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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:0000158 | Macroglossia |
| HP:0000666 | Horizontal nystagmus |
| HP:0001335 | Bimanual synkinesia |
| HP:0003487 | Babinski sign |
| HP:0004322 | Short stature |
| HP:0001290 | Generalized hypotonia |
| HP:0002987 | Elbow flexion contracture |
| HP:0009473 | Joint contracture of the hand |
| HP:0003560 | Muscular dystrophy |
| HP:0002395 | Lower limb hyperreflexia |
