Term Name: | autosomal dominant intellectual developmental disorder 60 with seizures |
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Synonyms: | MRD60 |
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. |
Ontology: | Human Disease [DOID:0061050] ( DOID:0061050 ) |