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MIRAGE
autosomal recessive limb-girdle muscular dystrophy type 2K
Summary
- Synonym
-
- LGMD2K
- MDDGC1
- limb-girdle muscular dystrophy-intellectual disability syndrome
- muscular dystrophy limb-girdle type 2K
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110297
- Mondo Disease Ontology
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002098 | Respiratory distress |
| HP:0010794 | Impaired visuospatial constructive cognition |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0001638 | Cardiomyopathy |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0000252 | Microcephaly |
| HP:0003306 | Spinal rigidity |
| HP:0003700 | Generalized amyotrophy |
| HP:0002094 | Dyspnea |
| HP:0008981 | Calf muscle hypertrophy |
