Search Ontology:
Human Disease

Birk-Barel syndrome

Term ID
DOID:0050675
Synonyms
  • 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. https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy
References
Ontology
Human Disease   ( DOID:0050675 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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