| Metadata | |
|---|---|
| ID | DOID:0070455 |
| Name | hereditary spastic paraplegia 79A |
| Definition | A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. https://pubmed.ncbi.nlm.nih.gov/35986737/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620221 |
| Synonyms |
autosomal dominant spastic paraplegia 79A [EXACT] SPG79A [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |