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Metadata
ID DOID:0112343
Name hereditary spastic paraplegia 82
Definition A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.
https://pubmed.ncbi.nlm.nih.gov/31637422/
Xrefs

MIM:618770
Synonyms

spastic paraplegia 82 autosomal recessive [EXACT]

SPG82 [EXACT]
Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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