Metadata | |
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ID | DOID:0110792 |
Name | hereditary spastic paraplegia 4 |
Definition | A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. https://www.ncbi.nlm.nih.gov/pubmed/9302257 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal dominant spastic paraplegia 4 [EXACT] autosomal dominant spastic paraplegia type 4 [EXACT] SPG4 [EXACT] |
Parent Relationships |