OBO ID: DOID:0112344
Term Name: hereditary spastic paraplegia 79 Search Ontology:
Synonyms:
  • early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
  • spastic paraplegia 79 autosomal recessive
  • SPG79
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 UCHL1 on chromosome 4p13. https://pubmed.ncbi.nlm.nih.gov/28007905/
References:
Ontology: Human Disease   (DOID:0112344)
OTHER hereditary spastic paraplegia 79 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UCHL1 Spastic paraplegia 79, autosomal recessive 615491
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None