OBO ID: DOID:0050675
Term Name: Birk-Barel syndrome Search Ontology:
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 Birk-Barel syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCNK9 Birk-Barel syndrome 612292
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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