{"id":7204,"date":"2022-04-27T12:14:12","date_gmt":"2022-04-27T10:14:12","guid":{"rendered":"https:\/\/www.nexmif.it\/correlazione-genotipo-fenotipo\/"},"modified":"2023-11-30T09:41:57","modified_gmt":"2023-11-30T08:41:57","slug":"the-genotype-phenotype-correlation","status":"publish","type":"page","link":"https:\/\/www.nexmif.it\/en\/the-genotype-phenotype-correlation\/","title":{"rendered":"The genotype-phenotype correlation"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"7204\" class=\"elementor elementor-7204 elementor-4994\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-6327 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"6327\" 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-11e6 column-style-top column-top\" data-id=\"11e6\" 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-1cfdd22 elementor-widget elementor-widget-gva-heading-block\" data-id=\"1cfdd22\" data-element_type=\"widget\" data-widget_type=\"gva-heading-block.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<div class=\"gva-element-gva-heading-block gva-element\">   <div class=\"align-center style-1 widget gsc-heading\">\r\n      <div class=\"content-inner\">\r\n                     <div class=\"heading-icon\"><img decoding=\"async\" src=\"https:\/\/www.nexmif.it\/wp-content\/plugins\/gavias-oxpitan-themer\/elementor\/assets\/images\/icon-heading.png\" alt=\"Pathogenic variants\"\/><\/div>\r\n           \r\n                     <h2 class=\"title\">\r\n               <span>Pathogenic variants<\/span>\r\n            <\/h2>\r\n                              <div class=\"sub-title\"><span>Clinical signs<\/span><\/div>\r\n                  \r\n               <\/div>\r\n   <\/div>\r\n   <div class=\"clearfix\"><\/div>\r\n<\/div>\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-top-section elementor-element elementor-element-12227cf elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"12227cf\" 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-50 elementor-top-column elementor-element elementor-element-3c3db7b column-style-top column-top\" data-id=\"3c3db7b\" 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-6f525ce elementor-widget elementor-widget-text-editor\" data-id=\"6f525ce\" 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>Nexmif pathogenic variants are usually due to stop-gain, frame-shift errors, or to other larger structural variants. However, all of them involve a <strong>protein expression decrease in the structure of the genetic material.<\/strong><\/p>\n<p>This X-linked loss of function disorder shows a <strong>broad phenotypic spectrum in females, in contrast to a more severe picture in males<\/strong>.<\/p>\n<p>It was initially thought that females with this syndrome were all asymptomatic, as this tipically happens with X chromosome linked disorders. <strong>Not the case with Nexmif<\/strong>: females can have as many symptoms as males. Usually these show a wider variation of the developmental and cognitive profile. However, a severe form of epilepsy is more common in females, very difficult to treat. Hypothyroidism, precocious puberty, primary amenorrhea and delayed bone age have also been reported.<\/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<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-4ece526 column-style-top column-top\" data-id=\"4ece526\" 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-ec379aa elementor-widget elementor-widget-image\" data-id=\"ec379aa\" data-element_type=\"widget\" data-widget_type=\"image.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-image{text-align:center}.elementor-widget-image a{display:inline-block}.elementor-widget-image a img[src$=\".svg\"]{width:48px}.elementor-widget-image img{vertical-align:middle;display:inline-block}<\/style>\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"1023\" height=\"683\" src=\"https:\/\/www.nexmif.it\/wp-content\/uploads\/2022\/05\/varianti_patogene_nexmif.jpg\" class=\"attachment-full size-full wp-image-8049\" alt=\"\" \/>\t\t\t\t\t\t\t\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-top-section elementor-element elementor-element-f15c598 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"f15c598\" 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-6cedd1f column-style-top column-top\" data-id=\"6cedd1f\" 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-008cba2 elementor-widget elementor-widget-text-editor\" data-id=\"008cba2\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\tHowever, it is <strong>impossible to predict<\/strong> in advance what <strong>symptoms and problems<\/strong> a child will develop. Each person is unique, therefore, even if in the same formal condition or in the presence of the same identical type of mutation, each of us can have very <strong>different clinical manifestations<\/strong>.\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-top-section elementor-element elementor-element-5cb4f7de elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"5cb4f7de\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\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-1a74c94b column-style-top column-top\" data-id=\"1a74c94b\" 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-e3925da elementor-widget elementor-widget-gva-heading-block\" data-id=\"e3925da\" data-element_type=\"widget\" data-widget_type=\"gva-heading-block.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<div class=\"gva-element-gva-heading-block gva-element\">   <div class=\"align-center style-1 widget gsc-heading\">\r\n      <div class=\"content-inner\">\r\n                     <div class=\"heading-icon\"><img decoding=\"async\" src=\"https:\/\/www.nexmif.it\/wp-content\/plugins\/gavias-oxpitan-themer\/elementor\/assets\/images\/icon-heading.png\" alt=\"Signs and symptoms\"\/><\/div>\r\n           \r\n                     <h2 class=\"title\">\r\n               <span>Signs and symptoms<\/span>\r\n            <\/h2>\r\n                              <div class=\"sub-title\"><span>how the syndrome shows up<\/span><\/div>\r\n                  \r\n               <\/div>\r\n   <\/div>\r\n   <div class=\"clearfix\"><\/div>\r\n<\/div>\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-top-section elementor-element elementor-element-21913bd5 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"21913bd5\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\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-50 elementor-top-column elementor-element elementor-element-67397ed5 column-style-top column-top\" data-id=\"67397ed5\" 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-3f753cc elementor-widget elementor-widget-heading\" data-id=\"3f753cc\" data-element_type=\"widget\" data-widget_type=\"heading.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-heading-title{padding:0;margin:0;line-height:1}.elementor-widget-heading .elementor-heading-title[class*=elementor-size-]>a{color:inherit;font-size:inherit;line-height:inherit}.elementor-widget-heading .elementor-heading-title.elementor-size-small{font-size:15px}.elementor-widget-heading .elementor-heading-title.elementor-size-medium{font-size:19px}.elementor-widget-heading .elementor-heading-title.elementor-size-large{font-size:29px}.elementor-widget-heading .elementor-heading-title.elementor-size-xl{font-size:39px}.elementor-widget-heading .elementor-heading-title.elementor-size-xxl{font-size:59px}<\/style><h2 class=\"elementor-heading-title elementor-size-default\">Neurological Area<\/h2>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-59d10665 elementor-widget elementor-widget-accordion\" data-id=\"59d10665\" data-element_type=\"widget\" data-widget_type=\"accordion.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-accordion{text-align:left}.elementor-accordion .elementor-accordion-item{border:1px solid #d5d8dc}.elementor-accordion .elementor-accordion-item+.elementor-accordion-item{border-top:none}.elementor-accordion .elementor-tab-title{margin:0;padding:15px 20px;font-weight:700;line-height:1;cursor:pointer;outline:none}.elementor-accordion .elementor-tab-title .elementor-accordion-icon{display:inline-block;width:1.5em}.elementor-accordion .elementor-tab-title .elementor-accordion-icon svg{width:1em;height:1em}.elementor-accordion .elementor-tab-title .elementor-accordion-icon.elementor-accordion-icon-right{float:right;text-align:right}.elementor-accordion .elementor-tab-title .elementor-accordion-icon.elementor-accordion-icon-left{float:left;text-align:left}.elementor-accordion .elementor-tab-title .elementor-accordion-icon .elementor-accordion-icon-closed{display:block}.elementor-accordion .elementor-tab-title .elementor-accordion-icon .elementor-accordion-icon-opened,.elementor-accordion .elementor-tab-title.elementor-active .elementor-accordion-icon-closed{display:none}.elementor-accordion .elementor-tab-title.elementor-active .elementor-accordion-icon-opened{display:block}.elementor-accordion .elementor-tab-content{display:none;padding:15px 20px;border-top:1px solid #d5d8dc}@media (max-width:767px){.elementor-accordion .elementor-tab-title{padding:12px 15px}.elementor-accordion .elementor-tab-title .elementor-accordion-icon{width:1.2em}.elementor-accordion .elementor-tab-content{padding:7px 15px}}.e-con-inner>.elementor-widget-accordion,.e-con>.elementor-widget-accordion{width:var(--container-widget-width);--flex-grow:var(--container-widget-flex-grow)}<\/style>\t\t<div class=\"elementor-accordion\">\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1501\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-1501\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Developmental delay<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1501\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-1501\"><p><span lang=\"en-US\">Nexmif kids <strong>develop slower<\/strong>. They roll, sit and stand later than their peers. Some will learn to walk, some will not. The walking of a child with this condition is often stiff and awkward.<\/span><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1502\" class=\"elementor-tab-title\" data-tab=\"2\" role=\"button\" aria-controls=\"elementor-tab-content-1502\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Epilepsy<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1502\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"2\" role=\"region\" aria-labelledby=\"elementor-tab-title-1502\"><p><span lang=\"en-US\">Many children with this condition suffer from epilepsy. Typically these are early crisis, within the first year of life. The NEXMIF epilepsy syndrome is an overlap of MAE (<strong>myoclonus-astatic epilepsy<\/strong>) and EMA (<strong>epilepsy with eyelid myoclonia and absences<\/strong>).<\/span><\/p><p><span lang=\"en-US\">Some develop the so-called West&#8217;s syndrome which is another type of epilepsy, difficult to treat, with after awakening seizures in which arms and legs move towards each other. <strong>Different types of seizures can occur<\/strong>, such as those with stiffening (tonic), jerking (clonic), or seizures in which arms legs fall or also the head falls forward (atonic), myoclonus, limbs stiffening (focal seizures) or crises with staring and numbness (focal seizures with reduced state of consciousness), crises with fixed and blinking gaze (absences with eyelid myoclonias). Most children experience different types of seizures that are often difficult to control, with a phasic pattern, which is clearly leading to <strong>drug-resistant epilepsy<\/strong>.<\/span><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1503\" class=\"elementor-tab-title\" data-tab=\"3\" role=\"button\" aria-controls=\"elementor-tab-content-1503\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Sleep disorders<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1503\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"3\" role=\"region\" aria-labelledby=\"elementor-tab-title-1503\"><p><span lang=\"en-US\">Nexmif children show <strong>extraordinary difficulties in falling asleep<\/strong>, mostly after frequent and long awakenings. In some of these children problems are caused by epileptic seizures during sleep, not detected by adults. Surely the preparation at bedtime with a relaxing ritual, following a fixed pattern, can help the timing and quality of the first fall asleep. The use of delayed-release melatonin, always under medical advice, can be useful in falling asleep after awakening at night.<\/span><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1504\" class=\"elementor-tab-title\" data-tab=\"4\" role=\"button\" aria-controls=\"elementor-tab-content-1504\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Hypersensitivity to stimuli<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1504\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"4\" role=\"region\" aria-labelledby=\"elementor-tab-title-1504\"><p><span lang=\"en-US\">Children with the syndrome often have difficulty<strong> in understanding, processing and cataloging all the stimuli that they get<\/strong>. They can easily get over-stimulated without finalization. They may also suffer from unexpected stimuli such as loud sounds, other people\u2019s crying, or noises.<\/span><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1505\" class=\"elementor-tab-title\" data-tab=\"5\" role=\"button\" aria-controls=\"elementor-tab-content-1505\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Hypotonia or hypertonia<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1505\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"5\" role=\"region\" aria-labelledby=\"elementor-tab-title-1505\"><p><span lang=\"en-US\">Young children with this syndrome often have <strong>low muscle tone<\/strong>, which makes them feel <strong>weaker and tired<\/strong>. Lower muscle capacity makes it difficult for babies to lift their heads. This is one of the reasons why these children usually develop more slowly and with higher difficulty. <\/span><\/p><p><span lang=\"en-US\">In some cases, on the other hand, excessive muscle tension is recorded with consequent spasticity, crossed or tiotoe walking.<\/span><\/p><p><span style=\"font-weight: 400;\">\u00a0<\/span><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1506\" class=\"elementor-tab-title\" data-tab=\"6\" role=\"button\" aria-controls=\"elementor-tab-content-1506\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Problems with balance and ataxia<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1506\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"6\" role=\"region\" aria-labelledby=\"elementor-tab-title-1506\"><p><span lang=\"en-US\">It is often more difficult for Nexmif children to be coordinated and maintain balance. They have an awkward gait and fall more easily. Even the balance in the hands grip is poor. This makes it more difficult for them to write, bring a cup to their mouth or practice fine motor skills in general.<\/span><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-d4ada6a elementor-widget elementor-widget-heading\" data-id=\"d4ada6a\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Cognitive-behavioral Area<\/h2>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5d48a4a3 elementor-widget elementor-widget-accordion\" data-id=\"5d48a4a3\" data-element_type=\"widget\" data-widget_type=\"accordion.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-accordion\">\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1561\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-1561\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Speaking<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1561\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-1561\"><p>Learning to speak is very difficult for our children. Most can make sounds but not words. A small percentage are able to compose single words or short sentences, but<strong> they are generally better able to understand than to speak for themselves<\/strong>.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1562\" class=\"elementor-tab-title\" data-tab=\"2\" role=\"button\" aria-controls=\"elementor-tab-content-1562\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Autism<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1562\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"2\" role=\"region\" aria-labelledby=\"elementor-tab-title-1562\"><p>Children with Nexmif syndrome are more likely to exhibit <strong>autistic features<\/strong>. They are focused on themselves and do not have a great productive need for contact with other people. They often have difficulty getting and maintaining eye contact. They have oversized temper tantrums or can become aggressive. It is much more comfortable for them to return to fixed and predictable life patterns during the day: unexpected changes or events can be problematic.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1563\" class=\"elementor-tab-title\" data-tab=\"3\" role=\"button\" aria-controls=\"elementor-tab-content-1563\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Stereotypies<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1563\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"3\" role=\"region\" aria-labelledby=\"elementor-tab-title-1563\"><p>Many children like to make <strong>nervous, repetitive movements with their arms and hands<\/strong>. Such movements are called stereotypies. Some of them wave their hands and fingers, others make twisting or rubbing movements on the chest, especially in moments of excitement or emotion.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1564\" class=\"elementor-tab-title\" data-tab=\"4\" role=\"button\" aria-controls=\"elementor-tab-content-1564\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Learning problems<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1564\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"4\" role=\"region\" aria-labelledby=\"elementor-tab-title-1564\"><p>These children mostly have <strong>learning difficulties<\/strong>. It is also difficult to try to teach them something since they are also often hyperactive. Most of them have an intelligence quotient below 70, which we rate as intellectual disability.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1565\" class=\"elementor-tab-title\" data-tab=\"5\" role=\"button\" aria-controls=\"elementor-tab-content-1565\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">ADHD - Attention Deficit and Hyperactivity Disorder<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1565\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"5\" role=\"region\" aria-labelledby=\"elementor-tab-title-1565\"><p>It is clear from the outset that these children have difficulty in <strong>maintaining visual engagement and attention<\/strong> on a game or even on a cartoon. They pass from one activity to another without consciousness or intention, they get very easily distracted. They have impulsive behaviors, i.e. they tend to act first and then think. In addition, they have problems <strong>staying still<\/strong> even during lunch or at school, having great difficulties in managing very small tasks.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\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<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-5ce7fe86 column-style-top column-top\" data-id=\"5ce7fe86\" 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-4151bb6 elementor-widget elementor-widget-heading\" data-id=\"4151bb6\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Other<\/h2>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3e79ed75 elementor-widget elementor-widget-accordion\" data-id=\"3e79ed75\" data-element_type=\"widget\" data-widget_type=\"accordion.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-accordion\">\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1041\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-1041\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Problems with breastfeeding<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1041\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-1041\"><p>Some children with Nexmif syndrome have problems with breastfeeding. These babies have<strong> slow, difficult, and erratic sucking on the breast or teat<\/strong>. Feedings are often very long and sometimes it is necessary to temporarily administer tube feeding to babies, because otherwise they will not receive enough nourishment. Usually, with growth, the ability to feed and drink improves in most cases.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1042\" class=\"elementor-tab-title\" data-tab=\"2\" role=\"button\" aria-controls=\"elementor-tab-content-1042\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Reflux<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1042\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"2\" role=\"region\" aria-labelledby=\"elementor-tab-title-1042\"><p>Children with this syndrome often suffer from <strong>reflux<\/strong> of food and liquids from the stomach to the esophagus. Since the stomach contains acid, this also ends up in the esophagus and sometimes goes up to the mouth. This acid can cause pain, making babies cry and sometimes making them inappetent or calling up regurgitation or vomiting.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1043\" class=\"elementor-tab-title\" data-tab=\"3\" role=\"button\" aria-controls=\"elementor-tab-content-1043\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Sialorrhea<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1043\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"3\" role=\"region\" aria-labelledby=\"elementor-tab-title-1043\"><p>Nexmif babies can produce a lot of saliva. This is due to the the face and mouth muscle relaxation, which often facilitates the involuntary outflow of saliva from the mouth itself. The other option would be the spontaneous \/ automated swallowing: it is not taken for granted, as it requires the patient to be able to feel his own body. It is advisable to insist on trying to teach the child how to do it.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1044\" class=\"elementor-tab-title\" data-tab=\"4\" role=\"button\" aria-controls=\"elementor-tab-content-1044\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Constipation<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1044\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"4\" role=\"region\" aria-labelledby=\"elementor-tab-title-1044\"><p><strong>Constipation<\/strong> is very common. Often stools are hard and dry, with difficult evacuation. This can also cause abdominal pain, bloated stomach or reduce appetite.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1045\" class=\"elementor-tab-title\" data-tab=\"5\" role=\"button\" aria-controls=\"elementor-tab-content-1045\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Sphincter control<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1045\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"5\" role=\"region\" aria-labelledby=\"elementor-tab-title-1045\"><p>Most of these children are unable to <strong>develop a complete sphincter control<\/strong> and need to use diapers beyond the typical age.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1046\" class=\"elementor-tab-title\" data-tab=\"6\" role=\"button\" aria-controls=\"elementor-tab-content-1046\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Poor eyesight<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1046\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"6\" role=\"region\" aria-labelledby=\"elementor-tab-title-1046\"><p><strong>Strabismus<\/strong> is quite common in children with this syndrome. In addition, the so-called cerebral visual impairment can occur. It means that the brain has difficulty perceiving the stimuli that the eyes transmit and this makes it difficult for children to see, even if they do not have a real eye problem. One case of a rare maculopathy (<strong>Torpedo<\/strong>) associated with this mutation is reported in the literature. Since it is unclear whether this gene may play a role in ocular development, it is recommended that ophthalmologic and orthoptic checks are performed after diagnosis.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1047\" class=\"elementor-tab-title\" data-tab=\"7\" role=\"button\" aria-controls=\"elementor-tab-content-1047\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Weight problems<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1047\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"7\" role=\"region\" aria-labelledby=\"elementor-tab-title-1047\"><p>Although children may experience<strong> growth difficulties <\/strong>at an early stage, as they grow older, people with this syndrome have a greater chance of <strong>becoming overweight<\/strong>.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1048\" class=\"elementor-tab-title\" data-tab=\"8\" role=\"button\" aria-controls=\"elementor-tab-content-1048\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Height<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1048\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"8\" role=\"region\" aria-labelledby=\"elementor-tab-title-1048\"><p>In some cases, Nexmif children are <strong>shorter than their peers<\/strong>.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1049\" class=\"elementor-tab-title\" data-tab=\"9\" role=\"button\" aria-controls=\"elementor-tab-content-1049\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Head size<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1049\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"9\" role=\"region\" aria-labelledby=\"elementor-tab-title-1049\">Even the head, in some of these children, does not grow according to the typical development curve. Some cases of microcephaly are reported.<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-10410\" class=\"elementor-tab-title\" data-tab=\"10\" role=\"button\" aria-controls=\"elementor-tab-content-10410\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Typical appearance<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-10410\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"10\" role=\"region\" aria-labelledby=\"elementor-tab-title-10410\"><p>In many syndromes, children often have a visibly typical appearance. This means that children with the same syndrome often look more alike than their own brothers and sisters, even if they are not related to each other. Instead, Nexmif kids mostly have <strong>few noticeable external features<\/strong>. In some cases, a round face shape is noted, with the upper part of the head often narrower than the lower part, the nose often small or a reduced distance between nose and mouth.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\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<section class=\"elementor-section elementor-top-section elementor-element elementor-element-4403fa80 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"4403fa80\" 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-74b17726 column-style-top column-top\" data-id=\"74b17726\" 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-775d9439 elementor-align-center elementor-widget elementor-widget-button\" data-id=\"775d9439\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-xl elementor-animation-grow\" href=\"\/en\/nexmif\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t<span class=\"elementor-button-icon elementor-align-icon-right\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-arrow-circle-right\"><\/i>\t\t\t<\/span>\n\t\t\t\t\t\t<span class=\"elementor-button-text\">Back to the Nexmif section<\/span>\n\t\t<\/span>\n\t\t\t\t\t<\/a>\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>Pathogenic variants Clinical signs Nexmif pathogenic variants are usually due to stop-gain, frame-shift errors, or to other larger structural variants. However, all of them involve a protein expression decrease in the structure of the genetic material. This X-linked loss of function disorder shows a broad phenotypic spectrum in females, in contrast to a more severe [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_mc_calendar":[],"footnotes":""},"class_list":["post-7204","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Genotype - phenotype correlation - Unione Italiana Nexmif<\/title>\n<meta name=\"description\" content=\"Nexmif syndrome occurs in both males and females with varying severity. 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