. "OMIM:612292"^^ . "Birk-Barel mental retardation dysmorphism syndrome"@en . "OMIM mapping confirmed by DO. [SN]."^^ . "DOID:0050675"^^ . . _:vb50937371 . "disease_ontology"^^ . "GARD:10358"^^ . _:vb50937371 . _:vb50937371 . _:vb50937371 . . "Birk-Barel syndrome"^^ . . "MESH:C567357"^^ . _:vb50937371 . "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."^^ .