Frontonasal Dysplasia 3 (FND3)

Frontonasal Dysplasia 3(来自ICD-11)
别称:
Frontonasal Dysplasia - Severe Microphthalmia - Severe Facial Clefting Syndrome
Fnd3
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Alx1-Related Frontonasal Dysplasia
Dysplasia, Frontonasal, Type 3
Frontonasal Dysplasia Type 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Frontonasal Dysplasia 3, also known as frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, is related to frontonasal dysplasia 1 and microphthalmia. An important gene associated with Frontonasal Dysplasia 3 is ALX1 (ALX Homeobox 1). Affiliated tissues include bone and skin, and related phenotypes are agenesis of corpus callosum and ptosis
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基础信息

遗传方式
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参考文献
MALACARDS
AR
Antenatal
<1/1000000
1
3
2

疾病表征

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基因 & 突变

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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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