Log In|Sign Up
ENMuscular Dystrophy-Dystroglycanopathy , Type B, 1 (MDDGB1)
Alias:
Muscular Dystrophy-Dystroglycanopathy Congenital with Impaired Intellectual Development B1
Muscular Dystrophy-Dystroglycanopathy , Type B1
Mddgb1
Dystrophy, Muscular, Dystroglycanopathy , Type B1
Muscular Dystrophy, Congenital, Pomt1-Related
Muscular Dystrophy-Dystroglycanopathy Type B1
Muscular Dystrophy Congenital Pomt1-Related
Cmd Due to Dystroglycanopathy
Favorite
Muscular Dystrophy-Dystroglycanopathy , Type B, 1, also known as muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development b1, is related to muscular dystrophy-dystroglycanopathy and muscular dystrophy-dystroglycanopathy , type b, 5, and has symptoms including facial paresis An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 1 is POMT1 (Protein O-Mannosyltransferase 1). Affiliated tissues include brain and eye, and related phenotypes are cardiomyopathy and developmental cataract
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
