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muscular dystrophy-dystroglycanopathy type B14
Summary
- Synonym
-
- MDDGB14
- congenital muscular dystrophy GMPPB-related
- Definition
- A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
- Disease Ontology
- DOID:0112377
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0001256 | Intellectual disability, mild |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001315 | Reduced tendon reflexes |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001347 | Hyperreflexia |
| 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 |
