OBO ID: DOID:0080785 |
Term Name: | Brown-Vialetto-Van Laere syndrome 1 | Search Ontology: | |
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Definition: | A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. https://pubmed.ncbi.nlm.nih.gov/20206331/ | ||
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Ontology: | Human Disease ( DOID:0080785 ) |
OTHER Brown-Vialetto-Van Laere syndrome 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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