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Human Disease

hereditary spastic paraplegia 79B

Term ID
DOID:0112344
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. https://pubmed.ncbi.nlm.nih.gov/28007905/
References
Ontology
Human Disease   ( DOID:0112344 )
Relationships
is a type of
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Genes Involved
Zebrafish Models