Search Ontology:
Human Disease
autosomal dominant intellectual developmental disorder 78
- Term ID
- DOID:0081467
- 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. https://pubmed.ncbi.nlm.nih.gov/40966122/
- References
- Ontology
- Human Disease ( DOID:0081467 )
Other Pages
Genes Involved
Zebrafish Models