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<meta name="keywords" content="C1096902, disease or syndrome, free sialic acid storage disease, infantile form, french type sialuria, infantile form sialuria, infantile form sialurias, infantile free sialic acid storage disease, infantile sialic acid storage disease, infantile sialic acid storage disorder, infantile sialic acid storage disorder (issd), issd, n-acetylneuraminic acid storage disease, nana storage disease, sialic acid storage disease, infantile form, sialic acid storage disease, severe infantile type, sialic acid storage disorder, infantile, sialuria, infantile form, sialuria, infantile type, sialurias, infantile form, slc17a5, 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="Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Sialic acid storage disease, severe infantile type (Concept Id: C1096902)
- MedGen - NCBI</title>
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<!--
UID=203367
ConceptID=C1096902
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Sialic acid storage disease, severe infantile type<span class="h1sub">(ISSD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>203367</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)&#10;Click for more information.">C1096902</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>Free sialic acid storage disease, infantile form; Infantile Free Sialic Acid Storage Disease; Infantile Sialic Acid Storage Disease; INFANTILE SIALIC ACID STORAGE DISORDER; ISSD; N-ACETYLNEURAMINIC ACID STORAGE DISEASE; NANA STORAGE DISEASE; SIALURIA, INFANTILE FORM</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Infantile sialic acid storage disease (34566007); Sialic acid storage disease, severe infantile type (34566007); Sialuria, infantile type (34566007)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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)&#10;Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></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="SLC17A5 - ID: 26503 - NCBI Gene" href="/gene/26503" class="medgenPMinfo">SLC17A5</a> (6q13)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0010027" target="_blank">MONDO:0010027</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/269920" target="_blank">269920</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=309324">ORPHA309324</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_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1470" target="_blank">Free Sialic Acid Storage Disorders</a></div><div>Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1470#issd.Summary" target="NBK1470">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1470#issd.GeneReview_Scope" target="NBK1470">GeneReview Scope</a>  |  <a class="medgenPMinfo" href="/books/NBK1470#issd.Diagnosis" target="NBK1470">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1470#issd.Clinical_Characteristics" target="NBK1470">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1470#issd.Genetically_Related_Allelic_Disorde" target="NBK1470">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1470#issd.Differential_Diagnosis" target="NBK1470">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1470#issd.Management" target="NBK1470">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1470#issd.Genetic_Counseling" target="NBK1470">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1470#issd.Resources" target="NBK1470">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1470#issd.Molecular_Genetics" target="NBK1470">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1470#issd.Chapter_Notes" target="NBK1470">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1470#issd.References" target="NBK1470">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
David Adams  |  Melissa Wasserstein   <a href="/books/NBK1470" target="NBK1470" title="NCBI Bookshelf: Free Sialic Acid Storage Disorders">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).  <a target="_blank" href="http://www.omim.org/entry/269920">http://www.omim.org/entry/269920</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Free sialic acid storage disorder (FSASD) is an inherited condition that primarily affects the brain and spinal cord (central nervous system). The signs and symptoms of FSASD can vary from person to person, and the condition is often divided into three forms based on the severity of these features. <br /><br />The severe form of FSASD is called infantile free sialic acid storage disease or ISSD. The signs and symptoms of this form typically appear in infancy. In some cases, a condition called hydrops fetalis, in which excess fluid accumulates in the body, occurs before or soon after birth. Babies with the severe form of FSASD typically have severe developmental delays, weak muscle tone (hypotonia), and an inability to gain weight and grow at the expected rate (failure to thrive). Additional signs and symptoms may include unusual facial features that are often described as "coarse," bone malformations, an enlarged liver and spleen (hepatosplenomegaly), an enlarged heart (cardiomegaly), and seizures. Respiratory infections are common and can be life-threatening; children with the severe form of FSASD typically only survive into early childhood.<br /><br />Children with the least severe form of FSASD, also called Salla disease, may not have the signs and symptoms of the condition at birth. The age at which people develop the signs and symptoms of Salla disease can vary, but hypotonia usually appears during the first year of life. People with Salla disease typically have intellectual disabilities and developmental delays, which can make it difficult for them to learn to walk and talk. Additional signs and symptoms include problems with movement and balance (ataxia); abnormal tensing of the muscles (spasticity); and involuntary slow, writhing movements of the limbs (athetosis). Signs and symptoms typically worsen over time. Although life expectancy may be shortened, individuals with Salla disease often survive into adulthood.<br /><br />People with the intermediate form of FSASD, also called intermediate severe Salla disease, have signs and symptoms that are typically more severe than the signs and symptoms seen in people with Salla disease and less severe than those seen in people with ISSD.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/free-sialic-acid-storage-disorder">https://medlineplus.gov/genetics/condition/free-sialic-acid-storage-disorder</a></div></div>
</div>
<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_10308"><div><strong>Nephrotic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10308</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)&#10;Click for more information.">C0027726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10308">Feature record</a> | <a href="/medgen?term=%22Nephrotic%20syndrome%22%5BClinical%20Features%5D%20OR%2010308%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1762829"><div><strong>Abnormal foot morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1762829</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)&#10;Click for more information.">C5399834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of the skeleton of foot.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1762829">Feature record</a> | <a href="/medgen?term=%22Abnormal%20foot%20morphology%22%5BClinical%20Features%5D%20OR%201762829%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5459"><div><strong>Cardiomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5459</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)&#10;Click for more information.">C0018800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5459">Feature record</a> | <a href="/medgen?term=%22Cardiomegaly%22%5BClinical%20Features%5D%20OR%205459%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9169"><div><strong>Congestive heart failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9169</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)&#10;Click for more information.">C0018802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9169">Feature record</a> | <a href="/medgen?term=%22Congestive%20heart%20failure%22%5BClinical%20Features%5D%20OR%209169%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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)&#10;Click for more information.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_416"><div><strong>Ascites</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416</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)&#10;Click for more information.">C0003962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/416">Feature record</a> | <a href="/medgen?term=%22Ascites%22%5BClinical%20Features%5D%20OR%20416%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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)&#10;Click for more information.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally increased size of the liver.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</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)&#10;Click for more information.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%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)&#10;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_116012"><div><strong>Cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116012</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)&#10;Click for more information.">C0235946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116012">Feature record</a> | <a href="/medgen?term=%22Cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20116012%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)&#10;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_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)&#10;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_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</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)&#10;Click for more information.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_325478"><div><strong>Metaphyseal irregularity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325478</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)&#10;Click for more information.">C1838662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Irregularity of the normally smooth surface of the metaphyses.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/325478">Feature record</a> | <a href="/medgen?term=%22Metaphyseal%20irregularity%22%5BClinical%20Features%5D%20OR%20325478%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_381480"><div><strong>J-shaped sella turcica</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381480</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)&#10;Click for more information.">C1854718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/381480">Feature record</a> | <a href="/medgen?term=%22J-shaped%20sella%20turcica%22%5BClinical%20Features%5D%20OR%20381480%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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)&#10;Click for more information.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_867424"><div><strong>Abnormal thorax morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867424</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)&#10;Click for more information.">C4021797</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/867424">Feature record</a> | <a href="/medgen?term=%22Abnormal%20thorax%20morphology%22%5BClinical%20Features%5D%20OR%20867424%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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)&#10;Click for more information.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_332307"><div><strong>Vacuolated lymphocytes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332307</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)&#10;Click for more information.">C1836855</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/332307">Feature record</a> | <a href="/medgen?term=%22Vacuolated%20lymphocytes%22%5BClinical%20Features%5D%20OR%20332307%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_82787"><div><strong>Conjugated hyperbilirubinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82787</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)&#10;Click for more information.">C0268307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally high level of conjugated bilirubin in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82787">Feature record</a> | <a href="/medgen?term=%22Conjugated%20hyperbilirubinemia%22%5BClinical%20Features%5D%20OR%2082787%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)&#10;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_87712"><div><strong>Gingival overgrowth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87712</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)&#10;Click for more information.">C0376480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87712">Feature record</a> | <a href="/medgen?term=%22Gingival%20overgrowth%22%5BClinical%20Features%5D%20OR%2087712%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_151862"><div><strong>Epicanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151862</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)&#10;Click for more information.">C0678230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/151862">Feature record</a> | <a href="/medgen?term=%22Epicanthus%22%5BClinical%20Features%5D%20OR%20151862%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</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)&#10;Click for more information.">C1840077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_335284"><div><strong>Coarse facial features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335284</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)&#10;Click for more information.">C1845847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335284">Feature record</a> | <a href="/medgen?term=%22Coarse%20facial%20features%22%5BClinical%20Features%5D%20OR%20335284%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_102477"><div><strong>Hypopigmentation of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>102477</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)&#10;Click for more information.">C0162835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A reduction of skin color related to a decrease in melanin production and deposition.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/102477">Feature record</a> | <a href="/medgen?term=%22Hypopigmentation%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%20102477%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_336542"><div><strong>Fair hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336542</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)&#10;Click for more information.">C1849221</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A lesser degree of hair pigmentation than would otherwise be expected.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336542">Feature record</a> | <a href="/medgen?term=%22Fair%20hair%22%5BClinical%20Features%5D%20OR%20336542%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6947"><div><strong>Hydrops fetalis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6947</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)&#10;Click for more information.">C0020305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6947">Feature record</a> | <a href="/medgen?term=%22Hydrops%20fetalis%22%5BClinical%20Features%5D%20OR%206947%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57721"><div><strong>Premature birth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57721</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)&#10;Click for more information.">C0151526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">The birth of a baby of less than 37 weeks of gestational age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57721">Feature record</a> | <a href="/medgen?term=%22Premature%20birth%22%5BClinical%20Features%5D%20OR%2057721%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</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)&#10;Click for more information.">C0005745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%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)&#10;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="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarse facial features</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_151862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epicanthus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gingival overgrowth</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></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_1762829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal foot morphology</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conjugated hyperbilirubinemia</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6947" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrops fetalis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57721" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature birth</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomegaly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congestive heart failure</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ascites</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</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_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrotic syndrome</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332307" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vacuolated lymphocytes</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_336542" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fair hair</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_102477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypopigmentation of the skin</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_867424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal thorax morphology</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><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_381480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">J-shaped sella turcica</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_325478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal irregularity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</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_116012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral atrophy</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_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</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></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931872[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=419512">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/419512" ref="tree=GTR&amp;ncbi_uid=419512&amp;link_uid=419512" title="View MedGen record for 'Free sialic acid storage disease'">Free sialic acid storage disease</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/1843217" ref="tree=GTR&amp;ncbi_uid=1843217&amp;link_uid=1843217" title="View MedGen record for 'Intermediate severe Salla disease'">Intermediate severe Salla disease</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1096903[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=203368">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=203368" target="_blank" href="/omim/604322">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1470/" ref="ncbi_uid=203368">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=203368" ref="ncbi_uid=203368">V</a></span></span><span class="TLline"><a href="/medgen/203368" ref="tree=GTR&amp;ncbi_uid=203368&amp;link_uid=203368" title="View MedGen record for 'Salla disease'">Salla disease</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1096902[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=203367">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=203367" target="_blank" href="/omim/269920">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1470/" ref="ncbi_uid=203367">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=203367" ref="ncbi_uid=203367">V</a></span></span><span class="TLline">Sialic acid storage disease, severe infantile type</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342853[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=137980">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=137980" target="_blank" href="/omim/269921">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=137980" ref="ncbi_uid=137980">V</a></span></span><span class="TLline"><a href="/medgen/137980" ref="tree=GTR&amp;ncbi_uid=137980&amp;link_uid=137980" title="View MedGen record for 'Sialuria'">Sialuria</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842266" ref="tree=MeSH" title="MedGen record for Inborn disorder of lysosomal amino acid transport">Inborn disorder of lysosomal amino acid transport</a></span><ul><li><span class="TLline"><a href="/medgen/419512" ref="tree=MeSH" title="MedGen record for Free sialic acid storage disease">Free sialic acid storage disease</a></span><ul><li><span class="matched_ds">Sialic acid storage disease, severe infantile type</span></li></ul></li></ul></li></ul></div></div></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/32003481">Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Taconet S,
Dreux S,
Guimiot F,
Pettazzoni M,
Allaf B,
Spaggiari E,
Rosenblatt J,
Khung-Savatovsky S</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
2020 Apr;40(5):605-611.
Epub 2020 Feb 11
doi: 10.1002/pd.5657.
<span class="bold">PMID: </span><a href="/pubmed/32003481" target="_blank">32003481</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16715535">Prenatal diagnosis of free sialic acid storage disorders (SASD).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aula N,
Aula P</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
2006 Aug;26(8):655-8.
doi: 10.1002/pd.1431.
<span class="bold">PMID: </span><a href="/pubmed/16715535" target="_blank">16715535</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3809113">Prenatal diagnosis and confirmation of infantile sialic acid storage disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vamos E,
Libert J,
Elkhazen N,
Jauniaux E,
Hustin J,
Wilkin P,
Baumkötter J,
Mendla K,
Cantz M,
Strecker G</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
1986 Nov-Dec;6(6):437-46.
doi: 10.1002/pd.1970060607.
<span class="bold">PMID: </span><a href="/pubmed/3809113" target="_blank">3809113</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(sialic%20acid%20storage%20disease%2C%20severe%20infantile%20type)%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 (7)</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/39322377">Lysosomal storage diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Burlina AP,
Manara R,
Gueraldi D</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2024;204:147-172.
doi: 10.1016/B978-0-323-99209-1.00008-9.
<span class="bold">PMID: </span><a href="/pubmed/39322377" target="_blank">39322377</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33862140">Free sialic acid storage disorder: Progress and promise.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huizing M,
Hackbarth ME,
Adams DR,
Wasserstein M,
Patterson MC,
Walkley SU,
Gahl WA;
FSASD Consortium</span><br />
<span class="medgenPMjournal">Neurosci Lett</span>
2021 Jun 11;755:135896.
Epub 2021 Apr 20
doi: 10.1016/j.neulet.2021.135896.
<span class="bold">PMID: </span><a href="/pubmed/33862140" target="_blank">33862140</a><a href="/pmc/articles/PMC8175077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32389669">Inherited disorders of lysosomal membrane transporters.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huizing M,
Gahl WA</span><br />
<span class="medgenPMjournal">Biochim Biophys Acta Biomembr</span>
2020 Dec 1;1862(12):183336.
Epub 2020 May 8
doi: 10.1016/j.bbamem.2020.183336.
<span class="bold">PMID: </span><a href="/pubmed/32389669" target="_blank">32389669</a><a href="/pmc/articles/PMC7508925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29140481">Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Robak LA,
Jansen IE,
van Rooij J,
Uitterlinden AG,
Kraaij R,
Jankovic J;
International Parkinson’s Disease Genomics Consortium (IPDGC),
Heutink P,
Shulman JM</span><br />
<span class="medgenPMjournal">Brain</span>
2017 Dec 1;140(12):3191-3203.
doi: 10.1093/brain/awx285.
<span class="bold">PMID: </span><a href="/pubmed/29140481" target="_blank">29140481</a><a href="/pmc/articles/PMC5841393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2122119">Disorders of glycoprotein degradation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cantz M,
Ulrich-Bott B</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
1990;13(4):523-37.
doi: 10.1007/BF01799510.
<span class="bold">PMID: </span><a href="/pubmed/2122119" target="_blank">2122119</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sialic%20acid%20storage%20disease%2C%20severe%20infantile%20type%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 (45)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35796883">Psychiatric symptoms in Salla disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aulanko I,
Rahikkala E,
Moilanen J</span><br />
<span class="medgenPMjournal">Eur Child Adolesc Psychiatry</span>
2023 Oct;32(10):2043-2047.
Epub 2022 Jul 7
doi: 10.1007/s00787-022-02031-5.
<span class="bold">PMID: </span><a href="/pubmed/35796883" target="_blank">35796883</a><a href="/pmc/articles/PMC10533638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33862140">Free sialic acid storage disorder: Progress and promise.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huizing M,
Hackbarth ME,
Adams DR,
Wasserstein M,
Patterson MC,
Walkley SU,
Gahl WA;
FSASD Consortium</span><br />
<span class="medgenPMjournal">Neurosci Lett</span>
2021 Jun 11;755:135896.
Epub 2021 Apr 20
doi: 10.1016/j.neulet.2021.135896.
<span class="bold">PMID: </span><a href="/pubmed/33862140" target="_blank">33862140</a><a href="/pmc/articles/PMC8175077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32389669">Inherited disorders of lysosomal membrane transporters.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huizing M,
Gahl WA</span><br />
<span class="medgenPMjournal">Biochim Biophys Acta Biomembr</span>
2020 Dec 1;1862(12):183336.
Epub 2020 May 8
doi: 10.1016/j.bbamem.2020.183336.
<span class="bold">PMID: </span><a href="/pubmed/32389669" target="_blank">32389669</a><a href="/pmc/articles/PMC7508925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22422206">Lysosomal disorders associated with leukoencephalopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Renaud DL</span><br />
<span class="medgenPMjournal">Semin Neurol</span>
2012 Feb;32(1):51-4.
Epub 2012 Mar 15
doi: 10.1055/s-0032-1306386.
<span class="bold">PMID: </span><a href="/pubmed/22422206" target="_blank">22422206</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15973781">Disorders of free sialic acid.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Suwannarat P</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2005 Jun;85(2):85-7.
doi: 10.1016/j.ymgme.2005.04.005.
<span class="bold">PMID: </span><a href="/pubmed/15973781" target="_blank">15973781</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sialic%20acid%20storage%20disease%2C%20severe%20infantile%20type%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 (97)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/35796883">Psychiatric symptoms in Salla disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aulanko I,
Rahikkala E,
Moilanen J</span><br />
<span class="medgenPMjournal">Eur Child Adolesc Psychiatry</span>
2023 Oct;32(10):2043-2047.
Epub 2022 Jul 7
doi: 10.1007/s00787-022-02031-5.
<span class="bold">PMID: </span><a href="/pubmed/35796883" target="_blank">35796883</a><a href="/pmc/articles/PMC10533638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34851695">The CD22-IGF2R interaction is a therapeutic target for microglial lysosome dysfunction in Niemann-Pick type C.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pluvinage JV,
Sun J,
Claes C,
Flynn RA,
Haney MS,
Iram T,
Meng X,
Lindemann R,
Riley NM,
Danhash E,
Chadarevian JP,
Tapp E,
Gate D,
Kondapavulur S,
Cobos I,
Chetty S,
Pașca AM,
Pașca SP,
Berry-Kravis E,
Bertozzi CR,
Blurton-Jones M,
Wyss-Coray T</span><br />
<span class="medgenPMjournal">Sci Transl Med</span>
2021 Dec;13(622):eabg2919.
Epub 2021 Dec 1
doi: 10.1126/scitranslmed.abg2919.
<span class="bold">PMID: </span><a href="/pubmed/34851695" target="_blank">34851695</a><a href="/pmc/articles/PMC9067636" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30568043">Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wen XY,
Tarailo-Graovac M,
Brand-Arzamendi K,
Willems A,
Rakic B,
Huijben K,
Da Silva A,
Pan X,
El-Rass S,
Ng R,
Selby K,
Philip AM,
Yun J,
Ye XC,
Ross CJ,
Lehman AM,
Zijlstra F,
Abu Bakar N,
Drögemöller B,
Moreland J,
Wasserman WW,
Vallance H,
van Scherpenzeel M,
Karbassi F,
Hoskings M,
Engelke U,
de Brouwer A,
Wevers RA,
Pshezhetsky AV,
van Karnebeek CD,
Lefeber DJ</span><br />
<span class="medgenPMjournal">JCI Insight</span>
2018 Dec 20;3(24)
doi: 10.1172/jci.insight.122373.
<span class="bold">PMID: </span><a href="/pubmed/30568043" target="_blank">30568043</a><a href="/pmc/articles/PMC6338320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24781369">A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chung YK,
Sohn YB,
Sohn JM,
Lee J,
Chang MS,
Kwun Y,
Kim CH,
Lee JY,
Yook YJ,
Ko AR,
Jin DK</span><br />
<span class="medgenPMjournal">Glycoconj J</span>
2014 May;31(4):309-15.
Epub 2014 Apr 30
doi: 10.1007/s10719-014-9523-0.
<span class="bold">PMID: </span><a href="/pubmed/24781369" target="_blank">24781369</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18751922">Glycosphingolipid disorders of the brain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boomkamp SD,
Butters TD</span><br />
<span class="medgenPMjournal">Subcell Biochem</span>
2008;49:441-67.
doi: 10.1007/978-1-4020-8831-5_17.
<span class="bold">PMID: </span><a href="/pubmed/18751922" target="_blank">18751922</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sialic%20acid%20storage%20disease%2C%20severe%20infantile%20type%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37713976">Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chapleau A,
Mirchi A,
Tran LT,
Poulin C,
Bernard G</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2023 Nov;148:133-137.
Epub 2023 Aug 19
doi: 10.1016/j.pediatrneurol.2023.08.013.
<span class="bold">PMID: </span><a href="/pubmed/37713976" target="_blank">37713976</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15516337">Varied mechanisms underlie the free sialic acid storage disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wreden CC,
Wlizla M,
Reimer RJ</span><br />
<span class="medgenPMjournal">J Biol Chem</span>
2005 Jan 14;280(2):1408-16.
Epub 2004 Oct 29
doi: 10.1074/jbc.M411295200.
<span class="bold">PMID: </span><a href="/pubmed/15516337" target="_blank">15516337</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12709150">Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tylki-Szymańska A,
Czartoryska B,
Lugowska A,
Verheijen FW,
Mancini GM,
Rokicki D,
Taybert J,
Chmielíńska E</span><br />
<span class="medgenPMjournal">Pediatr Int</span>
2003 Apr;45(2):199-200.
doi: 10.1046/j.1442-200x.2003.01693.x.
<span class="bold">PMID: </span><a href="/pubmed/12709150" target="_blank">12709150</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12637289">Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Parazzini C,
Arena S,
Marchetti L,
Menni F,
Filocamo M,
Verheijen FW,
Mancini GM,
Triulzi F,
Parini R</span><br />
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
2003 Mar;24(3):398-400.
<span class="bold">PMID: </span><a href="/pubmed/12637289" target="_blank">12637289</a><a href="/pmc/articles/PMC7973609" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10645471">Hydrops fetalis: lysosomal storage disorders in extremis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stone DL,
Sidransky E</span><br />
<span class="medgenPMjournal">Adv Pediatr</span>
1999;46:409-40.
<span class="bold">PMID: </span><a href="/pubmed/10645471" target="_blank">10645471</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sialic%20acid%20storage%20disease%2C%20severe%20infantile%20type%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 (28)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37713976">Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chapleau A,
Mirchi A,
Tran LT,
Poulin C,
Bernard G</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2023 Nov;148:133-137.
Epub 2023 Aug 19
doi: 10.1016/j.pediatrneurol.2023.08.013.
<span class="bold">PMID: </span><a href="/pubmed/37713976" target="_blank">37713976</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36000484">Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Donoghue SE,
Heath O,
Pitt J,
Hong KM,
Fuller M,
Smith J</span><br />
<span class="medgenPMjournal">Clin Chem Lab Med</span>
2022 Oct 26;60(11):1855-1858.
Epub 2022 Aug 25
doi: 10.1515/cclm-2022-0473.
<span class="bold">PMID: </span><a href="/pubmed/36000484" target="_blank">36000484</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15516337">Varied mechanisms underlie the free sialic acid storage disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wreden CC,
Wlizla M,
Reimer RJ</span><br />
<span class="medgenPMjournal">J Biol Chem</span>
2005 Jan 14;280(2):1408-16.
Epub 2004 Oct 29
doi: 10.1074/jbc.M411295200.
<span class="bold">PMID: </span><a href="/pubmed/15516337" target="_blank">15516337</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9307889">Gangliosides and autoimmune diabetes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Misasi R,
Dionisi S,
Farilla L,
Carabba B,
Lenti L,
Di Mario U,
Dotta F</span><br />
<span class="medgenPMjournal">Diabetes Metab Rev</span>
1997 Sep;13(3):163-79.
doi: 10.1002/(sici)1099-0895(199709)13:3&lt;163::aid-dmr189&gt;3.0.co;2-z.
<span class="bold">PMID: </span><a href="/pubmed/9307889" target="_blank">9307889</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1817039">Sialic acid storage disorders: observations on clinical and biochemical variation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mancini GM,
Verheijen FW,
Beerens CE,
Renlund M,
Aula P</span><br />
<span class="medgenPMjournal">Dev Neurosci</span>
1991;13(4-5):327-30.
doi: 10.1159/000112181.
<span class="bold">PMID: </span><a href="/pubmed/1817039" target="_blank">1817039</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sialic%20acid%20storage%20disease%2C%20severe%20infantile%20type%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 (36)</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/34057202">Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Iyer NS,
Gimovsky AC,
Ferreira CR,
Critchlow E,
Al-Kouatly HB</span><br />
<span class="medgenPMjournal">Clin Genet</span>
2021 Nov;100(5):493-503.
Epub 2021 Jul 16
doi: 10.1111/cge.14005.
<span class="bold">PMID: </span><a href="/pubmed/34057202" target="_blank">34057202</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sialic%20acid%20storage%20disease%2C%20severe%20infantile%20type%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
<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>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1096902%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (26)</a></li>
<li><a href="/gtr/tests?term=C1096902%5bDISCUI%5d&amp;filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
<li><a href="/gtr/tests?term=C1096902%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
<li><a href="/gtr/tests?term=C1096902%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (30)</a></li>
<li><a href="/gtr/tests?term=C1096902%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1096902%5bDISCUI%5d" target="_blank">See all (36)</a></total></li>
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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>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=269920" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=309324" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Sialic%20acid%20storage%20disease,%20severe%20infantile%20type" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(sialic%20acid%20storage%20disease%2C%20severe%20infantile%20type)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Sialic%20acid%20storage%20disease%2C%20severe%20infantile%20type%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=604322" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=26503[geneid]" target="_blank">View SLC17A5 variations in ClinVar</a></li><li><a href="/nuccore/194394163" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=269920" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Salla+disease/6400" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/infantile_sialic_acid_storage_disease" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Sialic%20acid%20storage%20disease,%20severe%20infantile%20type" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/free-sialic-acid-storage-disorder" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/175/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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