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Disease Ontology Browser
Brown-Vialetto-Van Laere syndrome 2 (DOID:0080786)
Alliance: disease page
Synonyms: autosomal recessive spinocerebellar ataxia 3; autosomal recessive spinocerebellar ataxia type 3; autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome; autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; SCABD2; SCAR3; spinocerebellar ataxia with blindness and deafness 2
Alt IDs: OMIM:614707, MESH:C537309, ORDO:95433, UMLS_CUI:C1849094
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
07/29/2025
MGI 6.24 		The Jackson Laboratory