autosomal dominant intellectual developmental disorder 60 with seizures Disease Ontology Browser

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autosomal dominant intellectual developmental disorder 60 with seizures (DOID:0061050)
Alliance: disease page
Synonyms: MRD60
Alt IDs: OMIM:618587
Definition: An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27.

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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