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Disease Ontology Browser
developmental and epileptic encephalopathy 118 (DOID:0061176)
Alliance: disease page
Alt IDs: OMIM:621250
Definition: A developmental and epileptic encephalopathy characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21.

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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Send questions and comments to User Support. 		last database update
08/05/2025
MGI 6.24 		The Jackson Laboratory