Search Ontology:
Human Disease
intellectual developmental disorder with seizures and dysmorphic facies
- Term ID
- DOID:0061254
- Synonyms
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- Definition
- An autosomal dominant intellectual developmental disorder characterized by mildly impaired intellectual development, learning difficulties, and early-onset seizures that are well controlled by medication that has_material_basis_in heterozygous mutation in the UNC13A gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/41125872/
- References
- Ontology
- Human Disease ( DOID:0061254 )
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Genes Involved
Zebrafish Models