Wieacker-Wolff Syndrome (WRWF)

Wieacker-Wolff综合症(来自ICD-11)

别称:

Wieacker Syndrome

Intellectual Disability-Developmental Delay-Contractures Syndrome

Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia

Foot Contractures-Muscle Atrophy-Oculomotor Apraxia Syndrome

Miles-Carpenter X-Linked Mental Retardation Syndrome

Mrxs4

Wrwf

Mcs

Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches

Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy

Oculomotor Apraxia with Congenital Contractures and Muscle Atrophy

Contractures of Feet-Muscle Atrophy-Oculomotor Apraxia

Mental Retardation, X-Linked, Syndromic 4

Wieacker-Wolf Syndrome

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Wieacker-Wolff 综合征，又称 Wieacker 综合征，与 Wieacker-Wolff 综合征、女性特异性和 Miles-Carpenter 综合征有关，症状包括呼吸暂停、肌肉痉挛和眼肌麻痹。与 Wieacker-Wolff 综合征有关的重要基因是 ZC4H2 (Zinc Finger C4H2-Type Containing)。相关组织包括舌和眼，相关表型为眼球运动异常和全球发育延迟

查看原文参与反馈