Valproate Embryopathy (FVS)

Valproate Embryopathy(来自ICD-11)
别称:
Fetal Valproate Syndrome
Fetal Valproate Spectrum Disorder
Fetal Valproic Acid Syndrome
Valproic Acid Embryopathy
Valproate Embryopathy, Susceptibility to
Valproic Acid Antenatal Infection
Foetal Valproic Acid Syndrome
Foetal Valproate Syndrome
Fvs
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Valproate Embryopathy, also known as fetal valproate syndrome, is related to optic nerve hypoplasia, bilateral and septooptic dysplasia. An important gene associated with Valproate Embryopathy is BUD23 (BUD23 RRNA Methyltransferase And Ribosome Maturation Factor), and among its related pathways/superpathways are Ectoderm differentiation and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include bone and heart, and related phenotypes are short nose and epicanthus
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相关ID:
MESH:C536525
ICD11:1055155432

基础信息

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参考文献
MALACARDS
--
Antenatal
1-9/1000000
14
249
5

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