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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/253800
http://purl.bioontology.org/ontology/OMIM/253800
|
|---|---|
| Preferred Name | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 |
| Synonyms |
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY
FCMD
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
MDDGA4
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY
FCMD
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
MDDGA4
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|---|---|
| prefLabel | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
|
| Gene Symbol |
MDDGC4
LGMDR13
FCMD
FKTN
MDDGA4
CMD1X
MDDGB4
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| Scope Statement | Incidence of 1 per 10,000 births in Japan [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the fukutin gene (FKTN, 607440.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 9q31
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 253800
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0410174
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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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