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MIRAGE
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001302 | Pachygyria |
| HP:0002359 | Frequent falls |
| HP:0000252 | Microcephaly |
| HP:0002282 | Gray matter heterotopia |
| HP:0003394 | Muscle spasm |
| HP:0001270 | Motor delay |
| HP:0007126 | Proximal amyotrophy |
| HP:0001319 | Neonatal hypotonia |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0012548 | Fatty replacement of skeletal muscle |
