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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Fukuyama congenital muscular dystrophy
Summary
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003457 | EMG abnormality |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0100022 | Abnormality of movement |
| HP:0100543 | Cognitive impairment |
| HP:0000248 | Brachycephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000298 | Mask-like facies |
| HP:0000750 | Delayed speech and language development |
| HP:0000767 | Pectus excavatum |
