Search Ontology:
Human Disease
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities
- Term ID
- DOID:0070713
- Synonyms
-
- NEDSZFB
- Definition
- An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development, febrile seizures or epilepsy, facial dysmorphism, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KLHL20 gene on chromosome 1q25. https://pubmed.ncbi.nlm.nih.gov/36214804/
- References
- Ontology
- Human Disease ( DOID:0070713 )
Other Pages
Genes Involved
Zebrafish Models