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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:0000545 | Myopia |
| HP:0001276 | Hypertonia |
| HP:0001288 | Gait disturbance |
| HP:0001360 | Holoprosencephaly |
| HP:0001608 | Abnormality of the voice |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002353 | EEG abnormality |
| HP:0002435 | Meningocele |
| HP:0003198 | Myopathy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
