Disease - Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2
- DefinitionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities.
- AcronymMDDGB2
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- Keywords
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Browse 1 entry- Protein O-mannosyl-transferase 2 · Gene: POMT2 · Homo sapiens (Human) · EC:2.4.1.109 · 750 amino acids · Evidence at protein level · Annotation score: 5/5