| Term Name: | Brown-Vialetto-Van Laere syndrome 1 |
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| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0080785] ( DOID:0080785 ) |