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autosomal recessive limb-girdle muscular dystrophy type 2I
Summary
- Synonym
-
- LGMD2I
- Limb-girdle muscular dystrophy due to FKRP deficiency
- MDDGC5
- muscular dystrophy limb-girdle type 2I
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
- muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110299
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003307 | Hyperlordosis |
| HP:0002355 | Difficulty walking |
| HP:0002808 | Kyphosis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002877 | Nocturnal hypoventilation |
| HP:0003828 | Variable expressivity |
| HP:0003326 | Myalgia |
| HP:0008305 | Exercise-induced myoglobinuria |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0003733 | Thigh hypertrophy |
