Fazio-Londe disease

Term ID

DOID:0080632

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. https://www.ncbi.nlm.nih.gov/books/NBK299312/

References

• OMIM:211500

Ontology

Human Disease   ( DOID:0080632 )