| Metadata | |
|---|---|
| ID | DOID:0110671 |
| Name | congenital myasthenic syndrome 6 |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. https://www.ncbi.nlm.nih.gov/pubmed/11172068, https://www.ncbi.nlm.nih.gov/pubmed/12756141, https://www.ncbi.nlm.nih.gov/pubmed/25792100 |
| Xrefs | |
| Synonyms |
CMS Ia2 [EXACT] CMS1A2 [EXACT] CMS6 [EXACT] CMSEA [EXACT] congenital myasthenic syndrome 6, presynaptic [EXACT] congenital myasthenic syndrome type Ia2 [EXACT] congenital presynaptic myasthenic syndrome associated with episodic apnea [EXACT] familial infantile myasthenia [EXACT] familial infantile myasthenia gravis 2 [EXACT] FIM [EXACT] FIMG2 [EXACT] |
| Parent Relationships |