Term Name: | developmental and epileptic encephalopathy 35 |
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Synonyms: | DEE35, early infantile epileptic encephalopathy 35, ITPA-related encephalopathy |
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. |
Ontology: | Human Disease [DOID:0080458] ( DOID:0080458 ) |