developmental and epileptic encephalopathy 117 Disease Ontology Browser

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developmental and epileptic encephalopathy 117 (DOID:0110683)
Alliance: disease page
Synonyms: CMS18; congenital myasthenic syndrome 18; DEE117
Alt IDs: OMIM:616330
Definition: A developmental and epileptic encephalopathy that is characterized by global developmental delay, hypotonia, delayed walking or inability to walk, and variably impaired intellectual development with poor or absent speech and that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.

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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