About   Help   FAQ
Disease Ontology Browser
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory