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<span>Genetic Conditions: 0-9</span>
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<h1>Genetic Conditions: 0-9</h1>
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<p>Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.</p>
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<span class='blue-label'>Other genetic conditions A-Z</span>
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<li><span class="active">0-9</span></li>
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<li><a href="https://medlineplus.gov/genetics/condition/" data-alpha="A">A</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-b/" data-alpha="B">B</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-c/" data-alpha="C">C</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-d/" data-alpha="D">D</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-e/" data-alpha="E">E</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-f/" data-alpha="F">F</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-g/" data-alpha="G">G</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-h/" data-alpha="H">H</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-i/" data-alpha="I">I</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-j/" data-alpha="J">J</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-k/" data-alpha="K">K</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-l/" data-alpha="L">L</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-m/" data-alpha="M">M</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-n/" data-alpha="N">N</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-o/" data-alpha="O">O</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-p/" data-alpha="P">P</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-q/" data-alpha="Q">Q</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-r/" data-alpha="R">R</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-s/" data-alpha="S">S</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-t/" data-alpha="T">T</a></li>
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|
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<li><a href="https://medlineplus.gov/genetics/condition-u/" data-alpha="U">U</a></li>
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||
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<li><a href="https://medlineplus.gov/genetics/condition-v/" data-alpha="V">V</a></li>
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||
|
||
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<li><a href="https://medlineplus.gov/genetics/condition-w/" data-alpha="W">W</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-x/" data-alpha="X">X</a></li>
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|
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<li><a href="https://medlineplus.gov/genetics/condition-y/" data-alpha="Y">Y</a></li>
|
||
|
||
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||
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<li><a href="https://medlineplus.gov/genetics/condition-z/" data-alpha="Z">Z</a></li>
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</section>
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<section>
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|
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<ul class="withident breaklist">
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome/">10q26 deletion syndrome</a></li>
|
||
|
||
<li>10qter deletion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome/">10q26 deletion syndrome</a></li>
|
||
|
||
|
||
<li>11 beta hydroxylase deficiency, <i>see</i> <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>11b hydroxylase deficiency, <i>see</i> <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>11p deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wagr-syndrome/">WAGR syndrome</a></li>
|
||
|
||
|
||
<li>11p partial monosomy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wagr-syndrome/">WAGR syndrome</a></li>
|
||
|
||
|
||
<li>11q deletion disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/jacobsen-syndrome/">Jacobsen syndrome</a></li>
|
||
|
||
|
||
<li>11q deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/jacobsen-syndrome/">Jacobsen syndrome</a></li>
|
||
|
||
|
||
<li>11q terminal deletion disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/jacobsen-syndrome/">Jacobsen syndrome</a></li>
|
||
|
||
|
||
<li>11q- deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/jacobsen-syndrome/">Jacobsen syndrome</a></li>
|
||
|
||
|
||
<li>11q23 deletion disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/jacobsen-syndrome/">Jacobsen syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/15q11-q13-duplication-syndrome/">15q11-q13 duplication syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/15q133-microdeletion/">15q13.3 microdeletion</a></li>
|
||
|
||
<li>15q13.3 microdeletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/15q133-microdeletion/">15q13.3 microdeletion</a></li>
|
||
|
||
|
||
<li>15q24 deletion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/15q24-microdeletion/">15q24 microdeletion</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/15q24-microdeletion/">15q24 microdeletion</a></li>
|
||
|
||
<li>15q24 microdeletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/15q24-microdeletion/">15q24 microdeletion</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome/">16p11.2 deletion syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/16p112-duplication/">16p11.2 duplication</a></li>
|
||
|
||
<li>16p11.2 duplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/16p112-duplication/">16p11.2 duplication</a></li>
|
||
|
||
|
||
<li>16p11.2 microduplication, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/16p112-duplication/">16p11.2 duplication</a></li>
|
||
|
||
|
||
<li>16p12.1 microdeletion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/16p122-microdeletion/">16p12.2 microdeletion</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/16p122-microdeletion/">16p12.2 microdeletion</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/17-alpha-hydroxylase-17-20-lyase-deficiency/">17 alpha-hydroxylase/17,20-lyase deficiency</a></li>
|
||
|
||
<li>17-alpha-hydroxylase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17-alpha-hydroxylase-17-20-lyase-deficiency/">17 alpha-hydroxylase/17,20-lyase deficiency</a></li>
|
||
|
||
|
||
<li>17-alpha-hydroxylase-deficient congenital adrenal hyperplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17-alpha-hydroxylase-17-20-lyase-deficiency/">17 alpha-hydroxylase/17,20-lyase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/">17-beta hydroxysteroid dehydrogenase 3 deficiency</a></li>
|
||
|
||
<li>17-beta hydroxysteroid dehydrogenase III deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/">17-beta hydroxysteroid dehydrogenase 3 deficiency</a></li>
|
||
|
||
|
||
<li>17-beta-hydroxysteroid dehydrogenase IV deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/d-bifunctional-protein-deficiency/">D-bifunctional protein deficiency</a></li>
|
||
|
||
|
||
<li>17-ketosteroid reductase deficiency of testis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/">17-beta hydroxysteroid dehydrogenase 3 deficiency</a></li>
|
||
|
||
|
||
<li>17-KSR deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/">17-beta hydroxysteroid dehydrogenase 3 deficiency</a></li>
|
||
|
||
|
||
<li>17p- syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/smith-magenis-syndrome/">Smith-Magenis syndrome</a></li>
|
||
|
||
|
||
<li>17p11.2 duplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome/">Potocki-Lupski syndrome</a></li>
|
||
|
||
|
||
<li>17p11.2 microduplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome/">Potocki-Lupski syndrome</a></li>
|
||
|
||
|
||
<li>17p11.2 monosomy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/smith-magenis-syndrome/">Smith-Magenis syndrome</a></li>
|
||
|
||
|
||
<li>17q12 chromosomal microdeletion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome/">17q12 deletion syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome/">17q12 deletion syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/17q12-duplication/">17q12 duplication</a></li>
|
||
|
||
<li>17q12 duplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17q12-duplication/">17q12 duplication</a></li>
|
||
|
||
|
||
<li>17q12 microdeletion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome/">17q12 deletion syndrome</a></li>
|
||
|
||
|
||
<li>17q12 microduplication, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17q12-duplication/">17q12 duplication</a></li>
|
||
|
||
|
||
<li>17q12 microduplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17q12-duplication/">17q12 duplication</a></li>
|
||
|
||
|
||
<li>17q12 recurrent deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome/">17q12 deletion syndrome</a></li>
|
||
|
||
|
||
<li>17q12 recurrent duplication, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17q12-duplication/">17q12 duplication</a></li>
|
||
|
||
|
||
<li>17q21.31 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome/">Koolen-de Vries syndrome</a></li>
|
||
|
||
|
||
<li>17q21.31 microdeletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome/">Koolen-de Vries syndrome</a></li>
|
||
|
||
|
||
<li>17β-hydroxysteroid dehydrogenase type 10 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hsd10-disease/">HSD10 disease</a></li>
|
||
|
||
|
||
<li>18-hydroxylase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li>
|
||
|
||
|
||
<li>18-oxidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li>
|
||
|
||
|
||
<li>18p isochromosome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tetrasomy-18p/">Tetrasomy 18p</a></li>
|
||
|
||
|
||
<li>18p tetrasomy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tetrasomy-18p/">Tetrasomy 18p</a></li>
|
||
|
||
|
||
<li>18q deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/proximal-18q-deletion-syndrome/">Proximal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>18q deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-18q-deletion-syndrome/">Distal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>18q- syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/proximal-18q-deletion-syndrome/">Proximal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>18q- syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-18q-deletion-syndrome/">Distal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome/">19p13.13 deletion syndrome</a></li>
|
||
|
||
<li>19p13.13 microdeletion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome/">19p13.13 deletion syndrome</a></li>
|
||
|
||
|
||
<li>19p13.13 microdeletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome/">19p13.13 deletion syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome/">1p36 deletion syndrome</a></li>
|
||
|
||
<li>1q21.1 contiguous gene deletion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/1q211-microdeletion/">1q21.1 microdeletion</a></li>
|
||
|
||
|
||
<li>1q21.1 deletion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/1q211-microdeletion/">1q21.1 microdeletion</a></li>
|
||
|
||
|
||
<li>1q21.1 duplication, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/1q211-microduplication/">1q21.1 microduplication</a></li>
|
||
|
||
|
||
<li>1q21.1 duplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/1q211-microduplication/">1q21.1 microduplication</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/1q211-microdeletion/">1q21.1 microdeletion</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/1q211-microduplication/">1q21.1 microduplication</a></li>
|
||
|
||
<li>2,8-dihydroxyadenine urolithiasis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency/">Adenine phosphoribosyltransferase deficiency</a></li>
|
||
|
||
|
||
<li>2,8-dihydroxyadeninuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency/">Adenine phosphoribosyltransferase deficiency</a></li>
|
||
|
||
|
||
<li>2-HGA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/2-hydroxyglutaric-aciduria/">2-hydroxyglutaric aciduria</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/2-hydroxyglutaric-aciduria/">2-hydroxyglutaric aciduria</a></li>
|
||
|
||
<li>2-MBADD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency/">Short/branched chain acyl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>2-MBCD deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency/">Short/branched chain acyl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>2-MBG, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency/">Short/branched chain acyl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>2-methyl-3-hydroxybutyric aciduria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hsd10-disease/">HSD10 disease</a></li>
|
||
|
||
|
||
<li>2-methyl-3-hydroxybutyricacidemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency/">Beta-ketothiolase deficiency</a></li>
|
||
|
||
|
||
<li>2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hsd10-disease/">HSD10 disease</a></li>
|
||
|
||
|
||
<li>2-methylacetoacetyl-coenzyme A thiolase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency/">Beta-ketothiolase deficiency</a></li>
|
||
|
||
|
||
<li>2-methylbutyryl glycinuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency/">Short/branched chain acyl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>2-methylbutyryl-CoA dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency/">Short/branched chain acyl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>2-methylbutyryl-coenzyme A dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency/">Short/branched chain acyl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency/">21-hydroxylase deficiency</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/">22q11.2 deletion syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/22q112-duplication/">22q11.2 duplication</a></li>
|
||
|
||
<li>22q11.2DS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/">22q11.2 deletion syndrome</a></li>
|
||
|
||
|
||
<li>22q13 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome/">22q13.3 deletion syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome/">22q13.3 deletion syndrome</a></li>
|
||
|
||
<li>2M3HBA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hsd10-disease/">HSD10 disease</a></li>
|
||
|
||
|
||
<li>2q23.1 microdeletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mbd5-associated-neurodevelopmental-disorder/">MBD5-associated neurodevelopmental disorder</a></li>
|
||
|
||
|
||
<li>2q23.1 microduplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mbd5-associated-neurodevelopmental-disorder/">MBD5-associated neurodevelopmental disorder</a></li>
|
||
|
||
|
||
<li>2q32 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/satb2-associated-syndrome/">SATB2-associated syndrome</a></li>
|
||
|
||
|
||
<li>2q33.1 microdeletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/satb2-associated-syndrome/">SATB2-associated syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome/">2q37 deletion syndrome</a></li>
|
||
|
||
<li>2q37 microdeletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome/">2q37 deletion syndrome</a></li>
|
||
|
||
|
||
<li>3 beta-HSD deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency/">3-beta-hydroxysteroid dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>3 beta-ol dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency/">3-beta-hydroxysteroid dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>3 methylglutaconic aciduria, type II, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/barth-syndrome/">Barth syndrome</a></li>
|
||
|
||
|
||
<li>3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency/">3-hydroxyacyl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>3-alpha-oxothiolase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency/">Beta-ketothiolase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency/">3-beta-hydroxysteroid dehydrogenase deficiency</a></li>
|
||
|
||
<li>3-beta–hydroxysteroid dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency/">3-beta-hydroxysteroid dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hsd10-disease/">HSD10 disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency/">3-hydroxy-3-methylglutaryl-CoA lyase deficiency</a></li>
|
||
|
||
<li>3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency/">3-hydroxy-3-methylglutaryl-CoA lyase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency/">3-hydroxyacyl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
<li>3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency/">Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>3-hydroxyacyl-coenzyme A dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency/">3-hydroxyacyl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>3-ketothiolase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency/">Beta-ketothiolase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/3-m-syndrome/">3-M syndrome</a></li>
|
||
|
||
<li>3-MCC deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-methylcrotonyl-coa-carboxylase-deficiency/">3-methylcrotonyl-CoA carboxylase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/3-methylcrotonyl-coa-carboxylase-deficiency/">3-methylcrotonyl-CoA carboxylase deficiency</a></li>
|
||
|
||
<li>3-methylcrotonylglycinuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-methylcrotonyl-coa-carboxylase-deficiency/">3-methylcrotonyl-CoA carboxylase deficiency</a></li>
|
||
|
||
|
||
<li>3-methylglutaconic aciduria type 2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/barth-syndrome/">Barth syndrome</a></li>
|
||
|
||
|
||
<li>3-methylglutaconic aciduria type 3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/costeff-syndrome/">Costeff syndrome</a></li>
|
||
|
||
|
||
<li>3-methylglutaconic aciduria type 7, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/clpb-deficiency/">CLPB deficiency</a></li>
|
||
|
||
|
||
<li>3-methylglutaconic aciduria type III, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/costeff-syndrome/">Costeff syndrome</a></li>
|
||
|
||
|
||
<li>3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/megdel-syndrome/">MEGDEL syndrome</a></li>
|
||
|
||
|
||
<li>3-methylglutaconic aciduria type V, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dilated-cardiomyopathy-with-ataxia-syndrome/">Dilated cardiomyopathy with ataxia syndrome</a></li>
|
||
|
||
|
||
<li>3-methylglutaconic aciduria type VII, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/clpb-deficiency/">CLPB deficiency</a></li>
|
||
|
||
|
||
<li>3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/clpb-deficiency/">CLPB deficiency</a></li>
|
||
|
||
|
||
<li>3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/megdel-syndrome/">MEGDEL syndrome</a></li>
|
||
|
||
|
||
<li>3-methylglutaconic aciduria, type I, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-methylglutaconyl-coa-hydratase-deficiency/">3-methylglutaconyl-CoA hydratase deficiency</a></li>
|
||
|
||
|
||
<li>3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/clpb-deficiency/">CLPB deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/3-methylglutaconyl-coa-hydratase-deficiency/">3-methylglutaconyl-CoA hydratase deficiency</a></li>
|
||
|
||
<li>3-MG-CoA-hydratase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-methylglutaconyl-coa-hydratase-deficiency/">3-methylglutaconyl-CoA hydratase deficiency</a></li>
|
||
|
||
|
||
<li>3-MSBN, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-m-syndrome/">3-M syndrome</a></li>
|
||
|
||
|
||
<li>3-OH 3-CH3 glutaric aciduria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency/">3-hydroxy-3-methylglutaryl-CoA lyase deficiency</a></li>
|
||
|
||
|
||
<li>3-OH 3-methyl glutaric aciduria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency/">3-hydroxy-3-methylglutaryl-CoA lyase deficiency</a></li>
|
||
|
||
|
||
<li>3-oxoacid CoA transferase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency/">Succinyl-CoA:3-ketoacid CoA transferase deficiency</a></li>
|
||
|
||
|
||
<li>3-oxothiolase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency/">Beta-ketothiolase deficiency</a></li>
|
||
|
||
|
||
<li>3-PGDH deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-dehydrogenase-deficiency/">Phosphoglycerate dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>3-phosphoglycerate dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-dehydrogenase-deficiency/">Phosphoglycerate dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>3b-hydroxysteroid dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency/">3-beta-hydroxysteroid dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>3beta-HSDH deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-1/">Congenital bile acid synthesis defect type 1</a></li>
|
||
|
||
|
||
<li>3beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-1/">Congenital bile acid synthesis defect type 1</a></li>
|
||
|
||
|
||
<li>3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-1/">Congenital bile acid synthesis defect type 1</a></li>
|
||
|
||
|
||
<li>3H2MBD deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hsd10-disease/">HSD10 disease</a></li>
|
||
|
||
|
||
<li>3HMG, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency/">3-hydroxy-3-methylglutaryl-CoA lyase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/3mc-syndrome/">3MC syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/3p-deletion-syndrome/">3p deletion syndrome</a></li>
|
||
|
||
<li>3p partial monosomy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3p-deletion-syndrome/">3p deletion syndrome</a></li>
|
||
|
||
|
||
<li>3p- syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3p-deletion-syndrome/">3p deletion syndrome</a></li>
|
||
|
||
|
||
<li>3q subtelomere deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3q29-microdeletion-syndrome/">3q29 microdeletion syndrome</a></li>
|
||
|
||
|
||
<li>3q29 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3q29-microdeletion-syndrome/">3q29 microdeletion syndrome</a></li>
|
||
|
||
|
||
<li>3q29 interstitial microduplication, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3q29-microduplication-syndrome/">3q29 microduplication syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/3q29-microdeletion-syndrome/">3q29 microdeletion syndrome</a></li>
|
||
|
||
<li>3q29 microduplication, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3q29-microduplication-syndrome/">3q29 microduplication syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/3q29-microduplication-syndrome/">3q29 microduplication syndrome</a></li>
|
||
|
||
<li>3q29 recurrent deletion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3q29-microdeletion-syndrome/">3q29 microdeletion syndrome</a></li>
|
||
|
||
|
||
<li>3β-HSD deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency/">3-beta-hydroxysteroid dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>3β-HSD deficiency congenital adrenal hyperplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency/">3-beta-hydroxysteroid dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>3β-hydroxysteroid dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency/">3-beta-hydroxysteroid dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>4 alpha aminobutyrate transaminase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gaba-transaminase-deficiency/">GABA-transaminase deficiency</a></li>
|
||
|
||
|
||
<li>4-hydroxybutyric aciduria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/succinic-semialdehyde-dehydrogenase-deficiency/">Succinic semialdehyde dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>45,X, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/turner-syndrome/">Turner syndrome</a></li>
|
||
|
||
|
||
<li>46,XX disorder of sex development (DSD) due to placental aromatase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aromatase-deficiency/">Aromatase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/46xx-testicular-difference-of-sex-development/">46,XX testicular difference of sex development</a></li>
|
||
|
||
<li>46,XX testicular disorder of sex development, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/46xx-testicular-difference-of-sex-development/">46,XX testicular difference of sex development</a></li>
|
||
|
||
|
||
<li>46,XX testicular DSD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/46xx-testicular-difference-of-sex-development/">46,XX testicular difference of sex development</a></li>
|
||
|
||
|
||
<li>46,XY CGD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/swyer-syndrome/">Swyer syndrome</a></li>
|
||
|
||
|
||
<li>46,XY complete gonadal dysgenesis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/swyer-syndrome/">Swyer syndrome</a></li>
|
||
|
||
|
||
<li>46,XY disorder of sex development due to LH defects, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/">Leydig cell hypoplasia</a></li>
|
||
|
||
|
||
<li>46,XY sex reversal, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/swyer-syndrome/">Swyer syndrome</a></li>
|
||
|
||
|
||
<li>47,XX,+21, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/down-syndrome/">Down syndrome</a></li>
|
||
|
||
|
||
<li>47,XXX, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trisomy-x/">Trisomy X</a></li>
|
||
|
||
|
||
<li>47,XXX syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trisomy-x/">Trisomy X</a></li>
|
||
|
||
|
||
<li>47,XXY syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/klinefelter-syndrome/">Klinefelter syndrome</a></li>
|
||
|
||
|
||
<li>47,XY,+21, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/down-syndrome/">Down syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/47xyy-syndrome/">47,XYY syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/48xxxy-syndrome/">48,XXXY syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/48xxyy-syndrome/">48,XXYY syndrome</a></li>
|
||
|
||
<li>49,XXXXY chromosomal anomaly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/49xxxxy-syndrome/">49,XXXXY syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/49xxxxy-syndrome/">49,XXXXY syndrome</a></li>
|
||
|
||
<li>4H syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy/">Pol III-related leukodystrophy</a></li>
|
||
|
||
|
||
<li>4p deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/">Wolf-Hirschhorn syndrome</a></li>
|
||
|
||
|
||
<li>4p- syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/">Wolf-Hirschhorn syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/5-alpha-reductase-deficiency/">5-alpha reductase deficiency</a></li>
|
||
|
||
<li>5-oxoprolinemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutathione-synthetase-deficiency/">Glutathione synthetase deficiency</a></li>
|
||
|
||
|
||
<li>5-oxoprolinuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutathione-synthetase-deficiency/">Glutathione synthetase deficiency</a></li>
|
||
|
||
|
||
<li>5p deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/">Cri-du-chat syndrome</a></li>
|
||
|
||
|
||
<li>5p- syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/">Cri-du-chat syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/5q-minus-syndrome/">5q minus syndrome</a></li>
|
||
|
||
<li>5q SMA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy/">Spinal muscular atrophy</a></li>
|
||
|
||
|
||
<li>5q- syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/5q-minus-syndrome/">5q minus syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/5q313-microdeletion-syndrome/">5q31.3 microdeletion syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/6q24-related-transient-neonatal-diabetes-mellitus/">6q24-related transient neonatal diabetes mellitus</a></li>
|
||
|
||
<li>6q24-TNDM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/6q24-related-transient-neonatal-diabetes-mellitus/">6q24-related transient neonatal diabetes mellitus</a></li>
|
||
|
||
|
||
<li>7-dehydrocholesterol reductase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/smith-lemli-opitz-syndrome/">Smith-Lemli-Opitz syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/">7q11.23 duplication syndrome</a></li>
|
||
|
||
<li>7q11.23 microduplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/">7q11.23 duplication syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/8p11-myeloproliferative-syndrome/">8p11 myeloproliferative syndrome</a></li>
|
||
|
||
<li>8p11 stem cell leukemia/lymphoma syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/8p11-myeloproliferative-syndrome/">8p11 myeloproliferative syndrome</a></li>
|
||
|
||
|
||
<li>8p11 stem cell syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/8p11-myeloproliferative-syndrome/">8p11 myeloproliferative syndrome</a></li>
|
||
|
||
|
||
<li>9q subtelomeric deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kleefstra-syndrome/">Kleefstra syndrome</a></li>
|
||
|
||
|
||
<li>9q- syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kleefstra-syndrome/">Kleefstra syndrome</a></li>
|
||
|
||
|
||
<li>9q22 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/9q223-microdeletion/">9q22.3 microdeletion</a></li>
|
||
|
||
|
||
<li>9q22.3 deletion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/9q223-microdeletion/">9q22.3 microdeletion</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/9q223-microdeletion/">9q22.3 microdeletion</a></li>
|
||
|
||
<li>9q34.3 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kleefstra-syndrome/">Kleefstra syndrome</a></li>
|
||
|
||
|
||
<li>9q34.3 microdeletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kleefstra-syndrome/">Kleefstra syndrome</a></li>
|
||
|
||
|
||
</ul>
|
||
|
||
</section>
|
||
|
||
<section>
|
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