neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities Disease Ontology Browser

Home
Genes
Phenotypes
Human Disease
Expression
Recombinases
Function
Strains / SNPs
Homology
Tumors

About Help FAQ

Search
Download
More Resources
Submit Data
Find Mice (IMSR)
Analysis Tools
Contact Us
Browsers

Disease Ontology Browser

neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities (DOID:0070713)
Alliance: disease page
Synonyms: NEDSZFB
Alt IDs: OMIM:621390
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 06/09/2026 MGI 6.24