{"id":2393,"date":"2025-07-20T11:50:13","date_gmt":"2025-07-20T09:50:13","guid":{"rendered":"https:\/\/kleefstrasyndrome.com\/?p=2393"},"modified":"2026-08-21T06:53:54","modified_gmt":"2026-08-21T04:53:54","slug":"genotype-phenotype-kleefstra-syndrome-boston","status":"publish","type":"post","link":"https:\/\/kleefstrasyndrome.com\/el\/genotype-phenotype-kleefstra-syndrome-boston\/","title":{"rendered":"\u039d\u03ad\u03b1 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03b1\u03c0\u03cc \u03c4\u03bf Boston Children\u2019s Hospital \u03b4\u03b9\u03b5\u03c5\u03c1\u03cd\u03bd\u03b5\u03b9 \u03c4\u03b7\u03bd \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03c4\u03bf\u03c5 \u03a3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Kleefstra"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">\u039c\u03b9\u03b1 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd <strong>Kleefstra Syndrome Clinic \u03c4\u03bf\u03c5 Boston Children\u2019s Hospital<\/strong> \u03c0\u03c1\u03bf\u03c3\u03c6\u03ad\u03c1\u03b5\u03b9 \u03bc\u03af\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b9\u03c2 \u03c0\u03b9\u03bf \u03bb\u03b5\u03c0\u03c4\u03bf\u03bc\u03b5\u03c1\u03b5\u03af\u03c2 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ad\u03c2 \u03b5\u03b9\u03ba\u03cc\u03bd\u03b5\u03c2 \u03c4\u03bf\u03c5 \u03a3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Kleefstra \u03bc\u03ad\u03c7\u03c1\u03b9 \u03c3\u03ae\u03bc\u03b5\u03c1\u03b1 \u03ba\u03b1\u03b9 \u03b5\u03c0\u03b9\u03c7\u03b5\u03b9\u03c1\u03b5\u03af \u03bd\u03b1 \u03b1\u03c0\u03b1\u03bd\u03c4\u03ae\u03c3\u03b5\u03b9 \u03c3\u03b5 \u03ad\u03bd\u03b1 \u03b5\u03c1\u03ce\u03c4\u03b7\u03bc\u03b1 \u03c0\u03bf\u03c5 \u03b1\u03c0\u03b1\u03c3\u03c7\u03bf\u03bb\u03b5\u03af \u03b5\u03b4\u03ce \u03ba\u03b1\u03b9 \u03c7\u03c1\u03cc\u03bd\u03b9\u03b1 \u03bf\u03b9\u03ba\u03bf\u03b3\u03ad\u03bd\u03b5\u03b9\u03b5\u03c2 \u03ba\u03b1\u03b9 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ad\u03c2. \u039c\u03c0\u03bf\u03c1\u03b5\u03af \u03c4\u03bf \u03b5\u03af\u03b4\u03bf\u03c2 \u03c4\u03b7\u03c2 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae\u03c2 \u03bc\u03b5\u03c4\u03b1\u03b2\u03bf\u03bb\u03ae\u03c2 \u03bd\u03b1 \u03c3\u03c7\u03b5\u03c4\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03bc\u03b5 \u03c4\u03bf \u03c0\u03ce\u03c2 \u03b5\u03ba\u03b4\u03b7\u03bb\u03ce\u03bd\u03b5\u03c4\u03b1\u03b9 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03bc\u03b5 \u03c4\u03af\u03c4\u03bb\u03bf <em>Novel Phenotypes and Genotype\u2013Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome<\/em> \u03b4\u03b7\u03bc\u03bf\u03c3\u03b9\u03b5\u03cd\u03b8\u03b7\u03ba\u03b5 \u03c3\u03c4\u03bf \u03b5\u03c0\u03b9\u03c3\u03c4\u03b7\u03bc\u03bf\u03bd\u03b9\u03ba\u03cc \u03c0\u03b5\u03c1\u03b9\u03bf\u03b4\u03b9\u03ba\u03cc <strong>Clinical Genetics<\/strong> \u03ba\u03b1\u03b9 \u03b2\u03b1\u03c3\u03af\u03c3\u03c4\u03b7\u03ba\u03b5 \u03c3\u03c4\u03b7\u03bd \u03b1\u03bd\u03b1\u03b4\u03c1\u03bf\u03bc\u03b9\u03ba\u03ae \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03c4\u03c9\u03bd \u03b9\u03b1\u03c4\u03c1\u03b9\u03ba\u03ce\u03bd \u03c6\u03b1\u03ba\u03ad\u03bb\u03c9\u03bd <strong>65 \u03b1\u03c4\u03cc\u03bc\u03c9\u03bd \u03bc\u03b5 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ac \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03b9\u03c9\u03bc\u03ad\u03bd\u03bf \u03a3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra<\/strong>, \u03c4\u03b1 \u03bf\u03c0\u03bf\u03af\u03b1 \u03b5\u03af\u03c7\u03b1\u03bd \u03b1\u03be\u03b9\u03bf\u03bb\u03bf\u03b3\u03b7\u03b8\u03b5\u03af \u03c3\u03c4\u03b7\u03bd \u03b5\u03be\u03b5\u03b9\u03b4\u03b9\u03ba\u03b5\u03c5\u03bc\u03ad\u03bd\u03b7 Kleefstra Clinic \u03c4\u03bf\u03c5 Boston Children\u2019s Hospital.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03bc\u03ad\u03c3\u03b7 \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03c4\u03c9\u03bd \u03c3\u03c5\u03bc\u03bc\u03b5\u03c4\u03b5\u03c7\u03cc\u03bd\u03c4\u03c9\u03bd \u03ae\u03c4\u03b1\u03bd 9,3 \u03ad\u03c4\u03b7, \u03bc\u03b5 \u03b7\u03bb\u03b9\u03ba\u03af\u03b5\u03c2 \u03b1\u03c0\u03cc \u03c0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 10 \u03bc\u03b7\u03bd\u03ce\u03bd \u03ad\u03c9\u03c2 35 \u03b5\u03c4\u03ce\u03bd. \u03a3\u03c4\u03b7 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03c3\u03c5\u03bc\u03bc\u03b5\u03c4\u03b5\u03af\u03c7\u03b1\u03bd 40 \u03b3\u03c5\u03bd\u03b1\u03af\u03ba\u03b5\u03c2 \u03ba\u03b1\u03b9 \u03ba\u03bf\u03c1\u03af\u03c4\u03c3\u03b9\u03b1 \u03ba\u03b1\u03b9 25 \u03ac\u03bd\u03b4\u03c1\u03b5\u03c2 \u03ba\u03b1\u03b9 \u03b1\u03b3\u03cc\u03c1\u03b9\u03b1. \u03a0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 \u03c4\u03b1 \u03b4\u03cd\u03bf \u03c4\u03c1\u03af\u03c4\u03b1 \u03c4\u03bf\u03c5 \u03b4\u03b5\u03af\u03b3\u03bc\u03b1\u03c4\u03bf\u03c2 \u03ae\u03c4\u03b1\u03bd \u03b7\u03bb\u03b9\u03ba\u03af\u03b1\u03c2 \u03ad\u03c9\u03c2 11 \u03b5\u03c4\u03ce\u03bd.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u03a4\u03c1\u03b5\u03b9\u03c2 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03bf\u03bc\u03ac\u03b4\u03b5\u03c2<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u039f\u03b9 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ad\u03c2 \u03c7\u03ce\u03c1\u03b9\u03c3\u03b1\u03bd \u03c4\u03bf\u03c5\u03c2 \u03c3\u03c5\u03bc\u03bc\u03b5\u03c4\u03ad\u03c7\u03bf\u03bd\u03c4\u03b5\u03c2 \u03c3\u03b5 \u03c4\u03c1\u03b5\u03b9\u03c2 \u03bf\u03bc\u03ac\u03b4\u03b5\u03c2 \u03b1\u03bd\u03ac\u03bb\u03bf\u03b3\u03b1 \u03bc\u03b5 \u03c4\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b1\u03b9\u03c4\u03af\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf <strong>54%<\/strong>, \u03b4\u03b7\u03bb\u03b1\u03b4\u03ae 35 \u03ac\u03c4\u03bf\u03bc\u03b1, \u03b5\u03af\u03c7\u03b5 \u03c0\u03b1\u03b8\u03bf\u03b3\u03cc\u03bd\u03bf \u03ae \u03c0\u03b9\u03b8\u03b1\u03bd\u03ce\u03c2 \u03c0\u03b1\u03b8\u03bf\u03b3\u03cc\u03bd\u03bf sequence variant \u03c3\u03c4\u03bf EHMT1 (\u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b1\u03bb\u03bb\u03b1\u03b3\u03ae <strong>\u03bc\u03ad\u03c3\u03b1 \u03c3\u03c4\u03bf \u03af\u03b4\u03b9\u03bf \u03c4\u03bf \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf EHMT1<\/strong>)*.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf <strong>29%<\/strong>, \u03b4\u03b7\u03bb\u03b1\u03b4\u03ae 19 \u03ac\u03c4\u03bf\u03bc\u03b1, \u03b5\u03af\u03c7\u03b5 \u03bc\u03b9\u03ba\u03c1\u03ae \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae \u03c3\u03c4\u03b7\u03bd \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae 9q34, \u03bc\u03b9\u03ba\u03c1\u03cc\u03c4\u03b5\u03c1\u03b7 \u03b1\u03c0\u03cc 1 Mb.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf <strong>17%<\/strong>, \u03b4\u03b7\u03bb\u03b1\u03b4\u03ae 11 \u03ac\u03c4\u03bf\u03bc\u03b1, \u03b5\u03af\u03c7\u03b5 \u03bc\u03b5\u03b3\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b7 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae 9q34, \u03af\u03c3\u03b7 \u03ae \u03bc\u03b5\u03b3\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b7 \u03b1\u03c0\u03cc 1 Mb.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03c5\u03c4\u03cc\u03c2 \u03bf \u03b4\u03b9\u03b1\u03c7\u03c9\u03c1\u03b9\u03c3\u03bc\u03cc\u03c2 \u03b5\u03c0\u03ad\u03c4\u03c1\u03b5\u03c8\u03b5 \u03c3\u03c4\u03bf\u03c5\u03c2 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ad\u03c2 \u03bd\u03b1 \u03b5\u03be\u03b5\u03c4\u03ac\u03c3\u03bf\u03c5\u03bd \u03cc\u03c7\u03b9 \u03bc\u03cc\u03bd\u03bf \u03c0\u03bf\u03b9\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03b5\u03bc\u03c6\u03b1\u03bd\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c3\u03c4\u03bf Kleefstra, \u03b1\u03bb\u03bb\u03ac \u03ba\u03b1\u03b9 \u03b1\u03bd \u03bf\u03c1\u03b9\u03c3\u03bc\u03ad\u03bd\u03b1 \u03b1\u03c0\u03cc \u03b1\u03c5\u03c4\u03ac \u03b5\u03af\u03bd\u03b1\u03b9 \u03c3\u03c5\u03c7\u03bd\u03cc\u03c4\u03b5\u03c1\u03b1 \u03b1\u03bd\u03ac\u03bb\u03bf\u03b3\u03b1 \u03bc\u03b5 \u03c4\u03bf\u03bd \u03b3\u03bf\u03bd\u03cc\u03c4\u03c5\u03c0\u03bf.<\/p>\n\n\n\n<p class=\"is-style-info wp-block-paragraph\">*\u03a4\u03bf <strong>54%<\/strong>, \u03b4\u03b7\u03bb\u03b1\u03b4\u03ae 35 \u03ac\u03c4\u03bf\u03bc\u03b1, \u03b5\u03af\u03c7\u03b5 \u03bc\u03b9\u03b1 \u03c0\u03b1\u03b8\u03bf\u03b3\u03cc\u03bd\u03bf \u03ae \u03c0\u03b9\u03b8\u03b1\u03bd\u03ce\u03c2 \u03c0\u03b1\u03b8\u03bf\u03b3\u03cc\u03bd\u03bf \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b1\u03bb\u03bb\u03b1\u03b3\u03ae <strong>\u03bc\u03ad\u03c3\u03b1 \u03c3\u03c4\u03bf \u03af\u03b4\u03b9\u03bf \u03c4\u03bf \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf EHMT1<\/strong>. \u039c\u03b5 \u03b1\u03c0\u03bb\u03ac \u03bb\u03cc\u03b3\u03b9\u03b1, \u03c4\u03bf \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03c5\u03c0\u03ae\u03c1\u03c7\u03b5, \u03b1\u03bb\u03bb\u03ac \u03b7 \u03b1\u03bb\u03bb\u03b7\u03bb\u03bf\u03c5\u03c7\u03af\u03b1 \u03c4\u03bf\u03c5 DNA \u03c4\u03bf\u03c5 \u03b5\u03af\u03c7\u03b5 \u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9 \u03bc\u03b5 \u03c4\u03c1\u03cc\u03c0\u03bf \u03c0\u03bf\u03c5 \u03bc\u03c0\u03bf\u03c1\u03bf\u03cd\u03c3\u03b5 \u03bd\u03b1 \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03ac\u03be\u03b5\u03b9 \u03c4\u03b7 \u03c6\u03c5\u03c3\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ae \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c4\u03bf\u03c5. \u0391\u03c5\u03c4\u03cc \u03b4\u03b9\u03b1\u03c6\u03ad\u03c1\u03b5\u03b9 \u03b1\u03c0\u03cc \u03c4\u03b9\u03c2 \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2 \u03bc\u03b5 <strong>\u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae 9q34<\/strong>, \u03cc\u03c0\u03bf\u03c5 \u03bb\u03b5\u03af\u03c0\u03b5\u03b9 \u03ad\u03bd\u03b1 \u03bc\u03b5\u03b3\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03bf \u03c4\u03bc\u03ae\u03bc\u03b1 \u03c4\u03bf\u03c5 \u03c7\u03c1\u03c9\u03bc\u03bf\u03c3\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2 9 \u03c0\u03bf\u03c5 \u03c0\u03b5\u03c1\u03b9\u03bb\u03b1\u03bc\u03b2\u03ac\u03bd\u03b5\u03b9 \u03c4\u03bf EHMT1 \u03ba\u03b1\u03b9 \u03b5\u03bd\u03b4\u03b5\u03c7\u03bf\u03bc\u03ad\u03bd\u03c9\u03c2 \u03ba\u03b1\u03b9 \u03ac\u03bb\u03bb\u03b1 \u03b3\u03b5\u03b9\u03c4\u03bf\u03bd\u03b9\u03ba\u03ac \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03b1.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u03a4\u03b9 \u03ba\u03b1\u03c4\u03b1\u03b3\u03c1\u03ac\u03c6\u03b7\u03ba\u03b5 \u03c3\u03c4\u03bf\u03c5\u03c2 65 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u038c\u03c0\u03c9\u03c2 \u03ae\u03c4\u03b1\u03bd \u03b1\u03bd\u03b1\u03bc\u03b5\u03bd\u03cc\u03bc\u03b5\u03bd\u03bf, \u03bf\u03b9 \u03bd\u03b5\u03c5\u03c1\u03bf\u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ad\u03c2 \u03b5\u03ba\u03b4\u03b7\u03bb\u03ce\u03c3\u03b5\u03b9\u03c2 \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03bf\u03cd\u03c3\u03b1\u03bd \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03bc\u03ad\u03c1\u03bf\u03c2 \u03c4\u03b7\u03c2 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae\u03c2 \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7 \u03ae \u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03b1\u03c0\u03b7\u03c1\u03af\u03b1 \u03b5\u03af\u03c7\u03b5 \u03ba\u03b1\u03c4\u03b1\u03b3\u03c1\u03b1\u03c6\u03b5\u03af \u03c3\u03c4\u03bf <strong>77%<\/strong> \u03c4\u03c9\u03bd \u03c3\u03c5\u03bc\u03bc\u03b5\u03c4\u03b5\u03c7\u03cc\u03bd\u03c4\u03c9\u03bd, \u03b5\u03bd\u03ce \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03b1\u03c7\u03ae \u03b1\u03c5\u03c4\u03b9\u03c3\u03c4\u03b9\u03ba\u03bf\u03cd \u03c6\u03ac\u03c3\u03bc\u03b1\u03c4\u03bf\u03c2 \u03c3\u03c4\u03bf <strong>38%<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0395\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1 \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03b6\u03b5 \u03c4\u03bf <strong>15%<\/strong>, \u03b5\u03bd\u03ce \u03ad\u03bd\u03b1 \u03bc\u03b9\u03ba\u03c1\u03cc\u03c4\u03b5\u03c1\u03bf \u03b1\u03bb\u03bb\u03ac \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03c0\u03bf\u03c3\u03bf\u03c3\u03c4\u03cc, \u03c0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 <strong>9%<\/strong>, \u03b5\u03af\u03c7\u03b5 \u03b1\u03bd\u03b8\u03b5\u03ba\u03c4\u03b9\u03ba\u03ae \u03b5\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0395\u03ba\u03c4\u03cc\u03c2 \u03b1\u03c0\u03cc \u03c4\u03b1 \u03bd\u03b5\u03c5\u03c1\u03bf\u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ac \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac, \u03ba\u03b1\u03c4\u03b1\u03b3\u03c1\u03ac\u03c6\u03b7\u03ba\u03b1\u03bd \u03c3\u03c5\u03c7\u03bd\u03ac \u03c0\u03c1\u03bf\u03b2\u03bb\u03ae\u03bc\u03b1\u03c4\u03b1 \u03ba\u03b1\u03b9 \u03b1\u03c0\u03cc \u03ac\u03bb\u03bb\u03b1 \u03c3\u03c5\u03c3\u03c4\u03ae\u03bc\u03b1\u03c4\u03b1. <strong>\u0394\u03bf\u03bc\u03b9\u03ba\u03ad\u03c2 \u03ba\u03b1\u03c1\u03b4\u03b9\u03b1\u03ba\u03ad\u03c2 \u03b1\u03bd\u03c9\u03bc\u03b1\u03bb\u03af\u03b5\u03c2<\/strong> \u03c5\u03c0\u03ae\u03c1\u03c7\u03b1\u03bd \u03c3\u03c4\u03bf 40%, <strong>\u03b1\u03c0\u03ce\u03bb\u03b5\u03b9\u03b1 \u03b1\u03ba\u03bf\u03ae\u03c2<\/strong> \u03c3\u03c4\u03bf 32% \u03ba\u03b1\u03b9 <strong>\u03b4\u03c5\u03c3\u03ba\u03bf\u03b9\u03bb\u03b9\u03cc\u03c4\u03b7\u03c4\u03b1<\/strong> \u03c3\u03c4\u03bf 31%. \u0397 \u03c5\u03c0\u03bf\u03c4\u03bf\u03bd\u03af\u03b1 \u03b5\u03af\u03c7\u03b5 \u03ba\u03b1\u03c4\u03b1\u03b3\u03c1\u03b1\u03c6\u03b5\u03af \u03c3\u03c4\u03bf 78% \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03bf\u03bb\u03b9\u03ba\u03bf\u03cd \u03b4\u03b5\u03af\u03b3\u03bc\u03b1\u03c4\u03bf\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03b1 \u03c0\u03bf\u03c3\u03bf\u03c3\u03c4\u03ac \u03b1\u03c5\u03c4\u03ac \u03b5\u03af\u03bd\u03b1\u03b9 \u03c0\u03bf\u03bb\u03cd \u03c7\u03c1\u03ae\u03c3\u03b9\u03bc\u03b1 \u03b3\u03b9\u03b1 \u03c4\u03b7\u03bd \u03ba\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b7 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03ae \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5, \u03b1\u03bb\u03bb\u03ac \u03c7\u03c1\u03b5\u03b9\u03ac\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c0\u03c1\u03bf\u03c3\u03b5\u03ba\u03c4\u03b9\u03ba\u03ae \u03b5\u03c1\u03bc\u03b7\u03bd\u03b5\u03af\u03b1. \u03a0\u03c1\u03cc\u03ba\u03b5\u03b9\u03c4\u03b1\u03b9 \u03b3\u03b9\u03b1 \u03c3\u03c4\u03bf\u03b9\u03c7\u03b5\u03af\u03b1 \u03b1\u03c0\u03cc \u03c4\u03bf\u03c5\u03c2 \u03b9\u03b1\u03c4\u03c1\u03b9\u03ba\u03bf\u03cd\u03c2 \u03c6\u03b1\u03ba\u03ad\u03bb\u03bf\u03c5\u03c2 65 \u03b1\u03c4\u03cc\u03bc\u03c9\u03bd \u03c0\u03bf\u03c5 \u03c0\u03b1\u03c1\u03b1\u03ba\u03bf\u03bb\u03bf\u03c5\u03b8\u03ae\u03b8\u03b7\u03ba\u03b1\u03bd \u03c3\u03b5 \u03ad\u03bd\u03b1 \u03b5\u03be\u03b5\u03b9\u03b4\u03b9\u03ba\u03b5\u03c5\u03bc\u03ad\u03bd\u03bf \u03ba\u03ad\u03bd\u03c4\u03c1\u03bf \u03ba\u03b1\u03b9 \u03cc\u03c7\u03b9 \u03b3\u03b9\u03b1 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03b5\u03c0\u03b9\u03c0\u03bf\u03bb\u03b1\u03c3\u03bc\u03bf\u03cd \u03c3\u03c4\u03bf\u03bd \u03c3\u03c5\u03bd\u03bf\u03bb\u03b9\u03ba\u03cc \u03c0\u03bb\u03b7\u03b8\u03c5\u03c3\u03bc\u03cc \u03c4\u03c9\u03bd \u03b1\u03c4\u03cc\u03bc\u03c9\u03bd \u03bc\u03b5 Kleefstra.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u039c\u03b9\u03b1 \u03c5\u03c0\u03bf\u03bf\u03bc\u03ac\u03b4\u03b1 \u03bc\u03b5 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc\u03c4\u03b5\u03c1\u03b7 \u03ba\u03b9\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03b4\u03c5\u03c3\u03ba\u03bf\u03bb\u03af\u03b1<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u0388\u03bd\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c0\u03bf\u03c5 \u03b1\u03bd\u03ad\u03b4\u03b5\u03b9\u03be\u03b5 \u03b7 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03ae\u03c4\u03b1\u03bd \u03b7 \u03cd\u03c0\u03b1\u03c1\u03be\u03b7 \u03bc\u03b9\u03b1\u03c2 \u03c5\u03c0\u03bf\u03bf\u03bc\u03ac\u03b4\u03b1\u03c2 \u03b1\u03c4\u03cc\u03bc\u03c9\u03bd \u03bc\u03b5 <strong>\u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae \u03ba\u03b9\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03b4\u03c5\u03c3\u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039f\u03b9 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ad\u03c2 \u03cc\u03c1\u03b9\u03c3\u03b1\u03bd \u03c9\u03c2 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae \u03ba\u03b9\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03b4\u03c5\u03c3\u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c4\u03b7\u03bd \u03c0\u03b5\u03c1\u03af\u03c0\u03c4\u03c9\u03c3\u03b7 \u03b5\u03bd\u03cc\u03c2 \u03c0\u03b1\u03b9\u03b4\u03b9\u03bf\u03cd \u03b7\u03bb\u03b9\u03ba\u03af\u03b1\u03c2 \u03c4\u03bf\u03c5\u03bb\u03ac\u03c7\u03b9\u03c3\u03c4\u03bf\u03bd \u03b4\u03cd\u03bf \u03b5\u03c4\u03ce\u03bd \u03c0\u03bf\u03c5 \u03b4\u03b5\u03bd \u03b5\u03af\u03c7\u03b5 \u03b1\u03ba\u03cc\u03bc\u03b7 \u03b1\u03c0\u03bf\u03ba\u03c4\u03ae\u03c3\u03b5\u03b9 \u03b1\u03bd\u03b5\u03be\u03ac\u03c1\u03c4\u03b7\u03c4\u03b7 \u03b2\u03ac\u03b4\u03b9\u03c3\u03b7 \u03ae \u03b5\u03af\u03c7\u03b5 \u03b1\u03c1\u03c7\u03af\u03c3\u03b5\u03b9 \u03bd\u03b1 \u03c0\u03b5\u03c1\u03c0\u03b1\u03c4\u03ac \u03b1\u03bd\u03b5\u03be\u03ac\u03c1\u03c4\u03b7\u03c4\u03b1 \u03c3\u03b5 \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03c4\u03c1\u03b9\u03ce\u03bd \u03b5\u03c4\u03ce\u03bd \u03ae \u03b1\u03c1\u03b3\u03cc\u03c4\u03b5\u03c1\u03b1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039c\u03b5 \u03b1\u03c5\u03c4\u03cc\u03bd \u03c4\u03bf\u03bd \u03bf\u03c1\u03b9\u03c3\u03bc\u03cc, <strong>15 \u03b1\u03c0\u03cc \u03c4\u03b1 62 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03b3\u03b9\u03b1 \u03c4\u03b1 \u03bf\u03c0\u03bf\u03af\u03b1 \u03c5\u03c0\u03ae\u03c1\u03c7\u03b1\u03bd \u03ba\u03b1\u03c4\u03ac\u03bb\u03bb\u03b7\u03bb\u03b1 \u03b4\u03b5\u03b4\u03bf\u03bc\u03ad\u03bd\u03b1, \u03c0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 24%, \u03b1\u03bd\u03ae\u03ba\u03b1\u03bd \u03c3\u03b5 \u03b1\u03c5\u03c4\u03ae \u03c4\u03b7\u03bd \u03bf\u03bc\u03ac\u03b4\u03b1<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0395\u03c0\u03c4\u03ac \u03c0\u03b1\u03b9\u03b4\u03b9\u03ac \u03b7\u03bb\u03b9\u03ba\u03af\u03b1\u03c2 \u03b4\u03cd\u03bf \u03b5\u03c4\u03ce\u03bd \u03ae \u03bc\u03b5\u03b3\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b1 \u03b4\u03b5\u03bd \u03c0\u03b5\u03c1\u03c0\u03b1\u03c4\u03bf\u03cd\u03c3\u03b1\u03bd \u03b1\u03ba\u03cc\u03bc\u03b7 \u03b1\u03bd\u03b5\u03be\u03ac\u03c1\u03c4\u03b7\u03c4\u03b1, \u03b5\u03bd\u03ce \u03ac\u03bb\u03bb\u03b1 \u03bf\u03ba\u03c4\u03ce \u03b5\u03af\u03c7\u03b1\u03bd \u03b1\u03c0\u03bf\u03ba\u03c4\u03ae\u03c3\u03b5\u03b9 \u03b1\u03bd\u03b5\u03be\u03ac\u03c1\u03c4\u03b7\u03c4\u03b7 \u03b2\u03ac\u03b4\u03b9\u03c3\u03b7 \u03bc\u03b5\u03c4\u03ac \u03c4\u03b7\u03bd \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03c4\u03c9\u03bd \u03c4\u03c1\u03b9\u03ce\u03bd \u03b5\u03c4\u03ce\u03bd. \u03a3\u03c4\u03b7 \u03b4\u03b5\u03cd\u03c4\u03b5\u03c1\u03b7 \u03b1\u03c5\u03c4\u03ae \u03bf\u03bc\u03ac\u03b4\u03b1 \u03b7 \u03bc\u03ad\u03c3\u03b7 \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03b1\u03bd\u03b5\u03be\u03ac\u03c1\u03c4\u03b7\u03c4\u03b7\u03c2 \u03b2\u03ac\u03b4\u03b9\u03c3\u03b7\u03c2 \u03ae\u03c4\u03b1\u03bd \u03c0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 4,4 \u03ad\u03c4\u03b7 \u03ba\u03b1\u03b9 \u03c3\u03b5 \u03bc\u03af\u03b1 \u03c0\u03b5\u03c1\u03af\u03c0\u03c4\u03c9\u03c3\u03b7 \u03ad\u03c6\u03c4\u03b1\u03bd\u03b5 \u03c4\u03b1 9 \u03ad\u03c4\u03b7.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf \u03b5\u03cd\u03c1\u03b7\u03bc\u03b1 \u03b1\u03c5\u03c4\u03cc \u03b5\u03af\u03bd\u03b1\u03b9 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03b3\u03b9\u03b1\u03c4\u03af \u03b1\u03bd\u03b1\u03b4\u03b5\u03b9\u03ba\u03bd\u03cd\u03b5\u03b9 \u03bc\u03b5\u03b3\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b7 \u03c0\u03bf\u03b9\u03ba\u03b9\u03bb\u03bf\u03bc\u03bf\u03c1\u03c6\u03af\u03b1 \u03c3\u03c4\u03b7\u03bd \u03ba\u03b9\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03b5\u03be\u03ad\u03bb\u03b9\u03be\u03b7 \u03b1\u03c0\u03cc \u03b1\u03c5\u03c4\u03ae \u03c0\u03bf\u03c5 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03b3\u03af\u03bd\u03b5\u03c4\u03b1\u03b9 \u03b1\u03bd\u03c4\u03b9\u03bb\u03b7\u03c0\u03c4\u03ae \u03cc\u03c4\u03b1\u03bd \u03c4\u03bf \u03a3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03ac\u03c6\u03b5\u03c4\u03b1\u03b9 \u03bc\u03cc\u03bd\u03bf \u03bc\u03ad\u03c3\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b1 \u03c3\u03c5\u03c7\u03bd\u03cc\u03c4\u03b5\u03c1\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c4\u03bf\u03c5.<\/p>\n\n\n\n<div class=\"wp-block-group study-significant\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<h3 class=\"wp-block-heading\">\u03a4\u03bf \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc\u03c4\u03b5\u03c1\u03bf \u03b5\u03cd\u03c1\u03b7\u03bc\u03b1, \u03b3\u03bf\u03bd\u03cc\u03c4\u03c5\u03c0\u03bf\u03c2 \u03ba\u03b1\u03b9 \u03c6\u03b1\u03b9\u03bd\u03cc\u03c4\u03c5\u03c0\u03bf\u03c2<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u038a\u03c3\u03c9\u03c2 \u03c4\u03bf \u03c0\u03b9\u03bf \u03bf\u03c5\u03c3\u03b9\u03b1\u03c3\u03c4\u03b9\u03ba\u03cc \u03c3\u03c4\u03bf\u03b9\u03c7\u03b5\u03af\u03bf \u03c4\u03b7\u03c2 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7\u03c2 \u03ae\u03c4\u03b1\u03bd \u03b7 \u03c3\u03cd\u03b3\u03ba\u03c1\u03b9\u03c3\u03b7 \u03c4\u03c9\u03bd \u03b1\u03c4\u03cc\u03bc\u03c9\u03bd \u03bc\u03b5 <strong>9q34 deletion<\/strong> (\u03ac\u03c4\u03bf\u03bc\u03b1 \u03c0\u03bf\u03c5 \u03bb\u03b5\u03af\u03c0\u03b5\u03b9 \u03c4\u03bc\u03ae\u03bc\u03b1 \u03c4\u03bf\u03c5 \u03c7\u03c1\u03c9\u03bc\u03bf\u03c3\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2 \u03c0\u03bf\u03c5 \u03c0\u03b5\u03c1\u03b9\u03bb\u03b1\u03bc\u03b2\u03ac\u03bd\u03b5\u03b9 \u03c4\u03bf EHMT1) \u03bc\u03b5 \u03b5\u03ba\u03b5\u03af\u03bd\u03b1 \u03c0\u03bf\u03c5 \u03b5\u03af\u03c7\u03b1\u03bd <strong>sequence variant \u03c3\u03c4\u03bf EHMT1<\/strong> (\u03ac\u03c4\u03bf\u03bc\u03b1 \u03c0\u03bf\u03c5 \u03ad\u03c7\u03bf\u03c5\u03bd \u03bc\u03b9\u03b1 <strong>\u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ae \u03bc\u03ad\u03c3\u03b1 \u03c3\u03c4\u03bf \u03af\u03b4\u03b9\u03bf \u03c4\u03bf \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf EHMT1<\/strong>, \u03b4\u03b7\u03bb\u03b1\u03b4\u03ae \u03bc\u03b9\u03b1 \u03bc\u03b9\u03ba\u03c1\u03cc\u03c4\u03b5\u03c1\u03b7 \u03b1\u03bb\u03bb\u03b1\u03b3\u03ae \u03c3\u03c4\u03b7\u03bd \u03b1\u03bb\u03bb\u03b7\u03bb\u03bf\u03c5\u03c7\u03af\u03b1 \u03c4\u03bf\u03c5 DNA \u03c0\u03bf\u03c5 \u03b5\u03c0\u03b7\u03c1\u03b5\u03ac\u03b6\u03b5\u03b9 \u03c4\u03b7 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u038c\u03c4\u03b1\u03bd \u03bf\u03b9 \u03b4\u03cd\u03bf \u03bf\u03bc\u03ac\u03b4\u03b5\u03c2 \u03c4\u03c9\u03bd deletions \u03c3\u03c5\u03bd\u03b4\u03c5\u03ac\u03c3\u03c4\u03b7\u03ba\u03b1\u03bd, \u03bf\u03b9 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03ad\u03c2 \u03ae\u03c4\u03b1\u03bd \u03b1\u03be\u03b9\u03bf\u03c3\u03b7\u03bc\u03b5\u03af\u03c9\u03c4\u03b5\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7 \u03ae \u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03b1\u03c0\u03b7\u03c1\u03af\u03b1 \u03b5\u03af\u03c7\u03b5 \u03ba\u03b1\u03c4\u03b1\u03b3\u03c1\u03b1\u03c6\u03b5\u03af \u03c3\u03c4\u03bf <strong>90% \u03c4\u03c9\u03bd \u03b1\u03c4\u03cc\u03bc\u03c9\u03bd \u03bc\u03b5 deletion<\/strong>, \u03ad\u03bd\u03b1\u03bd\u03c4\u03b9 <strong>66% \u03c3\u03c4\u03b1 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03bc\u03b5 sequence variants<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae \u03ba\u03b9\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03b4\u03c5\u03c3\u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03b6\u03b5 \u03c4\u03bf <strong>41% \u03c4\u03b7\u03c2 \u03bf\u03bc\u03ac\u03b4\u03b1\u03c2 \u03c4\u03c9\u03bd deletions<\/strong>, \u03ad\u03bd\u03b1\u03bd\u03c4\u03b9 <strong>11% \u03c4\u03b7\u03c2 \u03bf\u03bc\u03ac\u03b4\u03b1\u03c2 \u03c4\u03c9\u03bd sequence variants<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03ac \u03ae\u03c4\u03b1\u03bd \u03b1\u03ba\u03cc\u03bc\u03b7 \u03bc\u03b5\u03b3\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b7 \u03b3\u03b9\u03b1 \u03c4\u03b7\u03bd \u03b5\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1. \u0395\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1 \u03b5\u03af\u03c7\u03b5 \u03c4\u03bf <strong>30% \u03c4\u03c9\u03bd \u03b1\u03c4\u03cc\u03bc\u03c9\u03bd \u03bc\u03b5 deletion<\/strong>, \u03b5\u03bd\u03ce \u03c3\u03c4\u03b7\u03bd \u03bf\u03bc\u03ac\u03b4\u03b1 \u03c4\u03c9\u03bd sequence variants \u03c4\u03bf \u03b1\u03bd\u03c4\u03af\u03c3\u03c4\u03bf\u03b9\u03c7\u03bf \u03c0\u03bf\u03c3\u03bf\u03c3\u03c4\u03cc \u03ae\u03c4\u03b1\u03bd \u03bc\u03cc\u03bb\u03b9\u03c2 <strong>3%<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03bd\u03c4\u03af\u03c3\u03c4\u03bf\u03b9\u03c7\u03b1, <strong>cortical visual impairment<\/strong>, \u03b4\u03b7\u03bb\u03b1\u03b4\u03ae \u03c6\u03bb\u03bf\u03b9\u03ce\u03b4\u03b7\u03c2 \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03b1\u03c7\u03ae \u03c4\u03b7\u03c2 \u03cc\u03c1\u03b1\u03c3\u03b7\u03c2, \u03b5\u03af\u03c7\u03b5 \u03ba\u03b1\u03c4\u03b1\u03b3\u03c1\u03b1\u03c6\u03b5\u03af \u03c3\u03c4\u03bf <strong>23% \u03c4\u03b7\u03c2 \u03bf\u03bc\u03ac\u03b4\u03b1\u03c2 \u03bc\u03b5 deletion<\/strong>, \u03b1\u03bb\u03bb\u03ac \u03c3\u03b5 \u03ba\u03b1\u03bd\u03ad\u03bd\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b1 35 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03bc\u03b5 sequence variant.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039a\u03b1\u03b9 \u03bf\u03b9 \u03c4\u03ad\u03c3\u03c3\u03b5\u03c1\u03b9\u03c2 \u03b1\u03c5\u03c4\u03ad\u03c2 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03ad\u03c2 \u03ae\u03c4\u03b1\u03bd \u03c3\u03c4\u03b1\u03c4\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ad\u03c2.<\/p>\n<\/div><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u039f\u03b9 \u03bc\u03b5\u03b3\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b5\u03c2 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ad\u03c2 \u03c6\u03b1\u03af\u03bd\u03b5\u03c4\u03b1\u03b9 \u03bd\u03b1 \u03c3\u03c5\u03bd\u03b4\u03ad\u03bf\u03bd\u03c4\u03b1\u03b9 \u03bc\u03b5 \u03b2\u03b1\u03c1\u03cd\u03c4\u03b5\u03c1\u03b7 \u03ba\u03b9\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u038c\u03c4\u03b1\u03bd \u03bf\u03b9 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ad\u03c2 \u03b5\u03be\u03ad\u03c4\u03b1\u03c3\u03b1\u03bd \u03be\u03b5\u03c7\u03c9\u03c1\u03b9\u03c3\u03c4\u03ac \u03c4\u03b9\u03c2 \u03c4\u03c1\u03b5\u03b9\u03c2 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03bf\u03bc\u03ac\u03b4\u03b5\u03c2, \u03b7 \u03bf\u03bc\u03ac\u03b4\u03b1 \u03c4\u03c9\u03bd <strong>\u03bc\u03b5\u03b3\u03ac\u03bb\u03c9\u03bd deletions, \u03af\u03c3\u03c9\u03bd \u03ae \u03bc\u03b5\u03b3\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03c9\u03bd \u03b1\u03c0\u03cc 1 Mb<\/strong>, \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03c3\u03b5 \u03bf\u03c1\u03b9\u03c3\u03bc\u03ad\u03bd\u03b5\u03c2 \u03b9\u03b4\u03b9\u03b1\u03af\u03c4\u03b5\u03c1\u03b1 \u03ad\u03bd\u03c4\u03bf\u03bd\u03b5\u03c2 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03ad\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a3\u03c4\u03b7 \u03bc\u03b9\u03ba\u03c1\u03ae \u03b1\u03c5\u03c4\u03ae \u03bf\u03bc\u03ac\u03b4\u03b1 \u03c4\u03c9\u03bd 11 \u03b1\u03c4\u03cc\u03bc\u03c9\u03bd, \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae \u03ba\u03b9\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03b4\u03c5\u03c3\u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03b5\u03af\u03c7\u03b5 \u03ba\u03b1\u03c4\u03b1\u03b3\u03c1\u03b1\u03c6\u03b5\u03af \u03c3\u03c4\u03bf <strong>75%<\/strong>, \u03b5\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1 \u03c3\u03c4\u03bf <strong>36%<\/strong> \u03ba\u03b1\u03b9 cortical visual impairment \u03c3\u03c4\u03bf <strong>55%<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039c\u03cc\u03bd\u03bf \u03c4\u03bf 30% \u03b5\u03af\u03c7\u03b5 \u03b1\u03c0\u03bf\u03ba\u03c4\u03ae\u03c3\u03b5\u03b9 \u03b1\u03bd\u03b5\u03be\u03ac\u03c1\u03c4\u03b7\u03c4\u03b7 \u03b2\u03ac\u03b4\u03b9\u03c3\u03b7 \u03ba\u03b1\u03c4\u03ac \u03c4\u03bf\u03bd \u03c7\u03c1\u03cc\u03bd\u03bf \u03c4\u03b7\u03c2 \u03b1\u03be\u03b9\u03bf\u03bb\u03cc\u03b3\u03b7\u03c3\u03b7\u03c2, \u03c3\u03b5 \u03c3\u03cd\u03b3\u03ba\u03c1\u03b9\u03c3\u03b7 \u03bc\u03b5 \u03c4\u03bf 100% \u03c4\u03b7\u03c2 \u03bf\u03bc\u03ac\u03b4\u03b1\u03c2 \u03bc\u03b5 sequence variants.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039f\u03b9 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ad\u03c2 \u03b5\u03be\u03ad\u03c4\u03b1\u03c3\u03b1\u03bd \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03c4\u03b7 \u03c3\u03c7\u03ad\u03c3\u03b7 \u03b1\u03bd\u03ac\u03bc\u03b5\u03c3\u03b1 \u03c3\u03c4\u03bf \u03bc\u03ad\u03b3\u03b5\u03b8\u03bf\u03c2 \u03c4\u03b7\u03c2 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae\u03c2 \u03ba\u03b1\u03b9 \u03c4\u03b7\u03bd \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03c4\u03b7\u03c2 \u03b1\u03bd\u03b5\u03be\u03ac\u03c1\u03c4\u03b7\u03c4\u03b7\u03c2 \u03b2\u03ac\u03b4\u03b9\u03c3\u03b7\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a3\u03c4\u03b1 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03bc\u03b5 deletion \u03b3\u03b9\u03b1 \u03c4\u03b1 \u03bf\u03c0\u03bf\u03af\u03b1 \u03c5\u03c0\u03ae\u03c1\u03c7\u03b1\u03bd \u03c4\u03b1 \u03b1\u03c0\u03b1\u03c1\u03b1\u03af\u03c4\u03b7\u03c4\u03b1 \u03b4\u03b5\u03b4\u03bf\u03bc\u03ad\u03bd\u03b1, \u03cc\u03c3\u03bf \u03c0\u03b5\u03c1\u03b9\u03c3\u03c3\u03cc\u03c4\u03b5\u03c1\u03b1 \u03b3\u03bd\u03c9\u03c3\u03c4\u03ac \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03b1 \u03c0\u03b5\u03c1\u03b9\u03bb\u03b1\u03bc\u03b2\u03ac\u03bd\u03bf\u03bd\u03c4\u03b1\u03bd \u03c3\u03c4\u03b7 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03bc\u03bc\u03ad\u03bd\u03b7 \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae, \u03c4\u03cc\u03c3\u03bf \u03b1\u03c1\u03b3\u03cc\u03c4\u03b5\u03c1\u03b1 \u03ad\u03c4\u03b5\u03b9\u03bd\u03b5 \u03bd\u03b1 \u03b5\u03c0\u03b9\u03c4\u03c5\u03b3\u03c7\u03ac\u03bd\u03b5\u03c4\u03b1\u03b9 \u03b7 \u03b1\u03bd\u03b5\u03be\u03ac\u03c1\u03c4\u03b7\u03c4\u03b7 \u03b2\u03ac\u03b4\u03b9\u03c3\u03b7.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf \u03b5\u03cd\u03c1\u03b7\u03bc\u03b1 \u03b1\u03c5\u03c4\u03cc \u03b5\u03bd\u03b9\u03c3\u03c7\u03cd\u03b5\u03b9 \u03c4\u03b7\u03bd \u03b9\u03b4\u03ad\u03b1 \u03cc\u03c4\u03b9 \u03c3\u03c4\u03b1 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03bc\u03b5 \u03bc\u03b5\u03b3\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b5\u03c2 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ad\u03c2 \u03b7 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03b5\u03c0\u03b7\u03c1\u03b5\u03ac\u03b6\u03b5\u03c4\u03b1\u03b9 \u03cc\u03c7\u03b9 \u03bc\u03cc\u03bd\u03bf \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u03b1\u03c0\u03ce\u03bb\u03b5\u03b9\u03b1 \u03c4\u03bf\u03c5 <strong>EHMT1<\/strong>, \u03b1\u03bb\u03bb\u03ac \u03ba\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u03c4\u03b1\u03c5\u03c4\u03cc\u03c7\u03c1\u03bf\u03bd\u03b7 \u03b1\u03c0\u03ce\u03bb\u03b5\u03b9\u03b1 \u03b3\u03b5\u03b9\u03c4\u03bf\u03bd\u03b9\u03ba\u03ce\u03bd \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03c9\u03bd.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u0391\u03c5\u03c4\u03cc \u03b4\u03b5\u03bd \u03c3\u03b7\u03bc\u03b1\u03af\u03bd\u03b5\u03b9 \u03cc\u03c4\u03b9 \u03bf \u03b3\u03bf\u03bd\u03cc\u03c4\u03c5\u03c0\u03bf\u03c2 \u03c0\u03c1\u03bf\u03b2\u03bb\u03ad\u03c0\u03b5\u03b9 \u03c4\u03bf \u03bc\u03ad\u03bb\u03bb\u03bf\u03bd \u03b5\u03bd\u03cc\u03c2 \u03c0\u03b1\u03b9\u03b4\u03b9\u03bf\u03cd<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03b1 \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03ad\u03c3\u03bc\u03b1\u03c4\u03b1 \u03b1\u03c5\u03c4\u03ac \u03ad\u03c7\u03bf\u03c5\u03bd \u03bc\u03b5\u03b3\u03ac\u03bb\u03b7 \u03b5\u03c0\u03b9\u03c3\u03c4\u03b7\u03bc\u03bf\u03bd\u03b9\u03ba\u03ae \u03c3\u03b7\u03bc\u03b1\u03c3\u03af\u03b1, \u03b1\u03bb\u03bb\u03ac \u03b4\u03b5\u03bd \u03c0\u03c1\u03ad\u03c0\u03b5\u03b9 \u03bd\u03b1 \u03c7\u03c1\u03b7\u03c3\u03b9\u03bc\u03bf\u03c0\u03bf\u03b9\u03b7\u03b8\u03bf\u03cd\u03bd \u03c9\u03c2 \u03b1\u03c4\u03bf\u03bc\u03b9\u03ba\u03ae \u03c0\u03c1\u03cc\u03b3\u03bd\u03c9\u03c3\u03b7.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0388\u03bd\u03b1 \u03c0\u03b1\u03b9\u03b4\u03af \u03bc\u03b5 deletion \u03b4\u03b5\u03bd \u03b5\u03af\u03bd\u03b1\u03b9 \u03b2\u03ad\u03b2\u03b1\u03b9\u03bf \u03cc\u03c4\u03b9 \u03b8\u03b1 \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03b9\u03ac\u03c3\u03b5\u03b9 \u03b5\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1, \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae \u03ba\u03b9\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03b4\u03c5\u03c3\u03ba\u03bf\u03bb\u03af\u03b1 \u03ae cortical visual impairment. \u0391\u03bd\u03c4\u03af\u03c3\u03c4\u03bf\u03b9\u03c7\u03b1, \u03ad\u03bd\u03b1 sequence variant \u03b4\u03b5\u03bd \u03b5\u03b3\u03b3\u03c5\u03ac\u03c4\u03b1\u03b9 \u03b7\u03c0\u03b9\u03cc\u03c4\u03b5\u03c1\u03b7 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039f\u03b9 \u03c3\u03c5\u03c3\u03c7\u03b5\u03c4\u03af\u03c3\u03b5\u03b9\u03c2 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03ac\u03c6\u03bf\u03c5\u03bd <strong>\u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03ad\u03c2 \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03bf\u03bc\u03ac\u03b4\u03c9\u03bd<\/strong> \u03ba\u03b1\u03b9 \u03cc\u03c7\u03b9 \u03c4\u03b7\u03bd \u03c0\u03bf\u03c1\u03b5\u03af\u03b1 \u03b5\u03bd\u03cc\u03c2 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03bf\u03c5 \u03b1\u03c4\u03cc\u03bc\u03bf\u03c5.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03c5\u03c4\u03cc \u03b5\u03af\u03bd\u03b1\u03b9 \u03b9\u03b4\u03b9\u03b1\u03af\u03c4\u03b5\u03c1\u03b1 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03c3\u03b5 \u03ad\u03bd\u03b1 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf \u03bc\u03b5 \u03c4\u03cc\u03c3\u03bf \u03bc\u03b5\u03b3\u03ac\u03bb\u03b7 \u03c6\u03b1\u03b9\u03bd\u03bf\u03c4\u03c5\u03c0\u03b9\u03ba\u03ae \u03c0\u03bf\u03b9\u03ba\u03b9\u03bb\u03bf\u03bc\u03bf\u03c1\u03c6\u03af\u03b1 \u03cc\u03c3\u03bf \u03c4\u03bf Kleefstra.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u03a5\u03c0\u03ac\u03c1\u03c7\u03b5\u03b9 \u03ba\u03b1\u03b9 \u03b7\u03c0\u03b9\u03cc\u03c4\u03b5\u03c1\u03bf \u03ac\u03ba\u03c1\u03bf \u03c4\u03bf\u03c5 \u03c6\u03ac\u03c3\u03bc\u03b1\u03c4\u03bf\u03c2<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u0388\u03bd\u03b1 \u03b1\u03ba\u03cc\u03bc\u03b7 \u03b5\u03bd\u03b4\u03b9\u03b1\u03c6\u03ad\u03c1\u03bf\u03bd \u03c3\u03c4\u03bf\u03b9\u03c7\u03b5\u03af\u03bf \u03c4\u03b7\u03c2 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7\u03c2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03cc\u03c4\u03b9 \u03b7 \u03b3\u03bd\u03c9\u03c3\u03c4\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03b4\u03b5\u03bd \u03ae\u03c4\u03b1\u03bd \u03af\u03b4\u03b9\u03b1 \u03c3\u03b5 \u03cc\u03bb\u03bf\u03c5\u03c2 \u03c4\u03bf\u03c5\u03c2 \u03c3\u03c5\u03bc\u03bc\u03b5\u03c4\u03ad\u03c7\u03bf\u03bd\u03c4\u03b5\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03ad\u03c3\u03c3\u03b5\u03c1\u03b1 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03b5\u03af\u03c7\u03b1\u03bd \u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03cc \u03c0\u03b7\u03bb\u03af\u03ba\u03bf \u03c3\u03c4\u03b7\u03bd \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae \u03c4\u03bf\u03c5 \u03c7\u03b1\u03bc\u03b7\u03bb\u03bf\u03cd \u03bc\u03ad\u03c3\u03bf\u03c5 \u03cc\u03c1\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03ad\u03bd\u03b1 \u03ac\u03c4\u03bf\u03bc\u03bf \u03b5\u03af\u03c7\u03b5 \u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03cc \u03c0\u03b7\u03bb\u03af\u03ba\u03bf \u03b5\u03bd\u03c4\u03cc\u03c2 \u03c4\u03bf\u03c5 \u03bc\u03ad\u03c3\u03bf\u03c5 \u03c6\u03c5\u03c3\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03bf\u03cd \u03b5\u03cd\u03c1\u03bf\u03c5\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039a\u03b1\u03b9 \u03c4\u03b1 <strong>\u03c0\u03ad\u03bd\u03c4\u03b5 \u03b1\u03c5\u03c4\u03ac \u03ac\u03c4\u03bf\u03bc\u03b1 \u03b5\u03af\u03c7\u03b1\u03bd sequence variants \u03c3\u03c4\u03bf EHMT1 \u03ba\u03b1\u03b9 \u03cc\u03c7\u03b9 9q34 deletions<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039f \u03b1\u03c1\u03b9\u03b8\u03bc\u03cc\u03c2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c0\u03bf\u03bb\u03cd \u03bc\u03b9\u03ba\u03c1\u03cc\u03c2 \u03b3\u03b9\u03b1 \u03bd\u03b1 \u03b5\u03be\u03b1\u03c7\u03b8\u03bf\u03cd\u03bd \u03bf\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c3\u03c5\u03bc\u03c0\u03b5\u03c1\u03ac\u03c3\u03bc\u03b1\u03c4\u03b1. \u03a0\u03b1\u03c1\u03cc\u03bb\u03b1 \u03b1\u03c5\u03c4\u03ac, \u03c4\u03bf \u03b5\u03cd\u03c1\u03b7\u03bc\u03b1 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03b5\u03c0\u03b5\u03b9\u03b4\u03ae \u03c3\u03c5\u03bc\u03b2\u03ac\u03bb\u03bb\u03b5\u03b9 \u03c3\u03c4\u03b7 \u03b4\u03b9\u03b5\u03cd\u03c1\u03c5\u03bd\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03b3\u03bd\u03c9\u03c3\u03c4\u03bf\u03cd \u03c6\u03b1\u03b9\u03bd\u03bf\u03c4\u03c5\u03c0\u03b9\u03ba\u03bf\u03cd \u03c6\u03ac\u03c3\u03bc\u03b1\u03c4\u03bf\u03c2 \u03c4\u03bf\u03c5 Kleefstra \u03ba\u03b1\u03b9 \u03b4\u03b5\u03af\u03c7\u03bd\u03b5\u03b9 \u03cc\u03c4\u03b9 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03c5\u03c0\u03ac\u03c1\u03c7\u03bf\u03c5\u03bd \u03ba\u03b1\u03b9 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03bc\u03b5 \u03c3\u03b1\u03c6\u03ce\u03c2 \u03b7\u03c0\u03b9\u03cc\u03c4\u03b5\u03c1\u03b7 \u03b3\u03bd\u03c9\u03c3\u03c4\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u0391\u03bd\u03b8\u03b5\u03ba\u03c4\u03b9\u03ba\u03ae \u03b5\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1 \u03ba\u03b1\u03b9 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b1 \u03b5\u03c0\u03b9\u03bb\u03b7\u03c0\u03c4\u03b9\u03ba\u03ac \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03b1<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03b5\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1 \u03c5\u03c0\u03ae\u03c1\u03c7\u03b5 \u03c3\u03c5\u03bd\u03bf\u03bb\u03b9\u03ba\u03ac \u03c3\u03c4\u03bf 15% \u03c4\u03b7\u03c2 \u03bf\u03bc\u03ac\u03b4\u03b1\u03c2, \u03cc\u03bc\u03c9\u03c2 \u03bf\u03b9 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ad\u03c2 \u03b5\u03bd\u03c4\u03cc\u03c0\u03b9\u03c3\u03b1\u03bd \u03ba\u03b1\u03b9 \u03bc\u03b9\u03b1 \u03bc\u03b9\u03ba\u03c1\u03cc\u03c4\u03b5\u03c1\u03b7 \u03c5\u03c0\u03bf\u03bf\u03bc\u03ac\u03b4\u03b1 \u03bc\u03b5 \u03c0\u03b9\u03bf \u03c3\u03cd\u03bd\u03b8\u03b5\u03c4\u03b7 \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u0388\u03be\u03b9 \u03b1\u03c0\u03cc \u03c4\u03b1 65 \u03ac\u03c4\u03bf\u03bc\u03b1, \u03c0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 9%, \u03b5\u03af\u03c7\u03b1\u03bd \u03b1\u03bd\u03b8\u03b5\u03ba\u03c4\u03b9\u03ba\u03ae \u03b5\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1<\/strong>, \u03b4\u03b7\u03bb\u03b1\u03b4\u03ae \u03bf\u03b9 \u03ba\u03c1\u03af\u03c3\u03b5\u03b9\u03c2 \u03b4\u03b5\u03bd \u03b5\u03bb\u03ad\u03b3\u03c7\u03bf\u03bd\u03c4\u03b1\u03bd \u03c0\u03b1\u03c1\u03ac \u03c4\u03b7 \u03b4\u03bf\u03ba\u03b9\u03bc\u03ae \u03c4\u03bf\u03c5\u03bb\u03ac\u03c7\u03b9\u03c3\u03c4\u03bf\u03bd \u03b4\u03cd\u03bf \u03ba\u03b1\u03c4\u03ac\u03bb\u03bb\u03b7\u03bb\u03b1 \u03b5\u03c0\u03b9\u03bb\u03b5\u03b3\u03bc\u03ad\u03bd\u03c9\u03bd \u03b1\u03bd\u03c4\u03b9\u03b5\u03c0\u03b9\u03bb\u03b7\u03c0\u03c4\u03b9\u03ba\u03ce\u03bd \u03c6\u03b1\u03c1\u03bc\u03ac\u03ba\u03c9\u03bd.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a0\u03ad\u03bd\u03c4\u03b5 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03b5\u03af\u03c7\u03b1\u03bd \u03b9\u03c3\u03c4\u03bf\u03c1\u03b9\u03ba\u03cc \u03b2\u03c1\u03b5\u03c6\u03b9\u03ba\u03ce\u03bd \u03c3\u03c0\u03b1\u03c3\u03bc\u03ce\u03bd (infantile spasms) \u03ba\u03b1\u03b9 \u03b4\u03cd\u03bf \u03b5\u03af\u03c7\u03b1\u03bd \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 <strong>Lennox Gastaut syndrome<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039f\u03b9 \u03c3\u03c5\u03b3\u03b3\u03c1\u03b1\u03c6\u03b5\u03af\u03c2 \u03b5\u03c0\u03b9\u03c3\u03b7\u03bc\u03b1\u03af\u03bd\u03bf\u03c5\u03bd \u03cc\u03c4\u03b9 \u03c0\u03b5\u03c1\u03b9\u03c3\u03c4\u03b1\u03c4\u03b9\u03ba\u03ac \u03b2\u03c1\u03b5\u03c6\u03b9\u03ba\u03ce\u03bd \u03c3\u03c0\u03b1\u03c3\u03bc\u03ce\u03bd \u03b5\u03af\u03c7\u03b1\u03bd \u03b1\u03bd\u03b1\u03c6\u03b5\u03c1\u03b8\u03b5\u03af \u03c3\u03c4\u03bf Kleefstra \u03ba\u03b1\u03b9 \u03c3\u03c4\u03bf \u03c0\u03b1\u03c1\u03b5\u03bb\u03b8\u03cc\u03bd, \u03b5\u03bd\u03ce \u03b7 \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1 Lennox Gastaut \u03b4\u03b5\u03bd \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03bf\u03cd\u03c3\u03b5 \u03bc\u03ad\u03c7\u03c1\u03b9 \u03c4\u03cc\u03c4\u03b5 \u03ba\u03b1\u03bb\u03ac \u03b1\u03bd\u03b1\u03b3\u03bd\u03c9\u03c1\u03b9\u03c3\u03bc\u03ad\u03bd\u03b7 \u03c3\u03c5\u03c3\u03c7\u03ad\u03c4\u03b9\u03c3\u03b7 \u03bc\u03b5 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039a\u03b1\u03b9 \u03b5\u03b4\u03ce \u03b1\u03c0\u03b1\u03b9\u03c4\u03b5\u03af\u03c4\u03b1\u03b9 \u03c0\u03c1\u03bf\u03c3\u03bf\u03c7\u03ae. \u0394\u03cd\u03bf \u03c0\u03b5\u03c1\u03b9\u03c3\u03c4\u03b1\u03c4\u03b9\u03ba\u03ac \u03b4\u03b5\u03bd \u03b1\u03c1\u03ba\u03bf\u03cd\u03bd \u03b3\u03b9\u03b1 \u03bd\u03b1 \u03ba\u03b1\u03b8\u03b9\u03b5\u03c1\u03ce\u03c3\u03bf\u03c5\u03bd \u03c4\u03bf Lennox Gastaut \u03c9\u03c2 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03cc \u03c4\u03bf\u03c5 Kleefstra, \u03b1\u03bb\u03bb\u03ac \u03b4\u03b7\u03bc\u03b9\u03bf\u03c5\u03c1\u03b3\u03bf\u03cd\u03bd \u03ad\u03bd\u03b1 \u03b5\u03c1\u03ce\u03c4\u03b7\u03bc\u03b1 \u03c0\u03bf\u03c5 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03c0\u03bb\u03ad\u03bf\u03bd \u03bd\u03b1 \u03b5\u03be\u03b5\u03c4\u03b1\u03c3\u03c4\u03b5\u03af \u03c3\u03b5 \u03bc\u03b5\u03b3\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b5\u03c2 \u03c3\u03b5\u03b9\u03c1\u03ad\u03c2 \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u039d\u03ad\u03b1 \u03ba\u03b1\u03b9 \u03bb\u03b9\u03b3\u03cc\u03c4\u03b5\u03c1\u03bf \u03b3\u03bd\u03c9\u03c3\u03c4\u03ac \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03ba\u03b1\u03c4\u03ad\u03b3\u03c1\u03b1\u03c8\u03b5 \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03bf\u03c1\u03b9\u03c3\u03bc\u03ad\u03bd\u03b1 \u03c0\u03bf\u03bb\u03cd \u03c3\u03c0\u03ac\u03bd\u03b9\u03b1 \u03b5\u03c5\u03c1\u03ae\u03bc\u03b1\u03c4\u03b1 \u03c0\u03bf\u03c5 \u03b4\u03b5\u03bd \u03b5\u03af\u03c7\u03b1\u03bd \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03b5\u03af \u03ba\u03b1\u03bb\u03ac \u03c3\u03c4\u03bf Kleefstra.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0394\u03cd\u03bf \u03ac\u03c4\u03bf\u03bc\u03b1 \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03c3\u03b1\u03bd <strong>\u03ba\u03b9\u03bd\u03ae\u03c3\u03b5\u03b9\u03c2 \u03c4\u03c9\u03bd \u03bf\u03c6\u03b8\u03b1\u03bb\u03bc\u03ce\u03bd \u03c0\u03b1\u03c1\u03cc\u03bc\u03bf\u03b9\u03b5\u03c2 \u03bc\u03b5 opsoclonus<\/strong>. \u03a3\u03c4\u03b9\u03c2 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b5\u03c2 \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2 \u03bf \u03ad\u03bb\u03b5\u03b3\u03c7\u03bf\u03c2 \u03b3\u03b9\u03b1 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf opsoclonus myoclonus \u03ae\u03c4\u03b1\u03bd \u03b1\u03c1\u03bd\u03b7\u03c4\u03b9\u03ba\u03cc\u03c2 \u03ba\u03b1\u03b9 \u03bf\u03b9 \u03ba\u03b9\u03bd\u03ae\u03c3\u03b5\u03b9\u03c2 \u03c5\u03c0\u03bf\u03c7\u03ce\u03c1\u03b7\u03c3\u03b1\u03bd \u03bc\u03b5 \u03c4\u03b7\u03bd \u03c0\u03ac\u03c1\u03bf\u03b4\u03bf \u03c4\u03bf\u03c5 \u03c7\u03c1\u03cc\u03bd\u03bf\u03c5.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0394\u03cd\u03bf \u03ac\u03c4\u03bf\u03bc\u03b1 \u03b5\u03af\u03c7\u03b1\u03bd \u03b8\u03c1\u03bf\u03bc\u03b2\u03bf\u03c0\u03b5\u03bd\u03af\u03b1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0388\u03bd\u03b1 \u03ac\u03c4\u03bf\u03bc\u03bf \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03c3\u03b5 \u03c0\u03c1\u03bf\u03bf\u03b4\u03b5\u03c5\u03c4\u03b9\u03ba\u03ae \u03b5\u03b3\u03ba\u03b5\u03c6\u03b1\u03bb\u03b9\u03ba\u03ae \u03b1\u03c4\u03c1\u03bf\u03c6\u03af\u03b1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0388\u03bd\u03b1 \u03b1\u03ba\u03cc\u03bc\u03b7 \u03ac\u03c4\u03bf\u03bc\u03bf \u03b5\u03af\u03c7\u03b5 \u03b4\u03b9\u03b1\u03b3\u03bd\u03c9\u03c3\u03c4\u03b5\u03af \u03bc\u03b5 \u03ba\u03b1\u03c1\u03ba\u03af\u03bd\u03c9\u03bc\u03b1 \u03c4\u03c9\u03bd \u03b5\u03c0\u03b9\u03bd\u03b5\u03c6\u03c1\u03b9\u03b4\u03af\u03c9\u03bd.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03b1 \u03b5\u03c5\u03c1\u03ae\u03bc\u03b1\u03c4\u03b1 \u03b1\u03c5\u03c4\u03ac \u03b5\u03af\u03bd\u03b1\u03b9 \u03b5\u03bd\u03b4\u03b9\u03b1\u03c6\u03ad\u03c1\u03bf\u03bd\u03c4\u03b1 \u03b1\u03ba\u03c1\u03b9\u03b2\u03ce\u03c2 \u03b5\u03c0\u03b5\u03b9\u03b4\u03ae \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03bf\u03b4\u03b7\u03b3\u03ae\u03c3\u03bf\u03c5\u03bd \u03c3\u03b5 \u03bd\u03ad\u03b1 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03b9\u03ba\u03ac \u03b5\u03c1\u03c9\u03c4\u03ae\u03bc\u03b1\u03c4\u03b1. \u0394\u03b5\u03bd \u03c0\u03c1\u03ad\u03c0\u03b5\u03b9 \u03cc\u03bc\u03c9\u03c2 \u03bd\u03b1 \u03b8\u03b5\u03c9\u03c1\u03b7\u03b8\u03bf\u03cd\u03bd \u03bd\u03ad\u03b1 \u03ba\u03b1\u03b8\u03b9\u03b5\u03c1\u03c9\u03bc\u03ad\u03bd\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c4\u03bf\u03c5 \u03a3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Kleefstra.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u038c\u03c4\u03b1\u03bd \u03ad\u03bd\u03b1 \u03b5\u03cd\u03c1\u03b7\u03bc\u03b1 \u03b5\u03bc\u03c6\u03b1\u03bd\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03c3\u03b5 \u03ad\u03bd\u03b1 \u03ae \u03b4\u03cd\u03bf \u03ac\u03c4\u03bf\u03bc\u03b1, \u03b4\u03b5\u03bd \u03bc\u03c0\u03bf\u03c1\u03bf\u03cd\u03bc\u03b5 \u03bd\u03b1 \u03b3\u03bd\u03c9\u03c1\u03af\u03b6\u03bf\u03c5\u03bc\u03b5 \u03b1\u03bd \u03c3\u03c7\u03b5\u03c4\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03c0\u03c1\u03b1\u03b3\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03bc\u03b5 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf \u03ae \u03b1\u03bd \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03b5\u03af \u03c3\u03c5\u03bc\u03c0\u03c4\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03cc \u03b3\u03b5\u03b3\u03bf\u03bd\u03cc\u03c2.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u039a\u03b1\u03b9 \u03b7 \u03ba\u03b1\u03c1\u03b4\u03b9\u03ac \u03c0\u03b1\u03c1\u03b1\u03bc\u03ad\u03bd\u03b5\u03b9 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03bc\u03ad\u03c1\u03bf\u03c2 \u03c4\u03b7\u03c2 \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1\u03c2<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u0394\u03bf\u03bc\u03b9\u03ba\u03ad\u03c2 \u03ba\u03b1\u03c1\u03b4\u03b9\u03b1\u03ba\u03ad\u03c2 \u03b1\u03bd\u03c9\u03bc\u03b1\u03bb\u03af\u03b5\u03c2 \u03b5\u03af\u03c7\u03b1\u03bd \u03ba\u03b1\u03c4\u03b1\u03b3\u03c1\u03b1\u03c6\u03b5\u03af \u03c3\u03c4\u03bf <strong>40% \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03bf\u03bb\u03b9\u03ba\u03bf\u03cd \u03b4\u03b5\u03af\u03b3\u03bc\u03b1\u03c4\u03bf\u03c2 \u03c4\u03b7\u03c2 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7\u03c2<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0395\u03bd\u03b4\u03b9\u03b1\u03c6\u03ad\u03c1\u03bf\u03bd \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03b9\u03ac\u03b6\u03b5\u03b9 \u03c4\u03bf \u03b3\u03b5\u03b3\u03bf\u03bd\u03cc\u03c2 \u03cc\u03c4\u03b9 \u03c3\u03c4\u03b7\u03bd \u03bf\u03bc\u03ac\u03b4\u03b1 \u03c4\u03c9\u03bd \u03bc\u03b5\u03b3\u03ac\u03bb\u03c9\u03bd deletions \u03c4\u03bf \u03c0\u03bf\u03c3\u03bf\u03c3\u03c4\u03cc \u03ad\u03c6\u03c4\u03b1\u03bd\u03b5 \u03c4\u03bf 82%, \u03ad\u03bd\u03b1\u03bd\u03c4\u03b9 37% \u03c3\u03c4\u03b7\u03bd \u03bf\u03bc\u03ac\u03b4\u03b1 \u03c4\u03c9\u03bd \u03bc\u03b9\u03ba\u03c1\u03cc\u03c4\u03b5\u03c1\u03c9\u03bd deletions \u03ba\u03b1\u03b9 29% \u03c3\u03c4\u03b7\u03bd \u03bf\u03bc\u03ac\u03b4\u03b1 \u03c4\u03c9\u03bd sequence variants. \u038c\u03c4\u03b1\u03bd \u03cc\u03bc\u03c9\u03c2 \u03bf\u03b9 \u03b4\u03cd\u03bf \u03bf\u03bc\u03ac\u03b4\u03b5\u03c2 \u03c4\u03c9\u03bd deletions \u03c3\u03c5\u03bd\u03b4\u03c5\u03ac\u03c3\u03c4\u03b7\u03ba\u03b1\u03bd \u03ba\u03b1\u03b9 \u03c3\u03c5\u03b3\u03ba\u03c1\u03af\u03b8\u03b7\u03ba\u03b1\u03bd \u03bc\u03b5 \u03c4\u03b1 sequence variants, \u03b7 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03ac, 53% \u03ad\u03bd\u03b1\u03bd\u03c4\u03b9 29%, \u03b4\u03b5\u03bd \u03ad\u03c6\u03c4\u03b1\u03c3\u03b5 \u03c4\u03bf \u03cc\u03c1\u03b9\u03bf \u03c4\u03b7\u03c2 \u03c3\u03c4\u03b1\u03c4\u03b9\u03c3\u03c4\u03b9\u03ba\u03ae\u03c2 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc\u03c4\u03b7\u03c4\u03b1\u03c2. \u039f\u03b9 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ad\u03c2 \u03ba\u03b1\u03c4\u03ad\u03b3\u03c1\u03b1\u03c8\u03b1\u03bd \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03c4\u03c1\u03af\u03b1 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03bc\u03b5 \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03b1\u03c7\u03ad\u03c2 \u03c4\u03b7\u03c2 \u03ba\u03b1\u03c1\u03b4\u03b9\u03b1\u03ba\u03ae\u03c2 \u03b1\u03b3\u03c9\u03b3\u03b9\u03bc\u03cc\u03c4\u03b7\u03c4\u03b1\u03c2 \u03ba\u03b1\u03b9 \u03c0\u03b1\u03c1\u03b1\u03c0\u03ad\u03bc\u03c0\u03bf\u03c5\u03bd \u03c3\u03c4\u03b1 \u03bd\u03b5\u03cc\u03c4\u03b5\u03c1\u03b1 \u03b4\u03b5\u03b4\u03bf\u03bc\u03ad\u03bd\u03b1 \u03b3\u03b9\u03b1 \u03c4\u03b9\u03c2 \u03b1\u03c1\u03c1\u03c5\u03b8\u03bc\u03af\u03b5\u03c2 \u03ba\u03b1\u03b9 \u03c4\u03b7\u03bd \u03ba\u03bf\u03bb\u03c0\u03b9\u03ba\u03ae \u03bc\u03b1\u03c1\u03bc\u03b1\u03c1\u03c5\u03b3\u03ae \u03c3\u03c4\u03bf \u03a3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra. \u0397 \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03c0\u03bf\u03c5 \u03b4\u03b9\u03b1\u03bc\u03bf\u03c1\u03c6\u03ce\u03bd\u03b5\u03c4\u03b1\u03b9 \u03b5\u03c0\u03bf\u03bc\u03ad\u03bd\u03c9\u03c2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03cc\u03c4\u03b9 \u03b7 \u03ba\u03b1\u03c1\u03b4\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ae \u03c3\u03c5\u03bc\u03bc\u03b5\u03c4\u03bf\u03c7\u03ae \u03c3\u03c4\u03bf Kleefstra \u03b4\u03b5\u03bd \u03c0\u03b5\u03c1\u03b9\u03bf\u03c1\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03b1\u03c1\u03b1\u03af\u03c4\u03b7\u03c4\u03b1 \u03bc\u03cc\u03bd\u03bf \u03c3\u03c4\u03b9\u03c2 \u03c3\u03c5\u03b3\u03b3\u03b5\u03bd\u03b5\u03af\u03c2 \u03b4\u03bf\u03bc\u03b9\u03ba\u03ad\u03c2 \u03b1\u03bd\u03c9\u03bc\u03b1\u03bb\u03af\u03b5\u03c2.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u03a4\u03b9 \u03c0\u03c1\u03ad\u03c0\u03b5\u03b9 \u03bd\u03b1 \u03ba\u03c1\u03b1\u03c4\u03ae\u03c3\u03bf\u03c5\u03bc\u03b5 \u03b1\u03c0\u03cc \u03c4\u03b7 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7<\/h2>\n\n\n\n<p class=\"is-style-info wp-block-paragraph\">\u0397 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b7 \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03b9\u03ce\u03bd\u03b5\u03b9 \u03b3\u03b9\u03b1 \u03b1\u03ba\u03cc\u03bc\u03b7 \u03bc\u03af\u03b1 \u03c6\u03bf\u03c1\u03ac \u03cc\u03c4\u03b9 \u03c4\u03bf \u03a3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra <strong>\u03b4\u03b5\u03bd \u03ad\u03c7\u03b5\u03b9 \u03bc\u03af\u03b1 \u03b5\u03bd\u03b9\u03b1\u03af\u03b1 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03b1\u03c5\u03c4\u03cc\u03c7\u03c1\u03bf\u03bd\u03b1 \u03cc\u03bc\u03c9\u03c2 \u03c0\u03c1\u03bf\u03c3\u03b8\u03ad\u03c4\u03b5\u03b9 \u03ba\u03ac\u03c4\u03b9 \u03c0\u03bf\u03bb\u03cd \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc. \u0397 \u03c6\u03b1\u03b9\u03bd\u03bf\u03c4\u03c5\u03c0\u03b9\u03ba\u03ae \u03c0\u03bf\u03b9\u03ba\u03b9\u03bb\u03bf\u03bc\u03bf\u03c1\u03c6\u03af\u03b1 \u03c6\u03b1\u03af\u03bd\u03b5\u03c4\u03b1\u03b9 \u03cc\u03c4\u03b9, \u03c4\u03bf\u03c5\u03bb\u03ac\u03c7\u03b9\u03c3\u03c4\u03bf\u03bd \u03c3\u03b5 \u03ad\u03bd\u03b1\u03bd \u03b2\u03b1\u03b8\u03bc\u03cc, \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03c3\u03c7\u03b5\u03c4\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03bc\u03b5 \u03c4\u03bf \u03b5\u03af\u03b4\u03bf\u03c2 \u03c4\u03b7\u03c2 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae\u03c2 \u03bc\u03b5\u03c4\u03b1\u03b2\u03bf\u03bb\u03ae\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u03a3\u03c4\u03b7 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b7 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03bf\u03bc\u03ac\u03b4\u03b1, \u03c4\u03b1 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03bc\u03b5 9q34 deletions \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03b6\u03b1\u03bd \u03c3\u03c5\u03c7\u03bd\u03cc\u03c4\u03b5\u03c1\u03b1 \u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7 \u03ae \u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03b1\u03c0\u03b7\u03c1\u03af\u03b1, \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae \u03ba\u03b9\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03b4\u03c5\u03c3\u03ba\u03bf\u03bb\u03af\u03b1, \u03b5\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1 \u03ba\u03b1\u03b9 cortical visual impairment \u03c3\u03b5 \u03c3\u03c7\u03ad\u03c3\u03b7 \u03bc\u03b5 \u03c4\u03b1 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03c0\u03bf\u03c5 \u03b5\u03af\u03c7\u03b1\u03bd sequence variants \u03c3\u03c4\u03bf EHMT1.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03b1 \u03b4\u03b5\u03b4\u03bf\u03bc\u03ad\u03bd\u03b1 \u03b1\u03c5\u03c4\u03ac \u03b4\u03b5\u03bd \u03bc\u03b1\u03c2 \u03b5\u03c0\u03b9\u03c4\u03c1\u03ad\u03c0\u03bf\u03c5\u03bd \u03b1\u03ba\u03cc\u03bc\u03b7 \u03bd\u03b1 \u03c0\u03c1\u03bf\u03b2\u03bb\u03ad\u03c8\u03bf\u03c5\u03bc\u03b5 \u03bc\u03b5 \u03b1\u03ba\u03c1\u03af\u03b2\u03b5\u03b9\u03b1 \u03c4\u03b7\u03bd \u03c0\u03bf\u03c1\u03b5\u03af\u03b1 \u03b5\u03bd\u03cc\u03c2 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03bf\u03c5 \u03c0\u03b1\u03b9\u03b4\u03b9\u03bf\u03cd \u03b1\u03c0\u03cc \u03c4\u03bf \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03cc \u03c4\u03bf\u03c5 \u03b1\u03c0\u03bf\u03c4\u03ad\u03bb\u03b5\u03c3\u03bc\u03b1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039c\u03b1\u03c2 \u03c6\u03ad\u03c1\u03bd\u03bf\u03c5\u03bd \u03cc\u03bc\u03c9\u03c2 \u03ad\u03bd\u03b1 \u03b2\u03ae\u03bc\u03b1 \u03c0\u03b9\u03bf \u03ba\u03bf\u03bd\u03c4\u03ac \u03c3\u03b5 \u03bc\u03b9\u03b1 <strong>\u03c0\u03b9\u03bf \u03b5\u03be\u03b1\u03c4\u03bf\u03bc\u03b9\u03ba\u03b5\u03c5\u03bc\u03ad\u03bd\u03b7 \u03ba\u03b1\u03c4\u03b1\u03bd\u03cc\u03b7\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03a3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Kleefstra<\/strong>, \u03cc\u03c0\u03bf\u03c5 \u03b4\u03b5\u03bd \u03b3\u03bd\u03c9\u03c1\u03af\u03b6\u03bf\u03c5\u03bc\u03b5 \u03b1\u03c0\u03bb\u03ce\u03c2 \u03cc\u03c4\u03b9 \u03c5\u03c0\u03ac\u03c1\u03c7\u03b5\u03b9 \u03b1\u03c0\u03ce\u03bb\u03b5\u03b9\u03b1 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1\u03c2 \u03c4\u03bf\u03c5 EHMT1, \u03b1\u03bb\u03bb\u03ac \u03b5\u03be\u03b5\u03c4\u03ac\u03b6\u03bf\u03c5\u03bc\u03b5 \u03c0\u03bf\u03b9\u03b1 \u03b1\u03ba\u03c1\u03b9\u03b2\u03ce\u03c2 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03bc\u03b5\u03c4\u03b1\u03b2\u03bf\u03bb\u03ae \u03c5\u03c0\u03ac\u03c1\u03c7\u03b5\u03b9 \u03ba\u03b1\u03b9 \u03c0\u03ce\u03c2 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03c3\u03c5\u03bd\u03b4\u03ad\u03b5\u03c4\u03b1\u03b9 \u03bc\u03b5 \u03c4\u03b7\u03bd \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03c5\u03c4\u03cc \u03b5\u03af\u03bd\u03b1\u03b9 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03c4\u03cc\u03c3\u03bf \u03b3\u03b9\u03b1 \u03c4\u03b7\u03bd \u03ba\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b7 \u03c0\u03b1\u03c1\u03b1\u03ba\u03bf\u03bb\u03bf\u03cd\u03b8\u03b7\u03c3\u03b7 \u03c4\u03c9\u03bd \u03b1\u03c4\u03cc\u03bc\u03c9\u03bd \u03bc\u03b5 Kleefstra \u03c3\u03ae\u03bc\u03b5\u03c1\u03b1 \u03cc\u03c3\u03bf \u03ba\u03b1\u03b9 \u03b3\u03b9\u03b1 \u03c4\u03bf\u03bd \u03c3\u03c7\u03b5\u03b4\u03b9\u03b1\u03c3\u03bc\u03cc \u03bc\u03b5\u03bb\u03bb\u03bf\u03bd\u03c4\u03b9\u03ba\u03ce\u03bd \u03bc\u03b5\u03bb\u03b5\u03c4\u03ce\u03bd \u03c6\u03c5\u03c3\u03b9\u03ba\u03ae\u03c2 \u03b9\u03c3\u03c4\u03bf\u03c1\u03af\u03b1\u03c2, \u03b2\u03b9\u03bf\u03b4\u03b5\u03b9\u03ba\u03c4\u03ce\u03bd \u03ba\u03b1\u03b9 \u03b8\u03b5\u03c1\u03b1\u03c0\u03b5\u03c5\u03c4\u03b9\u03ba\u03ce\u03bd \u03c0\u03b1\u03c1\u03b5\u03bc\u03b2\u03ac\u03c3\u03b5\u03c9\u03bd.<\/p>\n\n\n\n<div class=\"wp-block-group study-source\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<h2 class=\"wp-block-heading\">\u03a0\u03b7\u03b3\u03ae<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Frazier ZJ, Kilic S, Osika H, Mo A, Quinn M, Ballal S, Katz T, Shearer AE, Horlbeck MA, Pais LS, Dies KA, O&#8217;Donnell Luria A, Kossowsky J, Lipton JO, Kleefstra T, Srivastava S.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em>Novel Phenotypes and Genotype\u2013Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.<\/em><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Clinical Genetics.<\/strong> 107(6), 636\u2013645.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>DOI <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39746677\/\" data-type=\"link\" data-id=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39746677\/\">10.1111\/cge.14697<\/a><\/strong><\/p>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"<p>\u039c\u03b9\u03b1 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd Kleefstra Syndrome Clinic \u03c4\u03bf\u03c5 Boston Children\u2019s Hospital \u03c0\u03c1\u03bf\u03c3\u03c6\u03ad\u03c1\u03b5\u03b9 \u03bc\u03af\u03b1 \u03b1\u03c0\u03cc&#8230;<\/p>\n","protected":false},"author":1,"featured_media":2472,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_coblocks_attr":"","_coblocks_dimensions":"","_coblocks_responsive_height":"","_coblocks_accordion_ie_support":"","footnotes":""},"categories":[9],"tags":[204,63,129,206,36,205,124,201,203,141,191,109,97,202],"class_list":["post-2393","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-research","tag-9q34-","tag-boston-childrens-hospital","tag-clinical-genetics","tag-cortical-visual-impairment","tag-ehmt1","tag-sequence-variants","tag-124","tag-201","tag-203","tag-141","tag-191","tag-109","tag--kleefstra","tag-202"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - 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\u03b1\u03c0\u03cc \u03c4\u03bf Boston Children\u2019s Hospital \u03b4\u03b9\u03b5\u03c5\u03c1\u03cd\u03bd\u03b5\u03b9 \u03c4\u03b7\u03bd \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03c4\u03bf\u03c5 \u03a3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Kleefstra - \u03a4\u03bf \u03a3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra\" \/>\n<meta property=\"og:description\" content=\"\u039c\u03b9\u03b1 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd Kleefstra Syndrome Clinic \u03c4\u03bf\u03c5 Boston Children\u2019s Hospital \u03c0\u03c1\u03bf\u03c3\u03c6\u03ad\u03c1\u03b5\u03b9 \u03bc\u03af\u03b1 \u03b1\u03c0\u03cc...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/kleefstrasyndrome.com\/el\/genotype-phenotype-kleefstra-syndrome-boston\/\" \/>\n<meta property=\"og:site_name\" content=\"\u03a4\u03bf \u03a3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra\" \/>\n<meta property=\"article:publisher\" 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