{"id":1225,"date":"2018-12-23T14:31:53","date_gmt":"2018-12-23T14:31:53","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1225"},"modified":"2026-02-24T15:23:01","modified_gmt":"2026-02-24T15:23:01","slug":"mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/","title":{"rendered":"MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts)"},"content":{"rendered":"<p>This article delineates a novel syndrome, which was named COFG syndrome with respect to the developmental defects observed: brain malformations, especially affecting the cerebellum, developmental delay and intellectual disability, developmental defects of the external genitals resulting in absence of the scrotum in boys and absence of the labia majora in girls, eye anomalies and distinctive facial features. Malfunction of <em>MAB21L1<\/em>, a protein of largely unknown function, has been identified as underlying molecular cause using next generation sequencing with all affected individuals, descending from 5 independent families, harbour recessively inherited <em>MAB21L1<\/em> loss of function alleles. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2018\/11\/28\/jmedgenet-2018-105623\">https:\/\/jmg.bmj.com\/content\/early\/2018\/11\/28\/jmedgenet-2018-105623<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/mab21l1-figure-2-2\/\" rel=\"attachment wp-att-1226\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1226\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/mab21l1-figure-2-2-300x170.jpg\" alt=\"\" width=\"300\" height=\"170\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/mab21l1-figure-2-2-300x170.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/mab21l1-figure-2-2-768x435.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/mab21l1-figure-2-2-1024x580.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/mab21l1-figure-2-2-640x363.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/mab21l1-figure-2-2.jpg 1978w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>This article delineates a novel syndrome, which was named COFG syndrome with respect to the developmental defects observed: brain malformations, especially affecting the cerebellum, developmental delay and intellectual disability, developmental defects of the external genitals resulting in absence of the scrotum in boys and absence of the labia majora in girls, eye anomalies and distinctive [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1225","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts) - JMG Contact blog<\/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:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"This article delineates a novel syndrome, which was named COFG syndrome with respect to the developmental defects observed: brain malformations, especially affecting the cerebellum, developmental delay and intellectual disability, developmental defects of the external genitals resulting in absence of the scrotum in boys and absence of the labia majora in girls, eye anomalies and distinctive [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2018-12-23T14:31:53+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T15:23:01+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/mab21l1-figure-2-2.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1978\" \/>\n\t<meta property=\"og:image:height\" content=\"1121\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\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:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts)\",\"datePublished\":\"2018-12-23T14:31:53+00:00\",\"dateModified\":\"2026-02-24T15:23:01+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2018\\\/12\\\/mab21l1-figure-2-2-300x170.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/\",\"name\":\"MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2018\\\/12\\\/mab21l1-figure-2-2-300x170.jpg\",\"datePublished\":\"2018-12-23T14:31:53+00:00\",\"dateModified\":\"2026-02-24T15:23:01+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/#primaryimage\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2018\\\/12\\\/mab21l1-figure-2-2.jpg\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2018\\\/12\\\/mab21l1-figure-2-2.jpg\",\"width\":1978,\"height\":1121},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/","og_locale":"en_US","og_type":"article","og_title":"MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts) - JMG Contact blog","og_description":"This article delineates a novel syndrome, which was named COFG syndrome with respect to the developmental defects observed: brain malformations, especially affecting the cerebellum, developmental delay and intellectual disability, developmental defects of the external genitals resulting in absence of the scrotum in boys and absence of the labia majora in girls, eye anomalies and distinctive [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/","og_site_name":"JMG Contact blog","article_published_time":"2018-12-23T14:31:53+00:00","article_modified_time":"2026-02-24T15:23:01+00:00","og_image":[{"width":1978,"height":1121,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/mab21l1-figure-2-2.jpg","type":"image\/jpeg"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts)","datePublished":"2018-12-23T14:31:53+00:00","dateModified":"2026-02-24T15:23:01+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/"},"wordCount":128,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/mab21l1-figure-2-2-300x170.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/","url":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/","name":"MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"primaryImageOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/#primaryimage"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/mab21l1-figure-2-2-300x170.jpg","datePublished":"2018-12-23T14:31:53+00:00","dateModified":"2026-02-24T15:23:01+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/#primaryimage","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/mab21l1-figure-2-2.jpg","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/mab21l1-figure-2-2.jpg","width":1978,"height":1121},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mab21l1-loss-of-function-causes-a-syndromic-neurodevelopmental-disorder-with-distinctive-cerebellar-ocular-craniofacial-and-genital-features-cofg-syndrome\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, Craniofacial and genital features (COFG syndrome) (Contributed by Dr Miriam Schmidts)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1225","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=1225"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1225\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1225"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1225"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1225"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}