Vulto-Van Silfhout-De Vries Syndrome (VSVS)

Alias:

Vulto-Van Silfout-De Vries Syndrome

Intellectual Developmental Disorder with Impaired Expressive Speech and Behavioral Abnormalities, with or Without Seizures

Iddisbas

Mrd24

Vsvs

Mental Retardation, Autosomal Dominant 24

Autosomal Dominant Non-Syndromic Intellectual Disability 24

Mental Retardation, Autosomal Dominant, Type 24

Intellectual Disability, Autosomal Dominant 24

Autosomal Dominant Mental Retardation 24

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Vulto-Van Silfhout-De Vries 综合症，也被称为 Vulto-Van Silfhout-De Vries 综合症，与自闭症和脆弱 X 综合症有关。与 Vulto-Van Silfhout-De Vries 综合症相关的基因是 DEAF1 (DEAF1 转录因子)，其相关通路/超级通路包括代谢和糖胺聚糖代谢。相关组织包括眼睛和大脑，相关表型包括智力障碍和步态障碍。

Related ID：

MALACARDS：VLT001

OMIM：615828

MESH：D008607