| Metadata | |
|---|---|
| ID | DOID:0080458 |
| Name | developmental and epileptic encephalopathy 35 |
| Definition | A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. https://www.ncbi.nlm.nih.gov/pubmed/26224535 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DEE35 [EXACT] early infantile epileptic encephalopathy 35 [EXACT] ITPA-related encephalopathy [EXACT] |
| Parent Relationships |