/Brown-Vialetto-van Laere syndrome 1

Brown-Vialetto-van Laere syndrome 1

Rare Disease

MONDO:0024537

Also Known As

Brown-Vialetto-Van Laere syndrome 1Brown-Vialetto-van Laere syndrome 1Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3RTD2Riboflavin transporter deficiency 2SLC52A3 Brown-Vialetto-van Laere syndromerfvt2-related riboflavin transporter deficiencyBVVLS1bulbar palsy, progressive, with sensorineural deafnesspontobulbar palsy with deafness

Definition

Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.

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Associated Genes

SLC52A3 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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progressive bulbar palsy

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Brown-Vialetto-van Laere syndrome 2

MONDO:0013867

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