| Metadata | |
|---|---|
| ID | DOID:0070713 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070713 Copy |
| Name | neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621390 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDSZFB [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |