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Disease Ontology Browser
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory