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Summary Literature (0)
DOID:0080785 - Brown-Vialetto-Van Laere syndrome 1


Disease 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.

Synonyms:

Xenbase Genes : slc52a3



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Brown-Vialetto-Van Laere syndrome (is_a), autosomal recessive disease (is_a)