Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/613151
http://purl.bioontology.org/ontology/OMIM/613151
Preferred Name

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3
Synonyms
MDDGB3
MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MDDGB3
MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED
prefLabel
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3
Gene Symbol
MDDGB3
LGMDR15
MEB
MDDGC3
POMGNT1
RP76
MDDGA3
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Scope Statement
Caused by mutation in the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase gene (POMGNT1, 606822.0014) [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
Two unrelated patients have been reported [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU037026
http://purl.bioontology.org/ontology/OMIM/MTHU000269
http://purl.bioontology.org/ontology/OMIM/MTHU000660
http://purl.bioontology.org/ontology/OMIM/MTHU000379
http://purl.bioontology.org/ontology/OMIM/MTHU036427
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU006304
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU037519
http://purl.bioontology.org/ontology/OMIM/MTHU000133
http://purl.bioontology.org/ontology/OMIM/MTHU003951
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU032080
http://purl.bioontology.org/ontology/OMIM/MTHU008796
http://purl.bioontology.org/ontology/OMIM/MTHU034057
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tui
T047
Gene Locus
1p34-p33
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
613151
Semantic type UMLS property
Has inheritance type
cui
C3150412
OMIM Entry Type
3
OMIM MimType Value
pound
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