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Disease Ontology Browser
early infantile epileptic encephalopathy 35 (DOID:0080458)
Alliance: disease page
Synonyms: ITPA-related encephalopathy
Alt IDs: OMIM:616647, ORDO:457375
Definition: An early infantile 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)
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last database update
09/15/2020
MGI 6.15
The Jackson Laboratory