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intellectual developmental disorder with seizures and dysmorphic facies (DOID:0061254)
Alliance: disease page
Alt IDs: OMIM:621457
Definition: An autosomal dominant intellectual developmental disorder characterized by mildly impaired intellectual development, learning difficulties, and early-onset seizures that are well controlled by medication that has_material_basis_in heterozygous mutation in the UNC13A gene on chromosome 19p13.


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
03/31/2026
MGI 6.24
The Jackson Laboratory