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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616538
http://purl.bioontology.org/ontology/OMIM/616538
|
|---|---|
| Preferred Name | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 |
| Synonyms |
MDDGA9
WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MDDGA9
WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED
|
|---|---|
| prefLabel | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
|
| Gene Symbol |
MDDGC9
LGMDR16
DAG
MDDGA9
DAG1
|
| Scope Statement | Two unrelated families have been reported (last curated August 2015) [MISCELLANEOUS]
Caused by mutation in the dystrophin-associated glycoprotein-1 gene (DAG1, 128239.0004) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Death in first days of life (family B) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 3p21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616538
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225291
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |