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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:0002365 | Hypoplasia of the brainstem |
| HP:0007033 | Cerebellar dysplasia |
| HP:0011968 | Feeding difficulties |
| HP:0001270 | Motor delay |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002350 | Cerebellar cyst |
| HP:0006829 | Severe muscular hypotonia |
| HP:0009879 | Simplified gyral pattern |
| HP:0002093 | Respiratory insufficiency |
| HP:0012110 | Hypoplasia of the pons |
