| Metadata | |
|---|---|
| ID | DOID:0080465 |
| Name | developmental and epileptic encephalopathy 30 |
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/25839329 |
| Xrefs | |
| Synonyms |
DEE30 [EXACT] early infantile epileptic encephalopathy 30 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |