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Fazio-Londe disease
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease progressive bulbar palsy
External Links
- Disease Ontology
- DOID:0080632
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
