{"id":7356,"date":"2022-05-05T16:53:00","date_gmt":"2022-05-05T14:53:00","guid":{"rendered":"https:\/\/www.nexmif.it\/uncategorized\/nexmif-encephalopathy-an-x-linked-disorder-with-male-and-female-phenotypic-patterns\/"},"modified":"2022-05-30T09:54:45","modified_gmt":"2022-05-30T07:54:45","slug":"male-female-phenotype-models","status":"publish","type":"post","link":"https:\/\/www.nexmif.it\/en\/scientific-journals\/male-female-phenotype-models\/","title":{"rendered":"Male and female phenotype models"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"7356\" class=\"elementor elementor-7356 elementor-6183\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-3b719456 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"3b719456\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-1cbe09e0 column-style-top column-top\" data-id=\"1cbe09e0\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-61623854 elementor-widget elementor-widget-text-editor\" data-id=\"61623854\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.20.0 - 11-03-2024 *\/\n.elementor-widget-text-editor.elementor-drop-cap-view-stacked .elementor-drop-cap{background-color:#69727d;color:#fff}.elementor-widget-text-editor.elementor-drop-cap-view-framed .elementor-drop-cap{color:#69727d;border:3px solid;background-color:transparent}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap{margin-top:8px}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap-letter{width:1em;height:1em}.elementor-widget-text-editor .elementor-drop-cap{float:left;text-align:center;line-height:1;font-size:50px}.elementor-widget-text-editor .elementor-drop-cap-letter{display:inline-block}<\/style>\t\t\t\t<p>Through an international collaboration, led by <strong>Prof. Ingrid E. Scheffer of the University of Melbourne<\/strong> &#8211; Australia, the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy were analyzed. Phenotypic features included developmental delay \/ intellectual disability in 86 cases (99%), seizures in 71 cases (83%) and multiple comorbidities. Males reported more severe developmental impairment; the females instead showed a variable picture often accompanied by epilepsy. In all cases, NEXMIF encephalopathy manifested itself due to <strong>variants with loss of function<\/strong>.<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-50ef540f elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"50ef540f\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-20f9fc8e column-style-top column-top\" data-id=\"20f9fc8e\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-909ece5 elementor-position-left elementor-view-default elementor-mobile-position-top elementor-vertical-align-top elementor-widget elementor-widget-icon-box\" data-id=\"909ece5\" data-element_type=\"widget\" data-widget_type=\"icon-box.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<link rel=\"stylesheet\" href=\"https:\/\/www.nexmif.it\/wp-content\/plugins\/elementor\/assets\/css\/widget-icon-box.min.css\">\t\t<div class=\"elementor-icon-box-wrapper\">\n\t\t\t\t\t\t<div class=\"elementor-icon-box-icon\">\n\t\t\t\t<a href=\"\/wp-content\/uploads\/2022\/05\/NEXMIF_encephalopathy_an_X-linked_disorder.pdf\" class=\"elementor-icon elementor-animation-\" tabindex=\"-1\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-file-pdf\"><\/i>\t\t\t\t<\/a>\n\t\t\t<\/div>\n\t\t\t\t\t\t<div class=\"elementor-icon-box-content\">\n\t\t\t\t<h3 class=\"elementor-icon-box-title\">\n\t\t\t\t\t<a href=\"\/wp-content\/uploads\/2022\/05\/NEXMIF_encephalopathy_an_X-linked_disorder.pdf\" >\n\t\t\t\t\t\tNEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns <i class=\"fa fa-download\"><\/i>\t\t\t\t\t<\/a>\n\t\t\t\t<\/h3>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Through an international collaboration, led by Prof. Ingrid E. Scheffer of the University of Melbourne &#8211; Australia, the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy were analyzed. Phenotypic features included developmental delay \/ intellectual disability in 86 cases (99%), seizures in 71 cases (83%) and multiple comorbidities. Males reported more severe developmental impairment; [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":8116,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[91],"tags":[],"class_list":["post-7356","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-scientific-journals"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Male and female phenotype models - Unione Italiana Nexmif<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.nexmif.it\/en\/scientific-journals\/male-female-phenotype-models\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Male and female phenotype models - Unione Italiana Nexmif\" \/>\n<meta property=\"og:description\" content=\"Through an international collaboration, led by Prof. Ingrid E. Scheffer of the University of Melbourne &#8211; Australia, the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy were analyzed. Phenotypic features included developmental delay \/ intellectual disability in 86 cases (99%), seizures in 71 cases (83%) and multiple comorbidities. Males reported more severe developmental impairment; [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.nexmif.it\/en\/scientific-journals\/male-female-phenotype-models\/\" \/>\n<meta property=\"og:site_name\" content=\"Unione Italiana Nexmif\" \/>\n<meta property=\"article:published_time\" content=\"2022-05-05T14:53:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2022-05-30T07:54:45+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.nexmif.it\/wp-content\/uploads\/2022\/05\/fenotipi_maschili_femminili-1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1025\" \/>\n\t<meta property=\"og:image:height\" content=\"683\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"tecnico\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"tecnico\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.nexmif.it\/en\/scientific-journals\/male-female-phenotype-models\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.nexmif.it\/en\/scientific-journals\/male-female-phenotype-models\/\"},\"author\":{\"name\":\"tecnico\",\"@id\":\"https:\/\/www.nexmif.it\/en\/#\/schema\/person\/d7d9d7ada6f302c812dbc5408405c955\"},\"headline\":\"Male and female phenotype models\",\"datePublished\":\"2022-05-05T14:53:00+00:00\",\"dateModified\":\"2022-05-30T07:54:45+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.nexmif.it\/en\/scientific-journals\/male-female-phenotype-models\/\"},\"wordCount\":90,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\/\/www.nexmif.it\/en\/#organization\"},\"image\":{\"@id\":\"https:\/\/www.nexmif.it\/en\/scientific-journals\/male-female-phenotype-models\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/www.nexmif.it\/wp-content\/uploads\/2022\/05\/fenotipi_maschili_femminili-1.jpg\",\"articleSection\":[\"Scientific journals\"],\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\/\/www.nexmif.it\/en\/scientific-journals\/male-female-phenotype-models\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.nexmif.it\/en\/scientific-journals\/male-female-phenotype-models\/\",\"url\":\"https:\/\/www.nexmif.it\/en\/scientific-journals\/male-female-phenotype-models\/\",\"name\":\"Male and female phenotype models - 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