Birk-Barel syndrome

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, KCNK9 Imprinting Syndrome, intellectual disability-hypotonia-facial dysmorphism syndrome, Birk Barel intellectual disability dysmorphism syndrome, Birk Barel mental retardation dysmorphism syndrome, intellectual disability with hypotonia and Facial Dysmorphism

0 clinical trials for this condition and its sub-types, 0 tagged with Birk-Barel syndrome itself.