Brown-Vialetto-Van Laere syndrome 1

Term ID

DOID:0080785

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. https://pubmed.ncbi.nlm.nih.gov/20206331/

References

• OMIM:211530

Ontology

Human Disease   ( DOID:0080785 )