| Metadata | |
|---|---|
| ID | DOID:0112344 |
| Name | hereditary spastic paraplegia 79B |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spastic paraplegia 79B [EXACT] early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [EXACT] spastic paraplegia 79 autosomal recessive [EXACT] SPG79B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance existence starts during some Juvenile onset |