Metadata | |
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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 | |
Synonyms |
riboflavin transporter deficiency neuronopathy [EXACT] |
Parent Relationships |