| Term Name: | Fazio-Londe disease |
|---|---|
| Synonyms: | riboflavin transporter deficiency neuronopathy |
| Definition: | A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. |
| Ontology: | Human Disease [DOID:0080632] ( DOID:0080632 ) |