| Term Name: | Ebstein-Bezieau neurodevelopmental syndrome |
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| Synonyms: | |
| Definition: | A autosomal dominant intellectual developmental disorder characterized by neurodevelopmental delay, intellectual disability, and varying congenital malformations, most commonly skeletal and cardiac, that has_material_basis_in heterozygous mutation in the PSMC3 gene on chromosome 11p13. |
| Ontology: | Human Disease [DOID:0070693] ( DOID:0070693 ) |