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<div class="main-content lit-style"><div class="body-content whole_rhythm"><div id="kmt2e-ndd.T.kmt2erelated_neurodevelopmen" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p><i>KMT2E</i>-Related Neurodevelopmental Disorder: Select Features</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK602945/table/kmt2e-ndd.T.kmt2erelated_neurodevelopmen/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__kmt2e-ndd.T.kmt2erelated_neurodevelopmen_lrgtbl__"><table><thead><tr><th id="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Feature</th><th id="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of Persons w/Feature</th><th id="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Developmental delay</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">56/58 (97%)</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intellectual disability</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">31/37 (84%)</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Typically in the mild-to-moderate range</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Brain abnormalities</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">27/43 (63%)</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Macrocephaly</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">29/52 (56%)</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Incl relative macrocephaly compared to length/height</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gastrointestinal issues</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">20/45 (44%)</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Most frequently constipation; gastroesophageal reflux & vomiting has also been reported</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sleep disturbance</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">8/17 (47%)</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hypotonia</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">23/50 (46%)</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Autism spectrum disorder</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">18/47 (38%)</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Seizures</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">16/56 (29%)</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Microcephaly</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3/5 (60%)</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">In persons w/<a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a> pathogenic variants only (See <a href="/books/NBK602945/#kmt2e-ndd.GenotypePhenotype_Correlations" target="mainwindow">Genotype-Phenotype Correlations</a>.)</td></tr></tbody></table></div></div><div id="bk_toc_contnr"></div></div></div>
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