MedlinePlus: Genetic Conditions

<!DOCTYPE html> <html lang="en" id="general" class="nojs us" data-root="https://medlineplus.gov/"> <head> <meta charset="utf-8" /> <meta http-equiv="X-UA-Compatible" content="IE=edge,chrome=1" /> <meta http-equiv="window-target" content="_top" /> <meta http-equiv="Content-Type" content="text/html; charset=UTF-8" /> <meta name="viewport" content="width=device-width, initial-scale=1" /> <link rel="canonical" href="https://medlineplus.gov/genetics/condition/" /> <link href="https://medlineplus.gov/genetics/condition/" hreflang="x-default" rel="alternate"> <meta name="ac-dictionary" content="medlineplus-ac-dictionary" /> <link rel="shortcut icon" href="https://medlineplus.gov/images/favicon.ico" type="image/x-icon" /> <link rel="apple-touch-icon" href="https://medlineplus.gov/images/touch-icon.png" /> <meta property="fb:app_id" content="1042245625821448" /> <meta property="og:title" content="MedlinePlus: Genetic Conditions" /> <meta property="og:url" content="https://medlineplus.gov/genetics/condition/" /> <meta property="og:image" content="https://medlineplus.gov/images/GeneticCondition_Share.jpg" /> <title>MedlinePlus: Genetic Conditions</title> <link rel="stylesheet" href="https://medlineplus.gov/css/common_new.css?1732338418201" />  <link rel="stylesheet" href="https://medlineplus.gov/uswds/css/uswds_styles.css" /> <link rel="stylesheet" href="https://medlineplus.gov/utilities/lostatic.css"> <script type="text/javascript">document.getElementsByTagName('html')[0].className = document.getElementsByTagName('html')[0].className.replace( /(?:^|\s)nojs(?!\S)/g , '').trim();</script> <script src="https://medlineplus.gov/uswds/js/uswds-init.min.js" type="text/javascript"></script> <script>(function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start': new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0], j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src= 'https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f); })(window,document,'script','dataLayer','GTM-MMVM77');</script> </head> <body> <noscript><iframe src="https://www.googletagmanager.com/ns.html?id=GTM-MMVM77" height="0" width="0" style="display:none;visibility:hidden" title="googletagmanager"></iframe></noscript> <a name="top" id="top"></a> <a class="hide-offscreen" href="#start">Skip navigation</a> <section class="usa-banner" aria-label="Official website of the United States government" > <div class="usa-accordion"> <header class="usa-banner__header"> <div class="usa-banner__inner"> <div class="grid-col-auto"> <img aria-hidden="true" class="usa-banner__header-flag" src="https://medlineplus.gov/uswds/img/us_flag_small.png" alt="" /> </div> <div class="grid-col-fill tablet:grid-col-auto" aria-hidden="true"> An official website of the United States government Here鈥檚 how you know </div> <button type="button" class="usa-accordion__button usa-banner__button" aria-expanded="false" aria-controls="gov-banner-default-default" > Here鈥檚 how you know </button> </div> </header> <div class="usa-banner__content usa-accordion__content" id="gov-banner-default-default" > <div class="grid-row grid-gap-lg"> <div class="usa-banner__guidance tablet:grid-col-6"> <img class="usa-banner__icon usa-media-block__img" src="https://medlineplus.gov/uswds/img/icon-dot-gov.svg" role="img" alt="" aria-hidden="true" /> <div class="usa-media-block__body"> Official websites use .gov A .gov website belongs to an official government organization in the United States. </div> </div> <div class="usa-banner__guidance tablet:grid-col-6"> <img class="usa-banner__icon usa-media-block__img" src="https://medlineplus.gov/uswds/img/icon-https.svg" role="img" alt="" aria-hidden="true" /> <div class="usa-media-block__body"> Secure .gov websites use HTTPS A lock ( <svg xmlns="http://www.w3.org/2000/svg" width="52" height="64" viewBox="0 0 52 64" class="usa-banner__lock-image" role="img" aria-labelledby="banner-lock-description-default" focusable="false" > <title id="banner-lock-title-default">Lock</title> <desc id="banner-lock-description-default">Locked padlock icon</desc> <path fill="#000000" fill-rule="evenodd" d="M26 0c10.493 0 19 8.507 19 19v9h3a4 4 0 0 1 4 4v28a4 4 0 0 1-4 4H4a4 4 0 0 1-4-4V32a4 4 0 0 1 4-4h3v-9C7 8.507 15.507 0 26 0zm0 8c-5.979 0-10.843 4.77-10.996 10.712L15 19v9h22v-9c0-6.075-4.925-11-11-11z" /> </svg> ) or https:// means you鈥檝e safely connected to the .gov website. Share sensitive information only on official, secure websites. </div> </div> </div> </div> </div> </section> <div id="mplus-wrap"> <header> <div id="mplus-header"> <div id="mplus-orgs"> <a href="https://www.nih.gov/" class="nih-org" target="_blank" title="National Institutes of Health"> <img class="nihlogo" src="https://medlineplus.gov/images/nihlogo.png" alt="National Institutes of Health"/> </a><a href="https://www.nlm.nih.gov/" target="_blank"> National Library of Medicine</a> </div> <div id="mplus-logo" class="years-25"> <a href="https://medlineplus.gov/"> <img alt="MedlinePlus Trusted Health Information for You" title="MedlinePlus Trusted Health Information for You" src="https://medlineplus.gov/images/m_logo_25.png"/> </a> </div> <div id="mplus-nav"> <div aria-live="polite" class="sm-live-area hide-offscreen"></div> <button id="sm-menu-btn" class="navmenu-btn" title="Menu" role="button" aria-controls="mplus-menu-list" type="submit">Menu</button> <ul id="mplus-menu-list" class="nav-list"> <li><a href="https://medlineplus.gov/healthtopics.html">Health Topics</a></li> <li><a href="https://medlineplus.gov/druginformation.html">Drugs & Supplements</a></li> <li><a href="https://medlineplus.gov/genetics/">Genetics</a></li> <li><a href="https://medlineplus.gov/lab-tests/">Medical Tests</a></li> <li><a href="https://medlineplus.gov/encyclopedia.html">Medical Encyclopedia</a></li> <li><a href="https://medlineplus.gov/about/">About MedlinePlus</a></li> </ul><button id="sm-search-btn" class="navmenu-btn" title="Search" role="button" aria-controls="mplus-search" type="submit">Search</button> <div class="top-1"> <form id="mplus-search" method="get" action="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta" title="Search MedlinePlus" target="_self"> <input type="hidden" name="v:project" value="medlineplus"/> <input type="hidden" name="v:sources" value="medlineplus-bundle"/> <div class="form-box text-combo"> <div class="form-area"><label class="hide-offscreen" for="searchtext_primary">Search MedlinePlus</label> <input id="searchtext_primary" class="form-text" type="text" placeholder="Search MedlinePlus" alt="#Site Search input" title="Site Search input" maxlength="400" size="40" name="query" autocomplete="off" role="textbox" aria-autocomplete="list" aria-haspopup="true"/> </div> <div class="button-area"> <button class="form-btn" title="Search MedlinePlus" alt="Search MedlinePlus" type="submit">GO</button> </div> </div> </form> <div class="secondarynav"> <ul class="nav-list"> <li><a href="https://medlineplus.gov/about/">About MedlinePlus</a></li> <li><a href="https://medlineplus.gov/whatsnew/">What's New</a></li> <li><a href="https://medlineplus.gov/sitemap.html">Site Map</a></li> <li><a href="https://support.nlm.nih.gov/knowledgebase/category/?id=CAT-01231&category=medlineplus&from=https%3A//medlineplus.gov/genetics/condition/" target="_blank">Customer Support</a></li> </ul> </div> </div> <div id="mplus-nav-bar"> <ul class="nav-list"> <li><a href="https://medlineplus.gov/healthtopics.html">Health Topics</a></li><li><a href="https://medlineplus.gov/druginformation.html">Drugs & Supplements</a></li><li><a href="https://medlineplus.gov/genetics/">Genetics</a></li><li><a href="https://medlineplus.gov/lab-tests/">Medical Tests</a></li><li><a href="https://medlineplus.gov/encyclopedia.html">Medical Encyclopedia</a></li> </ul> </div> </div> </div> </header> <div id="mplus-content"> <div id="breadcrumbs"> <div itemprop="breadcrumb" itemscope="" itemtype="http://schema.org/BreadcrumbList"> You Are Here: <div itemscope itemprop="itemListElement" itemtype="http://schema.org/ListItem"> <a href="https://medlineplus.gov/" itemprop="item">Home</a> → <meta itemprop="position" content="1"/> </div> <div itemscope itemprop="itemListElement" itemtype="http://schema.org/ListItem"> <a href="https://medlineplus.gov/genetics/" itemprop="item">Genetics</a> → <meta itemprop="position" content="2"/> </div> <div> Genetic Conditions </div> </div> </div> URL of this page: https://medlineplus.gov/genetics/condition/ <div > <article> <div class="page-info"> <div class="page-title"> <a name="start" id="start"></a> <h1>Genetic Conditions</h1> </div> <div class="page-actions"></div> <noscript>To use the sharing features on this page, please enable JavaScript.</noscript> </div> <div class="main-one"> <section> Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions. <nav role="navigation"> <div class="alphanav bluearea section azindex"> <div class="section-header"> <div class="section-title"> Other genetic conditions A-Z </div> <div class="section-button"> <button tabindex="0" aria-pressed="false" title="Expand Section" role="button" aria-controls="az-section" type="submit"> Expand Section </button> </div> <div class="sm-live-area hide-offscreen" aria-live="polite"></div> </div> <div id="az-section" class="section-body"> <ul class="alpha-links"> <li><a href="https://medlineplus.gov/genetics/condition-0/" data-alpha="0-9">0-9</a></li> <li>A</li> <li><a href="https://medlineplus.gov/genetics/condition-b/" data-alpha="B">B</a></li> <li><a href="https://medlineplus.gov/genetics/condition-c/" data-alpha="C">C</a></li> <li><a href="https://medlineplus.gov/genetics/condition-d/" data-alpha="D">D</a></li> <li><a href="https://medlineplus.gov/genetics/condition-e/" data-alpha="E">E</a></li> <li><a href="https://medlineplus.gov/genetics/condition-f/" data-alpha="F">F</a></li> <li><a href="https://medlineplus.gov/genetics/condition-g/" data-alpha="G">G</a></li> <li><a href="https://medlineplus.gov/genetics/condition-h/" data-alpha="H">H</a></li> <li><a href="https://medlineplus.gov/genetics/condition-i/" data-alpha="I">I</a></li> <li><a href="https://medlineplus.gov/genetics/condition-j/" data-alpha="J">J</a></li> <li><a href="https://medlineplus.gov/genetics/condition-k/" data-alpha="K">K</a></li> <li><a href="https://medlineplus.gov/genetics/condition-l/" data-alpha="L">L</a></li> <li><a href="https://medlineplus.gov/genetics/condition-m/" data-alpha="M">M</a></li> <li><a href="https://medlineplus.gov/genetics/condition-n/" data-alpha="N">N</a></li> <li><a href="https://medlineplus.gov/genetics/condition-o/" data-alpha="O">O</a></li> <li><a href="https://medlineplus.gov/genetics/condition-p/" data-alpha="P">P</a></li> <li><a href="https://medlineplus.gov/genetics/condition-q/" data-alpha="Q">Q</a></li> <li><a href="https://medlineplus.gov/genetics/condition-r/" data-alpha="R">R</a></li> <li><a href="https://medlineplus.gov/genetics/condition-s/" data-alpha="S">S</a></li> <li><a href="https://medlineplus.gov/genetics/condition-t/" data-alpha="T">T</a></li> <li><a href="https://medlineplus.gov/genetics/condition-u/" data-alpha="U">U</a></li> <li><a href="https://medlineplus.gov/genetics/condition-v/" data-alpha="V">V</a></li> <li><a href="https://medlineplus.gov/genetics/condition-w/" data-alpha="W">W</a></li> <li><a href="https://medlineplus.gov/genetics/condition-x/" data-alpha="X">X</a></li> <li><a href="https://medlineplus.gov/genetics/condition-y/" data-alpha="Y">Y</a></li> <li><a href="https://medlineplus.gov/genetics/condition-z/" data-alpha="Z">Z</a></li> </ul> </div> </div> </nav> </section> <section> <ul class="withident breaklist"> <li>A-alphalipoprotein neuropathy, see <a href="https://medlineplus.gov/genetics/condition/tangier-disease/">Tangier disease</a></li> <li>A-T, see <a href="https://medlineplus.gov/genetics/condition/ataxia-telangiectasia/">Ataxia-telangiectasia</a></li> <li>AA, see <a href="https://medlineplus.gov/genetics/condition/alopecia-areata/">Alopecia areata</a></li> <li>AAA, see <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li> <li>AAA syndrome, see <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li> <li>AADC deficiency, see <a href="https://medlineplus.gov/genetics/condition/aromatic-l-amino-acid-decarboxylase-deficiency/">Aromatic l-amino acid decarboxylase deficiency</a></li> <li>AADCD, see <a href="https://medlineplus.gov/genetics/condition/aromatic-l-amino-acid-decarboxylase-deficiency/">Aromatic l-amino acid decarboxylase deficiency</a></li> <li>Aarskog syndrome, see <a href="https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome/">Aarskog-Scott syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome/">Aarskog-Scott syndrome</a></li> <li>AAS, see <a href="https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome/">Aarskog-Scott syndrome</a></li> <li>AASA dehydrogenase deficiency, see <a href="https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/">Pyridoxine-dependent epilepsy</a></li> <li>Aase syndrome, see <a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li> <li>Aase-Smith syndrome II, see <a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li> <li>AAT, see <a href="https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/">Alpha-1 antitrypsin deficiency</a></li> <li>AATD, see <a href="https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/">Alpha-1 antitrypsin deficiency</a></li> <li>ABAT deficiency, see <a href="https://medlineplus.gov/genetics/condition/gaba-transaminase-deficiency/">GABA-transaminase deficiency</a></li> <li>ABCB11-related intrahepatic cholestasis, see <a href="https://medlineplus.gov/genetics/condition/benign-recurrent-intrahepatic-cholestasis/">Benign recurrent intrahepatic cholestasis</a></li> <li>ABCB11-related intrahepatic cholestasis, see <a href="https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis/">Progressive familial intrahepatic cholestasis</a></li> <li>ABCB4-related intrahepatic cholestasis, see <a href="https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis/">Progressive familial intrahepatic cholestasis</a></li> <li>Abdominal hernia, see <a href="https://medlineplus.gov/genetics/condition/abdominal-wall-defect/">Abdominal wall defect</a></li> <li>Abdominal migraine, see <a href="https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome/">Cyclic vomiting syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/abdominal-wall-defect/">Abdominal wall defect</a></li> <li>Abetalipoproteinaemia, see <a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li> <li>Abetalipoproteinemia neuropathy, see <a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li> <li>ABL, see <a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li> <li>Absence defect of limbs, scalp, and skull, see <a href="https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/">Adams-Oliver syndrome</a></li> <li>Absence epilepsy, childhood, see <a href="https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy/">Childhood absence epilepsy</a></li> <li>Absence of fingerprints, see <a href="https://medlineplus.gov/genetics/condition/adermatoglyphia/">Adermatoglyphia</a></li> <li>Absence of vas deferens, see <a href="https://medlineplus.gov/genetics/condition/congenital-bilateral-absence-of-the-vas-deferens/">Congenital bilateral absence of the vas deferens</a></li> <li>Absent corpus callosum cataract immunodeficiency, see <a href="https://medlineplus.gov/genetics/condition/vici-syndrome/">Vici syndrome</a></li> <li>Absent iris, see <a href="https://medlineplus.gov/genetics/condition/aniridia/">Aniridia</a></li> <li>Absent nails, see <a href="https://medlineplus.gov/genetics/condition/anonychia-congenita/">Anonychia congenita</a></li> <li>Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation, see <a href="https://medlineplus.gov/genetics/condition/genitopatellar-syndrome/">Genitopatellar syndrome</a></li> <li>Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, see <a href="https://medlineplus.gov/genetics/condition/rapadilino-syndrome/">RAPADILINO syndrome</a></li> <li>Absent vasa, see <a href="https://medlineplus.gov/genetics/condition/congenital-bilateral-absence-of-the-vas-deferens/">Congenital bilateral absence of the vas deferens</a></li> <li>AC deficiency, see <a href="https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis/">Farber lipogranulomatosis</a></li> <li><a href="https://medlineplus.gov/genetics/condition/acad9-deficiency/">ACAD9 deficiency</a></li> <li>ACADM deficiency, see <a href="https://medlineplus.gov/genetics/condition/medium-chain-acyl-coa-dehydrogenase-deficiency/">Medium-chain acyl-CoA dehydrogenase deficiency</a></li> <li>ACADS deficiency, see <a href="https://medlineplus.gov/genetics/condition/short-chain-acyl-coa-dehydrogenase-deficiency/">Short-chain acyl-CoA dehydrogenase deficiency</a></li> <li>ACADVL, see <a href="https://medlineplus.gov/genetics/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency/">Very long-chain acyl-CoA dehydrogenase deficiency</a></li> <li>Acanthocytosis, see <a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/acatalasemia/">Acatalasemia</a></li> <li>Acatalasia, see <a href="https://medlineplus.gov/genetics/condition/acatalasemia/">Acatalasemia</a></li> <li>ACC, see <a href="https://medlineplus.gov/genetics/condition/nonsyndromic-aplasia-cutis-congenita/">Nonsyndromic aplasia cutis congenita</a></li> <li>ACCPN, see <a href="https://medlineplus.gov/genetics/condition/andermann-syndrome/">Andermann syndrome</a></li> <li>ACD, see <a href="https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/">Alveolar capillary dysplasia with misalignment of pulmonary veins</a></li> <li>ACD/MPV, see <a href="https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/">Alveolar capillary dysplasia with misalignment of pulmonary veins</a></li> <li>ACDMPV, see <a href="https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/">Alveolar capillary dysplasia with misalignment of pulmonary veins</a></li> <li><a href="https://medlineplus.gov/genetics/condition/aceruloplasminemia/">Aceruloplasminemia</a></li> <li>ACH, see <a href="https://medlineplus.gov/genetics/condition/achondroplasia/">Achondroplasia</a></li> <li>Achalasia-addisonian syndrome, see <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li> <li>Achalasia-addisonianism-alacrima syndrome, see <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li> <li>Achalasia-alacrima syndrome, see <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/achondrogenesis/">Achondrogenesis</a></li> <li>Achondrogenesis syndrome, see <a href="https://medlineplus.gov/genetics/condition/achondrogenesis/">Achondrogenesis</a></li> <li>Achondrogenesis type II/hypochondrogenesis, see <a href="https://medlineplus.gov/genetics/condition/hypochondrogenesis/">Hypochondrogenesis</a></li> <li><a href="https://medlineplus.gov/genetics/condition/achondroplasia/">Achondroplasia</a></li> <li>Achondroplasia, severe, with developmental delay and acanthosis nigricans, see <a href="https://medlineplus.gov/genetics/condition/saddan/">SADDAN</a></li> <li>Achondroplastic dwarfism, see <a href="https://medlineplus.gov/genetics/condition/achondroplasia/">Achondroplasia</a></li> <li>Achromatism, see <a href="https://medlineplus.gov/genetics/condition/achromatopsia/">Achromatopsia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/achromatopsia/">Achromatopsia</a></li> <li>Acid ceramidase deficiency, see <a href="https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis/">Farber lipogranulomatosis</a></li> <li>Acid esterase deficiency, see <a href="https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/">Lysosomal acid lipase deficiency</a></li> <li>Acid lipase deficiency, see <a href="https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/">Lysosomal acid lipase deficiency</a></li> <li>Acid maltase deficiency, see <a href="https://medlineplus.gov/genetics/condition/pompe-disease/">Pompe disease</a></li> <li>Acid maltase deficiency disease, see <a href="https://medlineplus.gov/genetics/condition/pompe-disease/">Pompe disease</a></li> <li>ACLS, see <a href="https://medlineplus.gov/genetics/condition/acrocallosal-syndrome/">Acrocallosal syndrome</a></li> <li>ACMICD, see <a href="https://medlineplus.gov/genetics/condition/acromicric-dysplasia/">Acromicric dysplasia</a></li> <li>Acne inversa, see <a href="https://medlineplus.gov/genetics/condition/hidradenitis-suppurativa/">Hidradenitis suppurativa</a></li> <li>ACPS II, see <a href="https://medlineplus.gov/genetics/condition/carpenter-syndrome/">Carpenter syndrome</a></li> <li>Acquired aphasia with epilepsy, see <a href="https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum/">Epilepsy-aphasia spectrum</a></li> <li>Acral dysostosis with facial and genital abnormalities, see <a href="https://medlineplus.gov/genetics/condition/robinow-syndrome/">Robinow syndrome</a></li> <li>Acral peeling skin syndrome, see <a href="https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/">Peeling skin syndrome 2</a></li> <li><a href="https://medlineplus.gov/genetics/condition/acrocallosal-syndrome/">Acrocallosal syndrome</a></li> <li>Acrocephalopolysyndactyly 2, see <a href="https://medlineplus.gov/genetics/condition/carpenter-syndrome/">Carpenter syndrome</a></li> <li>Acrocephalopolysyndactyly type II, see <a href="https://medlineplus.gov/genetics/condition/carpenter-syndrome/">Carpenter syndrome</a></li> <li>Acrocephalosyndactyly, see <a href="https://medlineplus.gov/genetics/condition/apert-syndrome/">Apert syndrome</a></li> <li>Acrocephalosyndactyly III, see <a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome/">Saethre-Chotzen syndrome</a></li> <li>Acrocephalosyndactyly type I, see <a href="https://medlineplus.gov/genetics/condition/apert-syndrome/">Apert syndrome</a></li> <li>Acrocephalosyndactyly, type II, see <a href="https://medlineplus.gov/genetics/condition/carpenter-syndrome/">Carpenter syndrome</a></li> <li>Acrocephalosyndactyly, type III, see <a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome/">Saethre-Chotzen syndrome</a></li> <li>Acrocephalosyndactyly, type V, see <a href="https://medlineplus.gov/genetics/condition/pfeiffer-syndrome/">Pfeiffer syndrome</a></li> <li>Acrocephaly, skull asymmetry, and mild syndactyly, see <a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome/">Saethre-Chotzen syndrome</a></li> <li>Acrodental dysostosis of Weyers, see <a href="https://medlineplus.gov/genetics/condition/weyers-acrofacial-dysostosis/">Weyers acrofacial dysostosis</a></li> <li>Acroerythrokeratoderma, see <a href="https://medlineplus.gov/genetics/condition/mal-de-meleda/">Mal de Meleda</a></li> <li>Acrofacial dysostosis 1, Nager type, see <a href="https://medlineplus.gov/genetics/condition/nager-syndrome/">Nager syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/acromicric-dysplasia/">Acromicric dysplasia</a></li> <li>Acroosteolysis dominant type, see <a href="https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome/">Hajdu-Cheney syndrome</a></li> <li>Acroosteolysis with osteoporosis and changes in skull and mandible, see <a href="https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome/">Hajdu-Cheney syndrome</a></li> <li>Acrosome malformation of spermatozoa, see <a href="https://medlineplus.gov/genetics/condition/globozoospermia/">Globozoospermia</a></li> <li>ACS III, see <a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome/">Saethre-Chotzen syndrome</a></li> <li>ACS V, see <a href="https://medlineplus.gov/genetics/condition/pfeiffer-syndrome/">Pfeiffer syndrome</a></li> <li>ACS3, see <a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome/">Saethre-Chotzen syndrome</a></li> <li>ACS5, see <a href="https://medlineplus.gov/genetics/condition/pfeiffer-syndrome/">Pfeiffer syndrome</a></li> <li>ACTH resistance, see <a href="https://medlineplus.gov/genetics/condition/familial-glucocorticoid-deficiency/">Familial glucocorticoid deficiency</a></li> <li>ACTH-independent macronodular adrenal hyperplasia, see <a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li> <li>ACTH-independent macronodular adrenocortical hyperplasia, see <a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li> <li>Actin filament aggregate myopathy, see <a href="https://medlineplus.gov/genetics/condition/actin-accumulation-myopathy/">Actin-accumulation myopathy</a></li> <li>Actin myopathy, see <a href="https://medlineplus.gov/genetics/condition/actin-accumulation-myopathy/">Actin-accumulation myopathy</a></li> <li><a href="https://medlineplus.gov/genetics/condition/actin-accumulation-myopathy/">Actin-accumulation myopathy</a></li> <li>Action myoclonus-renal failure syndrome, see <a href="https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome/">Action myoclonus鈥搑enal failure syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome/">Action myoclonus鈥搑enal failure syndrome</a></li> <li>Action myoclonus鈥搑enal failure syndrome, see <a href="https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome/">Action myoclonus鈥搑enal failure syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/activated-pi3k-delta-syndrome/">Activated PI3K-delta syndrome</a></li> <li>Acute febrile mucocutaneous lymph node syndrome, see <a href="https://medlineplus.gov/genetics/condition/kawasaki-disease/">Kawasaki disease</a></li> <li>Acute generalised pustular psoriasis, see <a href="https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis/">Generalized pustular psoriasis</a></li> <li>Acute infectious polyneuritis, see <a href="https://medlineplus.gov/genetics/condition/guillain-barre-syndrome/">Guillain-Barr茅 syndrome</a></li> <li>Acute inflammatory polyneuropathy, see <a href="https://medlineplus.gov/genetics/condition/guillain-barre-syndrome/">Guillain-Barr茅 syndrome</a></li> <li>Acute myelogenous leukemia with normal karyotype, see <a href="https://medlineplus.gov/genetics/condition/cytogenetically-normal-acute-myeloid-leukemia/">Cytogenetically normal acute myeloid leukemia</a></li> <li>Acute necrotizing encephalitis, see <a href="https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1/">Acute necrotizing encephalopathy type 1</a></li> <li><a href="https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1/">Acute necrotizing encephalopathy type 1</a></li> <li><a href="https://medlineplus.gov/genetics/condition/acute-promyelocytic-leukemia/">Acute promyelocytic leukemia</a></li> <li>ACY1D, see <a href="https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency/">Aminoacylase 1 deficiency</a></li> <li>ACY2 deficiency, see <a href="https://medlineplus.gov/genetics/condition/canavan-disease/">Canavan disease</a></li> <li>Acyl-CoA dehydrogenase 9 deficiency, see <a href="https://medlineplus.gov/genetics/condition/acad9-deficiency/">ACAD9 deficiency</a></li> <li>Acyl-CoA dehydrogenase very long chain deficiency, see <a href="https://medlineplus.gov/genetics/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency/">Very long-chain acyl-CoA dehydrogenase deficiency</a></li> <li>Acyl-coenzyme A oxidase deficiency, see <a href="https://medlineplus.gov/genetics/condition/peroxisomal-acyl-coa-oxidase-deficiency/">Peroxisomal acyl-CoA oxidase deficiency</a></li> <li>Acylsphingosine deacylase deficiency, see <a href="https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis/">Farber lipogranulomatosis</a></li> <li>AD, see <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer's disease</a></li> <li>AD, see <a href="https://medlineplus.gov/genetics/condition/anauxetic-dysplasia/">Anauxetic dysplasia</a></li> <li>AD-HIES, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome/">Autosomal dominant hyper-IgE syndrome</a></li> <li>ADA deficiency, see <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/">Adenosine deaminase deficiency</a></li> <li>ADA-Related Immune Deficiency, Adenosine Deaminase 1 Deficiency, see <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/">Adenosine deaminase deficiency</a></li> <li>ADA-SCID, see <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/">Adenosine deaminase deficiency</a></li> <li>ADA1 Deficiency, see <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/">Adenosine deaminase deficiency</a></li> <li>ADA2 deficiency, see <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency/">Adenosine deaminase 2 deficiency</a></li> <li>Adamantiades-Behcet disease, see <a href="https://medlineplus.gov/genetics/condition/behcet-disease/">Beh莽et disease</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/">Adams-Oliver syndrome</a></li> <li>ADANE, see <a href="https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1/">Acute necrotizing encephalopathy type 1</a></li> <li>ADCA-DN syndrome, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy/">Autosomal dominant cerebellar ataxia, deafness, and narcolepsy</a></li> <li>ADCADN, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy/">Autosomal dominant cerebellar ataxia, deafness, and narcolepsy</a></li> <li>AdCSNB, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-congenital-stationary-night-blindness/">Autosomal dominant congenital stationary night blindness</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adcy5-related-dyskinesia/">ADCY5-related dyskinesia</a></li> <li>ADD, see <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li> <li>ADDH, see <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li> <li>ADDH, see <a href="https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy/">Pol III-related leukodystrophy</a></li> <li>Adducted thumbs-mental retardation syndrome, see <a href="https://medlineplus.gov/genetics/condition/l1-syndrome/">L1 syndrome</a></li> <li>ADEAF, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency/">Adenine phosphoribosyltransferase deficiency</a></li> <li>Adenomatosis, familial endocrine, see <a href="https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia/">Multiple endocrine neoplasia</a></li> <li>Adenomatous familial polyposis, see <a href="https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis/">Familial adenomatous polyposis</a></li> <li>Adenomatous familial polyposis syndrome, see <a href="https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis/">Familial adenomatous polyposis</a></li> <li>Adenomatous polyposis coli, see <a href="https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis/">Familial adenomatous polyposis</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency/">Adenosine deaminase 2 deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/">Adenosine deaminase deficiency</a></li> <li>Adenosine deaminase deficient severe combined immunodeficiency, see <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/">Adenosine deaminase deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adenosine-monophosphate-deaminase-deficiency/">Adenosine monophosphate deaminase deficiency</a></li> <li>Adenylosuccinase deficiency, see <a href="https://medlineplus.gov/genetics/condition/adenylosuccinate-lyase-deficiency/">Adenylosuccinate lyase deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adenylosuccinate-lyase-deficiency/">Adenylosuccinate lyase deficiency</a></li> <li>ADERM, see <a href="https://medlineplus.gov/genetics/condition/adermatoglyphia/">Adermatoglyphia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adermatoglyphia/">Adermatoglyphia</a></li> <li>ADG, see <a href="https://medlineplus.gov/genetics/condition/adermatoglyphia/">Adermatoglyphia</a></li> <li>ADH, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hypocalcemia/">Autosomal dominant hypocalcemia</a></li> <li>ADH-resistant diabetes insipidus, see <a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance/">Arginine vasopressin resistance</a></li> <li>ADHD, see <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li> <li>Adiposalgia, see <a href="https://medlineplus.gov/genetics/condition/adiposis-dolorosa/">Adiposis dolorosa</a></li> <li>Adipose tissue rheumatism, see <a href="https://medlineplus.gov/genetics/condition/adiposis-dolorosa/">Adiposis dolorosa</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adiposis-dolorosa/">Adiposis dolorosa</a></li> <li>ADLD, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/">Autosomal dominant leukodystrophy with autonomic disease</a></li> <li>ADLTE, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li> <li>ADMCKD2, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li> <li>ADNFLE, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy/">Autosomal dominant nocturnal frontal lobe epilepsy</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adnp-syndrome/">ADNP syndrome</a></li> <li>ADNP-related intellectual disability and autism spectrum disorder, see <a href="https://medlineplus.gov/genetics/condition/adnp-syndrome/">ADNP syndrome</a></li> <li>ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder, see <a href="https://medlineplus.gov/genetics/condition/adnp-syndrome/">ADNP syndrome</a></li> <li>ADOA, see <a href="https://medlineplus.gov/genetics/condition/optic-atrophy-type-1/">Optic atrophy type 1</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adolescent-idiopathic-scoliosis/">Adolescent idiopathic scoliosis</a></li> <li>Adolescent myoclonic epilepsy, see <a href="https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy/">Juvenile myoclonic epilepsy</a></li> <li>ADPEAF, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li> <li>Adrenal Cushing syndrome due to AIMAH, see <a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li> <li>Adrenal hyperplasia V, see <a href="https://medlineplus.gov/genetics/condition/17-alpha-hydroxylase-17-20-lyase-deficiency/">17 alpha-hydroxylase/17,20-lyase deficiency</a></li> <li>Adrenal hyperplasia, hypertensive form, see <a href="https://medlineplus.gov/genetics/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency/">Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency</a></li> <li>Adrenal hypoplasia congenita, see <a href="https://medlineplus.gov/genetics/condition/x-linked-adrenal-hypoplasia-congenita/">X-linked adrenal hypoplasia congenita</a></li> <li>Adrenal unresponsiveness to ACTH, see <a href="https://medlineplus.gov/genetics/condition/familial-glucocorticoid-deficiency/">Familial glucocorticoid deficiency</a></li> <li>Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia, see <a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li> <li>ADSL deficiency, see <a href="https://medlineplus.gov/genetics/condition/adenylosuccinate-lyase-deficiency/">Adenylosuccinate lyase deficiency</a></li> <li>ADTKD-UMOD, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li> <li>ADTKD1, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li> <li>Adult neuronal ceroid lipofuscinosis, see <a href="https://medlineplus.gov/genetics/condition/cln4-disease/">CLN4 disease</a></li> <li>Adult onset ataxia with oculomotor apraxia, see <a href="https://medlineplus.gov/genetics/condition/ataxia-with-oculomotor-apraxia/">Ataxia with oculomotor apraxia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adult-polyglucosan-body-disease/">Adult polyglucosan body disease</a></li> <li>Adult premature aging syndrome, see <a href="https://medlineplus.gov/genetics/condition/werner-syndrome/">Werner syndrome</a></li> <li>Adult progeria, see <a href="https://medlineplus.gov/genetics/condition/werner-syndrome/">Werner syndrome</a></li> <li>Adult Refsum disease, see <a href="https://medlineplus.gov/genetics/condition/refsum-disease/">Refsum disease</a></li> <li>Adult-onset autosomal dominant leukodystrophy with autonomic symptoms, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/">Autosomal dominant leukodystrophy with autonomic disease</a></li> <li>Adult-onset diabetes, see <a href="https://medlineplus.gov/genetics/condition/type-2-diabetes/">Type 2 diabetes</a></li> <li>Adult-onset diabetes mellitus, see <a href="https://medlineplus.gov/genetics/condition/type-2-diabetes/">Type 2 diabetes</a></li> <li><a href="https://medlineplus.gov/genetics/condition/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia/">Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia</a></li> <li>ADVIRC, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy/">Autosomal dominant vitreoretinochoroidopathy</a></li> <li>Adynamia episodica hereditaria, see <a href="https://medlineplus.gov/genetics/condition/hyperkalemic-periodic-paralysis/">Hyperkalemic periodic paralysis</a></li> <li>AEC syndrome, see <a href="https://medlineplus.gov/genetics/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome/">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></li> <li>AEG syndrome, see <a href="https://medlineplus.gov/genetics/condition/sox2-anophthalmia-syndrome/">SOX2 anophthalmia syndrome</a></li> <li>AEXS, see <a href="https://medlineplus.gov/genetics/condition/aromatase-excess-syndrome/">Aromatase excess syndrome</a></li> <li>AFD1, see <a href="https://medlineplus.gov/genetics/condition/nager-syndrome/">Nager syndrome</a></li> <li>Affective disorder, seasonal, see <a href="https://medlineplus.gov/genetics/condition/seasonal-affective-disorder/">Seasonal affective disorder</a></li> <li>Afibrinogenemia, see <a href="https://medlineplus.gov/genetics/condition/congenital-afibrinogenemia/">Congenital afibrinogenemia</a></li> <li>African hemochromatosis, see <a href="https://medlineplus.gov/genetics/condition/african-iron-overload/">African iron overload</a></li> <li><a href="https://medlineplus.gov/genetics/condition/african-iron-overload/">African iron overload</a></li> <li>African nutritional hemochromatosis, see <a href="https://medlineplus.gov/genetics/condition/african-iron-overload/">African iron overload</a></li> <li>African siderosis, see <a href="https://medlineplus.gov/genetics/condition/african-iron-overload/">African iron overload</a></li> <li>AGA deficiency, see <a href="https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/">Aspartylglucosaminuria</a></li> <li>Agammaglobulinemia, see <a href="https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia/">X-linked agammaglobulinemia</a></li> <li>Aganglionic megacolon, see <a href="https://medlineplus.gov/genetics/condition/hirschsprung-disease/">Hirschsprung disease</a></li> <li>AGAT deficiency, see <a href="https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency/">Arginine:glycine amidinotransferase deficiency</a></li> <li>Age-related hearing impairment, see <a href="https://medlineplus.gov/genetics/condition/age-related-hearing-loss/">Age-related hearing loss</a></li> <li><a href="https://medlineplus.gov/genetics/condition/age-related-hearing-loss/">Age-related hearing loss</a></li> <li><a href="https://medlineplus.gov/genetics/condition/age-related-macular-degeneration/">Age-related macular degeneration</a></li> <li>Age-related maculopathy, see <a href="https://medlineplus.gov/genetics/condition/age-related-macular-degeneration/">Age-related macular degeneration</a></li> <li>Agenesis of cerebellar vermis, see <a href="https://medlineplus.gov/genetics/condition/joubert-syndrome/">Joubert syndrome</a></li> <li>Agenesis of corpus callosum with chorioretinal abnormality, see <a href="https://medlineplus.gov/genetics/condition/aicardi-syndrome/">Aicardi syndrome</a></li> <li>Agenesis of corpus callosum with infantile spasms and ocular abnormalities, see <a href="https://medlineplus.gov/genetics/condition/aicardi-syndrome/">Aicardi syndrome</a></li> <li>Agenesis of corpus callosum with neuronopathy, see <a href="https://medlineplus.gov/genetics/condition/andermann-syndrome/">Andermann syndrome</a></li> <li>Agenesis of corpus callosum with peripheral neuropathy, see <a href="https://medlineplus.gov/genetics/condition/andermann-syndrome/">Andermann syndrome</a></li> <li>Agenesis of corpus callosum with polyneuropathy, see <a href="https://medlineplus.gov/genetics/condition/andermann-syndrome/">Andermann syndrome</a></li> <li>Aggressive fibromatosis, see <a href="https://medlineplus.gov/genetics/condition/desmoid-tumor/">Desmoid tumor</a></li> <li>AGL deficiency, see <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii/">Glycogen storage disease type III</a></li> <li>AGM1 deficiency, see <a href="https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/">PGM3-congenital disorder of glycosylation</a></li> <li>Agnogenic myeloid metaplasia, see <a href="https://medlineplus.gov/genetics/condition/primary-myelofibrosis/">Primary myelofibrosis</a></li> <li>AGS, see <a href="https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome/">Aicardi-Gouti猫res syndrome</a></li> <li>AH, see <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-hypotrichosis/">Autosomal recessive hypotrichosis</a></li> <li>AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome, see <a href="https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome/">Xia-Gibbs syndrome</a></li> <li>AHUS, see <a href="https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome/">Atypical hemolytic-uremic syndrome</a></li> <li>AI, see <a href="https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta/">Amelogenesis imperfecta</a></li> <li>Aicardi Goutieres syndrome, see <a href="https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome/">Aicardi-Gouti猫res syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/aicardi-syndrome/">Aicardi syndrome</a></li> <li>Aicardi's syndrome, see <a href="https://medlineplus.gov/genetics/condition/aicardi-syndrome/">Aicardi syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome/">Aicardi-Gouti猫res syndrome</a></li> <li>AIMAH, see <a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li> <li>AIPDS, see <a href="https://medlineplus.gov/genetics/condition/otulipenia/">Otulipenia</a></li> <li>AIRE deficiency, see <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li> <li>Airsickness, see <a href="https://medlineplus.gov/genetics/condition/motion-sickness/">Motion sickness</a></li> <li>AIS, see <a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/">Androgen insensitivity syndrome</a></li> <li>AIS, see <a href="https://medlineplus.gov/genetics/condition/adolescent-idiopathic-scoliosis/">Adolescent idiopathic scoliosis</a></li> <li>AKU, see <a href="https://medlineplus.gov/genetics/condition/alkaptonuria/">Alkaptonuria</a></li> <li>Al-Aqeel Sewairi syndrome, see <a href="https://medlineplus.gov/genetics/condition/multicentric-osteolysis-nodulosis-and-arthropathy/">Multicentric osteolysis, nodulosis, and arthropathy</a></li> <li>Alacrima-achalasia-adrenal insufficiency neurologic disorder, see <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li> <li>Alactasia, see <a href="https://medlineplus.gov/genetics/condition/lactose-intolerance/">Lactose intolerance</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alagille-syndrome/">Alagille syndrome</a></li> <li>Alagille's syndrome, see <a href="https://medlineplus.gov/genetics/condition/alagille-syndrome/">Alagille syndrome</a></li> <li>Alagille-Watson syndrome, see <a href="https://medlineplus.gov/genetics/condition/alagille-syndrome/">Alagille syndrome</a></li> <li>Albinism and complete nerve deafness, see <a href="https://medlineplus.gov/genetics/condition/tietz-syndrome/">Tietz syndrome</a></li> <li>Albinism, ocular, see <a href="https://medlineplus.gov/genetics/condition/ocular-albinism/">Ocular albinism</a></li> <li>Albinism, oculocutaneous, see <a href="https://medlineplus.gov/genetics/condition/oculocutaneous-albinism/">Oculocutaneous albinism</a></li> <li>Albinism-deafness of Tietz, see <a href="https://medlineplus.gov/genetics/condition/tietz-syndrome/">Tietz syndrome</a></li> <li>Albipunctate retinal dystrophy, see <a href="https://medlineplus.gov/genetics/condition/fundus-albipunctatus/">Fundus albipunctatus</a></li> <li>Albright hereditary osteodystrophy-like syndrome, see <a href="https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome/">2q37 deletion syndrome</a></li> <li>Albright syndrome, see <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li> <li>Albright's disease, see <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li> <li>Albright's disease of bone, see <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li> <li>Albright's syndrome, see <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li> <li>Albright's syndrome with precocious puberty, see <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li> <li>Albright-McCune-Sternberg syndrome, see <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li> <li>Albright-Sternberg syndrome, see <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li> <li>Alcaptonuria, see <a href="https://medlineplus.gov/genetics/condition/alkaptonuria/">Alkaptonuria</a></li> <li>Alcohol addiction, see <a href="https://medlineplus.gov/genetics/condition/alcohol-use-disorder/">Alcohol use disorder</a></li> <li>Alcohol dependence, see <a href="https://medlineplus.gov/genetics/condition/alcohol-use-disorder/">Alcohol use disorder</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alcohol-use-disorder/">Alcohol use disorder</a></li> <li>Alcoholism, see <a href="https://medlineplus.gov/genetics/condition/alcohol-use-disorder/">Alcohol use disorder</a></li> <li>ALDD, see <a href="https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome/">Nakajo-Nishimura syndrome</a></li> <li>ALDOB deficiency, see <a href="https://medlineplus.gov/genetics/condition/hereditary-fructose-intolerance/">Hereditary fructose intolerance</a></li> <li>Aldolase B deficiency, see <a href="https://medlineplus.gov/genetics/condition/hereditary-fructose-intolerance/">Hereditary fructose intolerance</a></li> <li>Aldosterone deficiency, see <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li> <li>Aldosterone deficiency due to deficiency of steroid 18-hydroxylase, see <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li> <li>Aldosterone deficiency due to deficiency of steroid 18-oxidase, see <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li> <li>Aldosterone synthase deficiency, see <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/aldosterone-producing-adenoma/">Aldosterone-producing adenoma</a></li> <li>Aldosterone-secreting adenoma, see <a href="https://medlineplus.gov/genetics/condition/aldosterone-producing-adenoma/">Aldosterone-producing adenoma</a></li> <li>Aldosteronism with hyperplasia of the adrenal cortex, see <a href="https://medlineplus.gov/genetics/condition/bartter-syndrome/">Bartter syndrome</a></li> <li>Aldosteronoma, see <a href="https://medlineplus.gov/genetics/condition/aldosterone-producing-adenoma/">Aldosterone-producing adenoma</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alexander-disease/">Alexander disease</a></li> <li>Alexander's disease, see <a href="https://medlineplus.gov/genetics/condition/alexander-disease/">Alexander disease</a></li> <li>ALG1-CDG, see <a href="https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation/">ALG1-congenital disorder of glycosylation</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation/">ALG1-congenital disorder of glycosylation</a></li> <li>ALG12-CDG, see <a href="https://medlineplus.gov/genetics/condition/alg12-congenital-disorder-of-glycosylation/">ALG12-congenital disorder of glycosylation</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alg12-congenital-disorder-of-glycosylation/">ALG12-congenital disorder of glycosylation</a></li> <li>ALG6-CDG, see <a href="https://medlineplus.gov/genetics/condition/alg6-congenital-disorder-of-glycosylation/">ALG6-congenital disorder of glycosylation</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alg6-congenital-disorder-of-glycosylation/">ALG6-congenital disorder of glycosylation</a></li> <li>Alibert-Bazin syndrome, see <a href="https://medlineplus.gov/genetics/condition/mycosis-fungoides/">Mycosis fungoides</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alkaptonuria/">Alkaptonuria</a></li> <li>Allan-Herndon syndrome, see <a href="https://medlineplus.gov/genetics/condition/allan-herndon-dudley-syndrome/">Allan-Herndon-Dudley syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/allan-herndon-dudley-syndrome/">Allan-Herndon-Dudley syndrome</a></li> <li>Allanson Pantzar McLeod syndrome, see <a href="https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis/">Renal tubular dysgenesis</a></li> <li><a href="https://medlineplus.gov/genetics/condition/allergic-asthma/">Allergic asthma</a></li> <li>Allgrove syndrome, see <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li> <li>ALMS, see <a href="https://medlineplus.gov/genetics/condition/alstrom-syndrome/">Alstr枚m syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alopecia-areata/">Alopecia areata</a></li> <li>Alopecia circumscripta, see <a href="https://medlineplus.gov/genetics/condition/alopecia-areata/">Alopecia areata</a></li> <li>Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis, see <a href="https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome/">Alpers-Huttenlocher syndrome</a></li> <li>Alpers disease, see <a href="https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome/">Alpers-Huttenlocher syndrome</a></li> <li>Alpers progressive infantile poliodystrophy, see <a href="https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome/">Alpers-Huttenlocher syndrome</a></li> <li>Alpers syndrome, see <a href="https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome/">Alpers-Huttenlocher syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome/">Alpers-Huttenlocher syndrome</a></li> <li>Alpha high density lipoprotein deficiency disease, see <a href="https://medlineplus.gov/genetics/condition/tangier-disease/">Tangier disease</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia/">Alpha thalassemia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li> <li>Alpha thalassemia X-linked mental retardation syndrome, see <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li> <li>Alpha thalassemia/mental retardation, X-linked, see <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/">Alpha-1 antitrypsin deficiency</a></li> <li>Alpha-1 protease inhibitor deficiency, see <a href="https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/">Alpha-1 antitrypsin deficiency</a></li> <li>Alpha-1 related emphysema, see <a href="https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/">Alpha-1 antitrypsin deficiency</a></li> <li>Alpha-1,4-glucosidase deficiency, see <a href="https://medlineplus.gov/genetics/condition/pompe-disease/">Pompe disease</a></li> <li>Alpha-aminoadipic semialdehyde deficiency disease, see <a href="https://medlineplus.gov/genetics/condition/hyperlysinemia/">Hyperlysinemia</a></li> <li>Alpha-D-mannosidosis, see <a href="https://medlineplus.gov/genetics/condition/alpha-mannosidosis/">Alpha-mannosidosis</a></li> <li>Alpha-galactosidase A deficiency, see <a href="https://medlineplus.gov/genetics/condition/fabry-disease/">Fabry disease</a></li> <li>Alpha-galactosidase B deficiency, see <a href="https://medlineplus.gov/genetics/condition/schindler-disease/">Schindler disease</a></li> <li>Alpha-galNAc deficiency, Schindler type, see <a href="https://medlineplus.gov/genetics/condition/schindler-disease/">Schindler disease</a></li> <li>Alpha-L-fucosidase deficiency, see <a href="https://medlineplus.gov/genetics/condition/fucosidosis/">Fucosidosis</a></li> <li>Alpha-LCAT deficiency, see <a href="https://medlineplus.gov/genetics/condition/fish-eye-disease/">Fish-eye disease</a></li> <li>Alpha-lecithin:cholesterol acyltransferase deficiency, see <a href="https://medlineplus.gov/genetics/condition/fish-eye-disease/">Fish-eye disease</a></li> <li>Alpha-mannosidase B deficiency, see <a href="https://medlineplus.gov/genetics/condition/alpha-mannosidosis/">Alpha-mannosidosis</a></li> <li>Alpha-mannosidase deficiency, see <a href="https://medlineplus.gov/genetics/condition/alpha-mannosidosis/">Alpha-mannosidosis</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alpha-mannosidosis/">Alpha-mannosidosis</a></li> <li>Alpha-methylacetoacetic aciduria, see <a href="https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency/">Beta-ketothiolase deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alpha-methylacyl-coa-racemase-deficiency/">Alpha-methylacyl-CoA racemase deficiency</a></li> <li>Alpha-N-acetylgalactosaminidase deficiency, see <a href="https://medlineplus.gov/genetics/condition/schindler-disease/">Schindler disease</a></li> <li>Alpha-NAGA deficiency, see <a href="https://medlineplus.gov/genetics/condition/schindler-disease/">Schindler disease</a></li> <li>Alpha-thalassemia, see <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia/">Alpha thalassemia</a></li> <li>Alpha-thalassemia X-linked mental retardation syndrome, see <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li> <li>Alpha-thalassemia/mental retardation syndrome, nondeletion type, see <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alport-syndrome/">Alport syndrome</a></li> <li>ALPS, see <a href="https://medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-syndrome/">Autoimmune lymphoproliferative syndrome</a></li> <li>ALS, see <a href="https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis/">Amyotrophic lateral sclerosis</a></li> <li>ALSP, see <a href="https://medlineplus.gov/genetics/condition/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia/">Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia</a></li> <li>Alstrom syndrome, see <a href="https://medlineplus.gov/genetics/condition/alstrom-syndrome/">Alstr枚m syndrome</a></li> <li>Alstrom-Hallgren syndrome, see <a href="https://medlineplus.gov/genetics/condition/alstrom-syndrome/">Alstr枚m syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alstrom-syndrome/">Alstr枚m syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alternating-hemiplegia-of-childhood/">Alternating hemiplegia of childhood</a></li> <li>Alternating hemiplegia syndrome, see <a href="https://medlineplus.gov/genetics/condition/alternating-hemiplegia-of-childhood/">Alternating hemiplegia of childhood</a></li> <li>Alveolar capillary dysplasia, see <a href="https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/">Alveolar capillary dysplasia with misalignment of pulmonary veins</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/">Alveolar capillary dysplasia with misalignment of pulmonary veins</a></li> <li>ALX, see <a href="https://medlineplus.gov/genetics/condition/alexander-disease/">Alexander disease</a></li> <li>Alymphoid cystic thymic dysgenesis, see <a href="https://medlineplus.gov/genetics/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy/">T-cell immunodeficiency, congenital alopecia, and nail dystrophy</a></li> <li>Alzheimer dementia (AD), see <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer's disease</a></li> <li>Alzheimer disease, see <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer's disease</a></li> <li>Alzheimer sclerosis, see <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer's disease</a></li> <li>Alzheimer syndrome, see <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer's disease</a></li> <li><a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer's disease</a></li> <li>Alzheimer-type dementia (ATD), see <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer's disease</a></li> <li>AMACR deficiency, see <a href="https://medlineplus.gov/genetics/condition/alpha-methylacyl-coa-racemase-deficiency/">Alpha-methylacyl-CoA racemase deficiency</a></li> <li>Amaurosis, Leber congenital, see <a href="https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/">Leber congenital amaurosis</a></li> <li>AMCD1, see <a href="https://medlineplus.gov/genetics/condition/distal-arthrogryposis-type-1/">Distal arthrogryposis type 1</a></li> <li>AMCX1, see <a href="https://medlineplus.gov/genetics/condition/x-linked-infantile-spinal-muscular-atrophy/">X-linked infantile spinal muscular atrophy</a></li> <li>AMD, see <a href="https://medlineplus.gov/genetics/condition/pompe-disease/">Pompe disease</a></li> <li>AMD, see <a href="https://medlineplus.gov/genetics/condition/age-related-macular-degeneration/">Age-related macular degeneration</a></li> <li><a href="https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta/">Amelogenesis imperfecta</a></li> <li><a href="https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency/">Aminoacylase 1 deficiency</a></li> <li>Aminoacylase 2 deficiency, see <a href="https://medlineplus.gov/genetics/condition/canavan-disease/">Canavan disease</a></li> <li>Amish brittle hair syndrome, see <a href="https://medlineplus.gov/genetics/condition/trichothiodystrophy/">Trichothiodystrophy</a></li> <li>Amish infantile epilepsy syndrome, see <a href="https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency/">GM3 synthase deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly/">Amish lethal microcephaly</a></li> <li>Amish microcephaly, see <a href="https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly/">Amish lethal microcephaly</a></li> <li>AML M3, see <a href="https://medlineplus.gov/genetics/condition/acute-promyelocytic-leukemia/">Acute promyelocytic leukemia</a></li> <li>AMP deaminase deficiency, see <a href="https://medlineplus.gov/genetics/condition/adenosine-monophosphate-deaminase-deficiency/">Adenosine monophosphate deaminase deficiency</a></li> <li>AMRF, see <a href="https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome/">Action myoclonus鈥搑enal failure syndrome</a></li> <li>Amyloid cranial neuropathy with lattice corneal dystrophy, see <a href="https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii/">Lattice corneal dystrophy type II</a></li> <li>Amyloidosis due to mutant gelsolin, see <a href="https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii/">Lattice corneal dystrophy type II</a></li> <li>Amyloidosis IX, see <a href="https://medlineplus.gov/genetics/condition/primary-localized-cutaneous-amyloidosis/">Primary localized cutaneous amyloidosis</a></li> <li>Amyloidosis V, see <a href="https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii/">Lattice corneal dystrophy type II</a></li> <li>Amyloidosis, Finnish type, see <a href="https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii/">Lattice corneal dystrophy type II</a></li> <li>Amyloidosis, Meretoja type, see <a href="https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii/">Lattice corneal dystrophy type II</a></li> <li>Amylopectinosis, see <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv/">Glycogen storage disease type IV</a></li> <li><a href="https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis/">Amyotrophic lateral sclerosis</a></li> <li>Amyotrophic lateral sclerosis with dementia, see <a href="https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis/">Amyotrophic lateral sclerosis</a></li> <li>Amyotrophic neuralgia, see <a href="https://medlineplus.gov/genetics/condition/hereditary-neuralgic-amyotrophy/">Hereditary neuralgic amyotrophy</a></li> <li>Amyotrophy, thenar, of carpal origin, see <a href="https://medlineplus.gov/genetics/condition/carpal-tunnel-syndrome/">Carpal tunnel syndrome</a></li> <li>Anal-ear-renal-radial malformation syndrome, see <a href="https://medlineplus.gov/genetics/condition/townes-brocks-syndrome/">Townes-Brocks Syndrome</a></li> <li>Analphalipoproteinemia, see <a href="https://medlineplus.gov/genetics/condition/tangier-disease/">Tangier disease</a></li> <li>Anancastic neurosis, see <a href="https://medlineplus.gov/genetics/condition/obsessive-compulsive-disorder/">Obsessive-compulsive disorder</a></li> <li>Anankastic neurosis, see <a href="https://medlineplus.gov/genetics/condition/obsessive-compulsive-disorder/">Obsessive-compulsive disorder</a></li> <li><a href="https://medlineplus.gov/genetics/condition/anauxetic-dysplasia/">Anauxetic dysplasia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/andermann-syndrome/">Andermann syndrome</a></li> <li>Anders syndrome, see <a href="https://medlineplus.gov/genetics/condition/adiposis-dolorosa/">Adiposis dolorosa</a></li> <li>Andersen disease, see <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv/">Glycogen storage disease type IV</a></li> <li>Andersen glycogenosis, see <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv/">Glycogen storage disease type IV</a></li> <li>Andersen syndrome, see <a href="https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome/">Andersen-Tawil syndrome</a></li> <li>Andersen's disease, see <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv/">Glycogen storage disease type IV</a></li> <li><a href="https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome/">Andersen-Tawil syndrome</a></li> <li>Anderson disease, see <a href="https://medlineplus.gov/genetics/condition/chylomicron-retention-disease/">Chylomicron retention disease</a></li> <li>Anderson syndrome, see <a href="https://medlineplus.gov/genetics/condition/chylomicron-retention-disease/">Chylomicron retention disease</a></li> <li>Anderson-Fabry disease, see <a href="https://medlineplus.gov/genetics/condition/fabry-disease/">Fabry disease</a></li> <li>Anderson-Warburg syndrome, see <a href="https://medlineplus.gov/genetics/condition/norrie-disease/">Norrie disease</a></li> <li><a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/">Androgen insensitivity syndrome</a></li> <li>Androgen receptor deficiency, see <a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/">Androgen insensitivity syndrome</a></li> <li>Androgen resistance syndrome, see <a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/">Androgen insensitivity syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/androgenetic-alopecia/">Androgenetic alopecia</a></li> <li>Androgenic alopecia, see <a href="https://medlineplus.gov/genetics/condition/androgenetic-alopecia/">Androgenetic alopecia</a></li> <li>ANE1, see <a href="https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1/">Acute necrotizing encephalopathy type 1</a></li> <li>Anemia, dyserythropoietic, congenital, see <a href="https://medlineplus.gov/genetics/condition/congenital-dyserythropoietic-anemia/">Congenital dyserythropoietic anemia</a></li> <li>Anemia, hereditary sideroblastic, see <a href="https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia/">X-linked sideroblastic anemia</a></li> <li>Anemia, hypochromic microcytic, with defect in iron metabolism, see <a href="https://medlineplus.gov/genetics/condition/iron-refractory-iron-deficiency-anemia/">Iron-refractory iron deficiency anemia</a></li> <li>Anemia, sex-linked hypochromic sideroblastic, see <a href="https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia/">X-linked sideroblastic anemia</a></li> <li>Anencephalia, see <a href="https://medlineplus.gov/genetics/condition/anencephaly/">Anencephaly</a></li> <li>Anencephalus, see <a href="https://medlineplus.gov/genetics/condition/anencephaly/">Anencephaly</a></li> <li><a href="https://medlineplus.gov/genetics/condition/anencephaly/">Anencephaly</a></li> <li>Anesthesia related hyperthermia, see <a href="https://medlineplus.gov/genetics/condition/malignant-hyperthermia/">Malignant hyperthermia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/angelman-syndrome/">Angelman syndrome</a></li> <li>Angelman-like syndrome, X-linked, see <a href="https://medlineplus.gov/genetics/condition/christianson-syndrome/">Christianson syndrome</a></li> <li>Angio-osteohypertrophy syndrome, see <a href="https://medlineplus.gov/genetics/condition/klippel-trenaunay-syndrome/">Klippel-Trenaunay syndrome</a></li> <li>Angiohemophilia, see <a href="https://medlineplus.gov/genetics/condition/von-willebrand-disease/">Von Willebrand disease</a></li> <li>Angiokeratoma corporis diffusum, see <a href="https://medlineplus.gov/genetics/condition/fabry-disease/">Fabry disease</a></li> <li>Angiokeratoma corporis diffusum-glycopeptiduria, see <a href="https://medlineplus.gov/genetics/condition/schindler-disease/">Schindler disease</a></li> <li>Angiokeratoma diffuse, see <a href="https://medlineplus.gov/genetics/condition/fabry-disease/">Fabry disease</a></li> <li>Angiomatosis aculoorbital-thalamic syndrome, see <a href="https://medlineplus.gov/genetics/condition/sturge-weber-syndrome/">Sturge-Weber syndrome</a></li> <li>Angiomatosis retinae, see <a href="https://medlineplus.gov/genetics/condition/von-hippel-lindau-syndrome/">Von Hippel-Lindau syndrome</a></li> <li>ANH1, see <a href="https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia/">X-linked sideroblastic anemia</a></li> <li>Anhidrotic ectodermal dysplasia, see <a href="https://medlineplus.gov/genetics/condition/hypohidrotic-ectodermal-dysplasia/">Hypohidrotic ectodermal dysplasia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/">Anhidrotic ectodermal dysplasia with immune deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/aniridia/">Aniridia</a></li> <li>Aniridia, cerebellar ataxia, and mental retardation, see <a href="https://medlineplus.gov/genetics/condition/gillespie-syndrome/">Gillespie syndrome</a></li> <li>Aniridia-cerebellar ataxia-intellectual disability, see <a href="https://medlineplus.gov/genetics/condition/gillespie-syndrome/">Gillespie syndrome</a></li> <li>Aniridia-cerebellar ataxia-mental deficiency, see <a href="https://medlineplus.gov/genetics/condition/gillespie-syndrome/">Gillespie syndrome</a></li> <li>Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, see <a href="https://medlineplus.gov/genetics/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome/">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome/">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/ankylosing-spondylitis/">Ankylosing spondylitis</a></li> <li><a href="https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome/">Ankyrin-B syndrome</a></li> <li>Annuloaortic ectasia, see <a href="https://medlineplus.gov/genetics/condition/familial-thoracic-aortic-aneurysm-and-dissection/">Familial thoracic aortic aneurysm and dissection</a></li> <li>Anonychia, see <a href="https://medlineplus.gov/genetics/condition/anonychia-congenita/">Anonychia congenita</a></li> <li><a href="https://medlineplus.gov/genetics/condition/anonychia-congenita/">Anonychia congenita</a></li> <li>Anophthalmia-esophageal-genital syndrome, see <a href="https://medlineplus.gov/genetics/condition/sox2-anophthalmia-syndrome/">SOX2 anophthalmia syndrome</a></li> <li>Anophthalmia-syndactyly, see <a href="https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome/">Ophthalmo-acromelic syndrome</a></li> <li>Anophthalmia-Waardenburg syndrome, see <a href="https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome/">Ophthalmo-acromelic syndrome</a></li> <li>Anophthalmos with limb anomalies, see <a href="https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome/">Ophthalmo-acromelic syndrome</a></li> <li>Anophthalmos-limb anomalies syndrome, see <a href="https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome/">Ophthalmo-acromelic syndrome</a></li> <li>Anosmic hypogonadism, see <a href="https://medlineplus.gov/genetics/condition/kallmann-syndrome/">Kallmann syndrome</a></li> <li>Anosmic idiopathic hypogonadotropic hypogonadism, see <a href="https://medlineplus.gov/genetics/condition/kallmann-syndrome/">Kallmann syndrome</a></li> <li>ANS, see <a href="https://medlineplus.gov/genetics/condition/ataxia-neuropathy-spectrum/">Ataxia neuropathy spectrum</a></li> <li>Anti-phospholipid syndrome, see <a href="https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome/">Antiphospholipid syndrome</a></li> <li>Antibody deficiency and immune dysregulation, PLCG2-associated, see <a href="https://medlineplus.gov/genetics/condition/plcg2-associated-antibody-deficiency-and-immune-dysregulation/">PLCG2-associated antibody deficiency and immune dysregulation</a></li> <li>Antiphospholipid antibody syndrome, see <a href="https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome/">Antiphospholipid syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome/">Antiphospholipid syndrome</a></li> <li>Antithrombin III deficiency, see <a href="https://medlineplus.gov/genetics/condition/hereditary-antithrombin-deficiency/">Hereditary antithrombin deficiency</a></li> <li>Antley-Bixler syndrome, see <a href="https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/">Cytochrome P450 oxidoreductase deficiency</a></li> <li>Antley-Bixler syndrome with disordered steroidogenesis, see <a href="https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/">Cytochrome P450 oxidoreductase deficiency</a></li> <li>Antley-Bixler syndrome-like phenotype with disordered steroidogenesis, see <a href="https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/">Cytochrome P450 oxidoreductase deficiency</a></li> <li>AO2, see <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2/">Atelosteogenesis type 2</a></li> <li>AODM, see <a href="https://medlineplus.gov/genetics/condition/type-2-diabetes/">Type 2 diabetes</a></li> <li>AOI, see <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1/">Atelosteogenesis type 1</a></li> <li>AOIII, see <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3/">Atelosteogenesis type 3</a></li> <li>Aortic stenosis, supravalvular, see <a href="https://medlineplus.gov/genetics/condition/supravalvular-aortic-stenosis/">Supravalvular aortic stenosis</a></li> <li>AOS, see <a href="https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/">Adams-Oliver syndrome</a></li> <li>APBD, see <a href="https://medlineplus.gov/genetics/condition/adult-polyglucosan-body-disease/">Adult polyglucosan body disease</a></li> <li>APC resistance, Leiden type, see <a href="https://medlineplus.gov/genetics/condition/factor-v-leiden-thrombophilia/">Factor V Leiden thrombophilia</a></li> <li>APDS, see <a href="https://medlineplus.gov/genetics/condition/activated-pi3k-delta-syndrome/">Activated PI3K-delta syndrome</a></li> <li>APECED, see <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li> <li><a href="https://medlineplus.gov/genetics/condition/apert-syndrome/">Apert syndrome</a></li> <li>Apert's syndrome, see <a href="https://medlineplus.gov/genetics/condition/apert-syndrome/">Apert syndrome</a></li> <li>APL, see <a href="https://medlineplus.gov/genetics/condition/acute-promyelocytic-leukemia/">Acute promyelocytic leukemia</a></li> <li>Aplasia cutis congenita with terminal transverse limb defects, see <a href="https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/">Adams-Oliver syndrome</a></li> <li>Aplastic nails, see <a href="https://medlineplus.gov/genetics/condition/anonychia-congenita/">Anonychia congenita</a></li> <li>Apnea, obstructive, see <a href="https://medlineplus.gov/genetics/condition/obstructive-sleep-apnea/">Obstructive sleep apnea</a></li> <li>Apocrinitis, see <a href="https://medlineplus.gov/genetics/condition/hidradenitis-suppurativa/">Hidradenitis suppurativa</a></li> <li>Apolipoprotein B deficiency, see <a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li> <li>Appelt-Gerken-Lenz syndrome, see <a href="https://medlineplus.gov/genetics/condition/roberts-syndrome/">Roberts syndrome</a></li> <li>Aprosencephaly, see <a href="https://medlineplus.gov/genetics/condition/anencephaly/">Anencephaly</a></li> <li>APRT deficiency, see <a href="https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency/">Adenine phosphoribosyltransferase deficiency</a></li> <li>APS type 1, see <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li> <li>APS1, see <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li> <li>APSS, see <a href="https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/">Peeling skin syndrome 2</a></li> <li>AR deficiency, see <a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/">Androgen insensitivity syndrome</a></li> <li>AR dRTA with deafness, see <a href="https://medlineplus.gov/genetics/condition/renal-tubular-acidosis-with-deafness/">Renal tubular acidosis with deafness</a></li> <li>AR dRTA with hearing loss, see <a href="https://medlineplus.gov/genetics/condition/renal-tubular-acidosis-with-deafness/">Renal tubular acidosis with deafness</a></li> <li>AR-HIES, see <a href="https://medlineplus.gov/genetics/condition/dock8-immunodeficiency-syndrome/">DOCK8 immunodeficiency syndrome</a></li> <li>Arakawa syndrome 1, see <a href="https://medlineplus.gov/genetics/condition/glutamate-formiminotransferase-deficiency/">Glutamate formiminotransferase deficiency</a></li> <li>ARAN-NM, see <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia/">Autosomal recessive axonal neuropathy with neuromyotonia</a></li> <li>ARCA1, see <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-cerebellar-ataxia-type-1/">Autosomal recessive cerebellar ataxia type 1</a></li> <li>ARD, see <a href="https://medlineplus.gov/genetics/condition/refsum-disease/">Refsum disease</a></li> <li>ARG1 deficiency, see <a href="https://medlineplus.gov/genetics/condition/arginase-deficiency/">Arginase deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/arginase-deficiency/">Arginase deficiency</a></li> <li>Arginase deficiency disease, see <a href="https://medlineplus.gov/genetics/condition/arginase-deficiency/">Arginase deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-deficiency/">Arginine vasopressin deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance/">Arginine vasopressin resistance</a></li> <li><a href="https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency/">Arginine:glycine amidinotransferase deficiency</a></li> <li>Argininemia, see <a href="https://medlineplus.gov/genetics/condition/arginase-deficiency/">Arginase deficiency</a></li> <li>Argininosuccinate lyase deficiency, see <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li> <li>Argininosuccinic acidemia, see <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li> <li><a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li> <li>Argininosuccinicaciduria, see <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li> <li>Argininosuccinyl-CoA lyase deficiency, see <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li> <li>Arginosuccinase deficiency, see <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li> <li>Arhinia choanal atresia microphthalmia, see <a href="https://medlineplus.gov/genetics/condition/bosma-arhinia-microphthalmia-syndrome/">Bosma arhinia microphthalmia syndrome</a></li> <li>Arhinia, choanal atresia, and microphthalmia, see <a href="https://medlineplus.gov/genetics/condition/bosma-arhinia-microphthalmia-syndrome/">Bosma arhinia microphthalmia syndrome</a></li> <li>Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism, see <a href="https://medlineplus.gov/genetics/condition/bosma-arhinia-microphthalmia-syndrome/">Bosma arhinia microphthalmia syndrome</a></li> <li>ARMD, see <a href="https://medlineplus.gov/genetics/condition/age-related-macular-degeneration/">Age-related macular degeneration</a></li> <li><a href="https://medlineplus.gov/genetics/condition/aromatase-deficiency/">Aromatase deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/aromatase-excess-syndrome/">Aromatase excess syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/aromatic-l-amino-acid-decarboxylase-deficiency/">Aromatic l-amino acid decarboxylase deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li> <li>Arrhythmogenic right ventricular cardiomyopathy-dysplasia, see <a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li> <li>Arrhythmogenic right ventricular dysplasia, see <a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li> <li>Arrhythmogenic right ventricular dysplasia/cardiomyopathy, see <a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li> <li>ARS, see <a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li> <li>ARSA deficiency, see <a href="https://medlineplus.gov/genetics/condition/metachromatic-leukodystrophy/">Metachromatic leukodystrophy</a></li> <li>ARSACS, see <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay/">Autosomal recessive spastic ataxia of Charlevoix-Saguenay</a></li> <li>Arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly, see <a href="https://medlineplus.gov/genetics/condition/grange-syndrome/">Grange syndrome</a></li> <li>Arterial tortuosity, see <a href="https://medlineplus.gov/genetics/condition/arterial-tortuosity-syndrome/">Arterial tortuosity syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/arterial-tortuosity-syndrome/">Arterial tortuosity syndrome</a></li> <li>Arteriohepatic dysplasia (AHD), see <a href="https://medlineplus.gov/genetics/condition/alagille-syndrome/">Alagille syndrome</a></li> <li>Arteriopathia calcificans infantum, see <a href="https://medlineplus.gov/genetics/condition/generalized-arterial-calcification-of-infancy/">Generalized arterial calcification of infancy</a></li> <li>Arthritis, degenerative, see <a href="https://medlineplus.gov/genetics/condition/osteoarthritis/">Osteoarthritis</a></li> <li>Arthritis, gouty, see <a href="https://medlineplus.gov/genetics/condition/gout/">Gout</a></li> <li>Arthritis, juvenile rheumatoid, see <a href="https://medlineplus.gov/genetics/condition/juvenile-idiopathic-arthritis/">Juvenile idiopathic arthritis</a></li> <li>Arthritis, rheumatoid, see <a href="https://medlineplus.gov/genetics/condition/rheumatoid-arthritis/">Rheumatoid arthritis</a></li> <li>Arthro-dento-osteo dysplasia, see <a href="https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome/">Hajdu-Cheney syndrome</a></li> <li>Arthrocutaneouveal granulomatosis, see <a href="https://medlineplus.gov/genetics/condition/blau-syndrome/">Blau syndrome</a></li> <li>Arthrodentoosteodysplasia, see <a href="https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome/">Hajdu-Cheney syndrome</a></li> <li>Arthrogryposis multiplex congenita, distal, type 2B, see <a href="https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome/">Sheldon-Hall syndrome</a></li> <li>Arthrogryposis multiplex congenita, distal, X-linked, see <a href="https://medlineplus.gov/genetics/condition/x-linked-infantile-spinal-muscular-atrophy/">X-linked infantile spinal muscular atrophy</a></li> <li>Arthrogryposis, distal, type 1, see <a href="https://medlineplus.gov/genetics/condition/distal-arthrogryposis-type-1/">Distal arthrogryposis type 1</a></li> <li>Arthrogryposis, X-lined, type I, see <a href="https://medlineplus.gov/genetics/condition/x-linked-infantile-spinal-muscular-atrophy/">X-linked infantile spinal muscular atrophy</a></li> <li>Arthrogryposis-like syndrome, see <a href="https://medlineplus.gov/genetics/condition/kuskokwim-syndrome/">Kuskokwim syndrome</a></li> <li>Arthrogyroposis, distal, type 9, see <a href="https://medlineplus.gov/genetics/condition/congenital-contractural-arachnodactyly/">Congenital contractural arachnodactyly</a></li> <li>Arthropathic psoriasis, see <a href="https://medlineplus.gov/genetics/condition/psoriatic-arthritis/">Psoriatic arthritis</a></li> <li>Arthropathy, see <a href="https://medlineplus.gov/genetics/condition/osteoarthritis/">Osteoarthritis</a></li> <li>Articular gout, see <a href="https://medlineplus.gov/genetics/condition/gout/">Gout</a></li> <li><a href="https://medlineplus.gov/genetics/condition/arts-syndrome/">Arts syndrome</a></li> <li>ARVC, see <a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li> <li>ARVD, see <a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li> <li>ARVD/C, see <a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li> <li>Arylsulfatase A deficiency disease, see <a href="https://medlineplus.gov/genetics/condition/metachromatic-leukodystrophy/">Metachromatic leukodystrophy</a></li> <li>Arylsulfatase B deficiency, see <a href="https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-vi/">Mucopolysaccharidosis type VI</a></li> <li>Arylsulfatase E deficiency, see <a href="https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1/">X-linked chondrodysplasia punctata 1</a></li> <li>AS, see <a href="https://medlineplus.gov/genetics/condition/angelman-syndrome/">Angelman syndrome</a></li> <li>ASA, see <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li> <li>Asadollahi-Rauch syndrome, see <a href="https://medlineplus.gov/genetics/condition/med13l-syndrome/">MED13L syndrome</a></li> <li>ASAuria, see <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li> <li>ASD, see <a href="https://medlineplus.gov/genetics/condition/autism-spectrum-disorder/">Autism spectrum disorder</a></li> <li>Asidan ataxia, see <a href="https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-36/">Spinocerebellar ataxia type 36</a></li> <li>ASL deficiency, see <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li> <li>ASNS deficiency, see <a href="https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency/">Asparagine synthetase deficiency</a></li> <li>ASNSD, see <a href="https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency/">Asparagine synthetase deficiency</a></li> <li>Aspa deficiency, see <a href="https://medlineplus.gov/genetics/condition/canavan-disease/">Canavan disease</a></li> <li><a href="https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency/">Asparagine synthetase deficiency</a></li> <li>Aspartoacylase deficiency, see <a href="https://medlineplus.gov/genetics/condition/canavan-disease/">Canavan disease</a></li> <li>Aspartyl-tRNA synthetase deficiency, see <a href="https://medlineplus.gov/genetics/condition/hypomyelination-with-brainstem-and-spinal-cord-involvement-and-leg-spasticity/">Hypomyelination with brainstem and spinal cord involvement and leg spasticity</a></li> <li>Aspartylglucosamidase deficiency, see <a href="https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/">Aspartylglucosaminuria</a></li> <li>Aspartylglucosaminidase deficiency, see <a href="https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/">Aspartylglucosaminuria</a></li> <li><a href="https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/">Aspartylglucosaminuria</a></li> <li>Aspartylglycosaminuria, see <a href="https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/">Aspartylglucosaminuria</a></li> <li>Asphyxiating thoracic chondrodystrophy, see <a href="https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy/">Asphyxiating thoracic dystrophy</a></li> <li>Asphyxiating thoracic dysplasia, see <a href="https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy/">Asphyxiating thoracic dystrophy</a></li> <li><a href="https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy/">Asphyxiating thoracic dystrophy</a></li> <li>Asplenia, familial, see <a href="https://medlineplus.gov/genetics/condition/isolated-congenital-asplenia/">Isolated congenital asplenia</a></li> <li>Asplenia, isolated congenital, see <a href="https://medlineplus.gov/genetics/condition/isolated-congenital-asplenia/">Isolated congenital asplenia</a></li> <li>ASRAS, see <a href="https://medlineplus.gov/genetics/condition/med13l-syndrome/">MED13L syndrome</a></li> <li>Asymbolia for pain, see <a href="https://medlineplus.gov/genetics/condition/channelopathy-associated-congenital-insensitivity-to-pain/">Channelopathy-associated congenital insensitivity to pain</a></li> <li>Asymmetric hypoplasia of facial structures, see <a href="https://medlineplus.gov/genetics/condition/craniofacial-microsomia/">Craniofacial microsomia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/ataxia-neuropathy-spectrum/">Ataxia neuropathy spectrum</a></li> <li>Ataxia telangiectasia syndrome, see <a href="https://medlineplus.gov/genetics/condition/ataxia-telangiectasia/">Ataxia-telangiectasia</a></li> <li>Ataxia with isolated vitamin E deficiency, see <a href="https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency/">Ataxia with vitamin E deficiency</a></li> <li>Ataxia with lactic acidosis, see <a href="https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency/">Pyruvate dehydrogenase deficiency</a></li> <li>Ataxia with lactic acidosis, type II, see <a href="https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency/">Pyruvate carboxylase deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/ataxia-with-oculomotor-apraxia/">Ataxia with oculomotor apraxia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency/">Ataxia with vitamin E deficiency</a></li> <li>Ataxia, delayed dentition, and hypomyelination, see <a href="https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy/">Pol III-related leukodystrophy</a></li> <li>Ataxia, fatal X-linked, with deafness and loss of vision, see <a href="https://medlineplus.gov/genetics/condition/arts-syndrome/">Arts syndrome</a></li> <li>Ataxia-deafness-optic atrophy, lethal, see <a href="https://medlineplus.gov/genetics/condition/arts-syndrome/">Arts syndrome</a></li> <li>Ataxia-hypogonadism-choroidal dystrophy syndrome, see <a href="https://medlineplus.gov/genetics/condition/boucher-neuhauser-syndrome/">Boucher-Neuh盲user syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/ataxia-pancytopenia-syndrome/">Ataxia-pancytopenia syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/ataxia-telangiectasia/">Ataxia-telangiectasia</a></li> <li>Ataxia-telangiectasia variant 1, see <a href="https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome/">Nijmegen breakage syndrome</a></li> <li>ATD, see <a href="https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy/">Asphyxiating thoracic dystrophy</a></li> <li>Atelosteogenesis de la Chapelle type, see <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2/">Atelosteogenesis type 2</a></li> <li><a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1/">Atelosteogenesis type 1</a></li> <li><a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2/">Atelosteogenesis type 2</a></li> <li><a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3/">Atelosteogenesis type 3</a></li> <li>Atelosteogenesis type I, see <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1/">Atelosteogenesis type 1</a></li> <li>Atelosteogenesis type III, see <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3/">Atelosteogenesis type 3</a></li> <li>Atelosteogenesis, type 2, see <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2/">Atelosteogenesis type 2</a></li> <li>ATM, see <a href="https://medlineplus.gov/genetics/condition/ataxia-telangiectasia/">Ataxia-telangiectasia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/atopic-dermatitis/">Atopic dermatitis</a></li> <li>Atopic eczema, see <a href="https://medlineplus.gov/genetics/condition/atopic-dermatitis/">Atopic dermatitis</a></li> <li>ATP synthase deficiency, see <a href="https://medlineplus.gov/genetics/condition/mitochondrial-complex-v-deficiency/">Mitochondrial complex V deficiency</a></li> <li>ATP8B1-related intrahepatic cholestasis, see <a href="https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis/">Progressive familial intrahepatic cholestasis</a></li> <li>ATP8B1-related intrahepatic cholestasis, see <a href="https://medlineplus.gov/genetics/condition/benign-recurrent-intrahepatic-cholestasis/">Benign recurrent intrahepatic cholestasis</a></li> <li>ATR-X syndrome, see <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li> <li>Atrial fibrillation, familial, see <a href="https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation/">Familial atrial fibrillation</a></li> <li>Atrio-digital syndrome, see <a href="https://medlineplus.gov/genetics/condition/holt-oram-syndrome/">Holt-Oram syndrome</a></li> <li>Atriodigital dysplasia, see <a href="https://medlineplus.gov/genetics/condition/holt-oram-syndrome/">Holt-Oram syndrome</a></li> <li>Atrophia bulborum hereditaria, see <a href="https://medlineplus.gov/genetics/condition/norrie-disease/">Norrie disease</a></li> <li>ATRX syndrome, see <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li> <li>ATS, see <a href="https://medlineplus.gov/genetics/condition/arterial-tortuosity-syndrome/">Arterial tortuosity syndrome</a></li> <li>ATS, see <a href="https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome/">Andersen-Tawil syndrome</a></li> <li>Attention deficit, see <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li> <li>Attention deficit disorder, see <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li> <li>Attention deficit disorder of childhood with hyperactivity, see <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li> <li>Attention deficit disorder with hyperactivity, see <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li> <li>Attention deficit disorder with hyperactivity syndrome, see <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li> <li>Attention deficit hyperactivity disorder, see <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li> <li><a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li> <li>ATTR, see <a href="https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis/">Transthyretin amyloidosis</a></li> <li>ATXPC, see <a href="https://medlineplus.gov/genetics/condition/ataxia-pancytopenia-syndrome/">Ataxia-pancytopenia syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome/">Atypical hemolytic-uremic syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/au-kline-syndrome/">Au-Kline syndrome</a></li> <li>Auditory vertigo, see <a href="https://medlineplus.gov/genetics/condition/meniere-disease/">M茅ni猫re disease</a></li> <li>AUH defect, see <a href="https://medlineplus.gov/genetics/condition/3-methylglutaconyl-coa-hydratase-deficiency/">3-methylglutaconyl-CoA hydratase deficiency</a></li> <li>Aural vertigo, see <a href="https://medlineplus.gov/genetics/condition/meniere-disease/">M茅ni猫re disease</a></li> <li>Auricular fibrillation, see <a href="https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation/">Familial atrial fibrillation</a></li> <li><a href="https://medlineplus.gov/genetics/condition/auriculo-condylar-syndrome/">Auriculo-condylar syndrome</a></li> <li>Auriculobranchiogenic dysplasia, see <a href="https://medlineplus.gov/genetics/condition/craniofacial-microsomia/">Craniofacial microsomia</a></li> <li>Auriculocondylar syndrome, see <a href="https://medlineplus.gov/genetics/condition/auriculo-condylar-syndrome/">Auriculo-condylar syndrome</a></li> <li>Austin syndrome, see <a href="https://medlineplus.gov/genetics/condition/multiple-sulfatase-deficiency/">Multiple sulfatase deficiency</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autism-spectrum-disorder/">Autism spectrum disorder</a></li> <li>Autism, susceptibility to, 14A, see <a href="https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome/">16p11.2 deletion syndrome</a></li> <li>Autism, susceptibility to, 14B, see <a href="https://medlineplus.gov/genetics/condition/16p112-duplication/">16p11.2 duplication</a></li> <li>Autism-dementia-ataxia-loss of purposeful hand use syndrome, see <a href="https://medlineplus.gov/genetics/condition/rett-syndrome/">Rett syndrome</a></li> <li>Autistic continuum, see <a href="https://medlineplus.gov/genetics/condition/autism-spectrum-disorder/">Autism spectrum disorder</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autoimmune-addison-disease/">Autoimmune Addison disease</a></li> <li>Autoimmune Addison's disease, see <a href="https://medlineplus.gov/genetics/condition/autoimmune-addison-disease/">Autoimmune Addison disease</a></li> <li>Autoimmune adrenalitis, see <a href="https://medlineplus.gov/genetics/condition/autoimmune-addison-disease/">Autoimmune Addison disease</a></li> <li>Autoimmune chronic lymphocytic thyroiditis, see <a href="https://medlineplus.gov/genetics/condition/hashimotos-disease/">Hashimoto's disease</a></li> <li>Autoimmune diabetes, see <a href="https://medlineplus.gov/genetics/condition/type-1-diabetes/">Type 1 diabetes</a></li> <li>Autoimmune hyperthyroidism, see <a href="https://medlineplus.gov/genetics/condition/graves-disease/">Graves' disease</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-syndrome/">Autoimmune lymphoproliferative syndrome</a></li> <li>Autoimmune polyendocrinopathy syndrome type 1, see <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li> <li>Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy, see <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li> <li>Autoimmune polyglandular syndrome, type 1, see <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li> <li>Autoimmune thrombocytopenia, see <a href="https://medlineplus.gov/genetics/condition/immune-thrombocytopenia/">Immune thrombocytopenia</a></li> <li>Autoimmune thrombocytopenic purpura, see <a href="https://medlineplus.gov/genetics/condition/immune-thrombocytopenia/">Immune thrombocytopenia</a></li> <li>Autoimmune thyroiditis, see <a href="https://medlineplus.gov/genetics/condition/hashimotos-disease/">Hashimoto's disease</a></li> <li>Autoimmunity-immunodeficiency syndrome, X-linked, see <a href="https://medlineplus.gov/genetics/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome/">Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome</a></li> <li>Autoinflammation, lipodystrophy, and dermatosis syndrome, see <a href="https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome/">Nakajo-Nishimura syndrome</a></li> <li>Autoinflammation, panniculitis, and dermatosis syndrome, see <a href="https://medlineplus.gov/genetics/condition/otulipenia/">Otulipenia</a></li> <li>Autosomal dominant acute necrotizing encephalopathy, see <a href="https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1/">Acute necrotizing encephalopathy type 1</a></li> <li>Autosomal dominant adult-onset demyelinating leukodystrophy, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/">Autosomal dominant leukodystrophy with autonomic disease</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy/">Autosomal dominant cerebellar ataxia, deafness, and narcolepsy</a></li> <li>Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy/">Autosomal dominant cerebellar ataxia, deafness, and narcolepsy</a></li> <li>Autosomal dominant cerebrovascular amyloidosis, see <a href="https://medlineplus.gov/genetics/condition/hereditary-cerebral-amyloid-angiopathy/">Hereditary cerebral amyloid angiopathy</a></li> <li>Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, see <a href="https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-lower-extremity-predominance/">Spinal muscular atrophy with lower extremity predominance</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-congenital-stationary-night-blindness/">Autosomal dominant congenital stationary night blindness</a></li> <li>Autosomal dominant craniometaphyseal dysplasia, see <a href="https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/">Craniometaphyseal dysplasia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li> <li>Autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures, see <a href="https://medlineplus.gov/genetics/condition/hereditary-angiopathy-with-nephropathy-aneurysms-and-muscle-cramps-syndrome/">Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome</a></li> <li>Autosomal dominant familial periodic fever, see <a href="https://medlineplus.gov/genetics/condition/tumor-necrosis-factor-receptor-associated-periodic-syndrome/">Tumor necrosis factor receptor-associated periodic syndrome</a></li> <li>Autosomal dominant hereditary pancreatitis, see <a href="https://medlineplus.gov/genetics/condition/hereditary-pancreatitis/">Hereditary pancreatitis</a></li> <li>Autosomal dominant hereditary sensory radicular neuropathy, type 1A, see <a href="https://medlineplus.gov/genetics/condition/hereditary-sensory-neuropathy-type-ia/">Hereditary sensory neuropathy type IA</a></li> <li>Autosomal dominant HIES, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome/">Autosomal dominant hyper-IgE syndrome</a></li> <li>Autosomal dominant hyaline body myopathy, see <a href="https://medlineplus.gov/genetics/condition/myosin-storage-myopathy/">Myosin storage myopathy</a></li> <li>Autosomal dominant hyper-IgE recurrent infection syndrome, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome/">Autosomal dominant hyper-IgE syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome/">Autosomal dominant hyper-IgE syndrome</a></li> <li>Autosomal dominant hyperimmunoglobulin E recurrent infection syndrome, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome/">Autosomal dominant hyper-IgE syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hypocalcemia/">Autosomal dominant hypocalcemia</a></li> <li>Autosomal dominant hypoparathyroidism, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hypocalcemia/">Autosomal dominant hypocalcemia</a></li> <li>Autosomal dominant intellectual disability 25, see <a href="https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome/">Xia-Gibbs syndrome</a></li> <li>Autosomal dominant intellectual disability-17, see <a href="https://medlineplus.gov/genetics/condition/pacs1-syndrome/">PACS1 syndrome</a></li> <li>Autosomal dominant interstitial kidney disease, see <a href="https://medlineplus.gov/genetics/condition/medullary-cystic-kidney-disease-type-1/">Medullary cystic kidney disease type 1</a></li> <li>Autosomal dominant Job syndrome, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome/">Autosomal dominant hyper-IgE syndrome</a></li> <li>Autosomal dominant lateral temporal lobe epilepsy, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/">Autosomal dominant leukodystrophy with autonomic disease</a></li> <li>Autosomal dominant medullary cystic kidney disease, see <a href="https://medlineplus.gov/genetics/condition/medullary-cystic-kidney-disease-type-1/">Medullary cystic kidney disease type 1</a></li> <li>Autosomal dominant medullary cystic kidney disease 2, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li> <li>Autosomal dominant mental retardation 35, see <a href="https://medlineplus.gov/genetics/condition/ppp2r5d-related-intellectual-disability/">PPP2R5D-related intellectual disability</a></li> <li>Autosomal dominant MYH9 spectrum disorders, see <a href="https://medlineplus.gov/genetics/condition/myh9-related-disorder/">MYH9-related disorder</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy/">Autosomal dominant nocturnal frontal lobe epilepsy</a></li> <li>Autosomal dominant Opitz G/BBB syndrome, see <a href="https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/">22q11.2 deletion syndrome</a></li> <li>Autosomal dominant optic atrophy, see <a href="https://medlineplus.gov/genetics/condition/optic-atrophy-type-1/">Optic atrophy type 1</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-optic-atrophy-and-cataract/">Autosomal dominant optic atrophy and cataract</a></li> <li>Autosomal dominant optic atrophy Kjer type, see <a href="https://medlineplus.gov/genetics/condition/optic-atrophy-type-1/">Optic atrophy type 1</a></li> <li>Autosomal dominant optic atrophy type 3, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-optic-atrophy-and-cataract/">Autosomal dominant optic atrophy and cataract</a></li> <li>Autosomal dominant partial epilepsy with auditory features, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li> <li>Autosomal dominant porencephaly type 1, see <a href="https://medlineplus.gov/genetics/condition/familial-porencephaly/">Familial porencephaly</a></li> <li>Autosomal dominant spastic paraplegia 31, see <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-31/">Spastic paraplegia type 31</a></li> <li>Autosomal dominant spastic paraplegia 8, see <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-8/">Spastic paraplegia type 8</a></li> <li>Autosomal dominant tubulointerstitial kidney disease 1, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li> <li>Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation, see <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy/">Autosomal dominant vitreoretinochoroidopathy</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia/">Autosomal recessive axonal neuropathy with neuromyotonia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-cerebellar-ataxia-type-1/">Autosomal recessive cerebellar ataxia type 1</a></li> <li>Autosomal recessive cerebellar ataxia with mental retardation, see <a href="https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/">VLDLR-associated cerebellar hypoplasia</a></li> <li>Autosomal recessive cerebellar hypoplasia with cerebral gyral simplification, see <a href="https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/">VLDLR-associated cerebellar hypoplasia</a></li> <li>Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia, see <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia/">Autosomal recessive axonal neuropathy with neuromyotonia</a></li> <li>Autosomal recessive chronic granulomatous disease, see <a href="https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/">Chronic granulomatous disease</a></li> <li>Autosomal recessive complete congenital stationary night blindness, see <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-stationary-night-blindness/">Autosomal recessive congenital stationary night blindness</a></li> <li>Autosomal recessive congenital ichthyosis 4B, see <a href="https://medlineplus.gov/genetics/condition/harlequin-ichthyosis/">Harlequin ichthyosis</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-methemoglobinemia/">Autosomal recessive congenital methemoglobinemia</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-stationary-night-blindness/">Autosomal recessive congenital stationary night blindness</a></li> <li>Autosomal recessive craniometaphyseal dysplasia, see <a href="https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/">Craniometaphyseal dysplasia</a></li> <li>Autosomal recessive deafness-onychodystrophy syndrome, see <a href="https://medlineplus.gov/genetics/condition/doors-syndrome/">DOORS syndrome</a></li> <li>Autosomal recessive distal renal tubular acidosis with deafness, see <a href="https://medlineplus.gov/genetics/condition/renal-tubular-acidosis-with-deafness/">Renal tubular acidosis with deafness</a></li> <li>Autosomal recessive distal spinal muscular atrophy 1, see <a href="https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1/">Spinal muscular atrophy with respiratory distress type 1</a></li> <li>Autosomal recessive dopa-responsive dystonia, see <a href="https://medlineplus.gov/genetics/condition/tyrosine-hydroxylase-deficiency/">Tyrosine hydroxylase deficiency</a></li> <li>Autosomal recessive HIES, see <a href="https://medlineplus.gov/genetics/condition/dock8-immunodeficiency-syndrome/">DOCK8 immunodeficiency syndrome</a></li> <li>Autosomal recessive hyper-IgE syndrome, see <a href="https://medlineplus.gov/genetics/condition/dock8-immunodeficiency-syndrome/">DOCK8 immunodeficiency syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-hypotrichosis/">Autosomal recessive hypotrichosis</a></li> <li>Autosomal recessive incomplete congenital stationary night blindness, see <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-stationary-night-blindness/">Autosomal recessive congenital stationary night blindness</a></li> <li>Autosomal recessive infantile hypercalcemia, see <a href="https://medlineplus.gov/genetics/condition/idiopathic-infantile-hypercalcemia/">Idiopathic infantile hypercalcemia</a></li> <li>Autosomal recessive infantile parkinsonism, see <a href="https://medlineplus.gov/genetics/condition/tyrosine-hydroxylase-deficiency/">Tyrosine hydroxylase deficiency</a></li> <li>Autosomal recessive Larsen syndrome, see <a href="https://medlineplus.gov/genetics/condition/chst3-related-skeletal-dysplasia/">CHST3-related skeletal dysplasia</a></li> <li>Autosomal recessive localized hypotrichosis, see <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-hypotrichosis/">Autosomal recessive hypotrichosis</a></li> <li>Autosomal recessive long QT syndrome (LQTS), see <a href="https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome/">Jervell and Lange-Nielsen syndrome</a></li> <li>Autosomal recessive neuromyotonia and axonal neuropathy, see <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia/">Autosomal recessive axonal neuropathy with neuromyotonia</a></li> <li>Autosomal recessive OPA3, see <a href="https://medlineplus.gov/genetics/condition/costeff-syndrome/">Costeff syndrome</a></li> <li>Autosomal recessive optic atrophy 3, see <a href="https://medlineplus.gov/genetics/condition/costeff-syndrome/">Costeff syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-primary-microcephaly/">Autosomal recessive primary microcephaly</a></li> <li>Autosomal recessive Segawa syndrome, see <a href="https://medlineplus.gov/genetics/condition/tyrosine-hydroxylase-deficiency/">Tyrosine hydroxylase deficiency</a></li> <li>Autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter, see <a href="https://medlineplus.gov/genetics/condition/pendred-syndrome/">Pendred syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay/">Autosomal recessive spastic ataxia of Charlevoix-Saguenay</a></li> <li>Autosomal recessive spastic paraplegia 15, see <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-15/">Spastic paraplegia type 15</a></li> <li>Autosomal recessive spastic paraplegia 5A, see <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-5a/">Spastic paraplegia type 5A</a></li> <li>Autosomal recessive spastic paraplegia complicated with thin corpus callosum, see <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-11/">Spastic paraplegia type 11</a></li> <li>Autosomal recessive spastic paraplegia type 20, see <a href="https://medlineplus.gov/genetics/condition/troyer-syndrome/">Troyer syndrome</a></li> <li>Autosomal recessive spastic paraplegia type 49, see <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-49/">Spastic paraplegia type 49</a></li> <li>Autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum, see <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-11/">Spastic paraplegia type 11</a></li> <li>Autosomal recessive spinocerebellar ataxia 8, see <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-cerebellar-ataxia-type-1/">Autosomal recessive cerebellar ataxia type 1</a></li> <li>Autosomal recessive T cell-negative, B cell-positive, NK cell-negative severe combined immunodeficiency, see <a href="https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency/">JAK3-deficient severe combined immunodeficiency</a></li> <li>Autosomal recessive T-B+NK- SCID, see <a href="https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency/">JAK3-deficient severe combined immunodeficiency</a></li> <li>Autosomal recessive woolly hair with or without hypotrichosis, see <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-hypotrichosis/">Autosomal recessive hypotrichosis</a></li> <li>AUTS14A, see <a href="https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome/">16p11.2 deletion syndrome</a></li> <li>AUTS14B, see <a href="https://medlineplus.gov/genetics/condition/16p112-duplication/">16p11.2 duplication</a></li> <li>AVED, see <a href="https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency/">Ataxia with vitamin E deficiency</a></li> <li>AxD, see <a href="https://medlineplus.gov/genetics/condition/alexander-disease/">Alexander disease</a></li> <li>Axenfeld and Rieger anomaly, see <a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li> <li>Axenfeld anomaly, see <a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li> <li>Axenfeld syndrome, see <a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li> <li><a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li> <li>axial spondylarthritis, see <a href="https://medlineplus.gov/genetics/condition/ankylosing-spondylitis/">Ankylosing spondylitis</a></li> <li>AXRA, see <a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li> <li>AXRS, see <a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li> <li>Ayerza syndrome, see <a href="https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension/">Pulmonary arterial hypertension</a></li> <li>Azorean ataxia, see <a href="https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-3/">Spinocerebellar ataxia type 3</a></li> <li>Azorean disease, see <a href="https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-3/">Spinocerebellar ataxia type 3</a></li> </ul> </section> <section>  </section> </div> </article> </div> </div> <footer> <div id="mplus-footer"> <div class="footer1"> <ul class="secondarynav"> <li><a href="https://medlineplus.gov/about/">About MedlinePlus</a></li> <li><a href="https://medlineplus.gov/whatsnew/">What's New</a></li> <li><a href="https://medlineplus.gov/sitemap.html">Site Map</a></li> <li><a href="https://support.nlm.nih.gov/knowledgebase/category/?id=CAT-01231&category=medlineplus&from=https%3A//medlineplus.gov/genetics/condition/" target="_blank">Customer Support</a></li> </ul> <ul class="follow-footer"> <li> <a href="https://medlineplus.gov/rss.html" class="follow-item">Subscribe to RSS<img src="https://medlineplus.gov/images/feed.png" class="social-media-toolkit-icon" alt="RSS" title="RSS"></a> </li> <li> Follow us <a href="https://twitter.com/medlineplus" class="follow-item" target="_blank"> <img src="https://medlineplus.gov/images/i_share_twitter.png" class="follow-icon" alt="X" title="X"> </a> <a href="https://facebook.com/Mplus.gov/" class="follow-item" target="_blank"> <img src="https://medlineplus.gov/images/i_share_fb.png" class="follow-icon" alt="Facebook" title="Facebook"> </a> <a href="https://www.instagram.com/mplusgov/" class="follow-item" target="_blank"> <img src="https://medlineplus.gov/images/Instagram_Glyph_Gradient_RGB.png" class="follow-icon" alt="Instagram" title="Instagram"> </a> </li> <li> <a href="https://medlineplus.gov/social-media-toolkit/" class="social-media-toolkit-item">Social Media Toolkit<img src="https://medlineplus.gov/images/i_social_media_toolkit.png" class="social-media-toolkit-icon" alt="Social Media Toolkit" title="Social Media Toolkit"></a> </li> </ul> </div> <div class="footer2"> <ul> <li><a href=" https://www.nlm.nih.gov/web_policies.html" target='_blank'>NLM Web Policies</a></li> <li><a href="https://medlineplus.gov/about/using/usingcontent/" >Copyright</a></li> <li><a href="https://medlineplus.gov/accessibility.html">Accessibility</a></li> <li><a href="https://medlineplus.gov/about/using/criteria/">Guidelines for Links</a></li> <li><a href="https://medlineplus.gov/plugins.html">Viewers & Players</a></li> <li><a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" target="_blank">HHS Vulnerability Disclosure</a></li> <li><a href="https://medlineplus.gov/medlineplus-connect/">MedlinePlus Connect for EHRs</a></li> <li><a href="https://medlineplus.gov/about/developers/">For Developers</a></li> </ul> <div class="address"> <a href="https://www.nlm.nih.gov" target="_blank">National Library of Medicine</a> 8600 Rockville Pike, Bethesda, MD 20894 <a href="https://www.hhs.gov" target="_blank">U.S. Department of Health and Human Services</a> <a href="https://www.nih.gov" target="_blank">National Institutes of Health</a> </div> <div class="date"> </div> <div class="return-top"><a href="#top" title="Return to top"><img class="return-top-icon" alt="Return to top" src="https://medlineplus.gov/images/return-top.png"></a></div> </div> </div> </footer> </div> <script src="https://medlineplus.gov/jslib/jquery-3.6.0.min.js" type="text/javascript"></script> <script src="https://medlineplus.gov/jslib/mplus-frontend-controls-new.js" type="text/javascript"></script> <script src="https://medlineplus.gov/jslib/mplus-share.js?id=1112022" type="text/javascript"></script>  <script src="https://medlineplus.gov/jslib/control.js" type="text/javascript"></script> <script src="https://medlineplus.gov/uswds/js/uswds.min.js" type="text/javascript"></script> </body> </html>

CINXE.COM

MedlinePlus: Genetic Conditions