| 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 | |
| Synonyms |
riboflavin transporter deficiency neuronopathy [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |