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congenital muscular dystrophy-dystroglycanopathy type A1
Summary
- Synonym
-
- MDDGA1
- Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111237
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9VTK2 | Protein O-mannosyltransferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0006888 | Meningoencephalocele |
| HP:0007033 | Cerebellar dysplasia |
| HP:0007260 | Type II lissencephaly |
| HP:0007291 | Posterior fossa cyst |
| HP:0008551 | Microtia |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0010864 | Intellectual disability, severe |
| HP:0100022 | Abnormality of movement |
| HP:0100543 | Cognitive impairment |
| HP:0012793 | Kinked brainstem |
