Brown-Vialetto-Van Laere syndrome 2

Term ID

DOID:0080786

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

• OMIM:614707

Ontology

Human Disease   ( DOID:0080786 )