Brown-Vialetto-van Laere syndrome 1
Findings
No curated finding names Brown-Vialetto-van Laere syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.
Definition from the Mondo Disease Ontology (MONDO:0024537), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Progressive · Death in childhood · Childhood onset
HPO, annotations 2026-09-02
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bulbar palsyHPOHP:0001283
- 3 of 9 reported patients
- Muscle weaknessHPOHP:0001324
- 3 of 9 reported patients
- StridorHPOHP:0010307
- 3 of 9 reported patients
- Facial palsyHPOHP:0010628
- 2 of 9 reported patients
- Hearing impairmentHPOHP:0000365
- 2 of 9 reported patients
- HypotoniaHPOHP:0001252
- 2 of 9 reported patients
- Skeletal muscle atrophyHPOHP:0003202
Show the remaining 10
- Gait imbalanceHPOHP:0002141
- 1 of 9 reported patients
- Generalized muscle weaknessHPOHP:0003324
- 1 of 9 reported patients
- Peripheral neuropathyHPOHP:0009830
- 1 of 9 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 1 of 9 reported patients
- Respiratory failure requiring assisted ventilationHPOHP:0004887
- 1 of 9 reported patients
- Tongue atrophyHPOHP:0012473
- 1 of 9 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC52A3HGNC:16187
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: Brown-Vialetto-van Laere syndrome 1
- Also called
- Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3rfvt2-related riboflavin transporter deficiencyRiboflavin transporter deficiency 2RTD2SLC52A3 Brown-Vialetto-van Laere syndrome