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
congenital myopathy 4A
Summary
- Synonym
-
- CFTD
- congenital fiber-type disproportion
- Definition
- A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.
- Super Class
- autosomal dominant disease congenital myopathy physical disorder
External Links
- Disease Ontology
- DOID:0080102
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000218 | High palate |
| HP:0000276 | Long face |
| HP:0000347 | Micrognathia |
| HP:0000602 | Ophthalmoplegia |
| HP:0000678 | Dental crowding |
| HP:0000767 | Pectus excavatum |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| HP:0001315 | Reduced tendon reflexes |
