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Metadata
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

MIM:619027

Synonyms

spastic paraplegia 83 autosomal recessive [EXACT]

SPG83 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

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