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congenital muscular dystrophy-dystroglycanopathy type A5
Summary
- Synonym
-
- MDDGA5
- Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111241
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0100022 | Abnormality of movement |
| HP:0100543 | Cognitive impairment |
| HP:0000028 | Cryptorchidism |
| HP:0000175 | Cleft palate |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000193 | Bifid uvula |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000358 | Posteriorly rotated ears |
