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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:0003546 | Exercise intolerance |
| HP:0001324 | Muscle weakness |
| HP:0008959 | Distal upper limb muscle weakness |
| HP:0003327 | Axial muscle weakness |
| HP:0000639 | Nystagmus |
| HP:0003551 | Difficulty climbing stairs |
| HP:0001638 | Cardiomyopathy |
| HP:0008997 | Proximal muscle weakness in upper limbs |
| HP:0001250 | Seizure |
| HP:0003388 | Easy fatigability |
