Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12860 | Contactin-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001166 | Arachnodactyly |
| HP:0010557 | Overlapping fingers |
| HP:0001319 | Neonatal hypotonia |
| HP:0002033 | Poor suck |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001522 | Death in infancy |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0000316 | Hypertelorism |
| HP:0009473 | Joint contracture of the hand |
| HP:0001284 | Areflexia |
