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Metadata
ID DOID:0112349
Name hereditary spastic paraplegia 81
Definition A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3.
https://pubmed.ncbi.nlm.nih.gov/28052917/, https://pubmed.ncbi.nlm.nih.gov/29500230/
Xrefs

MIM:618768

ORDO:506353

Subsets

DO_rare_slim

Synonyms

autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction [EXACT]

autosomal recessive complex SPG due to Kennedy pathway dysfunction [EXACT]

spastic paraplegia 81 autosomal recessive [EXACT]

SPG81 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

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