Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080785 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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