FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Birk-Barel syndrome ID (Ontology) DOID:0050675 (Human Disease)
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.
Also Known As "Birk-Barel mental retardation dysmorphism syndrome"
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 Genes
 Birk-Barel syndrome       1
 for disease ribbon | Birk-Barel syndrome       1
 model of | Birk-Barel syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Birk-Barel syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "Birk-Barel mental retardation dysmorphism syndrome" EXACT
Secondary IDs
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GARD:10358
MESH:C567357
MIM:612292