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muscular dystrophy-dystroglycanopathy type B15
Summary
- Synonym
-
- MDDGB15
- congenital muscular dystrophy DPM3-related
- Definition
- A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
- Disease Ontology
- DOID:0112376
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002093 | Respiratory insufficiency |
| HP:0007015 | Poor gross motor coordination |
| HP:0000707 | Abnormality of the nervous system |
| HP:0002828 | Multiple joint contractures |
| HP:0000478 | Abnormality of the eye |
| HP:0003327 | Axial muscle weakness |
| HP:0001315 | Reduced tendon reflexes |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0002505 | Loss of ambulation |
| HP:0000054 | Micropenis |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 10585 | POMT1 | protein O-mannosyltransferase 1 |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B |
| 29954 | POMT2 | protein O-mannosyltransferase 2 |
| 79147 | FKRP | fukutin related protein |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
| 54344 | DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory |
