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muscular dystrophy-dystroglycanopathy type C8
Summary
- Synonym
-
- LGMDR24
- MDDGC2
- autosomal recessive limb-girdle muscular dystrophy 24
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
- muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
- Definition
- A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy
External Links
- Disease Ontology
- DOID:0112382
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NAT1 | Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003593 | Infantile onset |
| HP:0001263 | Global developmental delay |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0000750 | Delayed speech and language development |
| HP:0003693 | Distal amyotrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003621 | Juvenile onset |
| HP:0001270 | Motor delay |
| HP:0003701 | Proximal muscle weakness |
