Moebius Syndrome (MBS)

Moebius Syndrome(来自ICD-11)
别称:
Mobius Syndrome
Oromandibular-Limb Hypogenesis Spectrum
Moebius Congenital Oculofacial Paralysis
Congenital Facial Diplegia
Moebius Sequence
Möbius Syndrome
Congenital Ophthalmoplegia and Facial Paresis
Mobius Ii Syndrome
Moebius Spectrum
Möbius Sequence
Mbs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Moebius Syndrome, also known as mobius syndrome, is related to fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement and strabismus, and has symptoms including palatal weakness An important gene associated with Moebius Syndrome is REV3L (REV3 Like, DNA Directed Polymerase Zeta Catalytic Subunit), and among its related pathways/superpathways is Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include eye and tongue, and related phenotypes are ptosis and facial palsy
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基础信息

遗传方式
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患病率/发病率
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参考文献
MALACARDS
AD
Antenatal
1-9/100000
18
146
39

疾病表征

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靶点药物

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疾病模型

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MGI
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