Birk-Barel syndrome
Birk-Barel syndrome
Definition
Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).
Also known as BIRK-Barel intellectual disability dysmorphism syndrome, BIRK-Barel mental retardation dysmorphism syndrome, Birk-Barel syndrome, intellectual disability-hypotonia-facial dysmorphism syndrome, KCNK9 Imprinting Syndrome — per MONDO