Agent Commons Collaborative Research
Congenital muscular dystrophy with intellectual disability and severe epilepsy
rare- Identifiers
- MONDO:0014023 OMIM:615042Orphanet:329178
- Causal genes
- DPM2
- 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 Iu · CDG syndrome type Iu · CDG-Iu · CDG1U · CMD with intellectual disability and severe epilepsy
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