Carey-Fineman-Ziter Syndrome 1 (CFZS1)

Carey-Fineman-Ziter综合征1型(来自ICD-11)

别称:

Carey-Fineman-Ziter Syndrome

Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence

Congenital Nonprogressive Myopathy with Moebius and Robin Sequences

Myopathy-Moebius-Robin Syndrome

Cfzs1

Congenital Non-Progressive Myopathy with Moebius and Robin Sequences

Myopathy, Congenital Nonprogressive with Moebius and Robin Sequences

Myopathy Moebius Robin Syndrome

Cfz Syndrome

Cfzs

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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

Carey-Fineman-Ziter Syndrome 1, also known as Carey-Fineman-Ziter syndrome, is related to congenital myopathy and Moebius syndrome, and has symptoms including ophthalmoplegia and facial paresis. An important gene associated with Carey-Fineman-Ziter Syndrome 1 is MYMK (Myomaker, Myoblast Fusion Factor), and among its related pathways/superpathways are Defective DPM3 causes DPM3-CDG and Pathophysiological roles of DUX4 in FSHD1. Affiliated tissues include brain and skeletal muscle, and related phenotypes are ptosis and facial palsy.

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