Neurology · Neurology / Neurodegenerative syndromes
Brown–Vialetto–Van Laere syndrome
also: Riboflavin transporter deficiency
Progressive pontobulbar palsy with sensorineural deafness.
- Specialty
- Neurology
- Subspecialty
- Neurology / Neurodegenerative syndromes
- Sex & age distribution
- Male: affected; Female: affected; Children: yes
- Gene(s) involved
- SLC52A2, SLC52A3
- Alternative names & eponyms
- Riboflavin transporter deficiency
Etiology & mechanism
Riboflavin transporter deficiency.
Gene(s) involved (2)
Symptoms & signs (5)
In plain terms, someone with Brown–Vialetto–Van Laere syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Wolfram syndrome
ataxia, optic atrophy, sensorineural deafness
2 shared
EAST syndrome
ataxia, sensorineural deafness
2 shared
Perrault syndrome
ataxia, sensorineural deafness
2 shared
Thiamine-responsive megaloblastic anemia syndrome
optic atrophy, sensorineural deafness
1 shared
Abetalipoproteinemia
ataxia
1 shared
Acquired cerebellar syndrome
ataxia
1 shared
Action myoclonus–renal failure syndrome
ataxia
1 shared
Angelman syndrome
ataxia
1 shared
Barakat syndrome
sensorineural deafness
1 shared
Cerebral folate deficiency syndrome
ataxia
Shares genes with
None.
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