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Compton-North congenital myopathy
Summary
- Synonym
-
- congenital myopathy 12
- 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.
- Super Class
- autosomal recessive disease congenital myopathy physical disorder
External Links
- Disease Ontology
- DOID:0080101
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12860 | Contactin-1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12960 | Contactin-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001622 | Premature birth |
| HP:0001263 | Global developmental delay |
| HP:0004415 | Pulmonary artery stenosis |
| HP:0000300 | Oval face |
| HP:0002705 | High, narrow palate |
| HP:0012385 | Camptodactyly |
| HP:0001518 | Small for gestational age |
| HP:0000218 | High palate |
| HP:0001558 | Decreased fetal movement |
| HP:0003593 | Infantile onset |
