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MIRAGE
autosomal recessive limb-girdle muscular dystrophy type 2N
Summary
- Synonym
-
- LGMD2N
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
- muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110298
- Mondo Disease Ontology
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UKY4 | Protein O-mannosyl-transferase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001644 | Dilated cardiomyopathy |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0002540 | Inability to walk |
| HP:0100543 | Cognitive impairment |
| HP:0003551 | Difficulty climbing stairs |
| HP:0002194 | Delayed gross motor development |
| HP:0006913 | Frontal cortical atrophy |
| HP:0003560 | Muscular dystrophy |
| HP:0011463 | Childhood onset |
| HP:0001270 | Motor delay |
