| Metadata | |
|---|---|
| ID | DOID:0110661 |
| Name | congenital myasthenic syndrome 20 |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. https://www.ncbi.nlm.nih.gov/pubmed/27569547 |
| Xrefs | |
| Synonyms |
CMS20 [EXACT] congenital myasthenic syndrome 20 presynaptic [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |