Birk Barel Syndrome
Type of disease: Rare conditions
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).Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.