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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/253280
http://purl.bioontology.org/ontology/OMIM/253280
|
|---|---|
| Preferred Name | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 |
| Synonyms |
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
MDDGA3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
MDDGA3
|
|---|---|
| prefLabel | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
| Gene Symbol |
MDDGB3
LGMDR15
MEB
MDDGC3
POMGNT1
RP76
MDDGA3
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| Scope Statement | Patients with MEB may acquire ability to walk and a few words [MISCELLANEOUS]
Two patients with a WWS phenotype have been reported [MISCELLANEOUS]
Genetic heterogeneity [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
Patients with MEB have less severe features and longer survival [MISCELLANEOUS]
Onset prenatally or at birth [MISCELLANEOUS]
Majority of WWS patients die within the first year of life [MISCELLANEOUS]
Severe disorder [MISCELLANEOUS]
Caused by mutation in the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase gene (POMGNT1, 606822.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 1p34-p33
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 253280
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3151519
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |