| Metadata | |
|---|---|
| ID | DOID:0112221 |
| Name | developmental and epileptic encephalopathy 87 |
| Definition | A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/32330417/ |
| Xrefs | |
| Synonyms |
DEE87 [EXACT] early infantile epileptic encephalopathy 87 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |