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Metadata
ID	DOID:0080785
Name	Brown-Vialetto-Van Laere syndrome 1
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/
Xrefs	OMIM:211530
Parent Relationships	is_a autosomal recessive disease is_a Brown-Vialetto-Van Laere syndrome