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autosomal recessive limb-girdle muscular dystrophy type 2T
Summary
- Synonym
-
- LGMD2T
- MDDGC14
- muscular dystrophy limb-girdle type 2T
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
- muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110294
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100543 | Cognitive impairment |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0007340 | Lower limb muscle weakness |
| HP:0001263 | Global developmental delay |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0001256 | Intellectual disability, mild |
| HP:0003577 | Congenital onset |
| HP:0011463 | Childhood onset |
| HP:0003560 | Muscular dystrophy |
| HP:0003701 | Proximal muscle weakness |
