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brown-Vialetto-van Laere syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.
Uniprot Description An autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation.
Mondo Term and Equivalent IDs
MONDO:0013867:  brown-Vialetto-van Laere syndrome 2
GARD:0012861: 
UMLS:C3553538: