Desanto-Shinawi Syndrome (DESSH)

Desanto-Shinawi综合征(来自ICD-11)

别称:

Desanto-Shinawi Syndrome Due to Wac Point Mutation

Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due to 10p11.21p12.31 Microdeletion

Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due to Wac Point Mutation

Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome

Desanto-Shinawi Syndrome Due to 10p11.21p12.31 Microdeletion

Dessh

Developmental Delay, Behavioral Abnormalities, Facial Dysmorphism, and Ocular Abnormalities

Chromosome 10p12-P11 Deletion Syndrome

10p12p11 Microdeletion Syndrome

Deletion 10p11.21p12.31

Monosomy 10p11.21p12.31

Del(10)(p11.21p12.31)

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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

德桑托-辛阿维综合症，也称为面部畸形-发育迟缓-行为异常综合症，由于10p11.21p12.31微缺失引起，与挛缩、翼状胬肉和脊椎-掌骨-跖骨融合综合症1a和肌张力低下有关。与德桑托-辛阿维综合症有关的重要基因是WAC（具有螺旋-螺旋结构的WW域适应蛋白）。附属组织包括眼睛和心脏，相关表型为智力障碍和全球发育迟缓。

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