| Term Name: | autosomal dominant intellectual developmental disorder 78 |
|---|---|
| Synonyms: | |
| Definition: | An autosomal dominant intellectual developmental disorder that is characterized by neurodevelopmental abnormalities including intellectual disability, language and motor delays, autism spectrum disorder, and epilepsy or seizures and that has_material_basis_in heterozygous mutation in the INTS6 gene on chromosome 13q14. |
| Ontology: | Human Disease [DOID:0081467] ( DOID:0081467 ) |