| Metadata | |
|---|---|
| ID | DOID:0070459 |
| Name | hereditary spastic paraplegia 90A |
| Definition | A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. https://pubmed.ncbi.nlm.nih.gov/36718090/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620416 |
| Synonyms |
autosomal dominant spastic paraplegia 90A [EXACT] SPG90A [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |