OBO ID: DOID:0080786
Term Name: Brown-Vialetto-Van Laere syndrome 2 Search Ontology:
Synonyms:
Definition: A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. https://pubmed.ncbi.nlm.nih.gov/20206331/
References:
Ontology: Human Disease   (DOID:0080786)
OTHER Brown-Vialetto-Van Laere syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC52A2 Brown-Vialetto-Van Laere syndrome 2 614707
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None