| Metadata | |
|---|---|
| ID | DOID:0112349 |
| Name | hereditary spastic paraplegia 81 |
| Definition | A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. https://pubmed.ncbi.nlm.nih.gov/28052917/, https://pubmed.ncbi.nlm.nih.gov/29500230/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction [EXACT] autosomal recessive complex SPG due to Kennedy pathway dysfunction [EXACT] spastic paraplegia 81 autosomal recessive [EXACT] SPG81 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |