/Birk-Barel syndrome

Birk-Barel syndrome

Rare Disease

MONDO:0012856

Also Known As

BIRK-Barel intellectual disability dysmorphism syndromeBIRK-Barel mental retardation dysmorphism syndromeBirk-Barel syndromeKCNK9 Imprinting Syndromeintellectual disability-hypotonia-facial dysmorphism syndromeBirk Barel intellectual disability dysmorphism syndromeBirk Barel mental retardation dysmorphism syndromeintellectual disability with hypotonia and Facial Dysmorphismintellectual disability, Birk-Barel typemental retardation with hypotonia and Facial Dysmorphism

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).