KK,
|
||
Alfadhel M,
|
||
Alobeid E,
|
||
Maddirevula S,
|
||
Mankad K,
|
||
Banka S,
|
||
Ghayoor-Karimiani E,
|
||
Tartaglia M,
|
||
Chung WK,
|
||
Green R,
|
||
Alkuraya FS,
|
||
Jepson JEC,
|
||
Houlden H</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2024 Jan 4;111(1):200-210.
|
||
Epub 2023 Dec 20
|
||
doi: 10.1016/j.ajhg.2023.11.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38118446" target="_blank">38118446</a><a href="/pmc/articles/PMC10806450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32741967">Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alharby E,
|
||
Faqeih EA,
|
||
Saleh M,
|
||
Alameer S,
|
||
Almuntashri M,
|
||
Pastore A,
|
||
Samman MA,
|
||
Alnawfal AM,
|
||
Hashem M,
|
||
Zaytuni D,
|
||
Alharbi G,
|
||
Almannai M,
|
||
Alasmari A,
|
||
Mahmoud AA,
|
||
Alwadei AH,
|
||
Jad L,
|
||
AlOtaibi A,
|
||
Al-Hakami F,
|
||
Eyaid W,
|
||
Alkuraya FS,
|
||
Alfadhel M,
|
||
Peake RWA,
|
||
Almontashiri NAM</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Dec;22(12):2071-2080.
|
||
Epub 2020 Aug 3
|
||
doi: 10.1038/s41436-020-0919-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32741967" target="_blank">32741967</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29205472">Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maas RR,
|
||
Iwanicka-Pronicka K,
|
||
Kalkan Ucar S,
|
||
Alhaddad B,
|
||
AlSayed M,
|
||
Al-Owain MA,
|
||
Al-Zaidan HI,
|
||
Balasubramaniam S,
|
||
Barić I,
|
||
Bubshait DK,
|
||
Burlina A,
|
||
Christodoulou J,
|
||
Chung WK,
|
||
Colombo R,
|
||
Darin N,
|
||
Freisinger P,
|
||
Garcia Silva MT,
|
||
Grunewald S,
|
||
Haack TB,
|
||
van Hasselt PM,
|
||
Hikmat O,
|
||
Hörster F,
|
||
Isohanni P,
|
||
Ramzan K,
|
||
Kovacs-Nagy R,
|
||
Krumina Z,
|
||
Martin-Hernandez E,
|
||
Mayr JA,
|
||
McClean P,
|
||
De Meirleir L,
|
||
Naess K,
|
||
Ngu LH,
|
||
Pajdowska M,
|
||
Rahman S,
|
||
Riordan G,
|
||
Riley L,
|
||
Roeben B,
|
||
Rutsch F,
|
||
Santer R,
|
||
Schiff M,
|
||
Seders M,
|
||
Sequeira S,
|
||
Sperl W,
|
||
Staufner C,
|
||
Synofzik M,
|
||
Taylor RW,
|
||
Trubicka J,
|
||
Tsiakas K,
|
||
Unal O,
|
||
Wassmer E,
|
||
Wedatilake Y,
|
||
Wolff T,
|
||
Prokisch H,
|
||
Morava E,
|
||
Pronicka E,
|
||
Wevers RA,
|
||
de Brouwer AP,
|
||
Wortmann SB</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2017 Dec;82(6):1004-1015.
|
||
doi: 10.1002/ana.25110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29205472" target="_blank">29205472</a><a href="/pmc/articles/PMC5847115" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16761450">Cerebral palsy: comprehensive review and update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jan MM</span><br />
|
||
<span class="medgenPMjournal">Ann Saudi Med</span>
|
||
2006 Mar-Apr;26(2):123-32.
|
||
doi: 10.5144/0256-4947.2006.123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16761450" target="_blank">16761450</a><a href="/pmc/articles/PMC6074141" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20hearing%20loss%20and%20spasticity%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 (22)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38959649">A Clinical Neurological Approach to the Child With Adenosine Deaminase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ivarola P,
|
||
Urdinez L,
|
||
Oleastro M,
|
||
Labonia D,
|
||
Roizen M,
|
||
Caraballo R,
|
||
Tenembaum S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2024 Sep;158:49-56.
|
||
Epub 2024 Jun 8
|
||
doi: 10.1016/j.pediatrneurol.2024.05.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38959649" target="_blank">38959649</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37043503">Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calame DG,
|
||
Moreno Vadillo C,
|
||
Berger S,
|
||
Lotze T,
|
||
Shinawi M,
|
||
Poupak J,
|
||
Heller C,
|
||
Cohen J,
|
||
Person R,
|
||
Telegrafi A,
|
||
Phitsanuwong C,
|
||
Fiala K,
|
||
Thiffault I,
|
||
Del Viso F,
|
||
Zhou D,
|
||
Fleming EA,
|
||
Pastinen T,
|
||
Fatemi A,
|
||
Thomas S,
|
||
Pascual SI,
|
||
Torres RJ,
|
||
Prior C,
|
||
Gómez-González C,
|
||
Biskup S,
|
||
Lupski JR,
|
||
Maric D,
|
||
Holmgren M,
|
||
Regier D,
|
||
Yano ST</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Aug 1;146(8):3162-3171.
|
||
doi: 10.1093/brain/awad124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37043503" target="_blank">37043503</a><a href="/pmc/articles/PMC10393399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32684373">MEGDEL Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Scorza FA,
|
||
Fiorini AC,
|
||
Scorza CA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2020 Sep;110:25-29.
|
||
Epub 2020 Jul 16
|
||
doi: 10.1016/j.pediatrneurol.2020.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32684373" target="_blank">32684373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14718706">A novel mutation in SACS gene in a family from southern Italy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Criscuolo C,
|
||
Banfi S,
|
||
Orio M,
|
||
Gasparini P,
|
||
Monticelli A,
|
||
Scarano V,
|
||
Santorelli FM,
|
||
Perretti A,
|
||
Santoro L,
|
||
De Michele G,
|
||
Filla A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2004 Jan 13;62(1):100-2.
|
||
doi: 10.1212/wnl.62.1.100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14718706" target="_blank">14718706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2080709">Cataract, hearing loss and hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nucci P,
|
||
Mets MB</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol (Copenh)</span>
|
||
1990 Dec;68(6):739-42.
|
||
doi: 10.1111/j.1755-3768.1990.tb01705.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2080709" target="_blank">2080709</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20hearing%20loss%20and%20spasticity%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 (22)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26297943">Neurodevelopmental outcome at 2 years in twin-twin transfusion syndrome survivors randomized for the Solomon trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Klink JM,
|
||
Slaghekke F,
|
||
Balestriero MA,
|
||
Scelsa B,
|
||
Introvini P,
|
||
Rustico M,
|
||
Faiola S,
|
||
Rijken M,
|
||
Koopman HM,
|
||
Middeldorp JM,
|
||
Oepkes D,
|
||
Lopriore E</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2016 Jan;214(1):113.e1-7.
|
||
Epub 2015 Aug 20
|
||
doi: 10.1016/j.ajog.2015.08.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26297943" target="_blank">26297943</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22120147">The neurology of carbonic anhydrase type II deficiency syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bosley TM,
|
||
Salih MA,
|
||
Alorainy IA,
|
||
Islam MZ,
|
||
Oystreck DT,
|
||
Suliman OS,
|
||
al Malki S,
|
||
Suhaibani AH,
|
||
Khiari H,
|
||
Beckers S,
|
||
van Wesenbeeck L,
|
||
Perdu B,
|
||
AlDrees A,
|
||
Elmalik SA,
|
||
Van Hul W,
|
||
Abu-Amero KK</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2011 Dec;134(Pt 12):3502-15.
|
||
Epub 2011 Nov 26
|
||
doi: 10.1093/brain/awr302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22120147" target="_blank">22120147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9394865">Cerebrovascular complications and neurodevelopmental sequelae of neonatal ECMO.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graziani LJ,
|
||
Gringlas M,
|
||
Baumgart S</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
1997 Sep;24(3):655-75.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9394865" target="_blank">9394865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7482082">The outcome at 12 months of very-low-birth-weight infants ventilated at Tygerberg Hospital.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirsten GF,
|
||
van Zyl JI,
|
||
le Grange M,
|
||
Ancker E,
|
||
van Zyl F</span><br />
|
||
<span class="medgenPMjournal">S Afr Med J</span>
|
||
1995 Jul;85(7):649-54.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7482082" target="_blank">7482082</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3681958">Cystathioninuria in a profoundly mentally retarded woman with spastic tetraplegia, deafness and abnormal liver function tests.</a></div>
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20hearing%20loss%20and%20spasticity%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>
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|
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<div class="nl"><a target="_blank" href="/pubmed/28842795">X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Miyake N,
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Wolf NI,
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Cayami FK,
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Crawford J,
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Hahn A,
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<span class="bold">PMID: </span><a href="/pubmed/28842795" target="_blank">28842795</a><a href="/pmc/articles/PMC5705759" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26299366">Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20hearing%20loss%20and%20spasticity%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 (21)</a></div></div>
|
||
</div>
|
||
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cd3938f4a390645ef0fc89">Neurodevelopmental disorder with hearing loss and spasticity</a>
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