| Metadata | |
|---|---|
| ID | DOID:0112275 |
| Name | developmental and epileptic encephalopathy 93 |
| Definition | A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. https://pubmed.ncbi.nlm.nih.gov/29668857/ |
| Xrefs | |
| Synonyms |
DEE93 [EXACT] IECEE3 [EXACT] infantile or early childhood epileptic encephalopathy 3 [EXACT] |
| Parent Relationships |