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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/OMIM/614830
http://purl.bioontology.org/ontology/OMIM/614830
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Preferred Name | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 |
Synonyms |
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED
MDDGA8
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED
MDDGA8
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prefLabel | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
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Gene Symbol |
POMGNT2
C3orf39
MDDGA8
AGO61
MDDGC8
GTDC2
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notation | 614830
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Scope Statement | Caused by mutation in the glycosyltransferase-like domain-containing protein 2 gene (GTDC2, 614828.0001) [MOLECULAR BASIS]
Onset prenatally or at birth [MISCELLANEOUS]
Severe phenotype [MISCELLANEOUS]
Most patients die within the first year of life [MISCELLANEOUS]
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OMIM MimType Value | pound
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Has inheritance type | |
Semantic type UMLS property | |
OMIM Entry Type | 3
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type | |
Has manifestation |
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MIMTYPEMEANING | Phenotype description, molecular basis known.
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Gene Locus | 3p22.1
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tui | T047
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cui | C3553813
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