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 …

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 …

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 …

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

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 …

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 …

Xia-Gibbs syndrome is associated with symptoms including global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cyst, delayed myelination, …

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 …

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 …

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 …