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DOID:0050675 - Birk-Barel syndrome
Disease Ontology 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.
Synonyms: Birk-Barel mental retardation dysmorphism syndrome, BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME
Xenbase Genes
:
kcnk9
| MONDO:0012856 - Birk-Barel syndrome |
| MIM:612292 - BIRK-BAREL SYNDROME; BIBARS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)