| Metadata | |
|---|---|
| ID | DOID:0112341 |
| Name | hereditary spastic paraplegia 80 |
| Definition | A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. https://pubmed.ncbi.nlm.nih.gov/30929741/ |
| Xrefs | |
| Synonyms |
spastic paraplegia 80 autosomal dominant [EXACT] SPG80 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |