| Metadata | |
|---|---|
| ID | DOID:0110659 |
| Name | congenital myasthenic syndrome 7 |
| Definition | A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. https://www.ncbi.nlm.nih.gov/pubmed/25792100, https://www.ncbi.nlm.nih.gov/pubmed/25192047 |
| Xrefs | |
| Synonyms |
CMS7 [EXACT] congenital myasthenic syndrome 7 presynaptic [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |