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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607855
http://purl.bioontology.org/ontology/OMIM/607855
|
|---|---|
| Preferred Name | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A |
| Synonyms |
MDC1A
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MDC1A
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
|
|---|---|
| prefLabel | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A
|
| Gene Symbol |
LAMM
LAMA2
MDC1A
|
| Scope Statement | Caused by mutation in the laminin alpha-2 chain gene (LAMA2, 156225.0001) [MOLECULAR BASIS]
Ambulation usually not achieved [MISCELLANEOUS]
Onset at birth or early infancy [MISCELLANEOUS]
Partial laminin alpha-2 deficiency results in milder phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 6q22-q23
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607855
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1263858
C1842898
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |