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Disease Ontology Browser
developmental and epileptic encephalopathy 38 (DOID:0080417)
Alliance: disease page
Synonyms: 'DEE38'; 'early infantile epileptic encephalopathy 38'
Alt IDs: OMIM:617020
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.


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
06/08/2021
MGI 6.17
The Jackson Laboratory