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Birk-Barel syndrome
Summary
- Synonym
-
- Birk-Barel mental retardation dysmorphism syndrome
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0050675
- Mondo Disease Ontology
- MeSH
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NPC2 | Potassium channel subfamily K member 9 |
