developmental and epileptic encephalopathy 35 (DOID:0080458)
Alliance: disease page
Synonyms: DEE35; early infantile epileptic encephalopathy 35; ITPA-related encephalopathy
Alt IDs: OMIM:616647, ORDO:457375
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.