Visualize Submit Comment
Metadata
ID DOID:0080632
Name Fazio-Londe disease
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/
Xrefs

OMIM:211500

Synonyms

riboflavin transporter deficiency neuronopathy [EXACT]

Parent Relationships

is_a progressive bulbar palsy

is_a autosomal recessive disease

Add an item to the term tracker