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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613154
http://purl.bioontology.org/ontology/OMIM/613154
|
|---|---|
| Preferred Name | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 |
| Synonyms |
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
MDDGA6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
MDDGA6
|
|---|---|
| prefLabel | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
|
| Gene Symbol |
MDDGA6
KIAA0609
LARGE1
MDDGB6
MDC1D
|
| Scope Statement | Caused by mutation in the acetylglucosaminyltransferase-like protein gene (LARGE1, 603590.0003) [MOLECULAR BASIS]
Four patients have been reported [MISCELLANEOUS]
Onset prenatally or at birth [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 22q12.3-q13.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613154
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3150414
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |