riboflavin transporter deficiency
MONDO:0008891Mondo
Findings
No curated finding names riboflavin transporter deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
Definition from the Mondo Disease Ontology (MONDO:0008891), read 2026-09-29. CC BY 4.0.
Features
36 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.
- Abnormal cranial nerve morphologyHPOHP:0001291
- Very frequent (80% to 99% of cases)
- Bulbar palsyHPOHP:0001283
- Very frequent (80% to 99% of cases)
- Cranial nerve paralysisHPOHP:0006824
- Very frequent (80% to 99% of cases)
- Progressive hearing impairmentHPOHP:0001730
- Very frequent (80% to 99% of cases)
- Abnormality of eye movementHPOHP:0000496
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Facial palsyHPOHP:0010628
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Limb muscle weaknessHPOHP:0003690
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
Show the remaining 24
- MyoclonusHPOHP:0001336
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- Frequent (30% to 79% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Occasional (5% to 29% of cases)
- Abnormal macular pigmentationHPOHP:0008002
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
5 names
Resolves to: riboflavin transporter deficiency
- Also called
- Brown-Vialetto-van Laere syndromedisorder of riboflavin transmembrane transporter activityFazio-Londe syndromeriboflavin transmembrane transporter activity diseasesensorineural hearing loss-pontobulbar palsy syndrome