| Metadata | |
|---|---|
| ID | DOID:0110672 |
| Name | congenital myasthenic syndrome 21 |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. https://www.ncbi.nlm.nih.gov/pubmed/20123977, https://www.ncbi.nlm.nih.gov/pubmed/27590285 |
| Xrefs | |
| Synonyms |
CMS21 [EXACT] congenital myasthenic syndrome 21, 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 |