Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies

Alias:
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sohval-Soffer Syndrome
Sohval Soffer Syndrome
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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
男性低促性腺激素性性腺功能减退伴精神发育迟滞和骨骼异常,又称男性高促性腺激素性性腺功能减退-智力障碍-骨骼异常综合征,与男性高促性腺激素性性腺功能减退-智力障碍-骨骼异常综合征有关。附属组织包括甲状腺,相关表型包括智力障碍和2型糖尿病。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
X染色体
X隐
新生儿
<1/1000000
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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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