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muscular dystrophy-dystroglycanopathy type B2
Summary
- Synonym
-
- MDDGB2
- congenital muscular dystrophy POMT2-related
- Definition
- A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
- Disease Ontology
- DOID:0112380
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0006899 | Fusion of the cerebellar hemispheres |
| HP:0006955 | Olivopontocerebellar hypoplasia |
| HP:0007015 | Poor gross motor coordination |
| HP:0007204 | Diffuse white matter abnormalities |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007260 | Type II lissencephaly |
| HP:0007361 | Abnormal pons morphology |
| HP:0008443 | Neuropathic spinal arthropathy |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0008981 | Calf muscle hypertrophy |
| 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 |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| 84197 | POMK | protein O-mannose kinase |
