| Metadata | |
|---|---|
| ID | DOID:0080587 |
| Name | congenital myasthenic syndrome 22 |
| Definition | A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. https://www.ncbi.nlm.nih.gov/pubmed/28726805 |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |