| Metadata | |
|---|---|
| ID | DOID:0110669 |
| Name | congenital myasthenic syndrome 14 |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/23404334, https://www.ncbi.nlm.nih.gov/pubmed/24461433 |
| Xrefs | |
| Synonyms |
CMS14 [EXACT] CMSTA3 [EXACT] congenital myasthenic syndrome 14, with tubular aggregates [EXACT] congenital myasthenic syndrome with tubular aggregates 3 [EXACT] |
| Parent Relationships |