Brown-Vialetto-Van Laere syndrome
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurological disorder
rare disease |
| gptkbp:alternativeName |
BVVL syndrome
riboflavin transporter deficiency |
| gptkbp:causedBy |
mutation in SLC52A1 gene
mutation in SLC52A2 gene mutation in SLC52A3 gene |
| gptkbp:firstDescribed |
1894
Brown Van Laere Vialetto |
| https://www.w3.org/2000/01/rdf-schema#label |
Brown-Vialetto-Van Laere syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
211530
|
| gptkbp:symptom |
muscle weakness
ataxia cranial nerve palsies bulbar palsy progressive sensorineural deafness respiratory compromise |
| gptkbp:treatment |
riboflavin supplementation
|
| gptkbp:bfsParent |
gptkb:SLC52A1
|
| gptkbp:bfsLayer |
7
|