OBO ID: DOID:0050675 |
Term Name: | Birk-Barel syndrome | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0050675 ) |
OTHER Birk-Barel syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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