| Metadata | |
|---|---|
| ID | DOID:0080426 |
| Name | developmental and epileptic encephalopathy 63 |
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16. https://pubmed.ncbi.nlm.nih.gov/28422131/, https://www.ncbi.nlm.nih.gov/pubmed/26539891 |
| Xrefs | |
| Synonyms |
DEE63 [EXACT] early infantile epileptic encephalopathy 63 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |