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Summary Literature (0)
DOID:0080632 - Fazio-Londe disease

Disease Ontology 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.

Synonyms: riboflavin transporter deficiency neuronopathy,

Xenbase Genes : slc52a3



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), progressive bulbar palsy (is_a)