| Metadata | |
|---|---|
| ID | DOID:0050559 |
| Name | Fukuyama congenital muscular dystrophy |
| 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. https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a congenital muscular dystrophy-dystroglycanopathy type A |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |