Prevalence
The KCNB2-related neurodevelopmental syndrome is rare with the prevalence currently unknown. Only one cohort of 7 individuals has been reported.
Clinical Characteristics
The KCNB2-related neurodevelopmental syndrome is characterized by neurodevelopmental disorders with all individuals exhibiting developmental delay and most presenting intellectual disability and various facial dysmorphisms. Epilepsy, mild autistic traits, hand abnormalities, synophrys and ADHD may also be observed.
Inheritance
Of the seven individuals reported with KCNB2 mutations, five variants were de novo, one was inherited from a symptomatic heterozygous father and one was inherited from an unaffected mosaic father.
KCNB2