|
General Information
|
| Term |
Compton-North congenital myopathy |
ID (Ontology) |
DOID:0080101 (Human Disease) |
| Definition |
A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. |
| Also Known As |
"congenital myopathy 12" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
Compton-North congenital myopathy | 1 | for disease ribbon | Compton-North congenital myopathy | 1 | model of | Compton-North congenital myopathy | 1 |
|
Relationships