Metadata | |
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ID | DOID:0112346 |
Name | hereditary spastic paraplegia 83 |
Definition | A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. https://pubmed.ncbi.nlm.nih.gov/32707086/ |
Xrefs | |
Synonyms |
spastic paraplegia 83 autosomal recessive [EXACT] SPG83 [EXACT] |
Parent Relationships |