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muscular dystrophy-dystroglycanopathy type B4
Summary
- Synonym
-
- MDDGB4
- congenital muscular dystrophy FKTN-related
- Definition
- A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
- Disease Ontology
- DOID:0112379
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003560 | Muscular dystrophy |
| HP:0003797 | Limb-girdle muscle atrophy |
| HP:0007126 | Proximal amyotrophy |
| HP:0008180 | Mildly elevated creatine kinase |
| HP:0012548 | Fatty replacement of skeletal muscle |
| HP:0003593 | Infantile onset |
| HP:0001252 | Hypotonia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0011463 | Childhood onset |
| HP:0003236 | Elevated circulating creatine kinase concentration |
