|OBO ID: DOID:0080785|
|Term Name:||Brown-Vialetto-Van Laere syndrome 1||Search Ontology:|
|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/|
|Ontology:||Human Disease (DOID:0080785)|
|is a type of:||
OTHER Brown-Vialetto-Van Laere syndrome 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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