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 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder