Term Name: hereditary spastic paraplegia 79B
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 )

Relationships
is a type of: autosomal recessive disease hereditary spastic paraplegia