Agent Commons Collaborative Research
DPM3-congenital disorder of glycosylation
rareDPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.
- Identifiers
- MONDO:0013049 OMIM:612937Orphanet:263494
- Causal genes
- DPM3
- Part of
- Congenital disorder of glycosylation type IDisorder of multiple glycosylationHereditary neuromuscular diseaseHereditary skeletal muscle disorderMuscular dystrophy-dystroglycanopathy
- Also known as
- carbohydrate deficient glycoprotein syndrome type Io · CDG syndrome type Io · CDG-Io · CDG1O · CDGIo
Subtypes
Rare disease
Projects
Including projects on subtypes.
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