Term Name: developmental and epileptic encephalopathy 35
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 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy