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autosomal recessive limb-girdle muscular dystrophy type 2Z
Summary
- Synonym
-
- limb-girdle muscular dystrophy 21
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0080762
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0006536 | Airway obstruction |
