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Disease Ontology Browser
developmental and epileptic encephalopathy 95 (DOID:0070382)
Alliance: disease page
Synonyms: DEE95; early infantile epileptic encephalopathy 95
Alt IDs: OMIM:618143
Definition: A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11.

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
12/17/2024
MGI 6.24 		The Jackson Laboratory