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Repository for lectin-assisted multimodality data
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MIRAGE
congenital myasthenic syndrome 17
Summary
- Synonym
-
- CMS17
- Definition
- A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110674
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75096 | Low-density lipoprotein receptor-related protein 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002194 | Delayed gross motor development |
| HP:0012764 | Orthopnea |
