Brown–Vialetto–Van Laere syndrome

Also known as: Riboflavin transporter deficiency

Progressive pontobulbar palsy with sensorineural deafness.

Medical specialty: Neurology
Subspecialty: Neurology / Neurodegenerative syndromes
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: SLC52A2, SLC52A3

Etiology & mechanism

Riboflavin transporter deficiency.

Gene(s) involved (2)

SLC52A2SLC52A3

Symptoms & signs (5)

ataxiabulbar palsyoptic atrophyrespiratory insufficiencysensorineural deafness

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