Term Name: | hereditary spastic paraplegia 79B |
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Synonyms: | autosomal recessive spastic paraplegia 79B, early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, spastic paraplegia 79 autosomal recessive, SPG79B |
Definition: | A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. |
Ontology: | Human Disease [DOID:0112344] ( DOID:0112344 ) |