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MIRAGE
muscular dystrophy-dystroglycanopathy type C12
Summary
- Synonym
-
- LGMD due to POMK deficiency
- Limb-girdle muscular dystrophy due to POMK deficiency
- MDDGC12
- muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
- Definition
- A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy
External Links
- Disease Ontology
- DOID:0112381
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H5K3 | Protein O-mannose kinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002280 | Enlarged cisterna magna |
| HP:0003551 | Difficulty climbing stairs |
| HP:0001270 | Motor delay |
| HP:0003593 | Infantile onset |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0001265 | Hyporeflexia |
| HP:0003560 | Muscular dystrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0006889 | Intellectual disability, borderline |
