| Term Name: | neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0070713] ( DOID:0070713 ) |