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

• OMIM:615491
• ORDO:352654

Ontology

Human Disease   ( DOID:0112344 )