Wieacker-Wolff Syndrome (WRWF)

Wieacker-Wolff Syndrome(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
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Wieacker-Wolff Syndrome, also known as wieacker syndrome, is related to wieacker-wolff syndrome, female-restricted and miles-carpenter syndrome, and has symptoms including apnea, muscle spasticity and ophthalmoplegia. An important gene associated with Wieacker-Wolff Syndrome is ZC4H2 (Zinc Finger C4H2-Type Containing). Affiliated tissues include tongue and eye, and related phenotypes are abnormality of eye movement and global developmental delay
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基础信息

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参考文献
MALACARDS
XL
XLD
Newborn
<1/1000000
2
10
11

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