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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:0002282 | Gray matter heterotopia |
| HP:0002350 | Cerebellar cyst |
| HP:0002355 | Difficulty walking |
| HP:0002359 | Frequent falls |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002751 | Kyphoscoliosis |
| HP:0003324 | Generalized muscle weakness |
| HP:0003326 | Myalgia |
| HP:0003394 | Muscle spasm |
| HP:0003458 | EMG: myopathic abnormalities |
