| Metadata | |
|---|---|
| ID | DOID:0112346 |
| Name | hereditary spastic paraplegia 83 |
| Definition | A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. https://pubmed.ncbi.nlm.nih.gov/32707086/ |
| Xrefs | |
| Synonyms |
spastic paraplegia 83 autosomal recessive [EXACT] SPG83 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |