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 | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |