| Metadata | |
|---|---|
| ID | DOID:0112203 |
| Name | developmental and epileptic encephalopathy 67 |
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. https://pubmed.ncbi.nlm.nih.gov/29630738/ |
| Xrefs | |
| Synonyms |
DEE67 [EXACT] early infantile epileptic encephalopathy 67 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |