| Metadata | |
|---|---|
| ID | DOID:0112345 |
| Name | hereditary spastic paraplegia 85 |
| Definition | A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/31636353/ |
| Xrefs | |
| Synonyms |
spastic paraplegia 85 autosomal recessive [EXACT] SPG85 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |