Xia-Gibbs Syndrome (‘XGS’) is a very rare, newly-discovered genetic syndrome in which the AHDC1 gene is mutated or missing. While only a small number of people have been diagnosed with XGS so far, it is likely there are thousands affected worldwide.

Xia-Gibbs Syndrome (XGS) is a rare genetic disorder in which the AHDC1 gene is damaged. As a neurodevelopmental disorder, it originates in the brain, causing physical and intellectual disability. XGS appears within the first year of life with hypotonia (poor …

2021年12月9日 · The main features of Xia-Gibbs syndrome (XGS), present in a majority of affected individuals, include delayed motor milestones, speech delay with severely limited or absent speech, moderate-to-severe cognitive impairment, hypotonia, structural brain anomalies, and nonspecific dysmorphic features.

Xia-Gibbs syndrome is a neurological disorder characterized by weak muscle tone (hypotonia), mild to severe intellectual disability and delayed development. Explore symptoms, inheritance, genetics of this condition.

2024年11月21日 · 如果出现呼吸道致敏的健康危害符号（GHS08），则不应出现用以表示皮肤过敏，或表示皮肤刺激或眼刺激的感叹号（GHS07），但仍必须用于其他危险。 顺序省略规则外，对GHS标签信息在标签上的位置也有要求，GHS危险象形图、信号词和危险说明在标签上应放在一起。 各国主管机构一般还会规定象形图的尺寸要求，和运输象形图尺寸要求类似是指象形图本身红色框架的侧面，而不是放置象形图的虚拟正方形的侧面。 例如欧盟要求每个危险象形图必 …

Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations in the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene that are predicted to lead to truncated AHDC1 protein synthesis. More than 270 individuals have been diagnosed with XGS worldwide.

Xia-Gibbs syndrome is associated with symptoms including global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cyst, delayed myelination, thinned corpus callosum, cutis aplasia, cortical visual impairment, …

Final thought: Some of the most difficult challenges like this have been met. Think of therapy for Spinal Muscular Atrophy (SMA) and related advances in Huntingtons Corea and Duchenne’s Muscular Dystrophy. Optimism and persistence is key.

Xia-Gibbs syndrome (XGS: OMIM # 615829) results from de novo truncating mutations within the AT-Hook DNA Binding Motif Containing 1 gene (AHDC1). To further define the phenotypic and molecular spectrum of this disorder, we established an XGS Registry and recruited patients from a worldwide pool of a …

Xia-Gibbs Society seeks to provide support to and advocate for those with Xia-Gibbs Syndrome and their families and to foster hope for the future. The Society also aims to raise awareness about Xia-Gibbs Syndrome among the medical and general community and to support, fund and promote scientific and medical research.