Brachycephaly, Deafness, Cataract, Microstomia, and Impaired Intellectual Development

Alias:
Fine-Lubinsky Syndrome
Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation
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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
短头畸形、耳聋、白内障、小嘴畸形和智力障碍,也被称为Fine-Lubinsky综合征,与Ayme-Gripp综合征和高促性腺激素低睾酮症-白内障综合征有关,症状包括癫痫发作。与短头畸形、耳聋、白内障、小嘴畸形和智力障碍有关的重要基因是POR(细胞色素P450氧化还原酶)。附属组织包括乳腺,相关表型为脊柱侧弯和小耳。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
9
8

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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