OnlineIMD
Muscular dystrophy-dystroglycanopathy
(MDDG)
Type
Phenotype
Associated genes
Gene list
POMT1
POMT1-CDG
POMT2
POMT2-CDG
POMGNT1
POMGNT1-CDG
POMGNT2
POMGNT2-CDG
B3GALNT2
B3GALNT2-CDG
POMK
POMK-CDG
CRPPA
CRPPA-CDG
FKTN
FKTN-CDG
FKRP
FKRP-CDG
RXYLT1
RXYLT1-CDG
B4GAT1
B4GAT1-CDG
LARGE1
LARGE1-CDG
Disease group(s)
18.2.1 Disorders of O-mannosylation
Child entries
Walker-Warburg syndrome
Muscle-eye-brain disease
Muscular dystrophy-dystroglycanopathy Type B
Muscular dystrophy-dystroglycanopathy Type C