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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:0004637 | Decreased cervical spine mobility |
| HP:0007015 | Poor gross motor coordination |
| HP:0007361 | Abnormal pons morphology |
| HP:0008443 | Neuropathic spinal arthropathy |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0010628 | Facial palsy |
| HP:0010864 | Intellectual disability, severe |
| HP:0011968 | Feeding difficulties |
| HP:0003557 | Increased variability in muscle fiber diameter |
| 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 |
