Birk-Barel syndrome (DOID:0050675)
Alliance: disease page
Synonyms: Birk-Barel mental retardation dysmorphism syndrome
Alt IDs: OMIM:612292, MESH:C567357
Definition: A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.