OBO ID: DOID:0080785
Term Name: Brown-Vialetto-Van Laere syndrome 1 Search Ontology:
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)
OTHER Brown-Vialetto-Van Laere syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC52A3 Brown-Vialetto-Van Laere syndrome 1 211530
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None