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<!--
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UID=87488
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ConceptID=C0344505
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Alacrima</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87488</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.">C0344505</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>Alacrima (dry eye syndrome); Alacrima - hypolacrimation</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Alacrima (253215004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000522">HP:0000522</a></td></tr>
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|
||
<div class="portlet_content ln">Absence of tear secretion. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0344505[DISCUI]&test_type=Clinical" ref="ncbi_uid=87488">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">Alacrima</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868525" ref="tree=MeSH" title="MedGen record for Abnormal eye physiology">Abnormal eye physiology</a></span><ul><li><span class="TLline"><a href="/medgen/867427" ref="tree=MeSH" title="MedGen record for Lacrimation abnormality">Lacrimation abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/116004" ref="tree=MeSH" title="MedGen record for Decreased lacrimation">Decreased lacrimation</a></span><ul><li><span class="matched_ds">Alacrima</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_41678"><div><strong>Familial dysautonomia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41678</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:">C0013364</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vomiting attacks), recurrent pneumonia, altered pain sensitivity, altered temperature perception, and blood pressure instability. Hypotonia contributes to delay in acquisition of motor milestones. Optic neuropathy results in progressive vision loss. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Developmental delay / intellectual disability occur in about 21% of individuals. Life expectancy is decreased.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82889"><div><strong>Glucocorticoid deficiency with achalasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82889</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.">C0271742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood glucose (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two.\n\nMany of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).\n\nPeople with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time.\n\nPeople with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition.\n\nAlacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82889">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98032"><div><strong>Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98032</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.">C0406709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98032">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373160"><div><strong>PCWH syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373160</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.">C1836727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). Inoue et al. (2004) proposed the acronym PCWH for this disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373160">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_330880"><div><strong>Hereditary sensory and autonomic neuropathy type 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330880</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.">C1842586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN) in the absence of significant autonomic features, are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction. For a discussion of genetic heterogeneity of HSAN, see HSAN1A (162400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330880">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383794"><div><strong>Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383794</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.">C1855884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383794">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_477091"><div><strong>Syndromic X-linked intellectual disability 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477091</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.">C3275460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477091">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761278"><div><strong>Hereditary sensory and autonomic neuropathy type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761278</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.">C3539003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type VI (HSAN6) is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/761278">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_861034"><div><strong>Alacrima, congenital, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>861034</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.">C4012597</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/861034">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_891117"><div><strong>Glucocorticoid deficiency 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>891117</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.">C4049714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood (summary by Metherell et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/891117">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934803"><div><strong>Alacrima, congenital, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934803</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.">C4310836</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934803">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1385598"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type R18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385598</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.">C4517996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-18 (LGMDR18) is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1621482"><div><strong>HELIX syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621482</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.">C4522164</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HELIX syndrome is an autosomal recessive disorder characterized by Hypohidrosis, Electrolyte imbalance, Lacrimal gland dysfunction, Ichthyosis, and Xerostomia (summary by Hadj-Rabia et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1621482">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1640947"><div><strong>Alacrima, achalasia, and intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640947</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.">C4706563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (231550), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013). See also 300858 for a phenotypically similar disorder that shows X-linked inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640947">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684735"><div><strong>Developmental and epileptic encephalopathy, 77</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684735</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.">C5231405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months of life. Patients have severe global developmental delay, and may have additional variable features, including dysmorphic or coarse facial features, visual defects, and mild skeletal or renal anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by Starr et al., 2019). For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684735">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1756624"><div><strong>Deeah syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1756624</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.">C5436579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DEEAH syndrome is an autosomal recessive multisystemic disorder with onset in early infancy. Affected individuals usually present in the perinatal period with respiratory insufficiency, apneic episodes, and generalized hypotonia. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Other common features include endocrine, pancreatic exocrine, and autonomic dysfunction, as well as hematologic disturbances, mainly low hemoglobin. Patients also have dysmorphic and myopathic facial features. Additional more variable features include seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur (summary by Schneeberger et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1756624">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1776912"><div><strong>Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1776912</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.">C5436585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) is an autosomal recessive disorder characterized by global developmental delay and mildly to severely impaired intellectual development with poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. Aside from dysmorphic facial features and occasional findings such as scoliosis or undescended testes, other organ systems are not involved (summary by Schneeberger et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1776912">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1742639"><div><strong>Kilquist syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1742639</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.">C5436756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kilquist syndrome (KILQS) is an autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis (CF; 219700) (summary by Stodberg et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1742639">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1782278"><div><strong>Otofaciocervical syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782278</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.">C5442121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Otofaciocervical syndrome-2 with T-cell deficiency (OTFCS2) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013). Patients have been reported who also exhibit altered thymus development with T-cell immunodeficiency and recurrent, sometimes fatal, infections (Paganini et al., 2017; Yamazaki et al., 2020). For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (166780).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782278">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824059"><div><strong>Lacrimoauriculodentodigital syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824059</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.">C5774286</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lacrimoauriculodentodigital syndrome-2 (LADD2) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824059">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824060"><div><strong>Lacrimoauriculodentodigital syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824060</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.">C5774287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lacrimoauriculodentodigital syndrome-3 (LADD3) is a multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies (summary by Milunsky et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824060">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824096"><div><strong>LADD syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824096</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.">C5774323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824096">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_989503"><div><strong>Congenital disorder of deglycosylation 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989503</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN306977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989503">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1640947" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alacrima, achalasia, and intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alacrima, congenital, autosomal dominant</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_861034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alacrima, congenital, autosomal recessive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1385598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type R18</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_989503" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of deglycosylation 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1756624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deeah syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 77</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial dysautonomia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_891117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glucocorticoid deficiency 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glucocorticoid deficiency with achalasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1621482" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">HELIX syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary sensory and autonomic neuropathy type 1B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary sensory and autonomic neuropathy type 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1742639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kilquist syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824059" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lacrimoauriculodentodigital syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824060" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lacrimoauriculodentodigital syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824096" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LADD syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1776912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Otofaciocervical syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PCWH syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability 17</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32914730">Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang ZW,
|
||
Guo X,
|
||
Qi XP</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2021;21(3):534-543.
|
||
doi: 10.2174/1871530320666200910112230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32914730" target="_blank">32914730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32275123">Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rech ME,
|
||
McCarthy JM,
|
||
Chen CA,
|
||
Edmond JC,
|
||
Shah VS,
|
||
Bosch DGM,
|
||
Berry GT,
|
||
Williams L,
|
||
Madan-Khetarpal S,
|
||
Niyazov D,
|
||
Shaw-Smith C,
|
||
Kovar EM,
|
||
Lupo PJ,
|
||
Schaaf CP</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Jun;182(6):1426-1437.
|
||
Epub 2020 Apr 10
|
||
doi: 10.1002/ajmg.a.61580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32275123" target="_blank">32275123</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12752575">Triple A syndrome: genotype-phenotype assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prpic I,
|
||
Huebner A,
|
||
Persic M,
|
||
Handschug K,
|
||
Pavletic M</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2003 May;63(5):415-7.
|
||
doi: 10.1034/j.1399-0004.2003.00070.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12752575" target="_blank">12752575</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22alacrima%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</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/24668180">Surgical treatment of infantile achalasia: a case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Fallon SC,
|
||
Helmrath MA,
|
||
Gilger M,
|
||
Brandt ML</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2014 Jun;30(6):677-9.
|
||
Epub 2014 Mar 26
|
||
doi: 10.1007/s00383-014-3493-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24668180" target="_blank">24668180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23861206">Triple A syndrome in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ikeda M,
|
||
Hirano M,
|
||
Shinoda K,
|
||
Katsumata N,
|
||
Furutama D,
|
||
Nakamura K,
|
||
Ikeda S,
|
||
Tanaka T,
|
||
Hanafusa T,
|
||
Kitajima H,
|
||
Kohno H,
|
||
Nakagawa M,
|
||
Nakamura Y,
|
||
Ueno S</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2013 Sep;48(3):381-6.
|
||
Epub 2013 Jul 17
|
||
doi: 10.1002/mus.23770.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23861206" target="_blank">23861206</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23076455">Familial achalasia in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torab FC,
|
||
Hamchou M,
|
||
Ionescu G,
|
||
Al-Salem AH</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2012 Dec;28(12):1229-33.
|
||
Epub 2012 Oct 18
|
||
doi: 10.1007/s00383-012-3186-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23076455" target="_blank">23076455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18493131">Disorders of adrenal development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferraz-de-Souza B,
|
||
Achermann JC</span><br />
|
||
<span class="medgenPMjournal">Endocr Dev</span>
|
||
2008;13:19-32.
|
||
doi: 10.1159/000134753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18493131" target="_blank">18493131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10698592">ACTH resistance syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huebner A,
|
||
Elias LL,
|
||
Clark AJ</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
1999 Apr;12 Suppl 1:277-93.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10698592" target="_blank">10698592</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alacrima%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 (28)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34486478">Congenital alacrima.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Z,
|
||
Allen RC</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2022 Apr;41(2):162-169.
|
||
Epub 2021 Sep 5
|
||
doi: 10.1080/01676830.2021.1974057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34486478" target="_blank">34486478</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29120068">Diagnosis and genetics of alacrima.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams J,
|
||
Schaaf CP</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2018 Jul;94(1):54-60.
|
||
Epub 2018 Feb 5
|
||
doi: 10.1111/cge.13173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29120068" target="_blank">29120068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18493131">Disorders of adrenal development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferraz-de-Souza B,
|
||
Achermann JC</span><br />
|
||
<span class="medgenPMjournal">Endocr Dev</span>
|
||
2008;13:19-32.
|
||
doi: 10.1159/000134753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18493131" target="_blank">18493131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8196943">Lacrimal system abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore BD</span><br />
|
||
<span class="medgenPMjournal">Optom Vis Sci</span>
|
||
1994 Mar;71(3):182-3.
|
||
doi: 10.1097/00006324-199403000-00006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8196943" target="_blank">8196943</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/918840">Congenital alacrima.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davidoff E,
|
||
Friedman AH</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
1977 Sep-Oct;22(2):113-9.
|
||
doi: 10.1016/0039-6257(77)90091-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/918840" target="_blank">918840</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alacrima%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 (121)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34120625">Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asahina M,
|
||
Fujinawa R,
|
||
Hirayama H,
|
||
Tozawa R,
|
||
Kajii Y,
|
||
Suzuki T</span><br />
|
||
<span class="medgenPMjournal">Mol Brain</span>
|
||
2021 Jun 13;14(1):91.
|
||
doi: 10.1186/s13041-021-00806-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34120625" target="_blank">34120625</a><a href="/pmc/articles/PMC8201687" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29910458">Atypical Presentation of Adrenocortical Insufficiency with Anorexia and Jaundice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li XX,
|
||
Liu J,
|
||
Chen YL,
|
||
Chen GJ,
|
||
Wang ZY,
|
||
Zhu JJ,
|
||
Guo YW,
|
||
Wei XQ</span><br />
|
||
<span class="medgenPMjournal">Am J Case Rep</span>
|
||
2018 Jun 18;19:705-709.
|
||
doi: 10.12659/AJCR.909190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29910458" target="_blank">29910458</a><a href="/pmc/articles/PMC6042472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27411173">Achalasia: Outcome in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyer A,
|
||
Catto-Smith A,
|
||
Crameri J,
|
||
Simpson D,
|
||
Alex G,
|
||
Hardikar W,
|
||
Cameron D,
|
||
Oliver M</span><br />
|
||
<span class="medgenPMjournal">J Gastroenterol Hepatol</span>
|
||
2017 Feb;32(2):395-400.
|
||
doi: 10.1111/jgh.13484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27411173" target="_blank">27411173</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23073554">The genetic basis of triple A (Allgrove) syndrome in a Greek family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papageorgiou L,
|
||
Mimidis K,
|
||
Katsani KR,
|
||
Fakis G</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2013 Jan 10;512(2):505-9.
|
||
Epub 2012 Oct 13
|
||
doi: 10.1016/j.gene.2012.10.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23073554" target="_blank">23073554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16915903">Bilateral corneal perforation in an infant with congenital alacrima.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshita T,
|
||
Kobayashi A,
|
||
Sugiyama K</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2006 Jul-Aug;43(4):236-8.
|
||
doi: 10.3928/01913913-20060701-06.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16915903" target="_blank">16915903</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alacrima%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 (17)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27411173">Achalasia: Outcome in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyer A,
|
||
Catto-Smith A,
|
||
Crameri J,
|
||
Simpson D,
|
||
Alex G,
|
||
Hardikar W,
|
||
Cameron D,
|
||
Oliver M</span><br />
|
||
<span class="medgenPMjournal">J Gastroenterol Hepatol</span>
|
||
2017 Feb;32(2):395-400.
|
||
doi: 10.1111/jgh.13484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27411173" target="_blank">27411173</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27682707">Severe malnutrition causing superior mesenteric artery syndrome in an adolescent with Triple A syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Foster C,
|
||
Choudhary A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2016 Oct 1;29(10):1221-1224.
|
||
doi: 10.1515/jpem-2015-0373.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27682707" target="_blank">27682707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24651605">Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Enns GM,
|
||
Shashi V,
|
||
Bainbridge M,
|
||
Gambello MJ,
|
||
Zahir FR,
|
||
Bast T,
|
||
Crimian R,
|
||
Schoch K,
|
||
Platt J,
|
||
Cox R,
|
||
Bernstein JA,
|
||
Scavina M,
|
||
Walter RS,
|
||
Bibb A,
|
||
Jones M,
|
||
Hegde M,
|
||
Graham BH,
|
||
Need AC,
|
||
Oviedo A,
|
||
Schaaf CP,
|
||
Boyle S,
|
||
Butte AJ,
|
||
Chen R,
|
||
Chen R,
|
||
Clark MJ,
|
||
Haraksingh R;
|
||
FORGE Canada Consortium,
|
||
Cowan TM,
|
||
He P,
|
||
Langlois S,
|
||
Zoghbi HY,
|
||
Snyder M,
|
||
Gibbs RA,
|
||
Freeze HH,
|
||
Goldstein DB</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2014 Oct;16(10):751-8.
|
||
Epub 2014 Mar 20
|
||
doi: 10.1038/gim.2014.22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24651605" target="_blank">24651605</a><a href="/pmc/articles/PMC4243708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23073554">The genetic basis of triple A (Allgrove) syndrome in a Greek family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papageorgiou L,
|
||
Mimidis K,
|
||
Katsani KR,
|
||
Fakis G</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2013 Jan 10;512(2):505-9.
|
||
Epub 2012 Oct 13
|
||
doi: 10.1016/j.gene.2012.10.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23073554" target="_blank">23073554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6342189">Ocular and orbital involvement in leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kincaid MC,
|
||
Green WR</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
1983 Jan-Feb;27(4):211-32.
|
||
doi: 10.1016/0039-6257(83)90123-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6342189" target="_blank">6342189</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alacrima%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (30)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39206713">Development of new NGLY1 assay systems - toward developing an early screening method for NGLY1 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirayama H,
|
||
Fujihira H,
|
||
Suzuki T</span><br />
|
||
<span class="medgenPMjournal">Glycobiology</span>
|
||
2024 Sep 30;34(11)
|
||
doi: 10.1093/glycob/cwae067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39206713" target="_blank">39206713</a><a href="/pmc/articles/PMC11442003" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38281229">Trends of Pulmonary Embolism-Related Sudden Cardiac Death in the United States, 1999-2019.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zuin M,
|
||
Overvad TF,
|
||
Albertsen IE,
|
||
Bilato C,
|
||
Piazza G</span><br />
|
||
<span class="medgenPMjournal">J Thromb Thrombolysis</span>
|
||
2024 Mar;57(3):483-491.
|
||
Epub 2024 Jan 28
|
||
doi: 10.1007/s11239-024-02946-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38281229" target="_blank">38281229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37379343">NGLY1 deficiency: a prospective natural history study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tong S,
|
||
Ventola P,
|
||
Frater CH,
|
||
Klotz J,
|
||
Phillips JM,
|
||
Muppidi S,
|
||
Dwight SS,
|
||
Mueller WF,
|
||
Beahm BJ,
|
||
Wilsey M,
|
||
Lee KJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2023 Sep 5;32(18):2787-2796.
|
||
doi: 10.1093/hmg/ddad106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37379343" target="_blank">37379343</a><a href="/pmc/articles/PMC10481101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24996905">Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frishberg Y,
|
||
Zeharia A,
|
||
Lyakhovetsky R,
|
||
Bargal R,
|
||
Belostotsky R</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2014 Aug;51(8):526-9.
|
||
Epub 2014 Jul 4
|
||
doi: 10.1136/jmedgenet-2014-102529.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24996905" target="_blank">24996905</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23073554">The genetic basis of triple A (Allgrove) syndrome in a Greek family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papageorgiou L,
|
||
Mimidis K,
|
||
Katsani KR,
|
||
Fakis G</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2013 Jan 10;512(2):505-9.
|
||
Epub 2012 Oct 13
|
||
doi: 10.1016/j.gene.2012.10.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23073554" target="_blank">23073554</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alacrima%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 (30)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/32914730">Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang ZW,
|
||
Guo X,
|
||
Qi XP</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2021;21(3):534-543.
|
||
doi: 10.2174/1871530320666200910112230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32914730" target="_blank">32914730</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alacrima%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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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0344505%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
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<li><a href="/gtr/tests?term=C0344505%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0344505%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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