Lissencephaly, X-Linked, 2 (LISX2)

Alias:
X-Linked Lissencephaly with Abnormal Genitalia
X-Linked Lissencephaly with Ambiguous Genitalia
Hydranencephaly with Abnormal Genitalia
Xlag
X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome
X-Linked Lissencephaly 2
Xlag Syndrome
Lisx2
Xlisg
Lissencephaly, X-Linked 2
Lissencephaly, X-Linked, with Ambiguous Genitalia
Lissencephaly X-Linked with Ambiguous Genitalia
Chromosome Xq26.3 Duplication Syndrome
Lissencephaly, X-Linked, Type 2
Xlis2
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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
X连锁无脑畸形2型,又名X连锁无脑畸形伴异常生殖器,与智力发育障碍X连锁29和胼胝体缺失伴异常生殖器有关,症状包括打鼾和皮肤增厚。与X连锁无脑畸形2型有关的重要基因是ARX(Aristaless相关同源盒),其相关通路/超级通路包括信号转导和G-βγ信号通路。相关组织包括大脑和睾丸,相关表型包括智力障碍和癫痫。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
新生儿
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28
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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