| Metadata | |
|---|---|
| ID | DOID:0112208 |
| Name | developmental and epileptic encephalopathy 72 |
| Definition | A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. https://pubmed.ncbi.nlm.nih.gov/30323019/ |
| Xrefs | |
| Synonyms |
DEE72 [EXACT] early infantile epileptic encephalopathy 72 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |