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MIRAGE
muscular dystrophy-dystroglycanopathy type B6
Summary
- Synonym
-
- MDC1D
- MDDGB6
- congenital muscular dystrophy LARGE-related
- congenital muscular dystrophy type 1D
- muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6
- muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
- Definition
- A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
- Disease Ontology
- DOID:0110637
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95461 | Xylosyl- and glucuronyltransferase LARGE1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| D9IG22 | LARGE-1 (Fragment) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001771 | Achilles tendon contracture |
| HP:0001252 | Hypotonia |
| HP:0003701 | Proximal muscle weakness |
| HP:0002187 | Intellectual disability, profound |
| HP:0003593 | Infantile onset |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0001302 | Pachygyria |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude |
