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Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism

Alias:
Bassoe Syndrome
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular Dystrophy, Congenital, Infantile with Cataract and Hypogonadism
Muscular Dystrophy Congenital Infantile Cataract Hypogonadism
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism, is also known as bassoe syndrome. Affiliated tissues include eye and ovary, and related phenotypes are gait disturbance and hypotonia
Related ID：
MALACARDS：MSC132
OMIM：254000

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
--
--
1
MSC132

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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